Category
page 4Genes on human chromosome 1
Fc fragment of IgG receptor IIa
Low affinity immunoglobulin gamma Fc region receptor II-a is a protein that in humans is encoded by the FCGR2A gene.
IPO9
Importin-9 is a protein that in humans is encoded by the IPO9 gene.
ATP binding cassette subfamily A member 4
ATP-binding cassette, sub-family A (ABC1), member 4, also known as ABCA4 or ABCR, is a protein which in humans is encoded by the ABCA4 gene.
INTS3
Integrator complex subunit 3 is a protein that in humans is encoded by the INTS3 gene.
farnesyl diphosphate synthase
Dimethylallyltranstransferase (DMATT), also known as farnesylpyrophosphate synthase (FPPS) or as farnesyldiphosphate synthase (FDPS), is an enzyme that in humans is encoded by the FDPS gene and catalyzes the transformation of dimethylallylpyrophosphate (DMAPP) and isopentenyl pyrophosphate (IPP) into farnesylpyrophosphate (FPP).
NPHS2 stomatin family member, podocin
thumb | right | alt=Gene expression pattern of the NPHS2 gene. | Gene expression pattern of the NPHS2 gene.
Podocin is a protein component of the filtration slits of podocytes. Glomerular capillary endothelial cells, the glomerular basement membrane and the filtration slits function as the filtration barrier of the kidney glomerulus.
Mutations in the podocin gene NPHS2 can cause nephrotic syndrome, such as focal segmental glomerulosclerosis (FSGS) or minimal change disease (MCD). Symptoms may develop in the first few months of life (congenital nephrotic syndrome) or later in childhood.
NR0B2
protein-coding gene in the species Homo sapiens
CENPF
Centromere protein F is a protein that in humans is encoded by the CENPF gene. It is involved in chromosome segregation during cell division. It also has a role in the orientation of microtubules to form cellular cilia.
ZNF687
Zinc finger protein 687 is a zinc finger protein that, in humans, is encoded by the ZNF687 gene.
FAM20B
Protein FAM20B is a protein that in humans is encoded by the FAM20B gene.
ANKRD13C
Ankyrin repeat domain-containing protein 13C is a protein that in humans is encoded by the ANKRD13C gene.
PRPF3
U4/U6 small nuclear ribonucleoprotein Prp3 is a protein that in humans is encoded by the PRPF3 gene.
WNT3A
Protein Wnt-3a is a protein that in humans is encoded by the WNT3A gene.
TRAPPC3
Trafficking protein particle complex subunit 3 is a protein that in humans is encoded by the TRAPPC3 gene.
tumor necrosis factor ligand superfamily member 4
protein family
ATP1A2
Sodium/potassium-transporting ATPase subunit alpha-2 is a protein which in humans is encoded by the ATP1A2 gene.
ATF3
Cyclic AMP-dependent transcription factor ATF-3 is a protein that, in humans, is encoded by the ATF3 gene.
OPRD1
protein-coding gene in the species Homo sapiens
Taste 1 receptor member 3
Taste receptor type 1 member 3 is a protein that in humans is encoded by the TAS1R3 gene. The TAS1R3 gene encodes the human homolog of mouse Sac taste receptor, a major determinant of differences between sweet-sensitive and -insensitive mouse strains in their responsiveness to sucrose, saccharin, and other sweeteners.
CEP350
Centrosome-associated protein 350 is a protein that in humans is encoded by the CEP350 gene.
ACBD3
Golgi resident protein GCP60 is a protein that in humans is encoded by the ACBD3 gene.
YY1AP1
YY1-associated protein 1 is a protein that in humans is encoded by the YY1AP1 gene.
GADD45A
Growth arrest and DNA-damage-inducible protein GADD45 alpha is a protein that in humans is encoded by the GADD45A gene.
CASZ1
Putative survival-related protein is a protein that in humans is encoded by the CASZ1 gene.
SLAMF7
SLAM family member 7 is a protein that in humans is encoded by the SLAMF7 gene.
GNL2
Nucleolar GTP-binding protein 2 is a protein that in humans is encoded by the GNL2 gene.
calsequestrin
Calsequestrin is a calcium-binding protein that acts as a calcium buffer within the sarcoplasmic reticulum. The protein helps hold calcium in the cisterna of the sarcoplasmic reticulum after a muscle contraction, even though the concentration of calcium in the sarcoplasmic reticulum is much higher than in the cytosol. It also helps the sarcoplasmic reticulum store an extraordinarily high amount of calcium ions. Each molecule of calsequestrin can bind 18 to 50 Ca2+ ions. Sequence analysis has suggested that calcium is not bound in distinct pockets via EF-hand motifs, but rather via presentation
MPL
protein-coding gene in the species Homo sapiens
CHD5
Chromodomain-helicase-DNA-binding protein 5 is an enzyme that in humans is encoded by the CHD5 gene. It is a part of the CHD subfamily of ATP-dependent chromatin remodeling complexes.
Taste 1 receptor member 2
T1R2 - Taste receptor type 1 member 2 is a protein that in humans is encoded by the TAS1R2 gene.
EXTL2
Exostosin-like 2 is a protein that in humans is encoded by the EXTL2 gene. EXTL2 Glycosyltransferase is required for the biosynthesis of heparan-sulfate and responsible for the alternating addition of beta-1-4-linked glucuronic acid (GlcA) and alpha-1-4-linked N-acetylglucosamine (GlcNAc) units to nascent heparan sulfate chains. (https://www.phosphosite.org/overviewExecuteAction?id=5020882)
DDX59
Probable ATP-dependent RNA helicase DDX59 is an enzyme that in humans is encoded by the DDX59 gene.
MFN2
Mitofusin-2 is a protein that in humans is encoded by the MFN2 gene. Mitofusins are GTPases embedded in the outer membrane of the mitochondria. In mammals MFN1 and MFN2 are essential for mitochondrial fusion. In addition to the mitofusins, OPA1 regulates inner mitochondrial membrane fusion, and DRP1 is responsible for mitochondrial fission.
NES
protein-coding gene in the species Homo sapiens
TNFRSF25
protein-coding gene in the species Homo sapiens
MTARC2
MOSC domain-containing protein 2, mitochondrial is a protein that in humans is encoded by the MOSC2 gene.
INTS7
Integrator complex subunit 7 is a protein that in humans is encoded by the INTS7 gene.
PINK1
PTEN-induced kinase 1 (PINK1) is a mitochondrial serine/threonine-protein kinase encoded by the PINK1 gene.
GFI1
Zinc finger protein Gfi-1 is a transcriptional repressor that in humans is encoded by the GFI1 gene. It is important normal hematopoiesis.
GATAD2B
Transcriptional repressor p66-beta is a protein that in humans is encoded by the GATAD2B gene.
LEPR
protein-coding gene in the species Homo sapiens
ELK4
ETS domain-containing protein Elk-4 is a protein that in humans is encoded by the ELK4 gene.
CD247
protein-coding gene in the species Homo sapiens
FBXO2
F-box only protein 2 is a protein that in humans is encoded by the FBXO2 gene.
RBM8A
protein-coding gene in the species Homo sapiens
ISG15
Interferon-stimulated gene 15 (ISG15) is a 17 kDa secreted protein that in humans is encoded by the ISG15 gene. ISG15 is induced by type I interferon (IFN) and serves many functions, acting both as an extracellular cytokine and an intracellular protein modifier. The precise functions are diverse and vary among species but include potentiation of Interferon gamma (IFN-II) production in lymphocytes, ubiquitin-like conjugation to newly-synthesized proteins and negative regulation of the IFN-I response.
Synaptic vesicle glycoprotein 2A
Synaptic vesicle glycoprotein 2A (SV2A) is a transmembrane protein belonging to a family of keratan sulfate proteoglycans, located on the synaptic vesicles of mammalian neuronal and endocrine cells. It is encoded by the SV2A gene.
AGTRAP
Type-1 angiotensin II receptor-associated protein is a protein that in humans is encoded by the AGTRAP gene.
CLCNKB
Chloride channel Kb, also known as CLCNKB, is a protein which in humans is encoded by the CLCNKB gene.
HSD3B2
HSD3B2 is a human gene that encodes for 3beta-hydroxysteroid dehydrogenase/delta(5)-delta(4)isomerase type II or hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2. It is expressed principally in steroidogenic tissues and is essential for steroid hormone production. A notable exception is the placenta, where HSD3B1 is critical for progesterone production by this tissue.
CLSTN1
Calsyntenin-1 is a protein that in humans is encoded by the CLSTN1 gene.
C1orf21
Uncharacterized protein C1orf21, also known as Proliferation-Inducing Protein 13, is a protein that in humans is encoded by the C1orf21 gene. C1orf21 is an intracellular protein that flows between the nucleus and the cytoplasm in the cell. It has been linked with cell growth and reproduction and there has been strong links with various types of cancers. There are no paralogs for this gene, however, many conserved orthologs have been found in all invertebrates. C1orf21 has low to moderate level of expression in most tissues in humans, however, it has the most expression in the skin, lung and pr
ELOA
Elongin A is a protein that in humans is encoded by the ELOA gene.
TEX35
TEX35 is a protein that in humans is encoded by the TEX35 gene.
RGS2
Regulator of G-protein signaling 2 is a protein that in humans is encoded by the RGS2 gene. It is part of a larger family of RGS proteins that control signalling through G-protein coupled receptors (GPCR).
TP73
p73 is a protein related to the p53 tumor protein. Because of its structural resemblance to p53, it has also been considered a tumor suppressor. It is involved in cell cycle regulation, and induction of apoptosis. Like p53, p73 is characterized by the presence of different isoforms of the protein. This is explained by splice variants, and an alternative promoter in the DNA sequence.
Fc fragment of IgG receptor IIIa
Low affinity immunoglobulin gamma Fc region receptor III-A is a protein that in humans is encoded by the FCGR3A gene. It is also known as CD16a as it is part of the cluster of differentiation cell surface molecules.
UTP-glucose-1-phosphate uridylyltransferase
class of enzymes
AHCTF1
Protein ELYS is a protein that in humans is encoded by the AHCTF1 gene.
TNFSF18
Tumor necrosis factor ligand superfamily member 18 is a protein that in humans is encoded by the TNFSF18 gene.