HIGD1A
Description
The HIGD1A (HIG1 hypoxia inducible domain family member 1A) is a protein-coding gene located on chromosome 3.
HIG1 domain family member 1A (HIGD1A), also known as hypoglycemia/hypoxia inducible mitochondrial protein1-a (HIMP1-a) and hypoxia induced gene 1 (HIG1), is a protein that in humans is encoded by the HIGD1A gene on chromosome 3. This protein promotes mitochondrial homeostasis and survival of cells under stress and is involved in inflammatory and hypoxia-related diseases, including atherosclerosis, ischemic heart disease, and Alzheimer's disease, as well as cancer.
The protein encoded by this gene is 10.4 kDa mitochondrial inner membrane protein with two transmembrane domains at the N- and C-terminals. These two domains are arranged such that the N- and C-terminals face outward into the intermembrane space while the rest of the protein loops inside the matrix. Though the N-terminal domain is not necessary to direct the localization of HIGD1A, it is required for the survival of the protein. The gene HIGD1A is an isoform of HIMP1-b via alternative splicing.
HIGD1A primarily functions in mitochondrial homeostasis and, thus, cell survival when under conditions of stress, such as hypoxia and glucose deprivation. For instance, HIGD1A promotes survival of pancreatic α and β cells under stress. HIGD1A has also been found in other parts of the brain, heart, liver, and kidney, where it enhances the survival of these organs. In macrophages, HIGD1A prevents apoptosis by inhibiting cytochrome C release and caspase activity.
HIGD1A is also known as HIG1, RCF1a.
