| PTPRO |
- |
|
|
This gene encodes a receptor-type protein tyrosine phosphatase containing a single intracellular catalytic domain with a characteristic signature motif. The …
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| RNF135 |
- |
|
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The protein encoded by this gene contains a RING finger domain, a motif present in a variety of functionally distinct …
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View
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| ITPKC |
- |
|
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Inositol 1,4,5-trisphosphate 3-kinase (ITPK) catalyzes the phosphorylation of Ins(1,4,5)P3 to Ins(1,3,4,5)P4, both of which are modulators of calcium homeostasis. ITPK …
|
View
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| - |
- |
|
|
Probably involved in membrane trafficking between the endoplasmic reticulum and the Golgi.
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| MMD |
- |
|
|
This protein is expressed by in vitro differentiated macrophages but not freshly isolated monocytes. Although sequence analysis identifies seven potential …
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View
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| ZNF84 |
- |
|
|
May be involved in transcriptional regulation.
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View
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| OPRS1 |
- |
|
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This gene encodes a receptor protein that interacts with a variety of psychotomimetic drugs, including cocaine and amphetamines. The receptor …
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View
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| TCTEL1 |
- |
|
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-
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View
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| NALP5 |
- |
|
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This gene encodes a protein that belongs to the NALP family of cytoplasmic proteins. A mouse gene that encodes a …
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View
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| PLEC1 |
- |
|
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The product of this gene belongs to the plakin or cytolinker family of genes. The encoded protein is involved in …
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| MAGEC2 |
- |
|
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This gene is related to members of the MAGEC gene family. It is not expressed in normal tissues, except for …
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| - |
- |
|
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-
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View
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| ZNF425 |
- |
|
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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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| - |
- |
|
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-
|
View
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| - |
- |
|
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-
|
View
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| THSD6 |
- |
|
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-
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View
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| - |
- |
|
|
-
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View
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| RFPL2 |
- |
|
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-
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View
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| GNPAT |
- |
|
|
-
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View
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| - |
- |
|
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-
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View
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| TBR1 |
- |
|
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This gene is a member of a conserved family of genes that share a common DNA-binding domain, the T-box. T-box …
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| TAF7 |
- |
|
|
The intronless gene for this transcription coactivator is located between the protocadherin beta and gamma gene clusters on chromosome 5. …
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View
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| C10orf57 |
- |
|
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-
|
View
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| NRBP |
- |
|
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-
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View
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| CCL21 |
- |
|
|
This gene is one of several CC cytokine genes clustered on the p-arm of chromosome 9. Cytokines are a family …
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| LRRC3B |
- |
|
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-
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| DGKQ |
- |
|
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The protein encoded by this gene contains three cysteine-rich domains, a proline-rich region, and a pleckstrin homology domain with an …
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| CALB2 |
- |
|
|
Calbindin 2 (calretinin), closely related to calbindin 1, is an intracellular calcium-binding protein belonging to the troponin C superfamily. Calbindin …
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View
|
| OPHN1 |
- |
|
|
Oligophrenin 1 has 25 exons and encodes a Rho-GTPase-activating protein. The Rho proteins are important mediators of intracellular signal transduction, …
|
View
|
| C6orf106 |
- |
|
|
-
|
View
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| WDFY4 |
- |
|
|
-
|
View
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| DNCI1 |
- |
|
|
The intermediate chains seem to help dynein bind to dynactin 150 kDa component. May play a role in mediating the …
|
View
|
| KIAA1161 |
- |
|
|
-
|
View
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| ANXA10 |
- |
|
|
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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View
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| SLC31A1 |
- |
|
|
Copper is an element essential for life, but excessive copper can be toxic or even lethal to the cell. Therefore, …
|
View
|
| - |
- |
|
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-
|
View
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| SNAG1 |
- |
|
|
This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which …
|
View
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| MCART1 |
- |
|
|
-
|
View
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| CTPS |
- |
|
|
The catalytic conversion of UTP to CTP is accomplished by the enzyme cytidine-5-prime-triphosphate synthetase. The enzyme is important in the …
|
View
|
| MRPL20 |
- |
|
|
Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) …
|
View
|
| COPZ1 |
- |
|
|
The zeta subunit may be involved in regulating the coat assembly and, hence, the rate of biosynthetic protein transport due …
|
View
|
| - |
- |
|
|
-
|
View
|
| RASGRF2 |
- |
|
|
RAS (MIM 190020) GTPases cycle between an inactive GDP-bound state and an active GTP-bound state. Guanine-nucleotide exchange factors (GEFs), such …
|
View
|
| EIF4EBP2 |
- |
|
|
Regulates eIF4E activity by preventing its assembly into the eIF4F complex. Mediates the regulation of protein translation by hormones, growth …
|
View
|
| SCO1 |
- |
|
|
Mammalian cytochrome c oxidase (COX) catalyzes the transfer of reducing equivalents from cytochrome c to molecular oxygen and pumps protons …
|
View
|
| SLC9A8 |
- |
|
|
Involved in pH regulation to eliminate acids generated by active metabolism or to counter adverse environmental conditions. Major proton extruding …
|
View
|
| SYNPO |
- |
|
|
Synaptopodin is an actin-associated protein that may play a role in actin-based cell shape and motility. The name synaptopodin derives …
|
View
|
| - |
- |
|
|
-
|
View
|
| TFB1M |
- |
|
|
The transcription of genes from mitochondrial DNA requires a mitochondrial RNA polymerase (see POLRMT, MIM 601778) and a DNA-binding transcription …
|
View
|
| ATAD1 |
- |
|
|
-
|
View
|
| APG9L1 |
- |
|
|
Plays a role in autophagy (By similarity).
|
View
|
| HSPA12A |
- |
|
|
-
|
View
|
| HSH2D |
- |
|
|
T-cell activation requires 2 signals: recognition of antigen by the T-cell receptor (see TCR; MIM 186880) and a costimulatory signal …
|
View
|
| - |
- |
|
|
-
|
View
|
| C15orf20 |
- |
|
|
-
|
View
|
| SMOC2 |
- |
|
|
-
|
View
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| CCNF |
- |
|
|
This gene encodes a member of the cyclin family. Cyclins are important regulators of cell cycle transitions through their ability …
|
View
|
| - |
- |
|
|
-
|
View
|
| GBA3 |
- |
|
|
Cytosolic beta-glucosidase (EC 3.2.1.21) is a predominantly liver enzyme that efficiently hydrolyzes beta-D-glucoside and beta-D-galactoside but not any known physiologic …
|
View
|
| NDFIP1 |
- |
|
|
The protein encoded by this gene belongs to a small group of evolutionarily conserved proteins with three transmembrane domains. It …
|
View
|
| PILRA |
- |
|
|
Cell signaling pathways rely on a dynamic interaction between activating and inhibiting processes. SHP-1-mediated dephosphorylation of protein tyrosine residues is …
|
View
|
| FUT5 |
- |
|
|
May catalyze alpha-1,3 glycosidic linkages involved in the expression of VIM-2, Lewis X/SSEA-1 and sialyl Lewis X antigens.
|
View
|
| - |
- |
|
|
-
|
View
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| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| ZDHHC8 |
- |
|
|
-
|
View
|
| COX7A1 |
- |
|
|
Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c …
|
View
|
| PTPN23 |
- |
|
|
May act as a negative regulator of Ras-mediated mitogenic activity.
|
View
|
| TRGV5 |
- |
|
|
-
|
View
|
| SCGB1A1 |
- |
|
|
Binds phosphatidylcholine, phosphatidylinositol, polychlorinated biphenyls (PCB) and weakly progesterone, potent inhibitor of phospholipase A2.
|
View
|
| DACH2 |
- |
|
|
Transcription factor that is involved in regulation of organogenesis. Seems to be a regulator for SIX1 and SIX6. Seems to …
|
View
|
| POLR3K |
- |
|
|
This gene encodes a small essential subunit of RNA polymerase III, the polymerase responsible for synthesizing transfer and small ribosomal …
|
View
|
| - |
- |
|
|
-
|
View
|
| U2AF1L2 |
- |
|
|
This gene encodes U2AF small subunit related protein 2 which is an essential splicing factor. This protein is associated with …
|
View
|
| IL31RA |
- |
|
|
-
|
View
|
| STEAP2 |
- |
|
|
-
|
View
|
| ZFP95 |
- |
|
|
This gene encodes a zinc finger protein of the Kruppel family. The protein contains a SCAN box and a KRAB …
|
View
|
| HKR2 |
- |
|
|
-
|
View
|
| ZNF493 |
- |
|
|
-
|
View
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| - |
- |
|
|
-
|
View
|
| ZRANB3 |
- |
|
|
Members of the RAB3 protein family (see RAB3A; MIM 179490) are implicated in regulated exocytosis of neurotransmitters and hormones. RAB3GAP, …
|
View
|
| SMAP1 |
- |
|
|
The protein encoded by this gene is similar to the mouse stromal membrane-associated protein-1. This similarity suggests that this human …
|
View
|
| BTG4 |
- |
|
|
The protein encoded by this gene is a member of the BTG/Tob family. This family has structurally related proteins that …
|
View
|
| DAP |
- |
|
|
DAP gene encodes a basic, proline-rich, 15-kD protein. Death-associated protein acts as a positive mediator of programmed cell death that …
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| WRNIP1 |
- |
|
|
Werner's syndrome is a rare autosomal recessive disorder characterized by premature aging. The protein encoded by this gene interacts with …
|
View
|
| FAM50A |
- |
|
|
May be a DNA-binding protein or transcriptional factor.
|
View
|
| - |
- |
|
|
-
|
View
|
| IFIT5 |
- |
|
|
-
|
View
|
| TAC3 |
- |
|
|
Tachykinins are active peptides which excite neurons, evoke behavioral responses, are potent vasodilators and secretagogues, and contract (directly or indirectly) …
|
View
|
| QKI |
- |
|
|
-
|
View
|
| BUB1 |
- |
|
|
This gene encodes a kinase involved in spindle checkpoint function. The kinase functions in part by phosphorylating a member of …
|
View
|
| TMEM16B |
- |
|
|
-
|
View
|
| PEX14 |
- |
|
|
Component of the peroxisomal translocation machinery with PEX13 and PEX17. Interacts with both the PTS1 and PTS2 receptors. Binds directly …
|
View
|
| PCANAP6 |
- |
|
|
-
|
View
|
| - |
- |
|
|
DISCONTINUED: LocusId 84344 was defined by AK026836.1, which contains LINE/L1 and SINE/Alu repeat sequences and does not appear to represent …
|
View
|
| KIAA0152 |
- |
|
|
-
|
View
|
| F8A1 |
- |
|
|
This gene is contained entirely within intron 22 of the factor VIII gene; spans less than 2 kb, and is …
|
View
|
| NR3C1 |
- |
|
|
The protein encoded by this gene is a receptor for glucocorticoids and can act as both a transcription factor and …
|
View
|
| - |
- |
|
|
-
|
View
|
| PIK3CB |
- |
|
|
Phosphorylates PtdIns, PtdIns4P and PtdIns(4,5)P2 with a preference for PtdIns(4,5)P2.
|
View
|
| NEU1 |
- |
|
|
The protein encoded by this gene encodes the lysosomal enzyme, which cleaves terminal sialic acid residues from substrates such as …
|
View
|
| COL9A3 |
- |
|
|
This gene encodes one of the three alpha chains of type IX collagen, the major collagen component of hyaline cartilage. …
|
View
|
| ARL8 |
- |
|
|
ARL8 belongs to a family of proteins that are structurally similar to ADP-ribosylation factors (ARFs; see MIM 103180). ARLs and …
|
View
|
| THAP6 |
- |
|
|
-
|
View
|
| MS4A1 |
- |
|
|
This gene encodes a member of the membrane-spanning 4A gene family. Members of this nascent protein family are characterized by …
|
View
|
| RHBDL2 |
- |
|
|
The protein encoded by this gene is a member of the rhomboid family of integral membrane proteins. This family contains …
|
View
|
| - |
- |
|
|
-
|
View
|
| RTN4RL1 |
- |
|
|
-
|
View
|
| TBCC |
- |
|
|
Cofactor C is one of four proteins (cofactors A, D, E, and C) involved in the pathway leading to correctly …
|
View
|
| MAFK |
- |
|
|
The developmentally regulated expression of the globin genes depends on upstream regulatory elements termed locus control regions (LCRs). LCRs are …
|
View
|
| NDUFA11 |
- |
|
|
Transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be …
|
View
|
| KCNG1 |
- |
|
|
Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their …
|
View
|
| FZD9 |
- |
|
|
Members of the 'frizzled' gene family encode 7-transmembrane domain proteins that are receptors for Wnt signaling proteins. The FZD9 gene …
|
View
|
| - |
- |
|
|
-
|
View
|
| ZNF436 |
- |
|
|
May be involved in transcriptional regulation.
|
View
|
| C9orf46 |
- |
|
|
-
|
View
|
| PPIL3 |
- |
|
|
This gene encodes a member of the cyclophilin family. Cyclophilins catalyze the cis-trans isomerization of peptidylprolyl imide bonds in oligopeptides. …
|
View
|
| - |
- |
|
|
-
|
View
|
| ATXN7L2 |
- |
|
|
-
|
View
|
| ZNF600 |
- |
|
|
-
|
View
|
| LMO3 |
- |
|
|
-
|
View
|
| S100A4 |
- |
|
|
The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. …
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| FRAT2 |
- |
|
|
The protein encoded by this intronless gene belongs to the GSK-3-binding protein family. Studies show that this protein plays a …
|
View
|
| PTCH |
- |
|
|
This gene encodes a member of the patched gene family. The encoded protein is the receptor for sonic hedgehog, a …
|
View
|
| SLC35F2 |
- |
|
|
-
|
View
|
| FBXO36 |
- |
|
|
Members of the F-box protein family, such as FBXO36, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, …
|
View
|
| GYS1 |
- |
|
|
Transfers the glycosyl residue from UDP-Glc to the nonreducing end of alpha-1,4-glucan.
|
View
|
| - |
- |
|
|
-
|
View
|
| SPTLC1 |
- |
|
|
Serine palmitoyltransferase, which consists of two different subunits, is the key enzyme in sphingolipid biosynthesis. It converts L-serine and palmitoyl-CoA …
|
View
|
| SLC18A1 |
- |
|
|
Involved in the vesicular transport of biogenic amines.
|
View
|
| PLAC4 |
- |
|
|
-
|
View
|
| MT1F |
- |
|
|
Metallothioneins have a high content of cysteine residues that bind various heavy metals; these proteins are transcriptionally regulated by both …
|
View
|
| GLI1 |
- |
|
|
This gene encodes a protein which is a member of the Kruppel family of zinc finger proteins. The function of …
|
View
|
| TAT |
- |
|
|
This nuclear gene encodes a mitochondrial protein tyrosine aminotransferase which is present in the liver and catalyzes the conversion of …
|
View
|
| CLPTM1 |
- |
|
|
-
|
View
|
| SOS2 |
- |
|
|
The RAS oncogene (MIM 190020) is mutated in nearly one-third of all human cancers. Members of the RAS superfamily are …
|
View
|
| EVL |
- |
|
|
Enhances actin nucleation and polymerization (By similarity).
|
View
|
| SNRPB2 |
- |
|
|
The protein encoded by this gene associates with stem loop IV of U2 small nuclear ribonucleoprotein (U2 snRNP) in the …
|
View
|
| SIX2 |
- |
|
|
May be involved in limb tendon and ligament development (By similarity).
|
View
|
| CDC42EP3 |
- |
|
|
CDC42, a small Rho GTPase, regulates the formation of F-actin-containing structures through its interaction with the downstream effector proteins. The …
|
View
|
| HOXA7 |
- |
|
|
In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, …
|
View
|
| COL4A2 |
- |
|
|
This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. The …
|
View
|
| YME1L1 |
- |
|
|
The protein encoded by this gene is the human ortholog of yeast mitochondrial AAA metalloprotease, Yme1p. It is localized in …
|
View
|
| KCNJ15 |
- |
|
|
Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein …
|
View
|
| C9orf10OS |
- |
|
|
-
|
View
|
| FBXL10 |
- |
|
|
This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, …
|
View
|
| SFTPD |
- |
|
|
-
|
View
|
| CYP26A1 |
- |
|
|
This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze …
|
View
|
| - |
- |
|
|
-
|
View
|
| SEC11L1 |
- |
|
|
Part of the signal peptidase complex (SPC), exact function is not known.
|
View
|
| C21orf42 |
- |
|
|
-
|
View
|
| HRSP12 |
- |
|
|
Endoribonuclease responsible for the inhibition of the translation by cleaving mRNA. Inhibits cell-free protein synthesis. Cleaves phosphodiester bonds only in …
|
View
|
| - |
- |
|
|
Ghrelin is an endogenous ligand for the growth hormone secretagogue receptor (GHSR; MIM 601898) and is involved in regulating GH …
|
View
|
| LCN1 |
- |
|
|
The protein encoded by this gene belongs to the lipocalin family. Lipocalins are a group of extracellular proteins that are …
|
View
|
| C10orf84 |
- |
|
|
-
|
View
|
| IQCF2 |
- |
|
|
-
|
View
|
| BSCL2 |
- |
|
|
-
|
View
|
| TNFAIP6 |
- |
|
|
The protein encoded by this gene is a secretory protein that contains a hyaluronan-binding domain, and thus is a member …
|
View
|
| TESK1 |
- |
|
|
This gene product is a serine/threonine protein kinase that contains an N-terminal protein kinase domain and a C-terminal proline-rich domain. …
|
View
|
| - |
- |
|
|
-
|
View
|
| CHMP6 |
- |
|
|
-
|
View
|
| HDAC3 |
- |
|
|
Histones play a critical role in transcriptional regulation, cell cycle progression, and developmental events. Histone acetylation/deacetylation alters chromosome structure and …
|
View
|
| C9orf80 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| EDG6 |
- |
|
|
Endothelial differentiation, G-protein-coupled receptor 6 may regulate lymphocyte cell signaling. It is a member of the lysophospholipid/lysosphingolipid receptor family.
|
View
|
| C14orf169 |
- |
|
|
-
|
View
|
| TRAPPC6B |
- |
|
|
May play a role in vesicular transport from endoplasmic reticulum to Golgi (By similarity).
|
View
|
| GFM1 |
- |
|
|
Eukaryotes contain two protein translational systems, one in the cytoplasm and one in the mitochondria. Mitochondrial translation is crucial for …
|
View
|
| ANKRD44 |
- |
|
|
-
|
View
|
| CBX1 |
- |
|
|
Heterochromatin protein-1 (HP1) is localized at heterochromatin sites, where it mediates gene silencing.[supplied by OMIM]
|
View
|
| - |
- |
|
|
-
|
View
|
| PRKACG |
- |
|
|
Cyclic AMP-dependent protein kinase (PKA) consists of two catalytic subunits and a regulatory subunit dimer. This gene encodes the gamma …
|
View
|
| H1F0 |
- |
|
|
Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist …
|
View
|
| OGFRL1 |
- |
|
|
-
|
View
|
| ENTPD3 |
- |
|
|
ENTPD3 is similar to E-type nucleotidases (NTPases). NTPases, such as CD39, mediate catabolism of extracellular nucleotides. ENTPD3 contains 4 apyrase-conserved …
|
View
|
| - |
- |
|
|
-
|
View
|
| C6orf68 |
- |
|
|
-
|
View
|
| C1orf64 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
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| ELA3B |
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Elastases form a subfamily of serine proteases that hydrolyze many proteins in addition to elastin. Humans have six elastase genes …
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| VCP |
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Valosin-containing protein (VCP) is a member of a family that includes putative ATP-binding proteins involved in vesicle transport and fusion, …
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| SPRR1B |
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| METAP1 |
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Removes the amino-terminal methionine from nascent proteins (By similarity).
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| TNNI3K |
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| LRCH4 |
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This gene encodes a protein that contains leucine-rich repeats (LRR) at its amino terminus and that is known to be …
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| SCGN |
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The encoded protein is a secreted calcium-binding protein which is found in the cytoplasm. It is related to calbindin D-28K …
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| PRKAA2 |
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The protein encoded by this gene is a catalytic subunit of the AMP-activated protein kinase (AMPK). AMPK is a heterotrimer …
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| XYLB |
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The protein encoded by this gene shares 22% sequence identity with Hemophilus influenzae xylulokinase, and even higher identity to other …
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| TAF13 |
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Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these …
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