LOCUS       NM_173851               5476 bp    mRNA    linear   PRI 03-AUG-2024
DEFINITION  Homo sapiens solute carrier family 30 member 8 (SLC30A8),
            transcript variant 1, mRNA.
ACCESSION   NM_173851
VERSION     NM_173851.3
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 5476)
  AUTHORS   Jaffredo,M., Krentz,N.A.J., Champon,B., Duff,C.E., Nawaz,S.,
            Beer,N., Honore,C., Clark,A., Rorsman,P., Lang,J., Gloyn,A.L.,
            Raoux,M. and Hastoy,B.
  TITLE     Electrophysiological Characterization of Inducible Pluripotent Stem
            Cell-Derived Human beta-Like Cells and an SLC30A8 Disease Model
  JOURNAL   Diabetes 73 (8), 1255-1265 (2024)
   PUBMED   38985991
  REMARK    GeneRIF: Electrophysiological Characterization of Inducible
            Pluripotent Stem Cell-Derived Human beta-Like Cells and an SLC30A8
            Disease Model.
REFERENCE   2  (bases 1 to 5476)
  AUTHORS   Hu,M., Kim,I., Moran,I., Peng,W., Sun,O., Bonnefond,A., Khamis,A.,
            Bonas-Guarch,S., Froguel,P. and Rutter,G.A.
  TITLE     Multiple genetic variants at the SLC30A8 locus affect local
            super-enhancer activity and influence pancreatic beta-cell survival
            and function
  JOURNAL   FASEB J 38 (8), e23610 (2024)
   PUBMED   38661000
  REMARK    GeneRIF: Multiple genetic variants at the SLC30A8 locus affect
            local super-enhancer activity and influence pancreatic beta-cell
            survival and function.
REFERENCE   3  (bases 1 to 5476)
  AUTHORS   Nguyen,L.T.D., Gunathilake,M., Lee,J., Oh,J.H., Chang,H.J.,
            Sohn,D.K., Shin,A. and Kim,J.
  TITLE     Zinc intake, SLC30A8 rs3802177 polymorphism, and colorectal cancer
            risk in a Korean population: a case-control study
  JOURNAL   J Cancer Res Clin Oncol 149 (18), 16429-16440 (2023)
   PUBMED   37707576
  REMARK    GeneRIF: Zinc intake, SLC30A8 rs3802177 polymorphism, and
            colorectal cancer risk in a Korean population: a case-control
            study.
REFERENCE   4  (bases 1 to 5476)
  AUTHORS   Xie,W., Zhang,L., Wang,J. and Wang,Y.
  TITLE     Association of HHEX and SLC30A8 Gene Polymorphisms with Gestational
            Diabetes Mellitus Susceptibility: A Meta-analysis
  JOURNAL   Biochem Genet 61 (6), 2203-2221 (2023)
   PUBMED   37103601
  REMARK    GeneRIF: Association of HHEX and SLC30A8 Gene Polymorphisms with
            Gestational Diabetes Mellitus Susceptibility: A Meta-analysis.
            Review article
REFERENCE   5  (bases 1 to 5476)
  AUTHORS   Zeng,Q., Tan,B., Han,F., Huang,X., Huang,J., Wei,Y. and Guo,R.
  TITLE     Association of solute carrier family 30 A8 zinc transporter gene
            variations with gestational diabetes mellitus risk in a Chinese
            population
  JOURNAL   Front Endocrinol (Lausanne) 14, 1159714 (2023)
   PUBMED   37324267
  REMARK    GeneRIF: Association of solute carrier family 30 A8 zinc
            transporter gene variations with gestational diabetes mellitus risk
            in a Chinese population.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 5476)
  AUTHORS   Sladek,R., Rocheleau,G., Rung,J., Dina,C., Shen,L., Serre,D.,
            Boutin,P., Vincent,D., Belisle,A., Hadjadj,S., Balkau,B., Heude,B.,
            Charpentier,G., Hudson,T.J., Montpetit,A., Pshezhetsky,A.V.,
            Prentki,M., Posner,B.I., Balding,D.J., Meyre,D., Polychronakos,C.
            and Froguel,P.
  TITLE     A genome-wide association study identifies novel risk loci for type
            2 diabetes
  JOURNAL   Nature 445 (7130), 881-885 (2007)
   PUBMED   17293876
  REMARK    GeneRIF: Observational study and genome-wide association study of
            gene-disease association. (HuGE Navigator)
            GeneRIF: A non-synonymous polymorphism in SLC30A8 (rs13266634,
            R325W) is associated with increased risk of developing type 2
            diabetes in causcasians.
REFERENCE   7  (bases 1 to 5476)
  AUTHORS   Chimienti,F., Devergnas,S., Pattou,F., Schuit,F., Garcia-Cuenca,R.,
            Vandewalle,B., Kerr-Conte,J., Van Lommel,L., Grunwald,D., Favier,A.
            and Seve,M.
  TITLE     In vivo expression and functional characterization of the zinc
            transporter ZnT8 in glucose-induced insulin secretion
  JOURNAL   J Cell Sci 119 (Pt 20), 4199-4206 (2006)
   PUBMED   16984975
REFERENCE   8  (bases 1 to 5476)
  AUTHORS   Chimienti,F., Favier,A. and Seve,M.
  TITLE     ZnT-8, a pancreatic beta-cell-specific zinc transporter
  JOURNAL   Biometals 18 (4), 313-317 (2005)
   PUBMED   16158222
  REMARK    GeneRIF: ZnT-8 is a pancreatic beta-cell-specific zinc transporter
            [review]
            Review article
REFERENCE   9  (bases 1 to 5476)
  AUTHORS   Chimienti,F., Devergnas,S., Favier,A. and Seve,M.
  TITLE     Identification and cloning of a beta-cell-specific zinc
            transporter, ZnT-8, localized into insulin secretory granules
  JOURNAL   Diabetes 53 (9), 2330-2337 (2004)
   PUBMED   15331542
  REMARK    GeneRIF: ZnT-8 may be a major component for providing zinc to
            insulin maturation and/or storage processes in insulin-secreting
            pancreatic beta-cells.
REFERENCE   10 (bases 1 to 5476)
  AUTHORS   Seve,M., Chimienti,F., Devergnas,S. and Favier,A.
  TITLE     In silico identification and expression of SLC30 family genes: an
            expressed sequence tag data mining strategy for the
            characterization of zinc transporters' tissue expression
  JOURNAL   BMC Genomics 5 (1), 32 (2004)
   PUBMED   15154973
  REMARK    GeneRIF: identified the full-length sequences of SLC30A8, extending
            the SLC30 family to ten members; used an expressed sequence tag
            (EST) data mining strategy to determine the pattern of ZnT genes
            expression in tissues
            Publication Status: Online-Only
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BM565086.1, BU949895.1,
            AL713790.1, AY117411.1 and AC084114.8.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 28, 2019 this sequence version replaced NM_173851.2.
            
            Summary: The protein encoded by this gene is a zinc efflux
            transporter involved in the accumulation of zinc in intracellular
            vesicles. This gene is expressed at a high level only in the
            pancreas, particularly in islets of Langerhans. The encoded protein
            colocalizes with insulin in the secretory pathway granules of the
            insulin-secreting INS-1 cells. Allelic variants of this gene exist
            that confer susceptibility to diabetes mellitus,
            noninsulin-dependent (NIDDM). Several transcript variants encoding
            different isoforms have been found for this gene.[provided by
            RefSeq, Mar 2010].
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (a).
            
            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 :: AY117411.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2151405, SAMEA2153347
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000456015.7/ ENSP00000415011.2
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-103               BM565086.1         195-297
            104-657             BU949895.1         1-554
            658-997             AL713790.1         584-923
            998-1443            AY117411.1         665-1110
            1444-5476           AC084114.8         122240-126272       c
FEATURES             Location/Qualifiers
     source          1..5476
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q24.11"
     gene            1..5476
                     /gene="SLC30A8"
                     /gene_synonym="ZnT-8; ZNT8"
                     /note="solute carrier family 30 member 8"
                     /db_xref="GeneID:169026"
                     /db_xref="HGNC:HGNC:20303"
                     /db_xref="MIM:611145"
     exon            1..404
                     /gene="SLC30A8"
                     /gene_synonym="ZnT-8; ZNT8"
                     /inference="alignment:Splign:2.1.0"
     CDS             334..1443
                     /gene="SLC30A8"
                     /gene_synonym="ZnT-8; ZNT8"
                     /note="isoform a is encoded by transcript variant 1; zinc
                     transporter ZnT-8; solute carrier family 30 (zinc
                     transporter), member 8; proton-coupled zinc antiporter
                     SLC30A8"
                     /codon_start=1
                     /product="proton-coupled zinc antiporter SLC30A8 isoform
                     a"
                     /protein_id="NP_776250.2"
                     /db_xref="CCDS:CCDS6322.1"
                     /db_xref="GeneID:169026"
                     /db_xref="HGNC:HGNC:20303"
                     /db_xref="MIM:611145"
                     /translation="MEFLERTYLVNDKAAKMYAFTLESVELQQKPVNKDQCPRERPEE
                     LESGGMYHCHSGSKPTEKGANEYAYAKWKLCSASAICFIFMIAEVVGGHIAGSLAVVT
                     DAAHLLIDLTSFLLSLFSLWLSSKPPSKRLTFGWHRAEILGALLSILCIWVVTGVLVY
                     LACERLLYPDYQIQATVMIIVSSCAVAANIVLTVVLHQRCLGHNHKEVQANASVRAAF
                     VHALGDLFQSISVLISALIIYFKPEYKIADPICTFIFSILVLASTITILKDFSILLME
                     GVPKSLNYSGVKELILAVDGVLSVHSLHIWSLTMNQVILSAHVATAASRDSQVVRREI
                     AKALSKSFTMHSLTIQMESPVDQDPDCLFCEDPCD"
     exon            405..604
                     /gene="SLC30A8"
                     /gene_synonym="ZnT-8; ZNT8"
                     /inference="alignment:Splign:2.1.0"
     exon            605..751
                     /gene="SLC30A8"
                     /gene_synonym="ZnT-8; ZNT8"
                     /inference="alignment:Splign:2.1.0"
     exon            752..905
                     /gene="SLC30A8"
                     /gene_synonym="ZnT-8; ZNT8"
                     /inference="alignment:Splign:2.1.0"
     exon            906..1056
                     /gene="SLC30A8"
                     /gene_synonym="ZnT-8; ZNT8"
                     /inference="alignment:Splign:2.1.0"
     exon            1057..1162
                     /gene="SLC30A8"
                     /gene_synonym="ZnT-8; ZNT8"
                     /inference="alignment:Splign:2.1.0"
     exon            1163..1297
                     /gene="SLC30A8"
                     /gene_synonym="ZnT-8; ZNT8"
                     /inference="alignment:Splign:2.1.0"
     exon            1298..5476
                     /gene="SLC30A8"
                     /gene_synonym="ZnT-8; ZNT8"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2036..2041
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC30A8"
                     /gene_synonym="ZnT-8; ZNT8"
                     /note="hexamer: AATAAA"
     polyA_site      2058
                     /gene="SLC30A8"
                     /gene_synonym="ZnT-8; ZNT8"
                     /note="major polyA site"
     regulatory      2262..2267
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC30A8"
                     /gene_synonym="ZnT-8; ZNT8"
                     /note="hexamer: AATAAA"
     polyA_site      2281
                     /gene="SLC30A8"
                     /gene_synonym="ZnT-8; ZNT8"
                     /note="major polyA site"
     regulatory      2835..2840
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC30A8"
                     /gene_synonym="ZnT-8; ZNT8"
                     /note="hexamer: AATACA"
     polyA_site      2855
                     /gene="SLC30A8"
                     /gene_synonym="ZnT-8; ZNT8"
     regulatory      5456..5461
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC30A8"
                     /gene_synonym="ZnT-8; ZNT8"
                     /note="hexamer: AATAAA"
     polyA_site      5476
                     /gene="SLC30A8"
                     /gene_synonym="ZnT-8; ZNT8"
                     /note="major polyA site"
ORIGIN      
        1 aagctcttga gctcctctac ctcttagaaa gcacaattga atcagatatc atatgaaaga
       61 catacacact tcatgtaatg ctacctgcaa gtctccctag aaaagcagtt tttgtaggtg
      121 aaaacaatga agccaggtaa tattgcaagg aggctgtaat tttagcagac ctaccaacaa
      181 cactgatgta ggaagctcat tattttaatt tctggagcct tttaattttt tctttagaaa
      241 gtgtataaat aattgcagtg ctgctttgct tccaaaactg ggcagtgagt tcaacaacaa
      301 cgacaacaac agccgcagct catcctggcc gtcatggagt ttcttgaaag aacgtatctt
      361 gtgaatgata aagctgccaa gatgtatgct ttcacactag aaagtgtgga actccaacag
      421 aaaccggtga ataaagatca gtgtcccaga gagagaccag aggagctgga gtcaggaggc
      481 atgtaccact gccacagtgg ctccaagccc acagaaaagg gggcgaatga gtacgcctat
      541 gccaagtgga aactctgttc tgcttcagca atatgcttca ttttcatgat tgcagaggtc
      601 gtgggtgggc acattgctgg gagtcttgct gttgtcacag atgctgccca cctcttaatt
      661 gacctgacca gtttcctgct cagtctcttc tccctgtggt tgtcatcgaa gcctccctct
      721 aagcggctga catttggatg gcaccgagca gagatccttg gtgccctgct ctccatcctg
      781 tgcatctggg tggtgactgg cgtgctagtg tacctggcat gtgagcgcct gctgtatcct
      841 gattaccaga tccaggcgac tgtgatgatc atcgtttcca gctgcgcagt ggcggccaac
      901 attgtactaa ctgtggtttt gcaccagaga tgccttggcc acaatcacaa ggaagtacaa
      961 gccaatgcca gcgtcagagc tgcttttgtg catgcccttg gagatctatt tcagagtatc
     1021 agtgtgctaa ttagtgcact tattatctac tttaagccag agtataaaat agccgaccca
     1081 atctgcacat tcatcttttc catcctggtc ttggccagca ccatcactat cttaaaggac
     1141 ttctccatct tactcatgga aggtgtgcca aagagcctga attacagtgg tgtgaaagag
     1201 cttattttag cagtcgacgg ggtgctgtct gtgcacagcc tgcacatctg gtctctaaca
     1261 atgaatcaag taattctctc agctcatgtt gctacagcag ccagccggga cagccaagtg
     1321 gttcggagag aaattgctaa agcccttagc aaaagcttta cgatgcactc actcaccatt
     1381 cagatggaat ctccagttga ccaggacccc gactgccttt tctgtgaaga cccctgtgac
     1441 tagctcagtc acaccgtcag tttcccaaat ttgacaggcc accttcaaac atgctgctat
     1501 gcagtttctg catcatagaa aataaggaac caaaggaaga aattcatgtc atggtgcaat
     1561 gcacatttta tctatttatt tagttccatt caccatgaag gaagaggcac tgagatccat
     1621 caatcaattg gattatatac tgatcagtag ctgtgttcaa ttgcaggaat gtgtatatag
     1681 attattcctg agtggagccg aagtaacagc tgtttgtaac tatcggcaat accaaattca
     1741 tctcccttcc aataatgcat cttgagaaca cataggtaaa tttgaactca ggaaagtctt
     1801 actagaaatc agtggaaggg acaaatagtc acaaaatttt accaaaacat tagaaacaaa
     1861 aaataaggag agccaagtca ggaataaaag tgactctgta tgctaacgcc acattagaac
     1921 ttggttctct caccaagctg taatgtgatt tttttttcta ctctgaattg gaaatatgta
     1981 tgaatataca gagaagtgct tacaactaat ttttatttac ttgtcacatt ttggcaataa
     2041 atccctctta tttctaaatt ctaacttgtt tatttcaaaa ctttatataa tcactgttca
     2101 aaaggaaata ttttcaccta ccagagtgct taaacactgg caccagccaa agaatgtggt
     2161 tgtagagacc cagaagtctt caagaacagc cgacaaaaac attcgagttg accccaccaa
     2221 gttgttgcca cagataattt agatatttac ctgcaagaag gaataaagca gatgcaacca
     2281 attcattcag tccacgagca tgatgtgagc actgctttgt gctagacatt gggcttagca
     2341 ttgaaactat aaagaggaat cagacgcagc aagtgcttct gtgttctggt agcaactcaa
     2401 cactatctgt ggagagtaaa ctgaagatgt gcaggccaac attctggaaa tcctatgtca
     2461 atgggtttgg tttggaacct ggacttctgc atttttaaaa gttacccaga gatgcttcta
     2521 aagatgagcc atagtctaga agattgtcaa ccacaggagt tcattgagtg ggacagctag
     2581 acacatacat tggcagctac aatagtatca tgaattgcaa tgatgtagtg gggtataaaa
     2641 ggaaagcgat ggatattgcc ggatgggcat ggccagtgat gtttcacgtc attgaggtga
     2701 cagctctgct ggactttgaa ttacatatgg aggctctcca ggaagacgaa gaagagaagg
     2761 acattctagg caaaaagaag actaggcaca aggcacactt atgtttgtct gttagctttt
     2821 agttgaaaaa gcaaaataca tgatgcaaag aaacctctcc acgctgtgat ttttaaaact
     2881 acatactttt tgcaacttta tggttatgag tattgtagag aacaggagat aggtcttaga
     2941 tgatttttat gttgttgtca gactctagca aggtactaga aacctagcag gcattaataa
     3001 ttgttgaggc aatgactctg aggctatatc tgggccttgt cattatttat catttatatt
     3061 tgtatttttt tctgaaattt gagggccaag aaaacattga ctttgactga ggaggtcaca
     3121 tctgtgccat ctctgcaaat caatcagcac cactgaaata actacttagc attctgctga
     3181 gctttccctg ctcagtagag acaaatatac tcatccccca cctcagtgag cttgtttagg
     3241 caaccaggat tagagctgct caggttccca acgtctcctg ccacatcggg ttctcaaaat
     3301 ggaaagaatg gtttatgcca aatcactttt cctgtctgaa ggaccactga atggttttgt
     3361 ttttccatat tttgcatagg acgccctaaa gactaggtga cttggcaaac acacaagtgt
     3421 tagtataatt ctttgcttct gcttcttttt gaaaatcatg tttagatttg attttaagtc
     3481 agaaattcac tgaatgtcag gtaatcatta tggagggaga tttgtgtgtc aaccaaagta
     3541 attgtcccat ggccccaggg tatttctgtt gtttccctga aattctgctt ttttagtcag
     3601 ctagattgaa aactctgaac agtagatgtt tatatggcaa aatgcaagac aatctacaag
     3661 ggagatttta aggattttga gatgaaaaaa cagatgctac tcaggggctt tatgaaccat
     3721 ccatcaattc tgaagttctg actctcccat taccctttcc ctggtgtggt cagaactcca
     3781 ggtcactgga agttagtgga atcatgtagt tgaattcttt acttcaagac attgtattct
     3841 ctccagctat caaaacatta atgatctttt atgtcttttt tttgttattg ttatacttta
     3901 agttctgggg tacatgtgcg gaacatgtag gtttgttaca taggtataca tgtgccatgg
     3961 tggtttgctg cactcatcaa cctgtcatct acattctttt atgtctgtct ttcaaagcaa
     4021 cactctgttc ttctgagtag tgaaatcagg tcaactttac caccagcctc catttttaat
     4081 atgcttcacc atcatccagc acctacttaa gatttatcta gggctctgtg gtgatgttag
     4141 gacccataaa agaaatttat gccttccata tgtttggtta cagatgggaa atgggaatgt
     4201 tgaaggacat gaaagaaagg atgtttacac attaagcatc agttctgaag ctagattgtc
     4261 tgagtttgaa tcttagctct tccctttatt agctctgtga cctcgagcta gttacttaaa
     4321 tgctctgatc ctctatttcc tgatcagtga aacctcccta ttcaaatgtg tgagagttta
     4381 ataaattagg acacttaaaa atgttggagc agtgcatagc atgtagtgtt cagtacatgt
     4441 taaatgttgt tttttattat gtacaaacat gagtgggcac agaattttaa atcatctcaa
     4501 cttttgagaa attttgagtt atcaacaccg ttcccacaag acagtggcaa aattattggt
     4561 gagaattaaa cagctgtttc tcagaggaag caatggaggc ttgctgggat aaaggcattt
     4621 actgagaggc tgttacctag tgagagtgat gaattaatta aaatagtcga atccctttct
     4681 gactgtctct gaaagcttcc gcttttatct ttgaagagca gaattgtcac tccaaggaca
     4741 tttattaata aaaagaacaa ctgtccagtg caatgaaggc aaagtcatag gtctcccaag
     4801 tcttacccca ttcctgtgaa atatcaagtt cttggctttt ctctgtcatg tagcctcaac
     4861 tttctctgac cgggtgcatt tctttctctg gtttctaaat tgccagtggc aaatttggat
     4921 cacttactta atatctgtta aattttgtga cccaacaaag tcttttagca ctgtggtgtc
     4981 aaaaagaaaa acacctccca ggcatataca ttttatagat tcctggagaa tgttgctctc
     5041 cagctccatc cccacccaat gaaatatgat ccagagagtc ttgcaaagag acaagcctca
     5101 ttttccacaa ttagctctaa agtgcctcca ggaaatgatt ttctcagctc atctctctgt
     5161 attccctgtt ttggatcaca gggcaatctg tttaaatgac taattacaga aatcattaaa
     5221 ggcaccaagc aaatgtcatc tctgaataca cacatcccaa gctttacaaa tcctgcctgg
     5281 cttgacagtg atgaggccac ttaacagtcc agcgcaggcg gatgttaaaa aaaataaaaa
     5341 ggtgaccatc tgcggtttag ttttttaact ttctgatttc acacttaacg tctgtcattc
     5401 tgttactggg cacctgttta aattctattt taaaatgtta atgtgtgttg tttaaaataa
     5461 aatcaagaaa gagaga
//
