Chromosome 9 consists of about 145 million bases and 4% of the human genome and encodes nearly 900 genes. Considered to play a role in gender determination, deletion of the distal portion of 9p can lead to development of male to female sex reversal, the phenotype of a female with a male X,Y genotype. Hereditary hemorrhagic telangiectasia, which is characterized by harmful vascular defects, is associated with the chromosome 9 gene encoding endoglin protein, ENG. Familial dysautonomia is also associated with chromosome 9 though through the gene IKBKAP. Notably, chromosome 9 encompasses the largest interferon family gene cluster. Chromosome 9 is partnered with chromosome 22 in the translocation leading to the aberrant production of BCR-ABL fusion protein often found in leukemias. The FAM120A gene product has been provisionally designated FAM120A pending further characterization.
Function:
May participate in mRNA transport in the cytoplasm (By similarity). Critical component of the oxidative stress-induced survival signaling. Activates src family kinases and acts as a scaffolding protein enabling src family kinases to phosphorylate and activate PI3-kinase. Binds RNA and promotes the secretion of IGF-II. May play a pivotal role in the progression of scirrhous-type gastric cancer by supporting cancer cell survival in environments with various oxidative stresses.
Subcellular Location:
Cytoplasm. Cell membrane. Translocates to plasma membrane upon ultraviolet exposure.
Tissue Specificity:
Ubiquitously expressed. Highly expressed in scirrhous-type gastric cancer tissues compared with normal gastric mucosa (at protein level).
Post-translational modifications:
Arg-982 is dimethylated, probably to asymmetric dimethylarginine.
Phosphorylated on tyrosine by src family kinases upon ultraviolet exposure.
Similarity:
Belongs to the constitutive coactivator of PPAR-gamma family.
SWISS:
Q9NZB2
Gene ID:
23196
Database links:
Entrez Gene: 23196 Human
Entrez Gene: 100398882 Marmoset (common)
Entrez Gene: 218236 Mouse
Entrez Gene: 291019 Rat
GenBank: NP_055427.2 Human
Omim: 612265 Human
SwissProt: Q9NZB2 Human
SwissProt: Q6A0A9 Mouse
Unigene: 314403 Human
Unigene: 707324 Human
Unigene: 426571 Mouse
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