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EIF1AX

Eukaryotic translation initiation factor 1A, X-chromosomal is a protein that in humans is encoded by the EIF1AX gene. This gene encodes an essential eukaryotic translation initiation factor. The protein is a component of the 43S pre-initiation co ...

                                               

EIF2S3

Eukaryotic translation initiation factor 2 eIF2 functions in the early steps of protein synthesis by forming a ternary complex with GTP and initiator tRNA and binding to a 40S ribosomal subunit. eIF2 is composed of three subunits, alpha α, beta β ...

                                               

ENOX2

ENOX2 is a gene located on the long arm of the X chromosome in humans. The gene encodes the protein Ecto-NOX disulfide-thiol exchanger 2, a member of the NOX family of NADPH oxidases. Ecto-NOX disulfide-thiol exchanger 2 growth-related cell surfa ...

                                               

Ephrin B1

Ephrin-B1 is a protein that in humans is encoded by the EFNB1 gene. It is a member of the ephrin family. The encoded protein is a type I membrane protein and a ligand of Eph-related receptor tyrosine kinases. It may play a role in cell adhesion a ...

                                               

ERCC excision repair 6 like, spindle assembly checkpoint helicase

This gene encodes a member of the SWItch/Sucrose Non-Fermentable SWI/SNF2 family of proteins, and contains a SNF2-like ATPase domain and a PICH family domain. One distinguishing feature of this SWI/SNF protein family member is that during interph ...

                                               

FAAH2

Fatty acid amide hydrolase 2 or FAAH2 is a member of the serine hydrolase family of enzymes. Fatty acid Amide hydrolase 2 can endocannabinoids and defects of this enzyme have been associated with neurological and psychiatric disorders.

                                               

FAM120C

Family with sequence similarity 120C is a protein in humans that is encoded by the FAM120C gene. This gene encodes a potential transmembrane protein and lies in a region where mutations and deletions have been associated with intellectual disabil ...

                                               

FANCB

The Fanconi anemia complementation group FANC currently includes FANCA, FANCB, FANCC, FANCD1 also called BRCA2, FANCD2, FANCE, FANCF, FANCG, and FANCL. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic ...

                                               

FATE1

Fetal and Adult Testis-Expressed 1, encoded by the FATE1 gene in humans, is a protein identified as a cancer-testis antigen in hepatocellular carcinomas and gastric and colon cancers. It is testis-specific in the fetus. In adults, it is expressed ...

                                               

FGF13

Fibroblast growth factor 13 is a protein that in humans is encoded by the FGF13 gene. The protein encoded by this gene is a member of a family of fibroblast growth factor FGF. The FGF family members possess broad mitogenic and survival activities ...

                                               

FGF16

The protein encoded by this gene is a member of the fibroblast growth factor FGF family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic developme ...

                                               

Firre (gene)

Firre is a long non-coding RNA located on chromosome X. It is retained in the nucleus via interaction with the nuclear matrix factor hnRNPU. It mediates trans-chromosomal interactions and anchors the inactive X chromosome to the nucleolus. It pla ...

                                               

FLNA

Actin-binding protein, or filamin, is a 280-kD protein that crosslinks actin filaments into orthogonal networks in cortical cytoplasm and participates in the anchoring of membrane proteins for the actin cytoskeleton. Remodeling of the cytoskeleto ...

                                               

FMR1

FMR1 is a human gene that codes for a protein called fragile X mental retardation protein, or FMRP. This protein, most commonly found in the brain, is essential for normal cognitive development and female reproductive function. Mutations of this ...

                                               

FOXP3

FOXP3, also known as scurfin, is a protein involved in immune system responses. A member of the FOX protein family, FOXP3 appears to function as a master regulator of the regulatory pathway in the development and function of regulatory T cells. R ...

                                               

FTSJ1

Putative ribosomal RNA methyltransferase 1 is an enzyme that in humans is encoded by the FTSJ1 gene. The protein encoded by this gene is a member of the S-adenosylmethionine-binding protein family. It is a nucleolar protein and may be involved in ...

                                               

FUNDC1

Model organisms have been used in the study of FUNDC1 function. A conditional knockout mouse line, called Fundc1 tm1aKOMPWtsi was generated as part of the International Knockout Mouse Consortium program - a high-throughput mutagenesis project to ...

                                               

G protein nucleolar 3 like

The protein encoded by this gene appears to be a nucleolar GTPase that is essential for ribosomal pre-rRNA processing and cell proliferation. Two transcript variants encoding the same protein have been found for this gene.

                                               

GDI1

GDP dissociation inhibitors are proteins that regulate the GDP-GTP exchange reaction of members of the rab family, small GTP-binding proteins of the ras superfamily, that are involved in vesicular trafficking of molecules between cellular organel ...

                                               

GEMIN8

Gemin-8 is part of the SMN complex, which is necessary for spliceosomal snRNP assembly in the cytoplasm and pre-mRNA splicing in the nucleus. Gemin-8 binds to both SMN1 and the GEMIN6 / GEMIN7 heterodimer, mediating their interaction. This protei ...

                                               

GLUD2

Glutamate dehydrogenase 2, mitochondrial, also known as GDH 2, is an enzyme that in humans is encoded by the GLUD2 gene. This dehydrogenase is one of the family of glutamate dehydrogenases that are ubiquitous in life.

                                               

Glycerol kinase

Glycerol kinase, encoded by the gene GK, is a phosphotransferase enzyme involved in triglycerides and glycerophospholipids synthesis. Glycerol kinase catalyzes the transfer of phosphate from ATP to the glycerin to form glycerol-3-phosphate: ATP + ...

                                               

Glypican 4

Glypican-4 is a protein that in humans is encoded by the GPC4 gene. Cell surface proteoglycans heparansulfate consist of a membrane-associated protein core substituted with a variable number heparansulfate the chain. Members of the glypican-relat ...

                                               

GPM6B

Neuronal membrane glycoprotein M6-b is a protein that in humans is encoded by the GPM6B gene. In melanocytic cells GPM6B gene expression may be regulated by MITF.

                                               

Granulocyte-macrophage colony-stimulating factor receptor

The granulocyte-macrophage colony-stimulating factor receptor also known as CD116, is a receptor for granulocyte-macrophage colony-stimulating factor, which stimulates the production of white blood cells. The receptor is normally located on myelo ...

                                               

Grb2 associated binding protein 3

This gene is a member of the GRB2-associated binding protein gene family. These proteins are scaffolding/docking proteins that are involved in several growth factor and cytokine signaling pathways, and they contain a pleckstrin homology domain, a ...

                                               

GRIA3

Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. These receptors are heteromeric protein complexes with multiple subunits, ea ...

                                               

GRIPAP1

GRASP1 is a neuron-specific guanine nucleotide exchange factor for the Ras family of small G proteins RasGEF and is associated with the GRIP/AMPA receptor complex in brain Ye et al., 2000.

                                               

GSPT2

Eukaryotic peptide chain release factor GTP-binding subunit ERF3B is an enzyme that in humans is encoded by the GSPT2 gene. GSPT2 is closely associated with MIM 139259 GSPT1, a GTP-binding protein, which plays an important role in the series G1 - ...

                                               

GUCY2F

The protein encoded by this gene is a guanylyl cyclase found predominantly in photoreceptors in the retina. The encoded protein is thought to be involved in resynthesis of cGMP after light activation of the visual signal transduction cascade, all ...

                                               

H2AFB1

Histone H2A-Bbd type 1 also known as H2A Barr body-deficient is a histone protein variant that in humans is encoded by the H2AFB1 gene.

                                               

H2AFB2

Histone H2A-Bbd type 2/3 also known as H2A Barr body-deficient is a histone protein that in humans is encoded by the H2AFB2 gene.

                                               

H2AFB3

H2A histone family, member B3 is a protein that in humans is encoded by the H2AFB3 gene. Histones-basic nuclear proteins that are responsible for the structure of the nucleosomes of the chromosomal fiber in eukaryotes. The threads consist of appr ...

                                               

H2BFWT

H2B histone family, member W, testis-specific is a protein that in humans is encoded by the H2BFWT gene. Histones-basic nuclear proteins that are responsible for the structure of the nucleosomes of the chromosomal fiber in eukaryotes. Two molecul ...

                                               

HCCS (gene)

The HCCS gene is located on the Xp22 region of chromosome X and encodes a protein that is ~30 kDa in size. The HCCS protein is localized to the inner mitochondrial membrane and is expressed in multiple tissue including prominently in the cardiova ...

                                               

HDAC6

Histones play a critical role in transcriptional regulation, cell cycle progression, and developmental events. Histone acetylation/deacetylation alters chromatin structure and affects transcription. The protein encoded by this gene belongs to cla ...

                                               

HDAC8

Histones play a critical role in transcriptional regulation, cell cycle progression, and developmental events. Histone acetylation / deacetylation alters chromosome structure and affects transcription factor access to DNA. The protein encoded by ...

                                               

HDHD1A

Haloacid dehalogenase-like hydrolase domain-containing protein 1A is an enzyme that in humans is encoded by the HDHD1A gene. It encodes a pseudouridine-5-phosphatase but can also accommodate other phopshorylated metabolites with a lower affinity.

                                               

Heparan sulfate 6-o-sulfotransferase 2

Heparan sulfate proteoglycans are ubiquitous components of the cell surface, extracellular matrix, and basement membranes, and interact with various ligands to influence cell growth, differentiation, adhesion, and migration. This gene encodes a m ...

                                               

Hephaestin

Hephaestin is involved in the metabolism and homeostasis of iron and possibly copper. It is a transmembrane copper-dependent ferroxidase responsible for transporting dietary iron from intestinal enterocytes into the circulatory system. The highes ...

                                               

HNRPH2

Heterogeneous nuclear ribonucleoprotein H2 is a protein that in humans is encoded by the HNRNPH2 gene. This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins hnRNPs. In hnRNPs are RNA binding protein ...

                                               

HSD17B10

17-β-Hydroxysteroid dehydrogenase X also known as 3-hydroxyacyl-CoA dehydrogenase type-2 is a mitochondrial enzyme that in humans is encoded by the HSD17B10 dehydrogenase 10) gene. Several alternatively spliced transcript variants have been ident ...

                                               

HTATSF1

HIV Tat-specific factor 1 is a protein that in humans is encoded by the HTATSF1 gene. While most of the DNA sequences of transcription factors increase the rate of initiation and interact with enhancer or promoter DNA virus-1 human immunodeficien ...

                                               

HUWE1

E3 ubiquitin-protein ligase HUWE1 is an enzyme that in humans is encoded by the HUWE1 gene. It performs the third step of ligation in the binding of ubiquitin to proteins in a process called ubiquitination tags proteins for disposal.

                                               

IDH3G

Isocitrate dehydrogenase subunit gamma, mitochondrial is an enzyme that in humans is encoded by the IDH3G gene. IDHs Isocitrate dehydrogenases catalyze the oxidative decarboxylation of isocitrate to 2-oxoglutarate. These enzymes belong to two dis ...

                                               

IGSF1

Immunoglobulin superfamily, member 1 is a plasma membrane glycoprotein encoded by the IGSF1 gene, which maps to the X chromosome in humans and other mammalian species.

                                               

IL1RAPL1

The protein encoded by this gene is a member of the interleukin-1 receptor family and is similar to the interleukin 1 accessory proteins. It is most closely related to interleukin 1 receptor accessory protein-like 2 IL1RAPL2.

                                               

IL1RAPL2

X-linked interleukin-1 receptor accessory protein-like 2 is a protein that in humans is encoded by the IL1RAPL2 gene. The protein encoded by this gene is a member of the family of Il-1 receptor. This protein is similar to the interleukin 1 access ...

                                               

Interleukin-3 receptor

The interleukin-3 receptor is a molecule found on cells which helps transmit the signal of interleukin-3, a soluble cytokine important in the immune system. The gene encoding the receptor is located in the pseudoautosomal region of the X and Y ch ...

                                               

IRAK1

This gene encodes the interleukin-1 receptor-associated kinase 1, one of two putative serine/threonine kinases that become associated with the interleukin-1 receptor IL1R upon stimulation. This gene is partially responsible for IL1-induced upregu ...