| UQCRFS1 |
- |
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Component of the ubiquinol-cytochrome c reductase complex (complex III or cytochrome b-c1 complex), which is a respiratory chain that generates …
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| BRE |
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-
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| SPACA4 |
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| C5orf19 |
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-
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| TFR2 |
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Mediates cellular uptake of transferrin-bound iron in a non-iron dependent manner. May be involved in iron metabolism, hepatocyte function and …
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| POLI |
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-
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| UBE2V1 |
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Co-transcription of this gene and the neighboring downstream gene (UBE2V1) generates a rare transcript (Kua-UEV), which encodes a fusion protein …
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| SYT6 |
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Synaptotagmins, such as SYT6, share a common domain structure that includes a transmembrane domain and a cytoplasmic region composed of …
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| - |
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-
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| RPN2 |
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This gene encodes a type I integral membrane protein found only in the rough endoplasmic reticulum. The encoded protein is …
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| TMEM14C |
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-
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| SCYL3 |
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May play a role in regulating cell adhesion/migration complexes in migrating cells.
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| HN1 |
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-
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| TMLHE |
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Converts trimethyllysine (TML) into hydroxytrimethyllysine (HTML).
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| DPP10 |
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This gene encodes a protein that is a member of the S9B family in clan SC of the serine proteases. …
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| GPRC6A |
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-
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| TPM3 |
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Binds to actin filaments in muscle and nonmuscle cells. Plays a central role, in association with the troponin complex, in …
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| TES |
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Cancer-associated chromosomal changes often involve regions containing fragile sites. This gene maps to a commom fragile site on chromosome 7q31.2 …
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| C16orf46 |
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| IGSF8 |
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| ZNF208 |
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Zinc finger proteins (ZNFs) bind DNA and, through this binding, regulate gene transcription. Most ZNFs contain conserved C2H2 motifs and …
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| LTB4DH |
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Catalyzes the conversion of leukotriene B4 into its biologically less active metabolite, 12-oxo-leukotriene B4. This is an initial and key …
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| HGD |
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Homogentisate 1,2-dioxygenase (HGD) gene mutations are the molecular cause of alkaptonuria, a rare hereditary disorder of the phenylalanine catabolism. The …
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| NFKBIA |
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NFKB1 (MIM 164011) or NFKB2 (MIM 164012) is bound to REL (MIM 164910), RELA (MIM 164014), or RELB (MIM 604758) …
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| HK2 |
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Hexokinases phosphorylate glucose to produce glucose-6-phosphate, thus committing glucose to the glycolytic pathway. This gene encodes hexokinase 2, the predominant …
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| - |
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The protein encoded by this gene is found exclusively in the mitochondrion, where it catalyzes the transfer of a malonyl …
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| ZFP90 |
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May function as a repressor or silencer protein, and most likely exerts its repressing activity upon zinc-dependent binding to DNA. …
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| - |
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-
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| KCNJ3 |
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Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein …
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| CABP2 |
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The product of this gene belongs to a subfamily of calcium binding proteins, which share similarity to calmodulin. Calcium binding …
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| MBD1 |
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DNA methylation is the major modification of eukaryotic genomes and plays an essential role in mammalian development. Human proteins MECP2, …
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| GFPT2 |
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Controls the flux of glucose into the hexosamine pathway. Most likely involved in regulating the availability of precursors for N- …
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| - |
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-
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| - |
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-
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| TDRKH |
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| PNLIPRP1 |
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-
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| C18orf19 |
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| PRKRIP1 |
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-
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| SH2D2A |
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Could be a T cell-specific adapter protein involved in the control of T cell activation. May play a role in …
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| CGB |
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This gene is a member of the glycoprotein hormone beta chain family and encodes the beta 3 subunit of chorionic …
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| C1orf22 |
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| GTDC1 |
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-
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| AP4M1 |
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This gene encodes a subunit of the heterotetrameric AP-4 complex. The encoded protein belongs to the adaptor complexes medium subunits …
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| - |
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-
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| - |
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Converts D-glucuronic acid residues adjacent to N- sulfate sugar residues to L-iduronic acids (By similarity).
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| ONECUT1 |
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Transcriptional activator. Binds the consensus sequence 5'-DHWATTGAYTWWD-3' on a variety of gene promoters such as those of HNF3B and TTR. …
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| MYBBP1A |
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-
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| CRYBA2 |
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Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of the …
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| DDIT4 |
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| CACNG8 |
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L-type calcium channels are composed of five subunits. The protein encoded by this gene represents one of these subunits, gamma, …
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| - |
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-
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| ZNF229 |
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May function as a transcription factor.
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| CAPZA1 |
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CAPZA1 is a member of the F-actin capping protein alpha subunit family. This gene encodes the alpha subunit of the …
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| XAGE2 |
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This gene is a member of the XAGE subfamily, which belongs to the GAGE family. The GAGE genes are expressed …
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| - |
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| PTCD1 |
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-
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| - |
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-
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| C14orf11 |
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| FGL2 |
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Fibrinogen-like 2 is a fibrinogen-like protein similar to the beta- and gamma-chains of fibrinogen. FGL2 carboxyl-terminus consists of the fibrinogen-related …
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| ROPN1L |
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The protein encoded by this gene is a sperm protein, which interacts with A-kinase anchoring protein, AKAP3, through the amphipathic …
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| RGMB |
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-
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| - |
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-
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| MSRB2 |
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| - |
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| CXCL3 |
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Has chemotactic activity for neutrophils. May play a role in inflammation and exert its effects on endothelial cells in an …
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| - |
- |
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-
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| NDUFS6 |
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The multisubunit NADH:ubiquinone oxidoreductase (complex I) is the first enzyme complex in the electron transport chain of mitochondria. The iron-sulfur …
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| C15orf26 |
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| ASL |
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Argininosuccinate lyase (EC 4.3.2.1) is a urea cycle enzyme that catalyzes the cleavage of argininosuccinate to fumarate and arginine, an …
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| - |
- |
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-
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| - |
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-
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| - |
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This gene product is one of the SNARE recognition molecules implicated in vesicular transport between secretory compartments. It is a …
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| - |
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-
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| - |
- |
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Confers arsenite resistance (By similarity).
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| SLC25A16 |
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This gene encodes a protein that contains three tandemly repeated mitochondrial carrier protein domains. The encoded protein is localized in …
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| OR51B2 |
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Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a …
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| - |
- |
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-
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View
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| ZNF390 |
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-
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View
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| - |
- |
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-
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View
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| - |
- |
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-
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View
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| C6orf157 |
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-
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View
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| - |
- |
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-
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View
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| - |
- |
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-
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View
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| IARS2 |
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-
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| PODN |
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-
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| C14orf65 |
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-
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View
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| - |
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-
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| GLRA2 |
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The glycine receptor is a neurotransmitter-gated ion channel. Binding of glycine to its receptor increases the chloride conductance and thus …
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| RAP1GA1 |
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GTPase activator for the nuclear Ras-related regulatory protein RAP-1A (KREV-1), converting it to the putatively inactive GDP-bound state.
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| BTN2A2 |
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Butyrophilin is the major protein associated with fat droplets in the milk. This gene is a member of the BTN2 …
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| - |
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-
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View
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| - |
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-
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| OXCT2 |
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Key enzyme for ketone body catabolism. Transfers the CoA moiety from succinate to acetoacetate. Formation of the enzyme-CoA intermediate proceeds …
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| LHFPL5 |
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-
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| RAB9B |
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-
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View
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| - |
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-
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| HRK |
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Activator of apoptosis Hrk regulates apoptosis through interaction with death-repressor proteins Bcl-2 and Bcl-X(L). The HRK protein lacks significant homology …
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| EPHB6 |
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Ephrin receptors and their ligands, the ephrins, mediate numerous developmental processes, particularly in the nervous system. Based on their structures …
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| - |
- |
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-
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| FANK1 |
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-
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| SLC24A2 |
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Critical component of the visual transduction cascade, controlling the calcium concentration of outer segments during light and darkness. Light causes …
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| PMS2L4 |
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-
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| OGG1 |
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This gene encodes the enzyme responsible for the excision of 8-oxoguanine, a mutagenic base byproduct which occurs as a result …
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| - |
- |
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-
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View
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| MBD4 |
- |
|
|
DNA methylation is the major modification of eukaryotic genomes and plays an essential role in mammalian development. Human proteins MECP2, …
|
View
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| - |
- |
|
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-
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View
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| LY6G6D |
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-
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View
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| RPL24 |
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Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these …
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View
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| - |
- |
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-
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View
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| BYSL |
- |
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Bystin is expressed as a 2-kb major transcript and a 3.6-kb minor transcript in SNG-M cells and in human trophoblastic …
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| VPS29 |
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This gene belongs to a group of vacuolar protein sorting (VPS) genes that, when functionally impaired, disrupt the efficient delivery …
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| - |
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-
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| TRHDE |
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Thyrotropin-releasing hormone (TRH; MIM 275120) acts as a stimulator of hormone secretion from adenohypophyseal cells, and its signals are inactivated …
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View
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| - |
- |
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-
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View
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| EPS8L1 |
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This gene encodes a protein that is related to epidermal growth factor receptor pathway substrate 8 (EPS8), a substrate for …
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| DHFRP1 |
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-
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| NF1 |
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Mutations linked to neurofibromatosis type 1 led to the identification of NF1. NF1 encodes the protein neurofibromin, which appears to …
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View
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| - |
- |
|
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-
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View
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| ANKRD18A |
- |
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-
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View
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| - |
- |
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-
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View
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| MAPK14 |
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The protein encoded by this gene is a member of the MAP kinase family. MAP kinases act as an integration …
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| BECN1 |
- |
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May play a role in antiviral host defense. Protects against infection by a neurovirulent strain of Sindbis virus.
|
View
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| PHYHD1 |
- |
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-
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View
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| RGS9 |
- |
|
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Members of the RGS family, such as RGS9, are signaling proteins that suppress the activity of G proteins by promoting …
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| CITED1 |
- |
|
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Not known, seems to be associated with pigmentation.
|
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| FMO2 |
- |
|
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The flavin-containing monooxygenases are NADPH-dependent enzymes that catalyze the oxidation of many drugs and xenobiotics. In most mammals, there is …
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View
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| TUFT1 |
- |
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Involved in the mineralization and structural organization of enamel.
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| MYOM2 |
- |
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The giant protein titin, together with its associated proteins, interconnects the major structure of sarcomeres, the M bands and Z …
|
View
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| SLC25A10 |
- |
|
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The dicarboxylate carrier catalyzes the transport of dicarboxylates such as malate and succinate across the mitochondrial membrane in exchange for …
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View
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| COPS7B |
- |
|
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Component of the COP9 signalosome complex (CSN), a complex involved in various cellular and developmental processes. The CSN complex is …
|
View
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| PROK1 |
- |
|
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Endocrine gland-derived vascular endothelial growth factor (EG-VEGF) induces proliferation, migration, and fenestration in capillary endothelial cells derived from endocrine glands. …
|
View
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| ZFP64 |
- |
|
|
May function as a transcription factor.
|
View
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| LMTK2 |
- |
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-
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View
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| LEPREL2 |
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-
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View
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| - |
- |
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-
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View
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| WDR18 |
- |
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This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 …
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View
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| EDN1 |
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-
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| GCNT3 |
- |
|
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This enzyme catalyzes O-glycan branch synthesis of the core 2 and core 4 type in mucins and controls expression of …
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| HOXD9 |
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|
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This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors …
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| - |
- |
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-
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View
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| - |
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-
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View
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| ANXA2 |
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|
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This gene encodes a member of the annexin family. Members of this calcium-dependent phospholipid-binding protein family play a role in …
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View
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| - |
- |
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-
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View
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| SRPK1 |
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This gene encodes a serine/arginine protein kinase specific for the SR (serine/arginine-rich domain) family of splicing factors. The protein localizes …
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| - |
- |
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-
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View
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| - |
- |
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-
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View
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| TEX13A |
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-
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View
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| - |
- |
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-
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View
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| C21orf22 |
- |
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-
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View
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| LIAS |
- |
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The protein encoded by this gene belongs to the biotin and lipoic acid synthetases family. It localizes in mitochondrion and …
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| RAD54L |
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The protein encoded by this gene belongs to the DEAD-like helicase superfamily, and shares similarity with Saccharomyces cerevisiae Rad54, a …
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| NOL3 |
- |
|
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The nuclear isoform (1/Nop30) may be involved in RNA splicing and the cytoplasmic isoform (2/Myp) may inhibit apoptosis.
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| C21orf106 |
- |
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May provide positional cues for axon pathfinding and patterning in the central nervous system.
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| - |
- |
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-
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View
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| PHF7 |
- |
|
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Spermatogenesis is a complex process regulated by extracellular and intracellular factors as well as cellular interactions among interstitial cells of …
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View
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| NOLA1 |
- |
|
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This gene is a member of the H/ACA snoRNPs (small nucleolar ribonucleoproteins) gene family. snoRNPs are involved in various aspects …
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View
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| DHX57 |
- |
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-
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View
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| OSBPL2 |
- |
|
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This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Most members contain …
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View
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| ZNF253 |
- |
|
|
May function as a transcription factor. Seem to have a transcriptional repression activity.
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View
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| SEL1L |
- |
|
|
May play a role in Notch signaling (By similarity).
|
View
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| - |
- |
|
|
The protein encoded by this gene contains a catalytic domain of flavin adenine dinucleotide synthetase, which catalyzes the adenylation of …
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View
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| - |
- |
|
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-
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View
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| GTPBP2 |
- |
|
|
GTP-binding proteins, or G proteins, constitute a superfamily capable of binding GTP or GDP. G proteins are activated by binding …
|
View
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| ZNF258 |
- |
|
|
-
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View
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| - |
- |
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-
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View
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| TNPO2 |
- |
|
|
Probably function in nuclear protein import as nuclear transport receptor. Serves as receptor for nuclear localization signals (NLS) in cargo …
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View
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| CDKN1B |
- |
|
|
This gene encodes a cyclin-dependent kinase inhibitor, which shares a limited similarity with CDK inhibitor CDKN1A/p21. The encoded protein binds …
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View
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| SLC5A11 |
- |
|
|
-
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View
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| RFC3 |
- |
|
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The elongation of primed DNA templates by DNA polymerase delta and DNA polymerase epsilon requires the accessory proteins proliferating cell …
|
View
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| MAPRE2 |
- |
|
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The protein encoded by this gene shares significant homology to the adenomatous polyposis coli (APC) protein-binding EB1 gene family. The …
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View
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| - |
- |
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-
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View
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| TEP1 |
- |
|
|
This gene product is a component of the ribonucleoprotein complex responsible for telomerase activity which catalyzes the addition of new …
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View
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| FBXL15 |
- |
|
|
Probably recognizes and binds to some phosphorylated proteins and promotes their ubiquitination and degradation.
|
View
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| CHFR |
- |
|
|
E3 ubiquitin-protein ligase required to transiently arrest cells in early prophase when they are exposed to microtubule poisons. Acts in …
|
View
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| SLC25A31 |
- |
|
|
-
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View
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| SGCZ |
- |
|
|
The zeta-sarcoglycan gene measures over 465 kb and localizes to 8p22. This protein is part of the sarcoglycan complex, a …
|
View
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| SUZ12 |
- |
|
|
This zinc finger gene has been identified at the breakpoints of a recurrent chromosomal translocation reported in endometrial stromal sarcoma. …
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View
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| CAST |
- |
|
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The protein encoded by this gene is an endogenous calpain (calcium-dependent cysteine protease) inhibitor. It consists of an N-terminal domain …
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View
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| RAC1 |
- |
|
|
The protein encoded by this gene is a GTPase which belongs to the RAS superfamily of small GTP-binding proteins. Members …
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View
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| OTX1 |
- |
|
|
This gene encodes a member of the bicoid sub-family of homeodomain-containing transcription factors. The encoded protein acts as a transcription …
|
View
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| - |
- |
|
|
-
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View
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| MRPL30 |
- |
|
|
Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) …
|
View
|
| PPP1R3C |
- |
|
|
Protein phosphatase-1 (PP1; see MIM 176875) participates in the regulation of a wide variety of cellular functions by reversible protein …
|
View
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| - |
- |
|
|
-
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View
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| SNN |
- |
|
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-
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View
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| CNOT7 |
- |
|
|
The protein encoded by this gene binds to an anti-proliferative protein, B-cell translocation protein 1, which negatively regulates cell proliferation. …
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View
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| RASA1 |
- |
|
|
The protein encoded by this gene is located in the cytoplasm and is part of the GAP1 family of GTPase-activating …
|
View
|
| - |
- |
|
|
-
|
View
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| C9orf4 |
- |
|
|
-
|
View
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| - |
- |
|
|
-
|
View
|
| MRPL33 |
- |
|
|
Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) …
|
View
|
| - |
- |
|
|
-
|
View
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| NT5C1B |
- |
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Dephosphorylates the 5' and 2'(3')-phosphates of deoxyribonucleotides. Helps to regulate adenosine levels (By similarity).
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| SYNGR4 |
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This gene encodes an integral membrane protein. The gene belongs to the synaptogyrin gene family. Like other members of the …
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| CABLES1 |
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CABLES1 is a cyclin-dependent kinase (CDK)-binding protein that plays a role in proliferation and/or differentiation (Zukerberg et al., 2004).[supplied by …
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| RAB5C |
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Protein transport. Probably involved in vesicular traffic (By similarity).
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| ELK4 |
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This gene is a member of the Ets family of transcription factors and of the ternary complex factor (TCF) subfamily. …
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| TRPM2 |
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The protein encoded by this gene is a calcium-permeable cation channel that is regulated by free intracellular ADP-ribose. The encoded …
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| KLHL6 |
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