Human Gene CA6 (ENST00000377443.7_7) from GENCODE V47lift37
  Description: carbonic anhydrase 6, transcript variant 1 (from RefSeq NM_001215.4)
Gencode Transcript: ENST00000377443.7_7
Gencode Gene: ENSG00000131686.15_12
Transcript (Including UTRs)
   Position: hg19 chr1:9,005,927-9,035,151 Size: 29,225 Total Exon Count: 8 Strand: +
Coding Region
   Position: hg19 chr1:9,005,946-9,034,763 Size: 28,818 Coding Exon Count: 8 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:9,005,927-9,035,151)mRNA (may differ from genome)Protein (308 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: CAH6_HUMAN
DESCRIPTION: RecName: Full=Carbonic anhydrase 6; EC=4.2.1.1; AltName: Full=Carbonate dehydratase VI; AltName: Full=Carbonic anhydrase VI; Short=CA-VI; AltName: Full=Salivary carbonic anhydrase; AltName: Full=Secreted carbonic anhydrase; Flags: Precursor;
FUNCTION: Reversible hydration of carbon dioxide. Its role in saliva is unknown.
CATALYTIC ACTIVITY: H(2)CO(3) = CO(2) + H(2)O.
COFACTOR: Zinc (By similarity).
ENZYME REGULATION: Inhibited by coumarins, sulfonamide derivatives such as acetazolamide (AZA), saccharin and Foscarnet (phosphonoformate trisodium salt).
SUBCELLULAR LOCATION: Secreted.
TISSUE SPECIFICITY: Major constituent of saliva.
SIMILARITY: Belongs to the alpha-carbonic anhydrase family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: CA6
Diseases sorted by gene-association score: multilocular clear cell renal cell carcinoma (11), dental caries (10), tricuspid valve stenosis (9), herpangina (8), denture stomatitis (7), hand, foot and mouth disease (5), tricuspid valve insufficiency (5)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 7.63 RPKM in Skin - Sun Exposed (Lower leg)
Total median expression: 12.43 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR 0.00190.000 Picture PostScript Text
3' UTR -87.50388-0.226 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001148 - Carbonic_anhydrase_a
IPR023561 - Carbonic_anhydrase_a-class
IPR018338 - Carbonic_anhydrase_a-class_CS
IPR018428 - Carbonic_anhydrase_CA6

Pfam Domains:
PF00194 - Eukaryotic-type carbonic anhydrase

SCOP Domains:
51069 - Carbonic anhydrase
53933 - Microbial ribonucleases

Protein Data Bank (PDB) 3-D Structure
MuPIT help
3FE4 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P23280
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004089 carbonate dehydratase activity
GO:0008270 zinc ion binding
GO:0016829 lyase activity
GO:0046872 metal ion binding

Biological Process:
GO:0001580 detection of chemical stimulus involved in sensory perception of bitter taste
GO:0006730 one-carbon metabolic process
GO:0015701 bicarbonate transport

Cellular Component:
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  LP895144 - Sequence 8 from Patent EP3253886.
AK300652 - Homo sapiens cDNA FLJ60163 complete cds, highly similar to Carbonic anhydrase 6 precursor (EC 4.2.1.1).
BC034350 - Homo sapiens carbonic anhydrase VI, mRNA (cDNA clone MGC:21256 IMAGE:4746599), complete cds.
JF432775 - Synthetic construct Homo sapiens clone IMAGE:100074019 carbonic anhydrase VI (CA6) gene, encodes complete protein.
KJ901310 - Synthetic construct Homo sapiens clone ccsbBroadEn_10704 CA6 gene, encodes complete protein.
M57892 - Human carbonic anhydrase isozyme VI (CA6) mRNA, complete cds.
JD320346 - Sequence 301370 from Patent EP1572962.
JD386423 - Sequence 367447 from Patent EP1572962.
AB102863 - Homo sapiens CA6 mRNA for carbonic anhydrase VI nirs variant 1, complete cds.
AB103091 - Homo sapiens CA6 mRNA for carbonic anhydrase VI nirs variant 3, complete cds.
AK130528 - Homo sapiens cDNA FLJ27018 fis, clone SLV05773.
AB103090 - Homo sapiens CA6 mRNA for carbonic anhydrase VI nirs variant 2, complete cds.
JD310373 - Sequence 291397 from Patent EP1572962.
JD526460 - Sequence 507484 from Patent EP1572962.
JD495821 - Sequence 476845 from Patent EP1572962.
JD333124 - Sequence 314148 from Patent EP1572962.
JD244267 - Sequence 225291 from Patent EP1572962.
JD036735 - Sequence 17759 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P23280 (Reactome details) participates in the following event(s):

R-HSA-1237045 Carbonic Anhydrase VI hydrates carbon dioxide to bicarbonate and a proton
R-HSA-1237081 Carbonic anhydrase VI dehydrates bicarbonate to water and carbon dioxide
R-HSA-1475029 Reversible hydration of carbon dioxide
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: CAH6_HUMAN, E7EMQ1, ENST00000377443.1, ENST00000377443.2, ENST00000377443.3, ENST00000377443.4, ENST00000377443.5, ENST00000377443.6, NM_001215, P23280, Q5FBW3, Q5FC00, Q96QX8, Q9UF03, uc318nps.1, uc318nps.2
UCSC ID: ENST00000377443.7_7
RefSeq Accession: NM_001215.4
Protein: P23280 (aka CAH6_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.