CA8

Last updated
CA8
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases CA8 , CA-VIII, CALS, CAMRQ3, CARP, CA-RP, carbonic anhydrase 8
External IDs OMIM: 114815 MGI: 88253 HomoloGene: 20861 GeneCards: CA8
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 Mb Chr 4: 8.14 – 8.24 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/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]

Contents

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]

Related Research Articles

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<span class="mw-page-title-main">Carbonic anhydrase II</span> Protein-coding gene in the species Homo sapiens

Carbonic anhydrase II, is one of sixteen forms of human α carbonic anhydrases. Carbonic anhydrase catalyzes reversible hydration of carbon dioxide. Defects in this enzyme are associated with osteopetrosis and renal tubular acidosis. Renal carbonic anhydrase allows the reabsorption of bicarbonate ions in the proximal tubule. Loss of carbonic anhydrase activity in bones impairs the ability of osteoclasts to promote bone resorption, leading to osteopetrosis.

<span class="mw-page-title-main">ITPR1</span> Protein-coding gene in the species Homo sapiens

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<span class="mw-page-title-main">Carbonic anhydrase III, muscle specific</span> Protein-coding gene in the species Homo sapiens

Carbonic anhydrase 3 is an enzyme that in humans is encoded by the CA3 gene.

<span class="mw-page-title-main">Carbonic anhydrase 9</span> Protein-coding gene in the species Homo sapiens

Carbonic anhydrase IX is an enzyme that in humans is encoded by the CA9 gene. It is one of the 14 carbonic anhydrase isoforms found in humans and is a transmembrane dimeric metalloenzyme with an extracellular active site that facilitates acid secretion in the gastrointestinal tract. CA IX is overexpressed in many types of cancer including clear cell renal cell carcinoma (RCC) as well as carcinomas of the cervix, breast and lung where it promotes tumor growth by enhancing tumor acidosis.

<span class="mw-page-title-main">ACTL6A</span> Protein-coding gene in the species Homo sapiens

Actin-like protein 6A is a protein that in humans is encoded by the ACTL6A gene.

<span class="mw-page-title-main">CA1 (gene)</span> Protein-coding gene in the species Homo sapiens

Carbonic anhydrase 1 is an enzyme that in humans is encoded by the CA1 gene.

<span class="mw-page-title-main">Carbonic anhydrase 4</span> Protein-coding gene in the species Homo sapiens

Carbonic anhydrase 4 is an enzyme that in humans is encoded by the CA4 gene.

<span class="mw-page-title-main">Carbonic anhydrase 12</span> Protein-coding gene in the species Homo sapiens

Carbonic anhydrase 12 is an enzyme that in humans is encoded by the CA12 gene.

<span class="mw-page-title-main">ATP1A3</span> Protein-coding gene in the species Homo sapiens

Sodium/potassium-transporting ATPase subunit alpha-3 is an enzyme that in humans is encoded by the ATP1A3 gene.

<span class="mw-page-title-main">Carbonic anhydrase VI</span> Protein-coding gene in the species Homo sapiens

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Hippocalcin-like protein 1 is a protein that in humans is encoded by the HPCAL1 gene.

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<span class="mw-page-title-main">ACTL6B</span> Protein-coding gene in the species Homo sapiens

Actin-like protein 6B is a protein that in humans is encoded by the ACTL6B gene.

<span class="mw-page-title-main">Carbonic anhydrase 14</span> Protein-coding gene in the species Homo sapiens

Carbonic anhydrase 14 is an enzyme that in humans is encoded by the CA14 gene.

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Carbonic anhydrase 5B, mitochondrial is an enzyme that in humans is encoded by the CA5B gene.

<span class="mw-page-title-main">Carbonic anhydrase 7</span> Protein-coding gene in the species Homo sapiens

Carbonic anhydrase 7 (CA7) is an enzyme that in humans is encoded by the CA7 gene.

<span class="mw-page-title-main">CA11</span> Protein-coding gene in the species Homo sapiens

Carbonic anhydrase-related protein 11 is a protein that in humans is encoded by the CA11 gene.

<span class="mw-page-title-main">Carbonic anhydrase 5A, mitochondrial</span> Protein-coding gene in the species Homo sapiens

Carbonic anhydrase 5A, mitochondrial is a protein that in humans is encoded by the CA5A gene.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000178538 - Ensembl, May 2017
  2. 1 2 3 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. 1 2 "Entrez Gene: CA8 carbonic anhydrase VIII".
  7. 1 2 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


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