| HPS6 |
- |
|
|
This intronless gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, …
|
View
|
| C7orf11 |
- |
|
|
-
|
View
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| - |
- |
|
|
-
|
View
|
| DHX36 |
- |
|
|
DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number …
|
View
|
| IER2 |
- |
|
|
-
|
View
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| TMSB4Y |
- |
|
|
This gene lies within the male specific region of chromosome Y. Its homolog on chromosome X escapes X inactivation and …
|
View
|
| FREM2 |
- |
|
|
-
|
View
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| KIAA0274 |
- |
|
|
-
|
View
|
| EXOSC4 |
- |
|
|
Component of the exosome 3'->5' exoribonuclease complex. Required for the 3'processing of the 7S pre-RNA to the mature 5.8S rRNA. …
|
View
|
| ATP6V0A2 |
- |
|
|
Part of the proton channel of V-ATPases (By similarity).
|
View
|
| CUGBP1 |
- |
|
|
The CUGBP1 gene encodes a member of the CELF family of RNA processing factors that regulates pre-mRNA splicing.[supplied by OMIM]
|
View
|
| UBE2M |
- |
|
|
The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination …
|
View
|
| - |
- |
|
|
Regulates the differentiation and proliferation of normal cells through the regulation of cell death.
|
View
|
| C1orf26 |
- |
|
|
-
|
View
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| - |
- |
|
|
-
|
View
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| - |
- |
|
|
-
|
View
|
| C11orf30 |
- |
|
|
-
|
View
|
| KCNU1 |
- |
|
|
-
|
View
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| C9orf55 |
- |
|
|
-
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View
|
| GNG4 |
- |
|
|
Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and …
|
View
|
| TBX10 |
- |
|
|
Probable transcriptional regulator involved in developmental processes.
|
View
|
| SEZ6 |
- |
|
|
-
|
View
|
| OSBPL10 |
- |
|
|
This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Like most members, …
|
View
|
| PECR |
- |
|
|
Participates in chain elongation of fatty acids. Has no 2,4-dienoyl-CoA reductase activity.
|
View
|
| - |
- |
|
|
-
|
View
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| ST8SIA6 |
- |
|
|
Prefers O-glycans to N-glycans or glycolipids as acceptor substrates. The minimal acceptor substrate is the NeuAc- alpha-2,3(6)-Gal sequence at the …
|
View
|
| GPS2 |
- |
|
|
The protein encoded by this gene is predicted and it includes two isoforms resulting from two alternatively spliced transcript variants.
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View
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| NUCB1 |
- |
|
|
Major calcium-binding protein of the Golgi. May have a role in calcium homeostasis (By similarity).
|
View
|
| - |
- |
|
|
-
|
View
|
| TAF1A |
- |
|
|
Initiation of transcription by RNA polymerase I requires the formation of a complex composed of the TATA-binding protein (TBP) and …
|
View
|
| PRDX3 |
- |
|
|
This gene encodes a protein with antioxidant function and is localized in the mitochondrion. This gene shows significant nucleotide sequence …
|
View
|
| - |
- |
|
|
-
|
View
|
| PGM2L1 |
- |
|
|
-
|
View
|
| CHM |
- |
|
|
The choroideremia gene encodes for a protein, the Rab escort protein-1 (REP1), which is involved in membrane trafficking.[supplied by OMIM]
|
View
|
| SIM2 |
- |
|
|
SIM1 and SIM2 genes are Drosophila single-minded (sim) gene homologs. The Drosophila sim gene encodes a transcription factor that is …
|
View
|
| FKBP6 |
- |
|
|
The protein encoded by this gene is a member of the immunophilin protein family, which play a role in immunoregulation …
|
View
|
| H2AFV |
- |
|
|
Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist …
|
View
|
| SOCS7 |
- |
|
|
SOCS family proteins form part of a classical negative feedback system that regulates cytokine signal transduction.
|
View
|
| - |
- |
|
|
-
|
View
|
| PKP4 |
- |
|
|
Armadillo-like proteins are characterized by a series of armadillo repeats, first defined in the Drosophila 'armadillo' gene product, that are …
|
View
|
| - |
- |
|
|
ENO1B is an isoform of the glycolytic enzyme enolase (2-phospho-D-glycerate hydrolase; EC 4.2.1.11). It is a member of the alpha …
|
View
|
| C1orf76 |
- |
|
|
-
|
View
|
| CDCA3 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| C7orf16 |
- |
|
|
Inhibits protein phosphatase-2A and protein phosphatase- 1.
|
View
|
| FAM27C |
- |
|
|
-
|
View
|
| DLEU7 |
- |
|
|
-
|
View
|
| CASP5 |
- |
|
|
This gene encodes a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role …
|
View
|
| ZNF239 |
- |
|
|
MOK2 proteins are DNA- and RNA-binding proteins that are mainly associated with nuclear RNP components, including the nucleoli and extranucleolar …
|
View
|
| OXCT1 |
- |
|
|
The mitochondrial matrix enzyme 3-oxoacid CoA transferase is homodimeric. It is a key enzyme in the extrahepatic utilization of ketone …
|
View
|
| RGR |
- |
|
|
This gene encodes a putative retinal G-protein coupled receptor. The gene is a member of the opsin subfamily of the …
|
View
|
| CUL3 |
- |
|
|
Involved in ubiquitination of cyclin E and, in complex with RBX1, of cyclin D1 (in vitro) thus involved in regulation …
|
View
|
| PRKCQ |
- |
|
|
Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and …
|
View
|
| SF3B1 |
- |
|
|
This gene encodes subunit 1 of the splicing factor 3b protein complex. Splicing factor 3b, together with splicing factor 3a …
|
View
|
| - |
- |
|
|
-
|
View
|
| C13orf1 |
- |
|
|
-
|
View
|
| RNF182 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| TSPYL1 |
- |
|
|
-
|
View
|
| ZADH1 |
- |
|
|
May function as NADPH-dependent oxidoreductase.
|
View
|
| Kcnb2 |
- |
|
|
delayed rectifier potassium channel [RGD]
|
View
|
| TALDO1 |
- |
|
|
Transaldolase 1 is a key enzyme of the nonoxidative pentose phosphate pathway providing ribose-5-phosphate for nucleic acid synthesis and NADPH …
|
View
|
| - |
- |
|
|
-
|
View
|
| BAT2D1 |
- |
|
|
-
|
View
|
| RFC4 |
- |
|
|
The elongation of primed DNA templates by DNA polymerase delta and DNA polymerase epsilon requires the accessory proteins proliferating cell …
|
View
|
| C18orf51 |
- |
|
|
-
|
View
|
| ACADVL |
- |
|
|
The ACADVL gene product is targetted to the inner mitochondrial membrane where it catalyzes the first step of the mitochondrial …
|
View
|
| KRT18 |
- |
|
|
KRT18 encodes the type I intermediate filament chain keratin 18. Keratin 18, together with its filament partner keratin 8, are …
|
View
|
| - |
- |
|
|
-
|
View
|
| PLEKHG3 |
- |
|
|
-
|
View
|
| PCDHAC2 |
- |
|
|
This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on …
|
View
|
| - |
- |
|
|
TBKBP1 is an adaptor protein that binds to TBK1 (MIM 604834) and is part of the interaction network in the …
|
View
|
| RASAL2 |
- |
|
|
This gene encodes a protein that contains the GAP-related domain (GRD), a characteristic domain of GTPase-activating proteins (GAPs). GAPs function …
|
View
|
| RWDD1 |
- |
|
|
-
|
View
|
| RNF144 |
- |
|
|
The protein encoded by this protein contains a RING finger, a motif known to be involved in protein-DNA and protein-protein …
|
View
|
| UPK1A |
- |
|
|
The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. …
|
View
|
| TUSC3 |
- |
|
|
This gene is a candidate tumor suppressor gene. It is located within a homozygously deleted region of a metastatic prostate …
|
View
|
| SPTA1 |
- |
|
|
Spectrin is the major constituent of the cytoskeletal network underlying the erythrocyte plasma membrane. It associates with band 4.1 and …
|
View
|
| SPINK6 |
- |
|
|
-
|
View
|
| ACCN5 |
- |
|
|
This gene belongs to the amiloride-sensitive Na+ channel and degenerin (NaC/DEG) family, members of which have been identified in many …
|
View
|
| RBM12 |
- |
|
|
This gene encodes a protein that contains several RNA-binding motifs, potential transmembrane domains, and proline-rich regions. This gene and the …
|
View
|
| - |
- |
|
|
-
|
View
|
| Ltb4dh |
- |
|
|
may play a role in inhibition of chemically induced tumorigenesis [RGD]
|
View
|
| - |
- |
|
|
This gene encodes a member of the IGF-II mRNA-binding protein (IMP) family. The protein encoded by this gene contains four …
|
View
|
| ROCK2 |
- |
|
|
The protein encoded by this gene is a serine/threonine kinase that regulates cytokinesis, smooth muscle contraction, the formation of actin …
|
View
|
| - |
- |
|
|
-
|
View
|
| EEF1D |
- |
|
|
This gene encodes a subunit of the elongation factor-1 complex, which is responsible for the enzymatic delivery of aminoacyl tRNAs …
|
View
|
| TLE2 |
- |
|
|
Transcriptional corepressor that binds to a number of transcription factors. Inhibits the transcriptional activation mediated by CTNNB1 and TCF family …
|
View
|
| DNAI1 |
- |
|
|
The inner- and outer-arm dyneins, which bridge between the doublet microtubules in axonemes, are the force-generating proteins responsible for the …
|
View
|
| B3GNT7 |
- |
|
|
-
|
View
|
| AIF1 |
- |
|
|
This gene is induced by cytokines and interferon. Its protein product is thought to be involved in negative regulation of …
|
View
|
| NKD1 |
- |
|
|
In the mouse, Nkd is a Dishevelled (see DVL1; MIM 601365)-binding protein that functions as a negative regulator of the …
|
View
|
| - |
- |
|
|
-
|
View
|
| CYP2D6 |
- |
|
|
This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze …
|
View
|
| REG3G |
- |
|
|
Might be a stress protein involved in the control of bacterial proliferation (By similarity).
|
View
|
| - |
- |
|
|
-
|
View
|
| PIP5K2C |
- |
|
|
-
|
View
|
| FAM27A |
- |
|
|
-
|
View
|
| RIT1 |
- |
|
|
Binds GTP.
|
View
|
| CYFIP2 |
- |
|
|
-
|
View
|
| C21orf69 |
- |
|
|
-
|
View
|
| TLR2 |
- |
|
|
The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role …
|
View
|
| - |
- |
|
|
-
|
View
|
| TP73L |
- |
|
|
Acts as a sequence specific DNA binding transcriptional activator or repressor. The isoforms contain a varying set of transactivation and …
|
View
|
| ATIC |
- |
|
|
-
|
View
|
| OR2A9P |
- |
|
|
Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a …
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| MAPRE1 |
- |
|
|
The protein encoded by this gene was first identified by its binding to the APC protein which is often mutated …
|
View
|
| - |
- |
|
|
-
|
View
|
| NEDD4L |
- |
|
|
-
|
View
|
| SLC1A3 |
- |
|
|
Transports L-glutamate and also L- and D-aspartate. Essential for terminating the postsynaptic action of glutamate by rapidly removing released glutamate …
|
View
|
| HOXC6 |
- |
|
|
This gene belongs to the homeobox family, members of which encode a highly conserved family of transcription factors that play …
|
View
|
| COPG2 |
- |
|
|
The coatomer is a cytosolic protein complex that binds to dilysine motifs and reversibly associates with Golgi non- clathrin-coated vesicles, …
|
View
|
| S100A7L1 |
- |
|
|
May be involved in epidermal differentiation and inflammation and might therefore be important for the pathogenesis of psoriasis and other …
|
View
|
| CSTL1 |
- |
|
|
The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while …
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| C5orf4 |
- |
|
|
-
|
View
|
| C1orf68 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| GALNT7 |
- |
|
|
This gene encodes GalNAc transferase 7, a member of the GalNAc-transferase family. The enzyme encoded by this gene controls the …
|
View
|
| SLC17A5 |
- |
|
|
Primary solute translocator for anionic substances; particularly it is a free sialic acid transporter in the lysosomes (Probable).
|
View
|
| NDST1 |
- |
|
|
Catalyzes the N-sulfation and N-deacetylation of glucosamine of the glycosaminoglycan in heparan sulfate. Plays a role in determining the extent …
|
View
|
| SKIL |
- |
|
|
May have regulatory role in cell division or differentiation in response to extracellular signals.
|
View
|
| CEP2 |
- |
|
|
This gene codes for a centrosomal protein shown to be required for centriole-centriole cohesion during the cell cycle. The protein …
|
View
|
| SIN3A |
- |
|
|
The protein encoded by this gene is a transcriptional regulatory protein. It contains paired amphipathic helix (PAH) domains, which are …
|
View
|
| ANKRD7 |
- |
|
|
-
|
View
|
| NBS1 |
- |
|
|
Mutations in this gene are associated with Nijmegen breakage syndrome, an autosomal recessive chromosomal instability syndrome characterized by microcephaly, growth …
|
View
|
| OTUB1 |
- |
|
|
Otubains are deubiquitylating cysteine proteases (DUBs; see MIM 602519) that belong to the ovarian tumor (OTU) protein superfamily. Like other …
|
View
|
| - |
- |
|
|
Expression of this gene is induced by hexamethylene-bis-acetamide in vascular smooth muscle cells. The function of its protein product is …
|
View
|
| - |
- |
|
|
The protein encoded by this gene is a Src binding partner. It may represent a potential modulator of actin filament …
|
View
|
| - |
- |
|
|
-
|
View
|
| RNF111 |
- |
|
|
The protein encoded by this gene contains a RING finger domain, a motif known to be involved in protein-protein and …
|
View
|
| DMRTB1 |
- |
|
|
-
|
View
|
| RER1 |
- |
|
|
Involved in the retrieval of endoplasmic reticulum membrane proteins from the early Golgi compartment (By similarity).
|
View
|
| C14orf147 |
- |
|
|
-
|
View
|
| DEADC1 |
- |
|
|
-
|
View
|
| C14orf25 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| GCNT1P |
- |
|
|
-
|
View
|
| - |
- |
|
|
Specifically promotes functional cell surface expression of olfactory receptors, but not of other GPCRs (By similarity).
|
View
|
| ZNF284 |
- |
|
|
-
|
View
|
| LYZL6 |
- |
|
|
-
|
View
|
| DAB1 |
- |
|
|
The laminar organization of multiple neuronal types in the cerebral cortex is required for normal cognitive function. In mice, the …
|
View
|
| DLG2 |
- |
|
|
This gene encodes a member of the membrane-associated guanylate kinase (MAGUK) family. It heteromultimerizes with DLG4. With DLG4 it is …
|
View
|
| RNPC2 |
- |
|
|
The protein encoded by this gene is an RNA binding protein and possible splicing factor. The encoded protein is found …
|
View
|
| WIF1 |
- |
|
|
WNT proteins are extracellular signaling molecules involved in the control of embryonic development. This gene encodes a secreted protein, which …
|
View
|
| KIAA1622 |
- |
|
|
The protein encoded by this gene is a HEAT-like repeat-containing protein. The HEAT repeat is a tandemly repeated, 37-47 amino …
|
View
|
| IGKC |
- |
|
|
-
|
View
|
| CTSF |
- |
|
|
Cathepsins are papain family cysteine proteinases that represent a major component of the lysosomal proteolytic system. Cathepsins generally contain a …
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| ANXA7 |
- |
|
|
Annexin VII is a member of the annexin family of calcium-dependent phospholipid binding proteins. The Annexin VII gene contains 14 …
|
View
|
| - |
- |
|
|
-
|
View
|
| TNN |
- |
|
|
Involved in neurite outgrowth and cell migration in hippocampal explants (By similarity).
|
View
|
| SLC35F4 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| MMP11 |
- |
|
|
Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such …
|
View
|
| ADAMTSL3 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| DHX34 |
- |
|
|
DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number …
|
View
|
| EPHA5 |
- |
|
|
This gene belongs to the ephrin receptor subfamily of the protein-tyrosine kinase family. EPH and EPH-related receptors have been implicated …
|
View
|
| - |
- |
|
|
-
|
View
|
| CD3E |
- |
|
|
The CD3 complex mediates signal transduction.
|
View
|
| FXR2 |
- |
|
|
The protein encoded by this gene is a RNA binding protein containing two KH domains and one RCG box, which …
|
View
|
| HIPK1 |
- |
|
|
The protein encoded by this gene belongs to the Ser/Thr family of protein kinases and HIPK subfamily. It phosphorylates homeodomain …
|
View
|
| FNDC3A |
- |
|
|
-
|
View
|
| CSF2 |
- |
|
|
The protein encoded by this gene is a cytokine that controls the production, differentiation, and function of granulocytes and macrophages. …
|
View
|
| U2AF1L3 |
- |
|
|
-
|
View
|
| DDX11 |
- |
|
|
DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number …
|
View
|
| - |
- |
|
|
-
|
View
|
| PSMD10 |
- |
|
|
The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core …
|
View
|
| ARFIP2 |
- |
|
|
Putative target protein of ADP-ribosylation factor. Involved in membrane ruffling.
|
View
|
| BHMT |
- |
|
|
Betaine-homocysteine methyltransferase is a cytosolic enzyme that catalyzes the conversion of betaine and homocysteine to dimethylglycine and methionine, respectively. Defects …
|
View
|
| LMOD2 |
- |
|
|
-
|
View
|
| PTPNS1 |
- |
|
|
The protein encoded by this gene is a member of the signal-regulatory-protein (SIRP) family, and also belongs to the immunoglobulin …
|
View
|
| ZNF540 |
- |
|
|
-
|
View
|
| GAPDHS |
- |
|
|
Glyceraldehyde 3-phosphate dehydrogenases (EC 1.2.1.12), such as GAPDS, are NAD-dependent enzymes that remove hydrogen and add phosphate to glyceraldehyde 3-phosphate …
|
View
|
| LECT2 |
- |
|
|
This gene encodes a secreted, 16 kDa protein that acts as a chemotactic factor to neutrophils and stimulates the growth …
|
View
|
| ZNF561 |
- |
|
|
-
|
View
|
| CARD11 |
- |
|
|
The protein encoded by this gene belongs to the membrane-associated guanylate kinase (MAGUK) family, a class of proteins that functions …
|
View
|
| IL4I1 |
- |
|
|
The protein encoded by this gene shares the limited similarity with L-amino acid oxidase, and contains the conserved key amino …
|
View
|
| YWHAQ |
- |
|
|
This gene product belongs to the 14-3-3 family of proteins which mediate signal transduction by binding to phosphoserine-containing proteins. This …
|
View
|
| C13orf23 |
- |
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Alternative splicing has been observed at this gene locus and two transcript variants have been identified. Both variants encode the …
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| KCNC1 |
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The Shaker gene family of Drosophila encodes components of voltage-gated potassium channels and is comprised of four subfamilies. Based on …
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| PTPN22 |
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This gene encodes a protein tyrosine phosphatase which is expressed primarily in lymphoid tissues. This enzyme associates with the molecular …
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| RARRES2 |
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Retinoids exert biologic effects such as potent growth inhibitory and cell differentiation activities and are used in the treatment of …
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| USP36 |
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| NEURL |
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| SLC30A3 |
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Involved in accumulation of zinc in synaptic vesicles (By similarity).
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| - |
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| TSSC1 |
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This gene has been reported in PMID 9403053 as one of several tumor-suppressing subtransferable fragments located in the imprinted gene …
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| C15orf16 |
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Has deubiquitinating activity that is directed towards Lys-48 or Lys-63-linked polyubiquitin chains. Hydrolyzes both linear and branched forms of polyubiquitin …
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| DGUOK |
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In mammalian cells, the phosphorylation of purine deoxyribonucleosides is mediated predominantly by two deoxyribonucleoside kinases, cytosolic deoxycytidine kinase and mitochondrial …
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| COPG |
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The coatomer is a cytosolic protein complex that binds to dilysine motifs and reversibly associates with Golgi non- clathrin-coated vesicles, …
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