CA8

"CA 8" redirects here. For the U.S. federal circuit court of appeals, see United States Court of Appeals for the Eighth Circuit. For the highways, see California State Route 8 (disambiguation). For the congressional district, see California's 8th congressional district.

CA8
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2W2J
Identifiers
Aliases	CA8, CA-VIII, CALS, CAMRQ3, CARP, CA-RP, carbonic anhydrase 8
External IDs	OMIM: 114815; MGI: 88253; HomoloGene: 20861; GeneCards: CA8; OMA:CA8 - orthologs
Gene location (Human) Chr. Chromosome 8 (human) Band 8q12.1 Start 60,185,412 bp End 60,281,400 bp
Gene location (Mouse) Chr. Chromosome 4 (mouse) Band 4 A1|4 3.53 cM Start 8,143,362 bp End 8,239,041 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right hemisphere of cerebellum gonad testicle cerebellar vermis right testis left testis anterior pituitary caudate nucleus islet of Langerhans Amygdala Top expressed in lobe of cerebellum cerebellar vermis crypt of lieberkuhn of small intestine Paneth cell migratory enteric neural crest cell right lung left lung lobe right lung lobe deep cerebellar nuclei epithelium of lens More reference expression data BioGPS More reference expression data
Gene ontology Molecular function carbonate dehydratase activity zinc ion binding protein binding metal ion binding carbonic anhydrase Cellular component cytoplasm Biological process phosphatidylinositol-mediated signaling Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 767 12319 Ensembl ENSG00000178538 ENSMUSG00000041261 UniProt P35219 P28651 RefSeq (mRNA) NM_004056 NM_001321837 NM_001321838 NM_001321839 NM_007592 RefSeq (protein) NP_001308766 NP_001308767 NP_001308768 NP_004047 NP_031618 Location (UCSC) Chr 8: 60.19 – 60.28 Mb Chr 4: 8.14 – 8.24 Mb PubMed search
Wikidata
View/Edit Human View/Edit Mouse

Carbonic anhydrase-related protein is a protein that in humans is encoded by the CA8 gene. The CA8 protein lacks the catalytic activity of other carbonic anhydrase enzymes. 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.

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.

Interactions

CA8 has been shown to interact with ITPR1.

Further reading

• Bergenhem NC, Sait SS, Eddy RL, Shows TB, Tashian RE (1995). "Assignment of the gene for human carbonic anhydrase VIII(CA8) to chromosome 8q11→q12". Cytogenet. Cell Genet. 71 (3): 299–300. doi:10.1159/000134131. PMID 7587398.
• Kelly C, Nógrádi A, Walker R, Caddy K, Peters J, Carter N (1995). "Lurching, reeling, waddling and staggering in mice--is carbonic anhydrase (CA) VIII a candidate gene?". Biochem. Soc. Trans. 22 (3): 359S. doi:10.1042/bst022359s. PMID 7821612.
• Skaggs LA, Bergenhem NC, Venta PJ, Tashian RE (1993). "The deduced amino acid sequence of human carbonic anhydrase-related protein (CARP) is 98% identical to the mouse homologue" (PDF). Gene. 126 (2): 291–2. doi:10.1016/0378-1119(93)90385-G. hdl:2027.42/30832. PMID 8482548.
• Sjöblom B, Elleby B, Wallgren K, Jonsson BH, Lindskog S (1997). "Two point mutations convert a catalytically inactive carbonic anhydrase-related protein (CARP) to an active enzyme". FEBS Lett. 398 (2–3): 322–5. doi:10.1016/S0014-5793(96)01263-X. PMID 8977131. S2CID 38015351.
• Taniuchi K, Nishimori I, Takeuchi T, Fujikawa-Adachi K, Ohtsuki Y, Onishi S (2002). "Developmental expression of carbonic anhydrase-related proteins VIII, X, and XI in the human brain". Neuroscience. 112 (1): 93–9. doi:10.1016/S0306-4522(02)00066-0. PMID 12044474. S2CID 31186391.
• Akisawa Y, Nishimori I, Taniuchi K, Okamoto N, Takeuchi T, Sonobe H, Ohtsuki Y, Onishi S (2003). "Expression of carbonic anhydrase-related protein CA-RP VIII in non-small cell lung cancer". Virchows Arch. 442 (1): 66–70. doi:10.1007/s00428-002-0721-y. PMID 12536316. S2CID 34260891.
• Hirota J, Ando H, Hamada K, Mikoshiba K (2003). "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. doi:10.1042/BJ20030110. PMC 1223404. 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