Human genes

Glucokinase () is an enzyme that facilitates phosphorylation of glucose to glucose-6-phosphate. Glucokinase is expressed in cells of the liver and pancreas of humans and most other vertebrates. In each of these organs it plays an important role in the regulation of carbohydrate metabolism by acting as a glucose sensor, triggering shifts in metabolism or cell function in response to rising or falling levels of glucose, such as occur after a meal or when fasting. Mutations of the gene for this enzyme can cause unusual forms of diabetes or hypoglycemia.

P-glycoprotein 1 (permeability glycoprotein, abbreviated as P-gp or Pgp) also known as multidrug resistance protein 1 (MDR1) or ATP-binding cassette sub-family B member 1 (ABCB1) or cluster of differentiation 243 (CD243) is an important protein of the cell membrane that pumps many foreign substances out of cells. More formally, it is an ATP-dependent efflux pump with broad substrate specificity. It exists in animals, fungi, and bacteria, and it likely evolved as a defense mechanism against harmful substances.

enzyme that converts hypoxanthine to inosine monophosphate

protein-coding gene in the species Homo sapiens

pseudogene in the species Homo sapiens

thumb|right|alt=Glucose transporter 2 (GLUT2) also known as solute carrier family 2, member 2 (SLC2A2) is a transmembrane carrier protein that enables protein facilitated glucose movement across cell membranes|Glut2basal.png Glucose transporter 2 (GLUT2) also known as solute carrier family 2 (facilitated glucose transporter), member 2 (SLC2A2) is a transmembrane carrier protein that enables protein facilitated glucose movement across cell membranes. It is the principal transporter for transfer of glucose between liver and blood Unlike GLUT4, it does not rely on insulin for facilitated diffusio

class of enzymes

class of enzymes

mammalian protein found in Homo sapiens

mammalian protein found in Homo sapiens

Glucose transporter 3 (or GLUT3), also known as solute carrier family 2, facilitated glucose transporter member 3 (SLC2A3) is a protein that in humans is encoded by the SLC2A3 gene. GLUT3 facilitates the transport of glucose across the plasma membranes of mammalian cells. GLUT3 is most known for its specific expression in neurons and has originally been designated as the neuronal GLUT. GLUT3 has been studied in other cell types with specific glucose requirements, including sperm, preimplantation embryos, circulating white blood cells and carcinoma cell lines.

class of enzymes

Chemokine (C-C motif) ligands 4 (also CCL4), previously known as macrophage inflammatory protein (MIP-1β), is a protein which in humans is encoded by the CCL4 gene. CCL4 belongs to a cluster of genes located on 17q11-q21 of the chromosomal region. Identification and localization of the gene on the chromosome 17 was in 1990 although the discovery of MIP-1 was initiated in 1988 with the purification of a protein doublet corresponding to inflammatory activity from supernatant of endotoxin-stimulated murine macrophages. At that time, it was also named as "macrophage inflammatory protein-1" (MIP-1)

protein-coding gene in the species Homo sapiens

The ErbB family of proteins contains four receptor tyrosine kinases, structurally related to the epidermal growth factor receptor (EGFR), its first discovered member. In humans, the family includes Her1 (EGFR, ErbB1), Her2 (ErbB2), Her3 (ErbB3), and Her4 (ErbB4). The gene symbol, ErbB, is derived from the name of a viral oncogene to which these receptors are homologous: erythroblastic leukemia viral oncogene. Insufficient ErbB signaling in humans is associated with the development of neurodegenerative diseases, such as multiple sclerosis and Alzheimer's disease, while excessive ErbB signaling

protein-coding gene in the species Homo sapiens

protein-coding gene in the species Homo sapiens

6-phosphofructokinase, muscle type is an enzyme that in humans is encoded by the PFKM gene on chromosome 12. Three phosphofructokinase isozymes exist in humans: muscle, liver and platelet. These isozymes function as subunits of the mammalian tetramer phosphofructokinase, which catalyzes the phosphorylation of fructose-6-phosphate to fructose-1,6-bisphosphate. Tetramer composition varies depending on tissue type. This gene encodes the muscle-type isozyme. Mutations in this gene have been associated with glycogen storage disease type VII, also known as Tarui disease. Alternatively spliced trans

protein-coding gene in the species Homo sapiens

protein-coding gene in the species Homo sapiens

SAP domain-containing ribonucleoprotein is a protein that in humans is encoded by the SARNP gene.

Beta-1-syntrophin is a protein that in humans is encoded by the SNTB1 gene.

protein-coding gene in the species Homo sapiens

gene of the species Homo sapiens

X-linked inhibitor of apoptosis protein (XIAP), also known as inhibitor of apoptosis protein 3 (IAP3) and baculoviral IAP repeat-containing protein 4 (BIRC4), is a protein that stops apoptotic cell death. In humans, this protein (XIAP) is produced by a gene named XIAP gene located on the X chromosome.

class of enzymes

protein-coding gene in the species Homo sapiens

Equatorin, sperm acrosome associated is a protein that in humans is encoded by the EQTN gene.

Dual specificity protein phosphatase 10 is an enzyme that in humans is encoded by the DUSP10 gene.

family of protein complexes

Cdc25 is a dual-specificity phosphatase first isolated from the yeast Schizosaccharomyces pombe as a cell cycle defective mutant. As with other cell cycle proteins or genes such as Cdc2 and Cdc4, the "cdc" in its name refers to "cell division cycle". Dual-specificity phosphatases are considered a sub-class of protein tyrosine phosphatases. By removing inhibitory phosphate residues from target cyclin-dependent kinases (Cdks), Cdc25 proteins control entry into and progression through various phases of the cell cycle, including mitosis and S ("Synthesis") phase.

DNA repair protein complementing XP-A cells (or XPA) is a protein that in humans is encoded by the XPA gene. ==Function==

Iduronate 2-sulfatase (EC 3.1.6.13; systematic name L-iduronate-2-sulfate 2-sulfohydrolase) is a sulfatase enzyme associated with Hunter syndrome. It catalyses hydrolysis of the 2-sulfate groups of the L-iduronate 2-sulfate units of dermatan sulfate, heparan sulfate and heparin.

APOBEC3G (apolipoprotein B mRNA editing enzyme, catalytic subunit 3G) is a human enzyme encoded by the APOBEC3G gene that belongs to the APOBEC superfamily of proteins. This family of proteins has been suggested to play an important role in innate anti-viral immunity. APOBEC3G belongs to the family of cytidine deaminases that catalyze the deamination of cytidine to uridine in the single stranded DNA substrate. The C-terminal domain of A3G renders catalytic activity, several NMR and crystal structures explain the substrate specificity and catalytic activity.

Adipocyte plasma membrane-associated protein is a protein that in humans is encoded by the APMAP gene.

Tubulin-specific chaperone E is a protein that in humans is encoded by the TBCE gene.

Biotinidase (, amidohydrolase biotinidase, BTD), also known as biotinase, is an enzyme that in humans is encoded by the BTD gene.

snRNA-activating protein complex subunit 2 is a protein that in humans is encoded by the SNAPC2 gene.

Lck-interacting transmembrane adapter 1 is a protein that in humans is encoded by the LIME1 gene.

Glycophorin-E is a protein that in humans is encoded by the GYPE gene.

NEDD9-interacting protein with calponin homology and LIM domains is a protein that in humans is encoded by the MICAL1 gene.

Transcriptional adapter 3-like is a protein that in humans is encoded by the TADA3 gene. Cytogenetic location: 3p25.3

Insulin-like growth factor-binding protein 6 (IGFBP-6) is a protein that in humans is encoded by the IGFBP6 gene.

U2 small nuclear ribonucleoprotein A' is a protein that in humans is encoded by the SNRPA1 gene.

In cell biology, CTDNEP1 (CTD nuclear envelope phosphatase 1) is a protein coding gene involved in neural development. It is a member of DXDX(T/V) phosphatase family and is a potential regulator of neural tube development in Xenopus. The gene promotes neural development by inhibiting bone morphogenetic proteins (BMPs). The encoded protein is relatively small and only contains 244 amino acids.

RING finger and CHY zinc finger domain-containing protein 1 is a protein that in humans is encoded by the RCHY1 gene.

Glutamate receptor-interacting protein 2 is a protein that in humans is encoded by the GRIP2 gene.

Ceroid-lipofuscinosis neuronal protein 6 is a protein that in humans is encoded by the CLN6 gene.

Gasdermin C is a protein that in humans is encoded by the GSDMC gene.

Ras-related GTP-binding protein B is a protein that in humans is encoded by the RRAGB gene.

Opalin is a protein that is encoded in humans by the OPALIN gene.

Cilia- and flagella-associated protein 298 is a protein encoded by CFAP298 gene. It is of interest in part for its association with various diseases. It has been found in high levels in the bone marrow of patients with a negative prognosis of acute myeloid leukemia and an abnormal karyotype. Male Alzheimer's patients have shown a decrease in expression of CFAP298 in their blood cells. The CFAP298 gene lies within the critical region of Down syndrome. There are no clear paralogs in humans, but the gene has homologues widely conserved among animals, fungi, and algae. thumb|A phylogenetic tree sh

Interferon-induced protein with tetratricopeptide repeats 1 is a protein that in humans is encoded by the IFIT1 gene.

protein-coding gene in the species Homo sapiens

S100 calcium-binding protein A2 (S100A2) is a protein that in humans is encoded by the S100A2 gene and it is located on chromosome 1q21 with other S100 proteins.

Thioredoxin, mitochondrial also known as thioredoxin-2 is a protein that in humans is encoded by the TXN2 gene on chromosome 22. This nuclear gene encodes a mitochondrial member of the thioredoxin family, a group of small multifunctional redox-active proteins. The encoded protein may play important roles in the regulation of the mitochondrial membrane potential and in protection against oxidant-induced apoptosis.

U6 snRNA-associated Sm-like protein LSm1 is a protein that in humans is encoded by the LSM1 gene.

Pituitary homeobox 3 is a protein that in humans is encoded by the PITX3 gene.

Stromelysin-3 (SL-3) also known as matrix metalloproteinase-11 (MMP-11) is an enzyme that in humans is encoded by the MMP11 gene.

Protocadherin alpha-5 is a protein that in humans is encoded by the PCDHA5 gene.