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Gene : CA1 Homo sapiens

Name  ? carbonic anhydrase 1 Cytological Location  8q21.2
Brief Description  carbonic anhydrase 1
Description  Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva and gastric acid. They show extensive diversity in tissue distribution and in their subcellular localization. This CA1 gene is closely linked to the CA2 and CA3 genes on chromosome 8. It encodes a cytosolic protein that is found at the highest level in erythrocytes. Allelic variants of this gene have been described in some populations. Alternative splicing and the use of alternative promoters results in multiple transcript variants. [provided by RefSeq, Nov 2016]
  • synonyms:
  • Car1,
  • CA1,
  • uc003ydh.4,
  • M33987,
  • Car1,
  • CA-I,
  • carbonic anhydrase I,
  • OTTHUMG00000164941,
  • HGNC:1368,
  • NM_001738,
  • CAB,
  • HEL-S-11
  • identifiers:
  • 759,
  • ENSG00000133742,
  • CA1

Genome feature

Region: gene ? Length: 50506  
Location: 8:85327608-85378113 reverse strand Cyto location: 8q21.2


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Function

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Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Proteins

Gene --> Proteins.

SNPs

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Disease

0 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Interactions

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Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

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Other

179 SN Ps

5 Cross References

18 Data Sets

22 Homologues

0 Located Features

97 Rna Seq Results