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
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesCA8, CA-VIII, CALS, CAMRQ3, CARP, CA-RP, carbonic anhydrase 8
External IDsOMIM: 114815; MGI: 88253; HomoloGene: 20861; GeneCards: CA8; OMA:CA8 - orthologs
Orthologs
SpeciesHumanMouse
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 MbChr 4: 8.14 – 8.24 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Carbonic anhydrase-related protein is a protein that in humans is encoded by the CA8 gene.[5][6] The CA8 protein lacks the catalytic activity of other carbonic anhydrase enzymes.[7] 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.[7][8]

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.[6]

Interactions

CA8 has been shown to interact with ITPR1.[9]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000178538 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000041261 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Nishikata M, Nishimori I, Taniuchi K, Takeuchi T, Minakuchi T, Kohsaki T, Adachi Y, Ohtsuki Y, Onishi S (Feb 2007). "Carbonic anhydrase-related protein VIII promotes colon cancer cell growth". Mol Carcinog. 46 (3): 208–14. doi:10.1002/mc.20264. PMID 17219437. S2CID 43887918.
  6. ^ a b "Entrez Gene: CA8 carbonic anhydrase VIII".
  7. ^ a b UniProt accession number: P35219; Retrieved 27 December 2019
  8. ^ Online Mendelian Inheritance in Man (OMIM): CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 3; CAMRQ3 - 613227; Retrieved 27 December 2019
  9. ^ Hirota J, Ando H, Hamada K, Mikoshiba K (Jun 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.

Further reading

  • 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


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