Biology:CA8
 Generic protein structure example |
Carbonic anhydrase-related protein is a protein that in humans is encoded by the CA8 gene.[1][2] The CA8 protein lacks the catalytic activity of other carbonic anhydrase enzymes.[3] A rare, autosomal recessive form of cerebellar ataxia known as "cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3" (CAMRQ3) is caused by mutations in the CA8 gene.[3][4]
Function
The protein encoded by this gene was initially named CA-related protein because of sequence similarity to other known carbonic anhydrase genes. However, the gene product lacks carbonic anhydrase activity (i.e., the reversible hydration of carbon dioxide). The gene product continues to carry a carbonic anhydrase designation based on clear sequence identity to other members of the carbonic anhydrase gene family. The absence of CA8 gene transcription in the cerebellum of the lurcher mutant in mice with a neurologic defect suggests an important role for this acatalytic form.[2]
Interactions
CA8 has been shown to interact with ITPR1.[5]
References
- ↑ "Carbonic anhydrase-related protein VIII promotes colon cancer cell growth". Mol Carcinog 46 (3): 208–14. Feb 2007. doi:10.1002/mc.20264. PMID 17219437.
- ↑ 2.0 2.1 "Entrez Gene: CA8 carbonic anhydrase VIII". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=767.
- ↑ 3.0 3.1 UniProt accession number: P35219; Retrieved 27 December 2019
- ↑ Online Mendelian Inheritance in Man (OMIM) CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 3; CAMRQ3 -613227; Retrieved 27 December 2019
- ↑ "Carbonic anhydrase-related protein is a novel binding protein for inositol 1,4,5-trisphosphate receptor type 1". Biochem. J. 372 (Pt 2): 435–41. Jun 2003. doi:10.1042/BJ20030110. PMID 12611586.
Further reading
- "Assignment of the gene for human carbonic anhydrase VIII(CA8) to chromosome 8q11→q12". Cytogenet. Cell Genet. 71 (3): 299–300. 1995. doi:10.1159/000134131. PMID 7587398.
- "Lurching, reeling, waddling and staggering in mice--is carbonic anhydrase (CA) VIII a candidate gene?". Biochem. Soc. Trans. 22 (3): 359S. 1995. doi:10.1042/bst022359s. PMID 7821612.
- "The deduced amino acid sequence of human carbonic anhydrase-related protein (CARP) is 98% identical to the mouse homologue". Gene 126 (2): 291–2. 1993. doi:10.1016/0378-1119(93)90385-G. PMID 8482548. https://deepblue.lib.umich.edu/bitstream/2027.42/30832/1/0000494.pdf.
- "Two point mutations convert a catalytically inactive carbonic anhydrase-related protein (CARP) to an active enzyme". FEBS Lett. 398 (2–3): 322–5. 1997. doi:10.1016/S0014-5793(96)01263-X. PMID 8977131.
- "Developmental expression of carbonic anhydrase-related proteins VIII, X, and XI in the human brain". Neuroscience 112 (1): 93–9. 2002. doi:10.1016/S0306-4522(02)00066-0. PMID 12044474.
- "Expression of carbonic anhydrase-related protein CA-RP VIII in non-small cell lung cancer". Virchows Arch. 442 (1): 66–70. 2003. doi:10.1007/s00428-002-0721-y. PMID 12536316.
- "Carbonic anhydrase-related protein is a novel binding protein for inositol 1,4,5-trisphosphate receptor type 1". Biochem. J. 372 (Pt 2): 435–41. 2003. doi:10.1042/BJ20030110. PMID 12611586.
External links
- Human CA8 genome location and CA8 gene details page in the UCSC Genome Browser.
- PDBe-KB provides an overview of all the structure information available in the PDB for Human Carbonic anhydrase-related protein
 |  |
