CA8

Protein-coding gene in the species Homo sapiens
CA8
Available structures
PDBOrtholog search: PDBe RCSB
List of PDB id codes

2W2J

Identifiers
AliasesCA8, CA-VIII, CALS, CAMRQ3, CARP, CA-RP, carbonic anhydrase 8
External IDsOMIM: 114815; MGI: 88253; HomoloGene: 20861; GeneCards: CA8; OMA:CA8 - orthologs
Gene location (Human)
Chromosome 8 (human)
Chr.Chromosome 8 (human)[1]
Chromosome 8 (human)
Genomic location for CA8
Genomic location for CA8
Band8q12.1Start60,185,412 bp[1]
End60,281,400 bp[1]
Gene location (Mouse)
Chromosome 4 (mouse)
Chr.Chromosome 4 (mouse)[2]
Chromosome 4 (mouse)
Genomic location for CA8
Genomic location for CA8
Band4 A1|4 3.53 cMStart8,143,362 bp[2]
End8,239,041 bp[2]
RNA expression pattern
Bgee
HumanMouse (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
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

  • 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


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