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
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

Genomic context

Location:: 1p36.23

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
109.20191205	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_000001.11 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?

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.
genetic association studies in population of elderly women in Poland: Data suggest that SNPs in TAS2R38 (rs713598, rs1726866, rs10246939) and an SNP in CA6 (rs2274333) are associated with intake of and preferences for some foods (coffee and white cabbage) among the population studied. (TAS2R38 = taste receptor type 2 member 38; CA6 = carbonic anhydrase VI)
Title: TAS2R38 and CA6 genetic polymorphisms, frequency of bitter food intake, and blood biomarkers among elderly woman.
Results found that the CA VI gene polymorphism rs2274327 showed no correlation between salivary parameters and dental-oral health status in Eastern Anatolian Turkish children.
Title: Carbonic Anhydrase VI Gene Polymorphism rs2274327 Relationship Between Salivary Parameters and Dental-Oral Health Status in Children.
dental plaque amount, lactobacilli count, age, and saliva buffer capacity, as well as CA6 (T55M) gene polymorphism, explained total of 87.8% of variations in DMFT scores.
Title: Gene-environment Interactions in the Etiology of Dental Caries.
We also found that the haplotype (ACA) (rs2274328, rs17032907 and rs11576766)of the carbonic anhydrase VI was associated with a low number of decayed, missing, and filled teeth index with an odds ratio (95% confidence interval) of 0.635 (0.440-0.918).
Title: Genetic polymorphisms in the carbonic anhydrase VI gene and dental caries susceptibility.
Study showed that PROP (6-n-propylthiouracil) bitterness was due to TAS2R38 diplotypes, whereas the density of fungiform papillae was more closely associated with gustin genotypes
Title: The gustin (CA6) gene polymorphism, rs2274333 (A/G), is associated with fungiform papilla density, whereas PROP bitterness is mostly due to TAS2R38 in an ethnically-mixed population.
SNPs associated with taste perception and taste bud anatomy
Title: Exploring associations between taste perception, oral anatomy and polymorphisms in the carbonic anhydrase (gustin) gene CA6.
results suggest that polymorphisms in the CA6 gene are associated with the concentrations of secreted CA VI.
Title: Effect of genetic polymorphisms in CA6 gene on the expression and catalytic activity of human salivary carbonic anhydrase VI.

Submit: New GeneRIF Correction See all GeneRIFs (20)

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

Homology

Homologs of the CA6 gene: The CA6 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, and zebrafish.
Orthologs from Annotation Pipeline: 274 organisms have orthologs with human gene CA6
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
carbonate dehydratase activity	IEA Inferred from Electronic Annotation more info
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	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
extracellular exosome	HDA more info	PubMed
extracellular region	TAS Traceable Author Statement more info
extracellular space	HDA more info	PubMed
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 nirs variant 2; 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

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

P23280

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/Swiss-Prot

P23280

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: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p13 Primary Assembly

Range

8945868..8975092

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011542084.3 → XP_011540386.1 carbonic anhydrase 6 isoform X1

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_011542083.3 → XP_011540385.1 carbonic anhydrase 6 isoform X2

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 ...