Blog page 101



                                               

FKBP52

The protein encoded by this gene is a member of the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. This encoded protein is a cis-trans prolyl isomerase th ...

                                               

FMNL3

The protein encoded by this gene contains a formin homology 2 domain and has high sequence identity to the mouse Wbp3 protein. Two alternative transcripts encoding different isoforms have been described. The C-terminus has been shown to accelerat ...

                                               

FOXM1

Forkhead box protein M1 is a protein that in humans is encoded by the FOXM1 gene. The protein encoded by this gene is a member of the FOX family of transcription factors. Its potential as a target for future cancer treatments led to it being desi ...

                                               

FRS2

Fibroblast growth factor receptor substrate 2 is a protein that in humans is encoded by the FRS2 gene. FRS2 is 80 membrane-anchored KDA signal transducer adaptor protein STAP that one particular activation of receptor tyrosine kinases Rtks severa ...

                                               

GALNT6

Polypeptide N-acetylgalactosaminyltransferase 6 is an enzyme that in humans is encoded by the GALNT6 gene. This gene encodes a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase GalNAc-T family enzymes. ...

                                               

GIT2

This gene encodes a member of the GIT protein family. GIT proteins interact with G protein-coupled receptor kinases and possess ADP-ribosylation factor ARF GTPase-activating protein GAP activity. This gene undergoes extensive alternative splicing ...

                                               

GLIPR1

This gene encodes a protein with similarity to both the pathogenesis-related protein PR superfamily and the cysteine-rich secretory protein CRISP family.

                                               

GLTP

Glycolipid transfer protein is a protein that in humans is encoded by the GLTP gene. The protein encoded by this gene is similar to bovine and porcine proteins which accelerate transfer of certain glycosphingolipids and glyceroglycolipids between ...

                                               

GLUT3

Glucose transporter 3, also known as solute carrier family 2, facilitated glucose transporter member 3 is a protein that in humans is encoded by the SLC2A3 gene. GLUT3 facilitates the transport of glucose across the plasma membranes of mammalian ...

                                               

Glyceraldehyde 3-phosphate dehydrogenase

Glyceraldehyde 3-phosphate dehydrogenase is an enzyme of ~37kDa that catalyzes the sixth step of glycolysis and thus serves to break down glucose for energy and carbon molecules. In addition to this long established metabolic function, GAPDH has ...

                                               

Glycerol-3-phosphate dehydrogenase 1

This gene encodes a member of the NAD-dependent glycerol-3-phosphate dehydrogenase family. The encoded protein plays a critical role in carbohydrate and lipid metabolism by catalyzing the reversible conversion of dihydroxyacetone phosphate DHAP a ...

                                               

GNB3

Guanine nucleotide-binding protein G/G/G subunit beta-3 is a protein that in humans is encoded by the GNB3 gene. Heterotrimer-guanine-nucleotide-binding proteins g proteins, which integrate signals from receptors and effector proteins, are compos ...

                                               

GOLGA3

Golgin subfamily A member 3 is a protein that in humans is encoded by the GOLGA3 gene. The Golgi apparatus which participates in glycosylation and transport of proteins and lipids in the secretory pathway, consists of a series of stacked cisterna ...

                                               

GOLT1B

Vesicle transport protein GOT1B is a protein that in humans is encoded by the GOLT1B gene. Got1p is a protein that aides in the transport of vesicles through the Golgi apparatus from the cell. Got1p has a calculated mass of 15.4 kDa and consists ...

                                               

GRIN2B

Glutamate receptor subunit epsilon-2, also known as N -methyl D-aspartate receptor subtype 2B, is a protein that in humans is encoded by the GRIN2B gene.

                                               

Guanylate cyclase 2C

Guanylate cyclase 2C, also known as guanylyl cyclase C, intestinal guanylate cyclase, guanylate cyclase-C receptor, or the heat-stable enterotoxin receptor is an enzyme that in humans is encoded by the GUCY2C gene. Guanylyl adenylate cyclase, the ...

                                               

H1FNT

H1 histone family, member N, testis-specific is a member of the histone family of nuclear proteins which are a component of chromatin. In humans, this protein is encoded by the H1FNT gene. In H1FNT protein is required for formation of nuclear of ...

                                               

H2AFJ

Histone H2A.J is a protein that in humans is encoded by the H2AFJ gene. Histones-basic nuclear proteins that are responsible for the structure of the nucleosomes of the chromosomal fiber in eukaryotes. The threads consist of approximately 146 BP ...

                                               

HDAC7

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 th ...

                                               

HEBP1

The full-length protein encoded by this gene is an intracellular tetrapyrrole-binding protein. This protein includes a natural chemoattractant peptide of 21 amino acids at the N-terminus, which is a natural ligand for formyl peptide receptor-like ...

                                               

Histidine ammonia-lyase

Histidine ammonia-lyase is an enzyme that in humans is encoded by the HAL gene. Histidase converts histidine into ammonia and urocanic acid.

                                               

HOTAIR

HOTAIR is a human gene located on chromosome 12. It is the first example of an RNA expressed on one chromosome that has been found to influence transcription on another chromosome.

                                               

HRK (gene)

Activator of apoptosis Hrk regulates apoptosis through interaction with death-repressor proteins Bcl-2 and Bcl-XL. The HRK protein lacks significant homology to other BCL2 family members except for an 8-amino acid region that was similar to the B ...

                                               

HSD17B6

Hydroxysteroid 17-beta dehydrogenase 6 is an enzyme that in humans is encoded by the HSD17B6 gene. The protein encoded by this gene has both oxidoreductase and epimerase activities and is involved in androgen catabolism. The oxidoreductase activi ...

                                               

HSN2

Hereditary sensory neuropathy, type II also known as HSN2 is a protein which in humans in encoded by the HSN2. It is a single-exon ORF, and a nervous system-specific exon of the WNK1 gene. HSN2 is as an alternatively spliced exon of WNK1 and this ...

                                               

HSPB8

Mutations in this gene have been associated with an autosomal dominant rimmed vacuolar myopathy The clinical features of this condition are distal and proximal myopathy. MRI show severe relatively symmetric multifocal fatty degenerative changes w ...

                                               

IFT81

Intraflagellar transport protein 81 homolog is a protein that in humans is encoded by the IFT81 gene. Together with IFT74/72 it forms a core complex to build IFT particles which are required for cilium formation. Additionally, it interacts with b ...

                                               

IKZF4

Zinc finger protein Eos is a protein that in humans is encoded by the IKZF4 gene. Members of Icarus ZNFN1A1, MIM 603023 a family of transcription factors, which includes EOS, are expressed in lymphocytes and involved in the control of lymphoid de ...

                                               

INHBC

Inhibin beta C chain is a protein that in humans is encoded by the INHBC gene. This gene encodes the beta-chain of inhibin, a member of the TGF-beta superfamily. This subunit forms heterodimer with beta-and beta-subunits B. Inhibins and activins, ...

                                               

Integrin alpha 7

Alpha-7 integrin is a protein that in humans is encoded by the ITGA7 gene. Alpha-7 integrin is critical for modulating cell-matrix interactions. Alpha-7 integrin is highly expressed in cardiac muscle, skeletal muscle and smooth muscle cells, and ...

                                               

Integrin beta 7

Integrin beta-7 is an integrin protein that in humans is encoded by the ITGB7 gene. It can pair with ITGA4 to form the heterodimeric integrin receptor α 4 β 7, or with ITGAE to form α E β 7.

                                               

Interleukin 22

IL-22 is an α-helical cytokine. IL-22 binds to a heterodimeric cell surface receptor composed of IL-10R2 and IL-22R1 subunits. IL-22R is expressed on tissue cells, and it is absent on immune cells. Crystallization possible in the presence of N-li ...

                                               

Interleukin 23 subunit alpha

Interleukin-23 subunit alpha is a protein that in humans is encoded by the IL23A gene. IL-23 is produced by dendritic cells and macrophages. Interleukin-23 is a heterodimeric cytokine composed of the Il-12p40 subunit that is shared with IL-12 and ...

                                               

Interleukin 31

Interleukin-31 is a protein that in humans is encoded by the IL31 gene that resides on chromosome 12. IL-31 is an inflammatory cytokine that helps trigger cell-mediated immunity against pathogens. It has also been identified as a major player in ...

                                               

IPO8

The importin-alpha/beta complex and the GTPase Ran mediate nuclear import of proteins with a classical nuclear localization signal. The protein encoded by this gene is a member of a class of approximately 20 potential Ran targets that share a seq ...

                                               

IQSEC3

IQSEC3 is a human gene, known as IQ motif and Sec7 domain 3. It contains an IQ domain, then after SEC7 and PH. It functions as an ARF GEF for the ARF family of GTPase, which is to say that it causes GDP to be released, and GTP binding, thereby ac ...

                                               

IRAK3

Interleukin-1 receptor-associated kinase 3 is an enzyme that in humans is encoded by the IRAK3 gene. Using in vivo liposome-mediated delivery of CRISPR/Cas9 plasmid expressing IRAK3 gRNA, IRAK3 was shown to be responsible for endotoxin-induced ex ...

                                               

ISCU

Iron-sulfur cluster assembly enzyme ISCU, mitochondrial is a protein that in humans is encoded by the ISCU gene. It encodes an iron-sulfur cluster scaffold protein involved in cluster synthesis and maturation. A deficiency of ISCU is associated w ...

                                               

KAT8 regulatory NSL complex subunit 2

KAT8 regulatory NSL complex subunit 2 also known as non-specific lethal 2 homolog is a protein that in humans is encoded by the KANSL2 gene.

                                               

KDM2B

KDM2B is broadly and highly expressed in embryonic tissues especially in the developing central nervous system of vertebrates. Expression of KDM2B is also retained in most organs in adults. The protein is present in the nucleoplasm and is enriche ...

                                               

Keratin 2A

Keratin 2A also known as keratin 2E or keratin 2 is a protein that in humans is encoded by the KRT2A gene. Keratin 2A is a type II cytokeratin. It is mainly in the upper spinous layer of epidermal keratinocytes and mutations in the gene encoding ...

                                               

Keratin 3

Keratin 3 also known as cytokeratin 3 is a protein that in humans is encoded by the KRT3 gene. Keratin 3 is a type II cytokeratin. It is specifically found in the corneal epithelium together with keratin 12. Mutations in the KRT3 encoding this pr ...

                                               

Keratin 4

Keratin, type I cytoskeletal 4 also known as cytokeratin-4 or keratin-4 is a protein that in humans is encoded by the KRT4 gene. Keratin 4 is a type II cytokeratin. It is specifically found in differentiated layers of the epithelium of the mucosa ...

                                               

Keratin 5

Keratin 5, also known as KRT5, K5, or CK5, is a protein that is encoded in humans by the KRT5 gene. It dimerizes with keratin 14 and forms the intermediate filaments that make up the cytoskeleton of basal epithelial cells. This protein is involve ...

                                               

Keratin 6A

Keratin 6A is one of the 27 different type II keratins expressed in humans. Keratin 6A was the first type II keratin sequence determined. Analysis of the sequence of this keratin together with that of the first type I keratin led to the discovery ...

                                               

Keratin 6B

Keratin 6B is a type II cytokeratin, one of a number of isoforms of keratin 6. It is found with keratin 16 and/or keratin 17 in the hair follicles, the filiform papillae of the tongue and the epithelial lining of oral mucosa and esophagus. This k ...

                                               

Keratin 6C

Keratin 6C, is a type II cytokeratin, one of a number of isoforms of keratin 6 encoded by separate genes located within the type II keratin gene cluster on human chromosome 12q. This gene was uncovered recently by the Human Genome Project and its ...

                                               

Keratin 7

Keratin, type II cytoskeletal 7 also known as cytokeratin-7 or keratin-7 or sarcolectin is a protein that in humans is encoded by the KRT7 gene. Keratin 7 is a type II keratin. It is specifically expressed in the simple epithelia lining the cavit ...

                                               

Keratin 8

Keratin, type II cytoskeletal 8 also known as cytokeratin-8 or keratin-8 is a keratin protein that is encoded in humans by the KRT8 gene. It is often paired with keratin 18.

                                               

Keratin 18

Keratin 18 is a type I cytokeratin. It is, together with its filament partner keratin 8, perhaps the most commonly found products of the intermediate filament gene family. They are expressed in single layer epithelial tissues of the body. Mutatio ...

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