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CA6 carbonic anhydrase 6 [ Homo sapiens (human) ]

Gene ID: 765, updated on 24-Nov-2020

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
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

Genomic context

See CA6 in Genome Data Viewer
Location:
1p36.23
Exon count:
10
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (8945868..8975092)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (9005893..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 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
carbonate dehydratase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
 
detection of chemical stimulus involved in sensory perception of bitter taste IDA
Inferred from Direct Assay
more info
PubMed 
one-carbon metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
extracellular exosome HDA PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space HDA PubMed 
extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 nirs variant 2
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)

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
    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 Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011542084.3XP_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_011542083.3XP_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 ...
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