| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| PDE1B |
- |
|
|
Has a preference for cGMP as a substrate.
|
View
|
| CLCA3 |
- |
|
|
The protein encoded by this gene belongs to the calcium sensitive chloride conductance protein family. To date, all members of …
|
View
|
| - |
- |
|
|
-
|
View
|
| NTN2L |
- |
|
|
Netrins control guidance of CNS commissural axons and peripheral motor axons (By similarity).
|
View
|
| PKIG |
- |
|
|
The protein encoded by this gene is a member of the cAMP-dependent protein kinase (PKA) inhibitor family. Studies of a …
|
View
|
| - |
- |
|
|
-
|
View
|
| VMD2L3 |
- |
|
|
The VMD2 gene (MIM 607854) underlying vitelliform macular dystrophy and the 3 VMD2-like genes, VMD2L1 (MIM 607335), VMD2L2 (MIM 607336), …
|
View
|
| OPLAH |
- |
|
|
Catalyzes the cleavage of 5-oxo-L-proline to form L- glutamate coupled to the hydrolysis of ATP to ADP and inorganic phosphate.
|
View
|
| NOLA2 |
- |
|
|
This gene is a member of the H/ACA snoRNPs (small nucleolar ribonucleoproteins) gene family. snoRNPs are involved in various aspects …
|
View
|
| PIGR |
- |
|
|
The poly-Ig receptor is expressed on several glandular epithelia including those of liver and breast. It mediates transcellular transport of …
|
View
|
| MOCS2 |
- |
|
|
Eukaryotic molybdoenzymes use a unique molybdenum cofactor (MoCo) consisting of a pterin, termed molybdopterin, and the catalytically active metal molybdenum. …
|
View
|
| PLA2G1B |
- |
|
|
-
|
View
|
| CTSL2 |
- |
|
|
The protein encoded by this gene, a member of the peptidase C1 family, is a lysosomal cysteine proteinase that may …
|
View
|
| ZNF322B |
- |
|
|
-
|
View
|
| VAPA |
- |
|
|
The protein encoded by this gene is a type IV membrane protein. It is present in the plasma membrane and …
|
View
|
| - |
- |
|
|
Histone methyltransferase. Methylates Lys-20 of histone H4. H4 Lys-20 methylation represents a specific tag for epigenetic transcriptional repression. Nucleosomes are …
|
View
|
| TREML2P |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
This gene encodes a protein which contains multiple domains including a CXXC zinc finger, three PHD zinc fingers, two FY-rich …
|
View
|
| POLR1C |
- |
|
|
DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates.
|
View
|
| - |
- |
|
|
-
|
View
|
| USP2 |
- |
|
|
Ubiquitin (MIM 191339), a highly conserved protein involved in the regulation of intracellular protein breakdown, cell cycle regulation, and stress …
|
View
|
| PTGIR |
- |
|
|
The protein encoded by this gene is a member of the G-protein coupled receptor family 1 and has been shown …
|
View
|
| - |
- |
|
|
-
|
View
|
| G6PC3 |
- |
|
|
-
|
View
|
| ALDH1B1 |
- |
|
|
This protein belongs to the aldehyde dehydrogenases family of proteins. Aldehyde dehydrogenase is the second enzyme of the major oxidative …
|
View
|
| CDH18 |
- |
|
|
This gene encodes a type II classical cadherin from the cadherin superfamily of integral membrane proteins that mediate calcium-dependent cell-cell …
|
View
|
| - |
- |
|
|
-
|
View
|
| TDE2 |
- |
|
|
-
|
View
|
| PDE4DIP |
- |
|
|
-
|
View
|
| RND3 |
- |
|
|
Members of the Rho family of Ras-related GTPases, such as ARHE, regulate the organization of the actin cytoskeleton in response …
|
View
|
| ZNF409 |
- |
|
|
May function as a transcription factor.
|
View
|
| TTTY11 |
- |
|
|
-
|
View
|
| RIF1 |
- |
|
|
Required for checkpoint mediated arrest of cell cycle progression in response to DNA damage during S-phase (the intra-S- phase checkpoint). …
|
View
|
| RNF126 |
- |
|
|
The protein encoded by this gene contains a RING finger domain, a motif present in a variety of functionally distinct …
|
View
|
| - |
- |
|
|
-
|
View
|
| HDAC9 |
- |
|
|
Histones play a critical role in transcriptional regulation, cell cycle progression, and developmental events. Histone acetylation/deacetylation alters chromosome structure and …
|
View
|
| SLC25A18 |
- |
|
|
Involved in the transport of glutamate across the inner mitochondrial membrane. Glutamate is cotransported with H(+).
|
View
|
| UNC119 |
- |
|
|
This gene is specifically expressed in the photoreceptors in the retina. The encoded product shares strong homology with the C. …
|
View
|
| P2RY12 |
- |
|
|
The product of this gene belongs to the family of G-protein coupled receptors. This family has several receptor subtypes with …
|
View
|
| POLR3C |
- |
|
|
May direct with other members of the subcomplex RNA Pol III binding to the TFIIIB-DNA complex via the interactions between …
|
View
|
| - |
- |
|
|
-
|
View
|
| PKNOX1 |
- |
|
|
-
|
View
|
| MED19 |
- |
|
|
-
|
View
|
| MAL |
- |
|
|
The protein encoded by this gene is a highly hydrophobic integral membrane protein belonging to the MAL family of proteolipids. …
|
View
|
| - |
- |
|
|
-
|
View
|
| GLIS3 |
- |
|
|
Acts as both a repressor and activator of transcription. Binds to the consensus sequence 5'-GACCACCCAC-3' (By similarity).
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| C6orf59 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| DHX35 |
- |
|
|
DEAD box proteins characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number …
|
View
|
| KCTD9 |
- |
|
|
-
|
View
|
| FAM20B |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| SHC2 |
- |
|
|
Signaling adapter that couples activated growth factor receptors to signaling pathway in neurons. Involved in the signal transduction pathways of …
|
View
|
| HNRPA2B1 |
- |
|
|
This gene belongs to the A/B subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins …
|
View
|
| TNRC8 |
- |
|
|
-
|
View
|
| ECE1 |
- |
|
|
Endothelin-converting enzyme-1 is involved in the proteolytic processing of endothelin-1 (EDN1; MIM 131240), -2 (EDN2; MIM 131241), and -3 (EDN3; …
|
View
|
| GHRHR |
- |
|
|
This gene, expressed in the pituitary, encodes a receptor for growth hormone-releasing hormone. Binding of this hormone to the receptor …
|
View
|
| NEUROG1 |
- |
|
|
Appears to mediate neuronal differentiation.
|
View
|
| KRT25C |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| TFCP2L4 |
- |
|
|
This gene encodes a member of the grainyhead family of transcription factors. The encoded protein interacts with leader-binding protein 32 …
|
View
|
| - |
- |
|
|
-
|
View
|
| DEFB106A |
- |
|
|
Has antibacterial activity.
|
View
|
| MRRF |
- |
|
|
Responsible for the release of ribosomes from messenger RNA at the termination of protein biosynthesis. May increase the efficiency of …
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| KIAA1683 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| GARNL1 |
- |
|
|
Interacting partner of the transcription factor TCF3/isoform E12, mainly in the developing embryonic forebrain. May be an important transcriptional regulator …
|
View
|
| - |
- |
|
|
-
|
View
|
| CORO7 |
- |
|
|
-
|
View
|
| C21orf114 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| C3orf14 |
- |
|
|
-
|
View
|
| PSTPIP2 |
- |
|
|
Binds to F-actin. May be involved in regulation of the actin cytoskeleton (By similarity).
|
View
|
| C1orf37 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| PPP1R15A |
- |
|
|
This gene is a member of a group of genes whose transcript levels are increased following stressful growth arrest conditions …
|
View
|
| SH3BP4 |
- |
|
|
-
|
View
|
| LCE2B |
- |
|
|
This gene is one of the at least 20 genes expressed during epidermal differentiation and located on chromosomal band 1q21. …
|
View
|
| - |
- |
|
|
-
|
View
|
| SLC22A13 |
- |
|
|
This gene encodes a member of the organic-cation transporter family. It is located in a gene cluster with another member …
|
View
|
| ATP5G1 |
- |
|
|
This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of …
|
View
|
| TXNDC3 |
- |
|
|
TXNDC3 encodes a group II thioredoxin protein, composed of a thioredoxin domain and 3 NDP kinase domains, with testis-specific expression.[supplied …
|
View
|
| PCDH10 |
- |
|
|
This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The mRNA encodes a cadherin-related neuronal …
|
View
|
| DRD2 |
- |
|
|
This gene encodes the D2 subtype of the dopamine receptor. This G-protein coupled receptor inhibits adenylyl cyclase activity. A missense …
|
View
|
| SPFH1 |
- |
|
|
-
|
View
|
| ELOVL6 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| VKORC1 |
- |
|
|
Vitamin K is essential for blood clotting but must be enzymatically activated. This enzymatically activated form of vitamin K is …
|
View
|
| SULT1A2 |
- |
|
|
Sulfotransferase enzymes catalyze the sulfate conjugation of many hormones, neurotransmitters, drugs, and xenobiotic compounds. These cytosolic enzymes are different in …
|
View
|
| KLK9 |
- |
|
|
-
|
View
|
| KLHL15 |
- |
|
|
-
|
View
|
| EEF2 |
- |
|
|
This gene encodes a member of the GTP-binding translation elongation factor family. This protein is an essential factor for protein …
|
View
|
| ZNF432 |
- |
|
|
-
|
View
|
| SCGB3A1 |
- |
|
|
Potential growth inhibitory cytokine.
|
View
|
| PRB4 |
- |
|
|
The protein encoded by this gene is a proline-rich salivary protein. This gene and five other genes that also encode …
|
View
|
| ODZ3 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| SDFR1 |
- |
|
|
Stromal cell derived receptor 1 is a type I transmembrane protein belonging to the Ig superfamily. The protein is believed …
|
View
|
| ZCSL2 |
- |
|
|
Down-regulation increases extracellular release of proteoglycans, indicating a possible role in the secretion process. Stimulates binding of GNEFR to SEC5.
|
View
|
| CHPT1 |
- |
|
|
-
|
View
|
| C9orf100 |
- |
|
|
-
|
View
|
| NR2C2 |
- |
|
|
Members of the nuclear hormone receptor family, such as NR2C2, act as ligand-activated transcription factors. The proteins have an N-terminal …
|
View
|
| UBE2D3 |
- |
|
|
The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination …
|
View
|
| CD99 |
- |
|
|
Involved in T-cell adhesion processes. It is involved in spontaneous rosette formation with erythrocytes.
|
View
|
| SDPR |
- |
|
|
This gene encodes a calcium-independent phospholipid-binding protein whose expression increases in serum-starved cells. This protein has also been shown to …
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| USP50 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| HNRPH1 |
- |
|
|
This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and …
|
View
|
| KIAA1822 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| ELL |
- |
|
|
Elongation factor that can increase the catalytic rate of RNA polymerase II transcription by suppressing transient pausing by the polymerase …
|
View
|
| NXF3 |
- |
|
|
This gene is one member of a family of nuclear RNA export factor genes. Common domain features of this family …
|
View
|
| SMN2 |
- |
|
|
This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four …
|
View
|
| NCALD |
- |
|
|
NCALD is a member of the EF-hand calcium-binding protein superfamily.[supplied by OMIM]
|
View
|
| CHEK2 |
- |
|
|
In response to DNA damage and replication blocks, cell cycle progression is halted through the control of critical cell cycle …
|
View
|
| OXTR |
- |
|
|
The protein encoded by this gene belongs to the G-protein coupled receptor family and acts as a receptor for oxytocin. …
|
View
|
| - |
- |
|
|
-
|
View
|
| MRPL13 |
- |
|
|
Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) …
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| HSPA1L |
- |
|
|
This gene encodes a 70kDa heat shock protein. In conjunction with other heat shock proteins, this protein stabilizes existing proteins …
|
View
|
| DDX4 |
- |
|
|
DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number …
|
View
|
| DST |
- |
|
|
This gene encodes a member of the plakin protein family of adhesion junction plaque proteins. Multiple alternatively spliced transcript variants …
|
View
|
| - |
- |
|
|
-
|
View
|
| RAB35 |
- |
|
|
Possesses GTPase activity.
|
View
|
| RASSF5 |
- |
|
|
The RAS oncogene (MIM 190020) is mutated in nearly one-third of all human cancers. Members of the RAS superfamily are …
|
View
|
| LRRC43 |
- |
|
|
-
|
View
|
| COL2A1 |
- |
|
|
This gene encodes the alpha-1 chain of type II collagen, a fibrillar collagen found in cartilage and the vitreous humor …
|
View
|
| C9orf81 |
- |
|
|
-
|
View
|
| AOAH |
- |
|
|
Acyloxyacyl hydrolase (AOAH) is a 2-subunit lipase which selectively hydrolyzes the secondary (acyloxyacyl-linked) fatty acyl chains from the lipid A …
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| MMP13 |
- |
|
|
Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such …
|
View
|
| LAMP3 |
- |
|
|
-
|
View
|
| TAGLN |
- |
|
|
The protein encoded by this gene is a transformation and shape-change sensitive actin cross-linking/gelling protein found in fibroblasts and smooth …
|
View
|
| - |
- |
|
|
-
|
View
|
| TFPI2 |
- |
|
|
Seems to inhibit trypsin, factor VIIa/tissue factor, weakly factor Xa. Has no effect on thrombin.
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| ASCC3L1 |
- |
|
|
Putative RNA helicase involved in the second step of RNA splicing. May promote one or more conformational changes in the …
|
View
|
| - |
- |
|
|
-
|
View
|
| DCI |
- |
|
|
This gene encodes a member of the hydratase/isomerase superfamily. The protein encoded is a key mitochondrial enzyme involved in beta-oxidation …
|
View
|
| HTR1D |
- |
|
|
This is one of the several different receptors for 5- hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, …
|
View
|
| MORC |
- |
|
|
This protein is the human homolog of mouse morc and like the mouse protein it is testis-specific. Mouse studies support …
|
View
|
| RPL32 |
- |
|
|
Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these …
|
View
|
| PRKD2 |
- |
|
|
The protein encoded by this gene belongs to the protein kinase D (PKD) family of serine/threonine protein kinases. This kinase …
|
View
|
| NDUFS5 |
- |
|
|
Transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be …
|
View
|
| - |
- |
|
|
-
|
View
|
| OBFC1 |
- |
|
|
May bind nucleic acids or oligosaccharides. -------------------------------------------------------------------------- This Swiss-Prot entry is copyright. It is produced through a collaboration between the …
|
View
|
| ZNF547 |
- |
|
|
Binds to MBP1, prevents MBP1-mediated transcriptional repression and antagonizes MBP1-mediated cell death. May play a role in vesicular transport from …
|
View
|
| KRTAP3-2 |
- |
|
|
This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate …
|
View
|
| RORB |
- |
|
|
The protein encoded by this gene is a member of the NR1 subfamily of nuclear hormone receptors. It is a …
|
View
|
| - |
- |
|
|
-
|
View
|
| ZNF76 |
- |
|
|
May be involved in transcriptional regulation.
|
View
|
| RP1L1 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| ABCF3 |
- |
|
|
-
|
View
|
| ARL2BP |
- |
|
|
ADP-ribosylation factor (ARF)-like proteins (ARLs) comprise a functionally distinct group of the ARF family of RAS-related GTPases. The protein encoded …
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| SPG7 |
- |
|
|
This gene encodes a nuclear-encoded mitochondrial metalloprotease protein that is a member of the AAA (ATPases associated with a variety …
|
View
|
| - |
- |
|
|
DISCONTINUED: LocusId 84238 was defined by AL512728.1, which contains LINE/L1 repeat sequences and does not appear to represent a protein …
|
View
|
| F10 |
- |
|
|
This gene encodes the vitamin K-dependent coagulation factor X precursor of the blood coagulation cascade. This factor precursor is converted …
|
View
|
| PTPN13 |
- |
|
|
The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to …
|
View
|
| WTAP |
- |
|
|
The Wilms tumor suppressor gene WT1 appears to play a role in both transcriptional and posttranscriptional regulation of certain cellular …
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
The protein encoded by this gene shares similarity with mouse Hs1bp3, an Hcls1/Hs1-interacting protein that may be involved in lymphocyte …
|
View
|
| - |
- |
|
|
-
|
View
|
| HOXA1 |
- |
|
|
In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, …
|
View
|
| SH3BP2 |
- |
|
|
Binds differentially to the SH3 domains of certain proteins of signal transduction pathways. Binds to phosphatidylinositols; linking the hemopoietic tyrosine …
|
View
|
| HOXB5 |
- |
|
|
This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors …
|
View
|
| - |
- |
|
|
-
|
View
|
| SUPT3H |
- |
|
|
Probable transcriptional activator.
|
View
|
| - |
- |
|
|
-
|
View
|
| FARS2 |
- |
|
|
Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. FARS1 encodes a mitochondrially-located phenylalanine-tRNA …
|
View
|
| - |
- |
|
|
-
|
View
|
| GAL3ST1 |
- |
|
|
Sulfonation, an important step in the metabolism of many drugs, xenobiotics, hormones, and neurotransmitters, is catalyzed by sulfotransferases. The product …
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| NCR2 |
- |
|
|
Cytotoxicity activating receptor that may contribute to the increased efficiency of activated natural killer (NK) cells to mediate tumor cell …
|
View
|
| - |
- |
|
|
-
|
View
|
| PTPN11 |
- |
|
|
The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to …
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| SLC27A3 |
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| BRD3 |
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This gene was identified based on its homology to the gene encoding the RING3 protein, a serine/threonine kinase. The gene …
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| FER1L3 |
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Mutations in dysferlin, a protein associated with the plasma membrane, can cause muscle weakness that affects both proximal and distal …
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| POLS |
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The protein encoded by this gene is a DNA polymerase that is likely involved in DNA repair. In addition, the …
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| TSPAN3 |
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The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. …
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| NEU3 |
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This gene product belongs to a family of glycohydrolytic enzymes which remove sialic acid residues from glycoproteins and glycolipids. It …
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| SIAH1 |
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This gene encodes a protein that is a member of the seven in absentia homolog (SIAH) family. The protein is …
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| RNASEH2A |
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Of the multiple RNases H in mammals, RNase HI is the major enzyme and shows increased activity during DNA replication. …
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