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CA7 carbonic anhydrase 7 [ Homo sapiens (human) ]

Gene ID: 766, updated on 1-Jun-2020

Summary

Official Symbol
CA7provided by HGNC
Official Full Name
carbonic anhydrase 7provided by HGNC
Primary source
HGNC:HGNC:1381
See related
Ensembl:ENSG00000168748 MIM:114770
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CAVII; CA-VII
Summary
Carbonic anhydrases 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. The cytosolic protein encoded by this gene is predominantly expressed in the brain and contributes to bicarbonate driven GABAergic neuron excitation. Alternative splicing in the coding region results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2018]
Expression
Biased expression in colon (RPKM 16.2), small intestine (RPKM 3.6) and 2 other tissues See more
Orthologs

Genomic context

See CA7 in Genome Data Viewer
Location:
16q22.1
Exon count:
9
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (66844414..66854149)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (66878282..66888052)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC106699570 Neighboring gene telomere repeat binding bouquet formation protein 1 Neighboring gene NEDD8 activating enzyme E1 subunit 1 Neighboring gene pyruvate dehyrogenase phosphatase catalytic subunit 2 Neighboring gene uncharacterized LOC107984821 Neighboring gene VISTA enhancer hs1760

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
carbonate dehydratase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
carbonate dehydratase activity IEA
Inferred from Electronic Annotation
more info
 
hydro-lyase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
zinc ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
bicarbonate transport TAS
Traceable Author Statement
more info
 
one-carbon metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of cellular pH reduction IEA
Inferred from Electronic Annotation
more info
 
positive regulation of synaptic transmission, GABAergic IEA
Inferred from Electronic Annotation
more info
 
regulation of chloride transport IEA
Inferred from Electronic Annotation
more info
 
regulation of intracellular pH IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
cell IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
carbonic anhydrase 7
Names
carbonate dehydratase VII
carbonic anhydrase VII
carbonic dehydratase VII
NP_001014435.1
NP_001352266.1
NP_005173.1
XP_011521614.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001014435.2NP_001014435.1  carbonic anhydrase 7 isoform 2

    See identical proteins and their annotated locations for NP_001014435.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has a distinct 5' UTR and uses a downstream start codon compared to variant 1. It encodes isoform 2 which has a shorter N-terminus compared to isoform 1. Variants 2 and 3 encode the same protein.
    Source sequence(s)
    AC044802
    Consensus CDS
    CCDS42173.1
    UniProtKB/Swiss-Prot
    P43166
    Related
    ENSP00000377632.3, ENST00000394069.3
    Conserved Domains (1) summary
    cl00012
    Location:1206
    alpha_CA; Carbonic anhydrase alpha (vertebrate-like) group. Carbonic anhydrases (CAs) are zinc-containing enzymes that catalyze the reversible hydration of carbon dioxide in a two-step mechanism: a nucleophilic attack of a zinc-bound hydroxide ion on carbon ...
  2. NM_001365337.2NP_001352266.1  carbonic anhydrase 7 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) has a distinct 5' UTR and uses a downstream start codon compared to variant 1. It encodes isoform 2 which has a shorter N-terminus compared to isoform 1. Variants 2 and 3 encode the same protein.
    Source sequence(s)
    AC044802
    Conserved Domains (1) summary
    cl00012
    Location:1206
    alpha_CA; Carbonic anhydrase alpha (vertebrate-like) group. Carbonic anhydrases (CAs) are zinc-containing enzymes that catalyze the reversible hydration of carbon dioxide in a two-step mechanism: a nucleophilic attack of a zinc-bound hydroxide ion on carbon ...
  3. NM_005182.3NP_005173.1  carbonic anhydrase 7 isoform 1

    See identical proteins and their annotated locations for NP_005173.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents a shorter transcript but encodes the longer isoform (1).
    Source sequence(s)
    AC044802
    Consensus CDS
    CCDS10821.1
    UniProtKB/Swiss-Prot
    P43166
    Related
    ENSP00000345659.2, ENST00000338437.7
    Conserved Domains (1) summary
    cd03149
    Location:27262
    alpha_CA_VII; Carbonic anhydrase alpha, CA isozyme VII_like subgroup. Carbonic anhydrases (CAs) are zinc-containing enzymes that catalyze the reversible hydration of carbon dioxide in a two-step mechanism: a nucleophilic attack of a zinc-bound hydroxide ion on carbon ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

    Range
    66844414..66854149
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011523312.1XP_011521614.1  carbonic anhydrase 7 isoform X1

    See identical proteins and their annotated locations for XP_011521614.1

    UniProtKB/Swiss-Prot
    P43166
    Conserved Domains (1) summary
    cl00012
    Location:1206
    alpha_CA; Carbonic anhydrase alpha (vertebrate-like) group. Carbonic anhydrases (CAs) are zinc-containing enzymes that catalyze the reversible hydration of carbon dioxide in a two-step mechanism: a nucleophilic attack of a zinc-bound hydroxide ion on carbon ...
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