LOCUS       NM_001215               1334 bp    mRNA    linear   PRI 11-SEP-2024
DEFINITION  Homo sapiens carbonic anhydrase 6 (CA6), transcript variant 1,
            mRNA.
ACCESSION   NM_001215
VERSION     NM_001215.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1334)
  AUTHORS   Li,Y., Pan,J., Li,H., Liu,Q., Ma,F., Xiao,L. and Zeng,X.
  TITLE     Association between LTF/MMP20/CA6/TAS1R2 polymorphisms and
            susceptibility to dental caries
  JOURNAL   Clin Oral Investig 28 (9), 508 (2024)
   PUBMED   39212776
  REMARK    GeneRIF: Association between LTF/MMP20/CA6/TAS1R2 polymorphisms and
            susceptibility to dental caries.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1334)
  AUTHORS   Subramanian,G., Ponnusamy,V., Vasanthakumar,K., Panneerselvan,P.,
            Krishnan,V. and Subramaniam,S.
  TITLE     The gustin gene variation at rs2274333 and PROP taster status
            affect dietary fat perception: a stepwise multiple regression model
            study
  JOURNAL   J Nutr Biochem 128, 109619 (2024)
   PUBMED   38467201
  REMARK    GeneRIF: The gustin gene variation at rs2274333 and PROP taster
            status affect dietary fat perception: a stepwise multiple
            regression model study.
REFERENCE   3  (bases 1 to 1334)
  AUTHORS   Lukasiewicz-Smietanska,D., Godlewski,D., Nowakowska,E., Szpak,A.,
            Chabros,E., Juszczyk,G., Charzewska,J. and Rybaczyk-Pathak,D.
  TITLE     Association of the bitter taste genes TAS2R38 and CA6 and breast
            cancer risk; a case-control study of Polish women in Poland and
            Polish immigrants in USA
  JOURNAL   PLoS One 19 (4), e0300061 (2024)
   PUBMED   38687739
  REMARK    GeneRIF: Association of the bitter taste genes TAS2R38 and CA6 and
            breast cancer risk; a case-control study of Polish women in Poland
            and Polish immigrants in USA.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1334)
  AUTHORS   Melis,M., Loi,E., Mastinu,M., Naciri,L.C., Zavattari,P. and
            Barbarossa,I.T.
  TITLE     Gene Methylation Affects Salivary Levels of the Taste Buds' Trophic
            Factor, Gustin Protein
  JOURNAL   Nutrients 16 (9), 1304 (2024)
   PUBMED   38732551
  REMARK    GeneRIF: Gene Methylation Affects Salivary Levels of the Taste
            Buds' Trophic Factor, Gustin Protein.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1334)
  AUTHORS   Al-Mahdi,R., Stangvaltaite-Mouhat,L., Aleksejuniene,J.,
            Stankeviciene,I., Tommeras,B., Puriene,A. and Al-Haroni,M.
  TITLE     Association between Carbonic Anhydrase VI Gene Copy Number
            Variations and Dental Caries Experience
  JOURNAL   Caries Res 57 (1), 67-73 (2023)
   PUBMED   37011600
  REMARK    GeneRIF: Association between Carbonic Anhydrase VI Gene Copy Number
            Variations and Dental Caries Experience.
REFERENCE   6  (bases 1 to 1334)
  AUTHORS   Ogawa,Y., Hong,S.S., Toyosawa,S., Kuwahara,H., Shimazaki,M. and
            Yagi,T.
  TITLE     Immunoelectron microscopy of carbonic anhydrase isozyme VI in human
            submandibular gland: comparison with isozymes I and II
  JOURNAL   J Histochem Cytochem 41 (3), 343-351 (1993)
   PUBMED   8429198
REFERENCE   7  (bases 1 to 1334)
  AUTHORS   Aldred,P., Fu,P., Barrett,G., Penschow,J.D., Wright,R.D.,
            Coghlan,J.P. and Fernley,R.T.
  TITLE     Human secreted carbonic anhydrase: cDNA cloning, nucleotide
            sequence, and hybridization histochemistry
  JOURNAL   Biochemistry 30 (2), 569-575 (1991)
   PUBMED   1899030
REFERENCE   8  (bases 1 to 1334)
  AUTHORS   Parkkila,S., Kaunisto,K., Rajaniemi,L., Kumpulainen,T., Jokinen,K.
            and Rajaniemi,H.
  TITLE     Immunohistochemical localization of carbonic anhydrase isoenzymes
            VI, II, and I in human parotid and submandibular glands
  JOURNAL   J Histochem Cytochem 38 (7), 941-947 (1990)
   PUBMED   2113069
REFERENCE   9  (bases 1 to 1334)
  AUTHORS   Sutherland,G.R., Baker,E., Fernandez,K.E., Callen,D.F., Aldred,P.,
            Coghlan,J.P., Wright,R.D. and Fernley,R.T.
  TITLE     The gene for human carbonic anhydrase VI(CA6) is on the tip of the
            short arm of chromosome 1
  JOURNAL   Cytogenet Cell Genet 50 (2-3), 149-150 (1989)
   PUBMED   2505973
REFERENCE   10 (bases 1 to 1334)
  AUTHORS   Murakami,H. and Sly,W.S.
  TITLE     Purification and characterization of human salivary carbonic
            anhydrase
  JOURNAL   J Biol Chem 262 (3), 1382-1388 (1987)
   PUBMED   2433278
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL139415.10, AK300652.1 and
            BX282262.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_001215.3.
            
            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].
            
            Transcript Variant: This variant (1) encodes a 308aa isoform (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: M57892.1, AK300652.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968832, SAMEA2142853
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: upstream AUG and CDS extension
                                                is not conserved
            MANE Ensembl match               :: ENST00000377443.7/
                                                ENSP00000366662.2
            RefSeq Select criteria           :: based on conservation,
                                                expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2                 AL139415.10        91287-91288
            3-1182              AK300652.1         1-1180
            1183-1334           BX282262.1         161-312
FEATURES             Location/Qualifiers
     source          1..1334
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.23"
     gene            1..1334
                     /gene="CA6"
                     /gene_synonym="CA-VI; GUSTIN"
                     /note="carbonic anhydrase 6"
                     /db_xref="GeneID:765"
                     /db_xref="HGNC:HGNC:1380"
                     /db_xref="MIM:114780"
     exon            1..98
                     /gene="CA6"
                     /gene_synonym="CA-VI; GUSTIN"
                     /inference="alignment:Splign:2.1.0"
     CDS             20..946
                     /gene="CA6"
                     /gene_synonym="CA-VI; GUSTIN"
                     /EC_number="4.2.1.1"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; carbonate dehydratase VI; salivary carbonic
                     anhydrase; secreted carbonic anhydrase; carbonic anhydrase
                     VI"
                     /codon_start=1
                     /product="carbonic anhydrase 6 isoform 1 precursor"
                     /protein_id="NP_001206.2"
                     /db_xref="CCDS:CCDS30578.1"
                     /db_xref="GeneID:765"
                     /db_xref="HGNC:HGNC:1380"
                     /db_xref="MIM:114780"
                     /translation="MRALVLLLSLFLLGGQAQHVSDWTYSEGALDEAHWPQHYPACGG
                     QRQSPINLQRTKVRYNPSLKGLNMTGYETQAGEFPMVNNGHTVQISLPSTMRMTVADG
                     TVYIAQQMHFHWGGASSEISGSEHTVDGIRHVIEIHIVHYNSKYKSYDIAQDAPDGLA
                     VLAAFVEVKNYPENTYYSNFISHLANIKYPGQRTTLTGLDVQDMLPRNLQHYYTYHGS
                     LTTPPCTENVHWFVLADFVKLSRTQVWKLENSLLDHRNKTIHNDYRRTQPLNHRVVES
                     NFPNQEYTLGSEFQFYLHKIEEILDYLRRALN"
     exon            99..278
                     /gene="CA6"
                     /gene_synonym="CA-VI; GUSTIN"
                     /inference="alignment:Splign:2.1.0"
     exon            279..427
                     /gene="CA6"
                     /gene_synonym="CA-VI; GUSTIN"
                     /inference="alignment:Splign:2.1.0"
     exon            428..520
                     /gene="CA6"
                     /gene_synonym="CA-VI; GUSTIN"
                     /inference="alignment:Splign:2.1.0"
     exon            521..590
                     /gene="CA6"
                     /gene_synonym="CA-VI; GUSTIN"
                     /inference="alignment:Splign:2.1.0"
     exon            591..748
                     /gene="CA6"
                     /gene_synonym="CA-VI; GUSTIN"
                     /inference="alignment:Splign:2.1.0"
     exon            749..863
                     /gene="CA6"
                     /gene_synonym="CA-VI; GUSTIN"
                     /inference="alignment:Splign:2.1.0"
     exon            864..1334
                     /gene="CA6"
                     /gene_synonym="CA-VI; GUSTIN"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1301..1306
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CA6"
                     /gene_synonym="CA-VI; GUSTIN"
                     /note="hexamer: AATAAA"
     polyA_site      1334
                     /gene="CA6"
                     /gene_synonym="CA-VI; GUSTIN"
                     /note="major polyA site"
ORIGIN      
        1 attacagatg tgcagcacca tgagggccct ggtgcttctg ctgtccctgt tcctgctggg
       61 tggccaggcc cagcatgtgt ctgactggac ctactcagaa ggggcactgg acgaagcgca
      121 ctggccacag cactaccccg cctgtggggg ccagagacag tcgcctatca acctacagag
      181 gacgaaggtg cggtacaacc cctccttgaa ggggctcaat atgacaggct atgagaccca
      241 ggcaggggag ttccccatgg tcaacaatgg ccacacagtg cagatcagcc tgccctccac
      301 catgcgcatg acagtggctg acggcactgt atacatagcc cagcagatgc actttcactg
      361 gggaggtgcg tcctcggaga tcagcggctc tgagcacacc gtggacggga tcagacatgt
      421 gatcgagatt cacattgttc actacaattc taaatacaag agctatgata tagcccaaga
      481 tgcgccggat ggtttggctg tactggcagc cttcgttgag gtgaagaatt accctgaaaa
      541 cacttattac agcaacttca tttctcatct ggccaacatc aagtacccag gacaaagaac
      601 aaccctgact ggccttgacg ttcaggacat gctgcccagg aacctccagc actactacac
      661 ctaccatggc tcactcacca cgcctccctg cactgagaac gtccactggt ttgtgctggc
      721 agattttgtc aagctctcca ggacacaggt ttggaagctg gagaattcct tactggatca
      781 ccgcaacaag accatccaca acgattaccg caggacccag cccctgaacc acagagtggt
      841 ggaatccaac ttcccgaatc aggaatacac tctaggctct gaattccagt tttacctaca
      901 taagattgag gaaattcttg actacttaag aagagcattg aactgaggaa agctaagagg
      961 aagattcaat attaactagc ttgaagcctg acctagccag aagtgcctgt ccgctgcagc
     1021 cgcaccctac cttgtctaag aaaccatgtg tgtctggaac acgctgctcc ccctggggca
     1081 gctgttggga ttctgattaa aagaggggaa acgatcatcc tggacaggaa gtgagatggc
     1141 ttcagttcat gagacgggat ctgagttaga catcaccagt ggaaattgat tggaatagaa
     1201 acttaaagga aatggaaccc taactattct cccatcaaat catatatgtt gacctgtctg
     1261 aattataaac cagcctgacc tttcctttag cattagatgt aataaaataa ctttggaaat
     1321 ttgtcattta aaaa
//
