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    CA7 carbonic anhydrase 7 [ Homo sapiens (human) ]

    Gene ID: 766, updated on 9-Dec-2024

    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; AllianceGenome:HGNC:1381
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See CA7 in Genome Data Viewer
    Location:
    16q22.1
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (66844414..66854147)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (72638709..72648442)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (66878317..66888050)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene DYNC1LI2 divergent transcript Neighboring gene telomere repeat binding bouquet formation protein 1 Neighboring gene MPRA-validated peak2617 silencer Neighboring gene NEDD8 activating enzyme E1 subunit 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7568 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:66864603-66865103 Neighboring gene uncharacterized LOC124903699 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:66878245-66878746 Neighboring gene MPRA-validated peak2618 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr16:66898937-66899130 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10942 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10943 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:66914460-66915232 Neighboring gene uncharacterized LOC124903700 Neighboring gene pyruvate dehydrogenase phosphatase catalytic subunit 2

    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables carbonate dehydratase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in neuron cellular homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of cellular pH reduction IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of synaptic transmission, GABAergic IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of chloride transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of intracellular pH IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in 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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      Consensus CDS
      CCDS42173.1
      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, Q541F0, Q86YU0
      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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      66844414..66854147
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      72638709..72648442
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)