CA6 carbonic anhydrase 6 [Homo sapiens (human)] - Gene

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: mouse all
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Genomic context

Location:: 1p36.23

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (8945868..8975092)
RS_2023_10	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_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Associations of the activity and concentration of carbonic anhydrase VI with susceptibility to dental caries: A systematic review and meta-analysis.
Title: Associations of the activity and concentration of carbonic anhydrase VI with susceptibility to dental caries: A systematic review and meta-analysis.
Association between Carbonic Anhydrase VI Gene Copy Number Variations and Dental Caries Experience.
Title: Association between Carbonic Anhydrase VI Gene Copy Number Variations and Dental Caries Experience.
Combined effect of starch and sucrose on carbonic anhydrase VI activity in saliva and biofilm of children with early childhood caries. Exposure to starch and sucrose alters carbonic anhydrase VI activity in saliva and biofilm.
Title: Combined effect of starch and sucrose on carbonic anhydrase VI activity in saliva and biofilm of children with early childhood caries. Exposure to starch and sucrose alters carbonic anhydrase VI activity in saliva and biofilm.
Taste Changes in Patients with Inflammatory Bowel Disease: Associations with PROP Phenotypes and polymorphisms in the salivary protein, Gustin and CD36 Receptor Genes.
Title: Taste Changes in Patients with Inflammatory Bowel Disease: Associations with PROP Phenotypes and polymorphisms in the salivary protein, Gustin and CD36 Receptor Genes.
Investigation of carbonic anhydrase 6 gene polymorphism rs2274327 in relation to the oral health status and salivary composition in type 2 diabetic patients.
Title: Investigation of carbonic anhydrase 6 gene polymorphism rs2274327 in relation to the oral health status and salivary composition in type 2 diabetic patients.
Results indicate that carbonic anhydrase VI (CA6) gene polymorphisms influence Streptococcus mutans colonization, tooth biofilm microbiota composition and risk of dental caries in Swedish adolescents.
Title: Carbonic Anhydrase 6 Gene Variation influences Oral Microbiota Composition and Caries Risk in Swedish adolescents.
Polymorphism in the CAVI gene can affect salivary properties but there is no direct connection with dental caries.
Title: Polymorphism in the CAVI gene, salivary properties and dental caries.
The current study suggests that genetic variation in TAS2R38 and CA6 influences picky eating in preschoolers.
Title: Variants in Chemosensory Genes Are Associated with Picky Eating Behavior in Preschool-Age Children.
Anti-CA6 was the most prevalent novel autoantibody in patients with dry eye, and was associated with younger age and more severe disease. Longitudinal studies are needed to determine whether anti-CA6 is a marker for early Sjogren's syndrome.
Title: Utility of Novel Autoantibodies in the Diagnosis of Sjögren's Syndrome Among Patients With Dry Eye.
CA6 is a specific marker for serous acinar cells of salivary glands and acinic cell carcinoma (AciCC).
Title: Carbonic anhydrase VI: a novel marker for salivary serous acinar differentiation and its application to discriminate acinic cell carcinoma from mammary analogue secretory carcinoma of the salivary gland.

Submit: New GeneRIF Correction See all GeneRIFs (27)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-74181 (e-PCR)
- UniSTS:33312

GDB:636125 (e-PCR)
- UniSTS:158528

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 detection of chemical stimulus involved in sensory perception of bitter taste	IDA Inferred from Direct Assay more info	PubMed
involved_in one-carbon metabolic process	IBA Inferred from Biological aspect of Ancestor more info

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

General protein information

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Preferred Names: carbonic anhydrase 6

Names: carbonate dehydratase VI; carbonic anhydrase VI; salivary carbonic anhydrase; secreted carbonic anhydrase

NP_001206.2

EC 4.2.1.1

NP_001257429.1

EC 4.2.1.1

NP_001257430.1

EC 4.2.1.1

NP_001257431.1

EC 4.2.1.1

XP_011540385.1

EC 4.2.1.1

XP_011540386.1

EC 4.2.1.1

XP_054194598.1

EC 4.2.1.1

XP_054194599.1

EC 4.2.1.1

NCBI Reference Sequences (RefSeq)

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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

NG_033975.1 RefSeqGene

Range

5035..34259

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001215.4 → NP_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

E7EMQ1, P23280, Q5FBW3, Q5FC00, Q96QX8, Q9UF03

UniProtKB/TrEMBL

B4DUH8

Related

ENSP00000366662.2, ENST00000377443.7

Conserved Domains (1) summary

cd03125
Location:31 → 279

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 ...
NM_001270500.2 → NP_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/TrEMBL

B4DUH8

Related

ENSP00000366654.3, ENST00000377436.6

Conserved Domains (1) summary

cd03125
Location:31 → 279

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 ...
NM_001270501.2 → NP_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:25 → 219

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 ...
NM_001270502.2 → NP_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:8 → 151

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: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

8945868..8975092

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

B4DUH8

Conserved Domains (1) summary

cd03125
Location:35 → 283

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 ...
XM_011542083.4 → XP_011540385.1 carbonic anhydrase 6 isoform X2

UniProtKB/TrEMBL

B4DUH8

Conserved Domains (1) summary

cd03125
Location:35 → 283

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 ...