LOCUS       NM_018646               2906 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens transient receptor potential cation channel subfamily
            V member 6 (TRPV6), mRNA.
ACCESSION   NM_018646 XM_499382
VERSION     NM_018646.6
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 2906)
  AUTHORS   Hilliard,C.B.
  TITLE     An overlooked African gene variant linked to the calcium selective
            channel TRPV6: A mini-review
  JOURNAL   Gene 872, 147429 (2023)
   PUBMED   37098383
  REMARK    GeneRIF: An overlooked African gene variant linked to the calcium
            selective channel TRPV6: A mini-review.
            Review article
REFERENCE   2  (bases 1 to 2906)
  AUTHORS   Hirai,S., Suzuki,M., Sakurai,Y., Nakano,S., Minowa,K., Eguchi,H.,
            Okazaki,Y. and Shimizu,T.
  TITLE     The Coexistence of TRPV6 Variants With Other
            Pancreatitis-Associated Genes Affects Pediatric-Onset Pancreatitis
  JOURNAL   J Pediatr Gastroenterol Nutr 76 (4), 483-488 (2023)
   PUBMED   36599151
  REMARK    GeneRIF: The Coexistence of TRPV6 Variants With Other
            Pancreatitis-Associated Genes Affects Pediatric-Onset Pancreatitis.
REFERENCE   3  (bases 1 to 2906)
  AUTHORS   Walker,V. and Vuister,G.W.
  TITLE     Biochemistry and pathophysiology of the Transient Potential
            Receptor Vanilloid 6 (TRPV6) calcium channel
  JOURNAL   Adv Clin Chem 113, 43-100 (2023)
   PUBMED   36858649
  REMARK    GeneRIF: Biochemistry and pathophysiology of the Transient
            Potential Receptor Vanilloid 6 (TRPV6) calcium channel.
            Review article
REFERENCE   4  (bases 1 to 2906)
  AUTHORS   Fecher-Trost,C., Wissenbach,U., Beck,A., Schalkowsky,P.,
            Stoerger,C., Doerr,J., Dembek,A., Simon-Thomas,M., Weber,A.,
            Wollenberg,P., Ruppert,T., Middendorff,R., Maurer,H.H. and
            Flockerzi,V.
  TITLE     The in vivo TRPV6 protein starts at a non-AUG triplet, decoded as
            methionine, upstream of canonical initiation at AUG
  JOURNAL   J Biol Chem 288 (23), 16629-16644 (2013)
   PUBMED   23612980
  REMARK    GeneRIF: A non-AUG start codon in used in both human and mouse,
            extending the N-terminus of the protein by 40 amino acids. The
            increased translation of the smaller TRPV6 cDNA version may
            overestimate the in vivo situation where translation efficiency may
            represent an additional mechanism to tightly control the
            TRPV6-mediated Ca(2+) entry to prevent deleterious Ca(2+) overload
REFERENCE   5  (bases 1 to 2906)
  AUTHORS   Akey,J.M., Swanson,W.J., Madeoy,J., Eberle,M. and Shriver,M.D.
  TITLE     TRPV6 exhibits unusual patterns of polymorphism and divergence in
            worldwide populations
  JOURNAL   Hum Mol Genet 15 (13), 2106-2113 (2006)
   PUBMED   16717058
  REMARK    GeneRIF: Data suggest that the rate of TRPV6 protein evolution is
            significantly accelerated in the human lineage and that the TRPV6
            haplotype defined by the derived alleles at C157R, M378V and M681T
            conferred a selective advantage.
REFERENCE   6  (bases 1 to 2906)
  AUTHORS   Peng,J.B., Brown,E.M. and Hediger,M.A.
  TITLE     Structural conservation of the genes encoding CaT1, CaT2, and
            related cation channels
  JOURNAL   Genomics 76 (1-3), 99-109 (2001)
   PUBMED   11549322
REFERENCE   7  (bases 1 to 2906)
  AUTHORS   Niemeyer,B.A., Bergs,C., Wissenbach,U., Flockerzi,V. and Trost,C.
  TITLE     Competitive regulation of CaT-like-mediated Ca2+ entry by protein
            kinase C and calmodulin
  JOURNAL   Proc Natl Acad Sci U S A 98 (6), 3600-3605 (2001)
   PUBMED   11248124
REFERENCE   8  (bases 1 to 2906)
  AUTHORS   Barley,N.F., Howard,A., O'Callaghan,D., Legon,S. and Walters,J.R.
  TITLE     Epithelial calcium transporter expression in human duodenum
  JOURNAL   Am J Physiol Gastrointest Liver Physiol 280 (2), G285-G290 (2001)
   PUBMED   11208552
  REMARK    GeneRIF: Gene expressed in human duodenum, placenta and pancreas
            homologous with calcium transporters/channels in other species.
            Function proposed to be calcium entry channel at apical membrane.
REFERENCE   9  (bases 1 to 2906)
  AUTHORS   Peng,J.B., Chen,X.Z., Berger,U.V., Weremowicz,S., Morton,C.C.,
            Vassilev,P.M., Brown,E.M. and Hediger,M.A.
  TITLE     Human calcium transport protein CaT1
  JOURNAL   Biochem Biophys Res Commun 278 (2), 326-332 (2000)
   PUBMED   11097838
REFERENCE   10 (bases 1 to 2906)
  AUTHORS   Shelton,C., LaRusch,J. and Whitcomb,D.C.
  TITLE     Pancreatitis Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   24624459
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC245427.3.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_018646.5.
            
            Summary: This gene encodes a member of a family of multipass
            membrane proteins that functions as calcium channels. The encoded
            protein contains N-terminal ankyrin repeats, which are required for
            channel assembly and regulation. Translation initiation for this
            protein occurs at a non-AUG start codon that is decoded as
            methionine. This gene is situated next to a closely related gene
            for transient receptor potential cation channel subfamily V member
            5 (TRPV5). This locus has experienced positive selection in
            non-African populations, resulting in several non-synonymous codon
            differences among individuals of different genetic backgrounds.
            [provided by RefSeq, Feb 2015].
            
            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 :: AJ243501.2, KF534785.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1968189,
                                           SAMEA1968540 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match       :: ENST00000359396.9/ ENSP00000352358.5
            non-AUG initiation codon :: PMID: 23612980
            RefSeq Select criteria   :: based on single protein-coding
                                        transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-357               AC245427.3         176489-176845       c
            358-455             AC245427.3         169029-169126       c
            456-578             AC245427.3         168751-168873       c
            579-716             AC245427.3         168242-168379       c
            717-815             AC245427.3         167839-167937       c
            816-991             AC245427.3         167508-167683       c
            992-1138            AC245427.3         166858-167004       c
            1139-1351           AC245427.3         166568-166780       c
            1352-1438           AC245427.3         166178-166264       c
            1439-1515           AC245427.3         166004-166080       c
            1516-1681           AC245427.3         165591-165756       c
            1682-1748           AC245427.3         165176-165242       c
            1749-2017           AC245427.3         164548-164816       c
            2018-2124           AC245427.3         163472-163578       c
            2125-2906           AC245427.3         162308-163089       c
FEATURES             Location/Qualifiers
     source          1..2906
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q34"
     gene            1..2906
                     /gene="TRPV6"
                     /gene_synonym="ABP/ZF; CAT1; CATL; ECAC2; HRPTTN;
                     HSA277909; LP6728; ZFAB"
                     /note="transient receptor potential cation channel
                     subfamily V member 6"
                     /db_xref="GeneID:55503"
                     /db_xref="HGNC:HGNC:14006"
                     /db_xref="MIM:606680"
     exon            1..357
                     /gene="TRPV6"
                     /gene_synonym="ABP/ZF; CAT1; CATL; ECAC2; HRPTTN;
                     HSA277909; LP6728; ZFAB"
                     /inference="alignment:Splign:2.1.0"
     CDS             110..2407
                     /gene="TRPV6"
                     /gene_synonym="ABP/ZF; CAT1; CATL; ECAC2; HRPTTN;
                     HSA277909; LP6728; ZFAB"
                     /exception="alternative start codon"
                     /note="non-AUG (ACG) translation initiation codon;
                     epithelial calcium channel 2; epithelial apical membrane
                     calcium transporter/channel CaT1; Alu-binding protein with
                     zinc finger domain; calcium transport protein 1; calcium
                     transporter-like protein"
                     /codon_start=1
                     /transl_except=(pos:110..112,aa:Met)
                     /product="transient receptor potential cation channel
                     subfamily V member 6"
                     /protein_id="NP_061116.5"
                     /db_xref="CCDS:CCDS5874.2"
                     /db_xref="GeneID:55503"
                     /db_xref="HGNC:HGNC:14006"
                     /db_xref="MIM:606680"
                     /translation="MGPLQGDGGPALGGADVAPRLSPVRVWPRPQAPKEPALHPMGLS
                     LPKEKGLILCLWSKFCRWFQRRESWAQSRDEQNLLQQKRIWESPLLLAAKDNDVQALN
                     KLLKYEDCKVHQRGAMGETALHIAALYDNLEAAMVLMEAAPELVFEPMTSELYEGQTA
                     LHIAVVNQNMNLVRALLARRASVSARATGTAFRRSPCNLIYFGEHPLSFAACVNSEEI
                     VRLLIEHGADIRAQDSLGNTVLHILILQPNKTFACQMYNLLLSYDRHGDHLQPLDLVP
                     NHQGLTPFKLAGVEGNTVMFQHLMQKRKHTQWTYGPLTSTLYDLTEIDSSGDEQSLLE
                     LIITTKKREARQILDQTPVKELVSLKWKRYGRPYFCMLGAIYLLYIICFTMCCIYRPL
                     KPRTNNRTSPRDNTLLQQKLLQEAYMTPKDDIRLVGELVTVIGAIIILLVEVPDIFRM
                     GVTRFFGQTILGGPFHVLIITYAFMVLVTMVMRLISASGEVVPMSFALVLGWCNVMYF
                     ARGFQMLGPFTIMIQKMIFGDLMRFCWLMAVVILGFASAFYIIFQTEDPEELGHFYDY
                     PMALFSTFELFLTIIDGPANYNVDLPFMYSITYAAFAIIATLLMLNLLIAMMGDTHWR
                     VAHERDELWRAQIVATTVMLERKLPRCLWPRSGICGREYGLGDRWFLRVEDRQDLNRQ
                     RIQRYAQAFHTRGSEDLDKDSVEKLELGCPFSPHLSLPMPSVSRSTSRSSANWERLRQ
                     GTLRRDLRGIINRGLEDGESWEYQI"
     exon            358..455
                     /gene="TRPV6"
                     /gene_synonym="ABP/ZF; CAT1; CATL; ECAC2; HRPTTN;
                     HSA277909; LP6728; ZFAB"
                     /inference="alignment:Splign:2.1.0"
     exon            456..578
                     /gene="TRPV6"
                     /gene_synonym="ABP/ZF; CAT1; CATL; ECAC2; HRPTTN;
                     HSA277909; LP6728; ZFAB"
                     /inference="alignment:Splign:2.1.0"
     exon            579..716
                     /gene="TRPV6"
                     /gene_synonym="ABP/ZF; CAT1; CATL; ECAC2; HRPTTN;
                     HSA277909; LP6728; ZFAB"
                     /inference="alignment:Splign:2.1.0"
     exon            717..815
                     /gene="TRPV6"
                     /gene_synonym="ABP/ZF; CAT1; CATL; ECAC2; HRPTTN;
                     HSA277909; LP6728; ZFAB"
                     /inference="alignment:Splign:2.1.0"
     exon            816..991
                     /gene="TRPV6"
                     /gene_synonym="ABP/ZF; CAT1; CATL; ECAC2; HRPTTN;
                     HSA277909; LP6728; ZFAB"
                     /inference="alignment:Splign:2.1.0"
     exon            992..1138
                     /gene="TRPV6"
                     /gene_synonym="ABP/ZF; CAT1; CATL; ECAC2; HRPTTN;
                     HSA277909; LP6728; ZFAB"
                     /inference="alignment:Splign:2.1.0"
     exon            1139..1351
                     /gene="TRPV6"
                     /gene_synonym="ABP/ZF; CAT1; CATL; ECAC2; HRPTTN;
                     HSA277909; LP6728; ZFAB"
                     /inference="alignment:Splign:2.1.0"
     exon            1352..1438
                     /gene="TRPV6"
                     /gene_synonym="ABP/ZF; CAT1; CATL; ECAC2; HRPTTN;
                     HSA277909; LP6728; ZFAB"
                     /inference="alignment:Splign:2.1.0"
     exon            1439..1515
                     /gene="TRPV6"
                     /gene_synonym="ABP/ZF; CAT1; CATL; ECAC2; HRPTTN;
                     HSA277909; LP6728; ZFAB"
                     /inference="alignment:Splign:2.1.0"
     exon            1516..1681
                     /gene="TRPV6"
                     /gene_synonym="ABP/ZF; CAT1; CATL; ECAC2; HRPTTN;
                     HSA277909; LP6728; ZFAB"
                     /inference="alignment:Splign:2.1.0"
     exon            1682..1748
                     /gene="TRPV6"
                     /gene_synonym="ABP/ZF; CAT1; CATL; ECAC2; HRPTTN;
                     HSA277909; LP6728; ZFAB"
                     /inference="alignment:Splign:2.1.0"
     exon            1749..2017
                     /gene="TRPV6"
                     /gene_synonym="ABP/ZF; CAT1; CATL; ECAC2; HRPTTN;
                     HSA277909; LP6728; ZFAB"
                     /inference="alignment:Splign:2.1.0"
     exon            2018..2124
                     /gene="TRPV6"
                     /gene_synonym="ABP/ZF; CAT1; CATL; ECAC2; HRPTTN;
                     HSA277909; LP6728; ZFAB"
                     /inference="alignment:Splign:2.1.0"
     exon            2125..2906
                     /gene="TRPV6"
                     /gene_synonym="ABP/ZF; CAT1; CATL; ECAC2; HRPTTN;
                     HSA277909; LP6728; ZFAB"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2884..2889
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TRPV6"
                     /gene_synonym="ABP/ZF; CAT1; CATL; ECAC2; HRPTTN;
                     HSA277909; LP6728; ZFAB"
                     /note="hexamer: AATAAA"
     polyA_site      2906
                     /gene="TRPV6"
                     /gene_synonym="ABP/ZF; CAT1; CATL; ECAC2; HRPTTN;
                     HSA277909; LP6728; ZFAB"
                     /note="major polyA site"
ORIGIN      
        1 agagtcctgg ctggctctgc caagtgtaac aaactcacag ccctctccaa actggctggg
       61 gctgctggga gactcccaag gaactcgtca ggaaggcagg agacaggaga cgggacctct
      121 acagggagac ggtgggccgg cccttggggg ggctgatgtg gccccaaggc tgagtcccgt
      181 cagggtctgg cctcggcctc aggcccccaa ggagccggcc ctacacccca tgggtttgtc
      241 actgcccaag gagaaagggc taattctctg cctatggagc aagttctgca gatggttcca
      301 gagacgggag tcctgggccc agagccgaga tgagcagaac ctgctgcagc agaagaggat
      361 ctgggagtct cctctccttc tagctgccaa agataatgat gtccaggccc tgaacaagtt
      421 gctcaagtat gaggattgca aggtgcacca gagaggagcc atgggggaaa cagcgctaca
      481 catagcagcc ctctatgaca acctggaggc cgccatggtg ctgatggagg ctgccccgga
      541 gctggtcttt gagcccatga catctgagct ctatgagggt cagactgcac tgcacatcgc
      601 tgttgtgaac cagaacatga acctggtgcg agccctgctt gcccgcaggg ccagtgtctc
      661 tgccagagcc acaggcactg ccttccgccg tagtccctgc aacctcatct actttgggga
      721 gcaccctttg tcctttgctg cctgtgtgaa cagtgaggag atcgtgcggc tgctcattga
      781 gcatggagct gacatccggg cccaggactc cctgggaaac acagtgttac acatcctcat
      841 cctccagccc aacaaaacct ttgcctgcca gatgtacaac ctgttgctgt cctacgacag
      901 acatggggac cacctgcagc ccctggacct cgtgcccaat caccagggtc tcaccccttt
      961 caagctggct ggagtggagg gtaacactgt gatgtttcag cacctgatgc agaagcggaa
     1021 gcacacccag tggacgtatg gaccactgac ctcgactctc tatgacctca cagagatcga
     1081 ctcctcaggg gatgagcagt ccctgctgga acttatcatc accaccaaga agcgggaggc
     1141 tcgccagatc ctggaccaga cgccggtgaa ggagctggtg agcctcaagt ggaagcggta
     1201 cgggcggccg tacttctgca tgctgggtgc catatatctg ctgtacatca tctgcttcac
     1261 catgtgctgc atctaccgcc ccctcaagcc caggaccaat aaccgcacga gcccccggga
     1321 caacaccctc ttacagcaga agctacttca ggaagcctac atgaccccta aggacgatat
     1381 ccggctggtc ggggagctgg tgactgtcat tggggctatc atcatcctgc tggtagaggt
     1441 tccagacatc ttcagaatgg gggtcactcg cttctttgga cagaccatcc ttgggggccc
     1501 attccatgtc ctcatcatca cctatgcctt catggtgctg gtgaccatgg tgatgcggct
     1561 catcagtgcc agcggggagg tggtacccat gtcctttgca ctcgtgctgg gctggtgcaa
     1621 cgtcatgtac ttcgcccgag gattccagat gctaggcccc ttcaccatca tgattcagaa
     1681 gatgattttt ggcgacctga tgcgattctg ctggctgatg gctgtggtca tcctgggctt
     1741 tgcttcagcc ttctatatca tcttccagac agaggacccc gaggagctag gccacttcta
     1801 cgactacccc atggccctgt tcagcacctt cgagctgttc cttaccatca tcgatggccc
     1861 agccaactac aacgtggacc tgcccttcat gtacagcatc acctatgctg cctttgccat
     1921 catcgccaca ctgctcatgc tcaacctcct cattgccatg atgggcgaca ctcactggcg
     1981 agtggcccat gagcgggatg agctgtggag ggcccagatt gtggccacca cagtgatgct
     2041 ggagcggaag ctgcctcgct gcctgtggcc tcgctccggg atctgcggac gggagtatgg
     2101 cctgggagac cgctggttcc tgcgggtgga agacaggcaa gatctcaacc ggcagcggat
     2161 ccaacgctac gcacaggcct tccacacccg gggctctgag gatttggaca aagactcagt
     2221 ggaaaaacta gagctgggct gtcccttcag cccccacctg tcccttccta tgccctcagt
     2281 gtctcgaagt acctcccgca gcagtgccaa ttgggaaagg cttcggcaag ggaccctgag
     2341 gagagacctg cgtgggataa tcaacagggg tctggaggac ggggagagct gggaatatca
     2401 gatctgactg cgtgttctca cttcgcttcc tggaacttgc tctcattttc ctgggtgcat
     2461 caaacaaaac aaaaaccaaa cacccagagg tctcatctcc caggccccag gggagaaaga
     2521 ggagtagcat gaacgccaag gaatgtacgt tgagaatcac tgctccaggc ctgcattact
     2581 ccttcagctc tggggcagag gaagcccagc ccaagcacgg ggctggcagg gcgtgaggaa
     2641 ctctcctgtg gcctgctcat cacccttccg acaggagcac tgcatgtcag agcactttaa
     2701 aaacaggcca gcctgcttgg gcgctcggtc tccaccccag ggtcataagt ggggagagag
     2761 cccttcccag ggcacccagg caggtgcagg gaagtgcaga gcttgtggaa agcgtgtgag
     2821 tgagggagac aggaacggct ctgggggtgg gaagtggggc taggtcttgc caactccatc
     2881 ttcaataaag tcgttttcgg atccct
//
