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    CA6 carbonic anhydrase 6 [ Homo sapiens (human) ]

    Gene ID: 765, updated on 8-Dec-2022

    Summary

    Official Symbol
    CA6provided by HGNC
    Official Full Name
    carbonic anhydrase 6provided by HGNC
    Primary source
    HGNC:HGNC:1380
    See related
    Ensembl:ENSG00000131686 MIM:114780; AllianceGenome:HGNC:1380
    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
    CA-VI; GUSTIN
    Summary
    The protein encoded by this gene is one of several isozymes of carbonic anhydrase. This protein is found only in salivary glands and saliva and protein may play a role in the reversible hydratation of carbon dioxide though its function in saliva is unknown. [provided by RefSeq, Jul 2008]
    Expression
    Restricted expression toward salivary gland (RPKM 1381.7) See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See CA6 in Genome Data Viewer
    Location:
    1p36.23
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    110 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (8945868..8975092)
    110 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (8479556..8508762)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (9005927..9035151)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene high mobility group nucleosomal binding domain 2 pseudogene 17 Neighboring gene uncharacterized LOC112268261 Neighboring gene Sharpr-MPRA regulatory region 1652 Neighboring gene RNA, 7SL, cytoplasmic 451, pseudogene Neighboring gene solute carrier family 2 member 7

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC21256

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables carbonate dehydratase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
     
    located_in extracellular exosome HDA PubMed 
    located_in extracellular region TAS
    Traceable Author Statement
    more info
     
    located_in extracellular space HDA PubMed 
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    carbonic anhydrase 6
    Names
    carbonate dehydratase VI
    carbonic anhydrase VI
    salivary carbonic anhydrase
    secreted carbonic anhydrase
    NP_001206.2
    NP_001257429.1
    NP_001257430.1
    NP_001257431.1
    XP_011540385.1
    XP_011540386.1

    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.

    Genomic

    1. NG_033975.1 RefSeqGene

      Range
      5035..34259
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001215.4NP_001206.2  carbonic anhydrase 6 isoform 1 precursor

      See identical proteins and their annotated locations for NP_001206.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes a 308aa isoform (1).
      Source sequence(s)
      AK300652, AL139415, BX282262
      Consensus CDS
      CCDS30578.1
      UniProtKB/Swiss-Prot
      P23280, Q9UF03
      UniProtKB/TrEMBL
      B4DUH8
      Related
      ENSP00000366662.2, ENST00000377443.7
      Conserved Domains (1) summary
      cd03125
      Location:31279
      alpha_CA_VI; Carbonic anhydrase alpha, isozyme VI. 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 dioxide, followed ...
    2. NM_001270500.2NP_001257429.1  carbonic anhydrase 6 isoform 2 precursor

      See identical proteins and their annotated locations for NP_001257429.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region, compared to variant 1. The resulting isoform (2) has a longer and distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AB102863, AL139415
      Consensus CDS
      CCDS57970.1
      UniProtKB/Swiss-Prot
      P23280
      Related
      ENSP00000366654.3, ENST00000377436.6
      Conserved Domains (1) summary
      cd03125
      Location:31279
      alpha_CA_VI; Carbonic anhydrase alpha, isozyme VI. 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 dioxide, followed ...
    3. NM_001270501.2NP_001257430.1  carbonic anhydrase 6 isoform 3 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an in-frame exon in the 5' coding region, compared to variant 1. The resulting isoform (3) lacks an internal segment, compared to isoform 1.
      Source sequence(s)
      AB103091, AK300652, AL139415, BX282262
      Consensus CDS
      CCDS57971.1
      UniProtKB/Swiss-Prot
      P23280
      UniProtKB/TrEMBL
      B4DUH8
      Related
      ENSP00000366661.2, ENST00000377442.3
      Conserved Domains (1) summary
      cl00012
      Location:25219
      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 ...
    4. NM_001270502.2NP_001257431.1  carbonic anhydrase 6 isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks two consecutive exons in the 5' coding region, compared to variant 1. The resulting isoform (4) has a shorter and distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AK300652, BX282262, CB956732
      UniProtKB/TrEMBL
      B4DUH8
      Conserved Domains (1) summary
      cl00012
      Location:8151
      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 ...

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      8945868..8975092
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011542084.4XP_011540386.1  carbonic anhydrase 6 isoform X1

      Conserved Domains (1) summary
      cd03125
      Location:35283
      alpha_CA_VI; Carbonic anhydrase alpha, isozyme VI. 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 dioxide, followed ...
    2. XM_011542083.4XP_011540385.1  carbonic anhydrase 6 isoform X2

      Conserved Domains (1) summary
      cd03125
      Location:35283
      alpha_CA_VI; Carbonic anhydrase alpha, isozyme VI. 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 dioxide, followed ...

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      8479556..8508762
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)