LOCUS       NM_021794               2983 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA.
ACCESSION   NM_021794 NM_020334
VERSION     NM_021794.4
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 2983)
  AUTHORS   Letronne,F., Laumet,G., Ayral,A.M., Chapuis,J., Demiautte,F.,
            Laga,M., Vandenberghe,M.E., Malmanche,N., Leroux,F., Eysert,F.,
            Sottejeau,Y., Chami,L., Flaig,A., Bauer,C., Dourlen,P.,
            Lesaffre,M., Delay,C., Huot,L., Dumont,J., Werkmeister,E.,
            Lafont,F., Mendes,T., Hansmannel,F., Dermaut,B., Deprez,B.,
            Herard,A.S., Dhenain,M., Souedet,N., Pasquier,F., Tulasne,D.,
            Berr,C., Hauw,J.J., Lemoine,Y., Amouyel,P., Mann,D., Deprez,R.,
            Checler,F., Hot,D., Delzescaux,T., Gevaert,K. and Lambert,J.C.
  TITLE     ADAM30 Downregulates APP-Linked Defects Through Cathepsin D
            Activation in Alzheimer's Disease
  JOURNAL   EBioMedicine 9, 278-292 (2016)
   PUBMED   27333034
  REMARK    GeneRIF: Expression of a biologically inactive ADAM30 mutation did
            not affect amyloid beta proteins secretion.
REFERENCE   2  (bases 1 to 2983)
  AUTHORS   Jostins,L., Ripke,S., Weersma,R.K., Duerr,R.H., McGovern,D.P.,
            Hui,K.Y., Lee,J.C., Schumm,L.P., Sharma,Y., Anderson,C.A.,
            Essers,J., Mitrovic,M., Ning,K., Cleynen,I., Theatre,E.,
            Spain,S.L., Raychaudhuri,S., Goyette,P., Wei,Z., Abraham,C.,
            Achkar,J.P., Ahmad,T., Amininejad,L., Ananthakrishnan,A.N.,
            Andersen,V., Andrews,J.M., Baidoo,L., Balschun,T., Bampton,P.A.,
            Bitton,A., Boucher,G., Brand,S., Buning,C., Cohain,A., Cichon,S.,
            D'Amato,M., De Jong,D., Devaney,K.L., Dubinsky,M., Edwards,C.,
            Ellinghaus,D., Ferguson,L.R., Franchimont,D., Fransen,K.,
            Gearry,R., Georges,M., Gieger,C., Glas,J., Haritunians,T., Hart,A.,
            Hawkey,C., Hedl,M., Hu,X., Karlsen,T.H., Kupcinskas,L.,
            Kugathasan,S., Latiano,A., Laukens,D., Lawrance,I.C., Lees,C.W.,
            Louis,E., Mahy,G., Mansfield,J., Morgan,A.R., Mowat,C., Newman,W.,
            Palmieri,O., Ponsioen,C.Y., Potocnik,U., Prescott,N.J.,
            Regueiro,M., Rotter,J.I., Russell,R.K., Sanderson,J.D., Sans,M.,
            Satsangi,J., Schreiber,S., Simms,L.A., Sventoraityte,J.,
            Targan,S.R., Taylor,K.D., Tremelling,M., Verspaget,H.W., De Vos,M.,
            Wijmenga,C., Wilson,D.C., Winkelmann,J., Xavier,R.J., Zeissig,S.,
            Zhang,B., Zhang,C.K., Zhao,H., Silverberg,M.S., Annese,V.,
            Hakonarson,H., Brant,S.R., Radford-Smith,G., Mathew,C.G.,
            Rioux,J.D., Schadt,E.E., Daly,M.J., Franke,A., Parkes,M.,
            Vermeire,S., Barrett,J.C. and Cho,J.H.
  CONSRTM   International IBD Genetics Consortium (IIBDGC)
  TITLE     Host-microbe interactions have shaped the genetic architecture of
            inflammatory bowel disease
  JOURNAL   Nature 491 (7422), 119-124 (2012)
   PUBMED   23128233
REFERENCE   3  (bases 1 to 2983)
  AUTHORS   Hu,C., Zhang,R., Wang,C., Wang,J., Ma,X., Lu,J., Qin,W., Hou,X.,
            Wang,C., Bao,Y., Xiang,K. and Jia,W.
  TITLE     PPARG, KCNJ11, CDKAL1, CDKN2A-CDKN2B, IDE-KIF11-HHEX, IGF2BP2 and
            SLC30A8 are associated with type 2 diabetes in a Chinese population
  JOURNAL   PLoS One 4 (10), e7643 (2009)
   PUBMED   19862325
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2983)
  AUTHORS   Lango,H., Palmer,C.N., Morris,A.D., Zeggini,E., Hattersley,A.T.,
            McCarthy,M.I., Frayling,T.M. and Weedon,M.N.
  CONSRTM   UK Type 2 Diabetes Genetics Consortium
  TITLE     Assessing the combined impact of 18 common genetic variants of
            modest effect sizes on type 2 diabetes risk
  JOURNAL   Diabetes 57 (11), 3129-3135 (2008)
   PUBMED   18591388
  REMARK    GeneRIF: Observational study of gene-disease association and
            gene-gene interaction. (HuGE Navigator)
REFERENCE   5  (bases 1 to 2983)
  AUTHORS   Zeggini,E., Scott,L.J., Saxena,R., Voight,B.F., Marchini,J.L.,
            Hu,T., de Bakker,P.I., Abecasis,G.R., Almgren,P., Andersen,G.,
            Ardlie,K., Bostrom,K.B., Bergman,R.N., Bonnycastle,L.L.,
            Borch-Johnsen,K., Burtt,N.P., Chen,H., Chines,P.S., Daly,M.J.,
            Deodhar,P., Ding,C.J., Doney,A.S., Duren,W.L., Elliott,K.S.,
            Erdos,M.R., Frayling,T.M., Freathy,R.M., Gianniny,L., Grallert,H.,
            Grarup,N., Groves,C.J., Guiducci,C., Hansen,T., Herder,C.,
            Hitman,G.A., Hughes,T.E., Isomaa,B., Jackson,A.U., Jorgensen,T.,
            Kong,A., Kubalanza,K., Kuruvilla,F.G., Kuusisto,J., Langenberg,C.,
            Lango,H., Lauritzen,T., Li,Y., Lindgren,C.M., Lyssenko,V.,
            Marvelle,A.F., Meisinger,C., Midthjell,K., Mohlke,K.L.,
            Morken,M.A., Morris,A.D., Narisu,N., Nilsson,P., Owen,K.R.,
            Palmer,C.N., Payne,F., Perry,J.R., Pettersen,E., Platou,C.,
            Prokopenko,I., Qi,L., Qin,L., Rayner,N.W., Rees,M., Roix,J.J.,
            Sandbaek,A., Shields,B., Sjogren,M., Steinthorsdottir,V.,
            Stringham,H.M., Swift,A.J., Thorleifsson,G., Thorsteinsdottir,U.,
            Timpson,N.J., Tuomi,T., Tuomilehto,J., Walker,M., Watanabe,R.M.,
            Weedon,M.N., Willer,C.J., Illig,T., Hveem,K., Hu,F.B., Laakso,M.,
            Stefansson,K., Pedersen,O., Wareham,N.J., Barroso,I.,
            Hattersley,A.T., Collins,F.S., Groop,L., McCarthy,M.I., Boehnke,M.
            and Altshuler,D.
  CONSRTM   Wellcome Trust Case Control Consortium
  TITLE     Meta-analysis of genome-wide association data and large-scale
            replication identifies additional susceptibility loci for type 2
            diabetes
  JOURNAL   Nat Genet 40 (5), 638-645 (2008)
   PUBMED   18372903
REFERENCE   6  (bases 1 to 2983)
  AUTHORS   Clark,H.F., Gurney,A.L., Abaya,E., Baker,K., Baldwin,D., Brush,J.,
            Chen,J., Chow,B., Chui,C., Crowley,C., Currell,B., Deuel,B.,
            Dowd,P., Eaton,D., Foster,J., Grimaldi,C., Gu,Q., Hass,P.E.,
            Heldens,S., Huang,A., Kim,H.S., Klimowski,L., Jin,Y., Johnson,S.,
            Lee,J., Lewis,L., Liao,D., Mark,M., Robbie,E., Sanchez,C.,
            Schoenfeld,J., Seshagiri,S., Simmons,L., Singh,J., Smith,V.,
            Stinson,J., Vagts,A., Vandlen,R., Watanabe,C., Wieand,D., Woods,K.,
            Xie,M.H., Yansura,D., Yi,S., Yu,G., Yuan,J., Zhang,M., Zhang,Z.,
            Goddard,A., Wood,W.I., Godowski,P. and Gray,A.
  TITLE     The secreted protein discovery initiative (SPDI), a large-scale
            effort to identify novel human secreted and transmembrane proteins:
            a bioinformatics assessment
  JOURNAL   Genome Res 13 (10), 2265-2270 (2003)
   PUBMED   12975309
  REMARK    Erratum:[Genome Res. 2003 Dec;13(12):2759]
REFERENCE   7  (bases 1 to 2983)
  AUTHORS   Cerretti,D.P., DuBose,R.F., Black,R.A. and Nelson,N.
  TITLE     Isolation of two novel metalloproteinase-disintegrin (ADAM) cDNAs
            that show testis-specific gene expression
  JOURNAL   Biochem Biophys Res Commun 263 (3), 810-815 (1999)
   PUBMED   10512762
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL359752.11 and BC028372.2.
            
            On May 17, 2019 this sequence version replaced NM_021794.3.
            
            Summary: This gene encodes a member of the ADAM (a disintegrin and
            metalloprotease domain) family. Members of this family are
            membrane-anchored proteins structurally related to snake venom
            disintegrins, and have been implicated in a variety of biological
            processes involving cell-cell and cell-matrix interactions,
            including fertilization, muscle development, and neurogenesis. This
            gene is testis-specific and contains a polymorphic region,
            resulting in isoforms with varying numbers of C-terminal repeats.
            [provided by RefSeq, Jul 2008].
            
            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.
            
            ##Evidence-Data-START##
            Transcript is intronless :: BC028372.2, AK292483.1 [ECO:0000345]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000369400.2/ ENSP00000358407.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2940              AL359752.11        103105-106044       c
            2941-2983           BC028372.2         2921-2963
FEATURES             Location/Qualifiers
     source          1..2983
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p12"
     gene            1..2983
                     /gene="ADAM30"
                     /gene_synonym="svph4"
                     /note="ADAM metallopeptidase domain 30"
                     /db_xref="GeneID:11085"
                     /db_xref="HGNC:HGNC:208"
                     /db_xref="MIM:604779"
     exon            1..2983
                     /gene="ADAM30"
                     /gene_synonym="svph4"
                     /inference="alignment:Splign:2.1.0"
     CDS             180..2552
                     /gene="ADAM30"
                     /gene_synonym="svph4"
                     /note="a disintegrin and metalloproteinase domain 30;
                     disintegrin and metalloproteinase domain-containing
                     protein 30"
                     /codon_start=1
                     /product="disintegrin and metalloproteinase
                     domain-containing protein 30 preproprotein"
                     /protein_id="NP_068566.2"
                     /db_xref="CCDS:CCDS907.1"
                     /db_xref="GeneID:11085"
                     /db_xref="HGNC:HGNC:208"
                     /db_xref="MIM:604779"
                     /translation="MRSVQIFLSQCRLLLLLVPTMLLKSLGEDVIFHPEGEFDSYEVT
                     IPEKLSFRGEVQGVVSPVSYLLQLKGKKHVLHLWPKRLLLPRHLRVFSFTEHGELLED
                     HPYIPKDCNYMGSVKESLDSKATISTCMGGLRGVFNIDAKHYQIEPLKASPSFEHVVY
                     LLKKEQFGNQVCGLSDDEIEWQMAPYENKARLRDFPGSYKHPKYLELILLFDQSRYRF
                     VNNNLSQVIHDAILLTGIMDTYFQDVRMRIHLKALEVWTDFNKIRVGYPELAEVLGRF
                     VIYKKSVLNARLSSDWAHLYLQRKYNDALAWSFGKVCSLEYAGSVSTLLDTNILAPAT
                     WSAHELGHAVGMSHDEQYCQCRGRLNCIMGSGRTGFSNCSYISFFKHISSGATCLNNI
                     PGLGYVLKRCGNKIVEDNEECDCGSTEECQKDRCCQSNCKLQPGANCSIGLCCHDCRF
                     RPSGYVCRQEGNECDLAEYCDGNSSSCPNDVYKQDGTPCKYEGRCFRKGCRSRYMQCQ
                     SIFGPDAMEAPSECYDAVNLIGDQFGNCEITGIRNFKKCESANSICGRLQCINVETIP
                     DLPEHTTIISTHLQAENLMCWGTGYHLSMKPMGIPDLGMINDGTSCGEGRVCFKKNCV
                     NSSVLQFDCLPEKCNTRGVCNNRKNCHCMYGWAPPFCEEVGYGGSIDSGPPGLLRGAI
                     PSSIWVVSIIMFRLILLILSVVFVFFRQVIGNHLKPKQEKMPLSKAKTEQEESKTKTV
                     QEESKTKTGQEESEAKTGQEESKAKTGQEESKANIESKRPKAKSVKKQKK"
     regulatory      2681..2686
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ADAM30"
                     /gene_synonym="svph4"
                     /note="hexamer: AATAAA"
     polyA_site      2710
                     /gene="ADAM30"
                     /gene_synonym="svph4"
                     /note="major polyA site"
     regulatory      2965..2970
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ADAM30"
                     /gene_synonym="svph4"
                     /note="hexamer: AATAAA"
     polyA_site      2983
                     /gene="ADAM30"
                     /gene_synonym="svph4"
ORIGIN      
        1 gcgcattgcg gacgccagct agaccgagcc ctgggaggct acgggctccc ccggaaaccc
       61 tgccagggga gccgggtttt gagctcaggc gcctctagcg gcggccccca gaaatctgac
      121 tcgcgaggcc agagttgcag ggactgaata gcaaactgag gctgagtagg gaacagacca
      181 tgaggtcagt gcagatcttc ctctcccaat gccgtttgct ccttctacta gttccgacaa
      241 tgctccttaa gtctcttggc gaagatgtaa tttttcaccc tgaaggggag tttgactcgt
      301 atgaagtcac cattcctgag aagctgagct tccggggaga ggtgcagggt gtggtcagtc
      361 ccgtgtccta cctactgcag ttaaaaggca agaagcacgt cctccatttg tggcccaaga
      421 gacttctgtt gccccgacat ctgcgcgttt tctccttcac agaacatggg gaactgctgg
      481 aggatcatcc ttacatacca aaggactgca actacatggg ctccgtgaaa gagtctctgg
      541 actctaaagc tactataagc acatgcatgg ggggtctccg aggtgtattt aacattgatg
      601 ccaaacatta ccaaattgag cccctcaagg cctctcccag ttttgaacat gtcgtctatc
      661 tcctgaagaa agagcagttt gggaatcagg tttgtggctt aagtgatgat gaaatagaat
      721 ggcagatggc cccttatgag aataaggcga ggctaaggga ctttcctgga tcctataaac
      781 acccaaagta cttggaattg atcctactct ttgatcaaag taggtatagg tttgtgaaca
      841 acaatctttc tcaagtcata catgatgcca ttcttttgac tgggattatg gacacctact
      901 ttcaagatgt tcgtatgagg atacacttaa aggctcttga agtatggaca gattttaaca
      961 aaatacgcgt tggatatcca gagttagctg aagttttagg cagatttgta atatataaaa
     1021 aaagtgtatt aaatgctcgc ctgtcatcag attgggcaca tttatatctt caaagaaaat
     1081 ataatgatgc tcttgcatgg tcgtttggaa aagtgtgttc tctagaatat gctggatcag
     1141 tgagtacttt actagataca aatatccttg cccctgctac ctggtctgct catgagctgg
     1201 gtcatgctgt aggaatgtca catgatgaac aatactgcca atgtaggggt aggcttaatt
     1261 gcatcatggg ctcaggacgc actgggttta gcaattgcag ttatatctct ttttttaaac
     1321 atatctcttc gggagcaaca tgtctaaata atatcccagg actaggttat gtgcttaaga
     1381 gatgtggaaa caaaattgtg gaggacaatg aggaatgtga ctgtggttcc acagaggagt
     1441 gtcagaaaga tcggtgttgc caatcaaatt gtaagttgca accaggtgcc aactgtagca
     1501 ttggactttg ctgtcatgat tgtcggtttc gtccatctgg atacgtgtgt aggcaggaag
     1561 gaaatgaatg tgaccttgca gagtactgcg acgggaattc aagttcctgc ccaaatgacg
     1621 tttataagca ggatggaacc ccttgcaagt atgaaggccg ttgtttcagg aaggggtgca
     1681 gatccagata tatgcagtgc caaagcattt ttggacctga tgccatggag gctcctagtg
     1741 agtgctatga tgcagttaac ttaataggtg atcaatttgg taactgtgag attacaggaa
     1801 ttcgaaattt taaaaagtgt gaaagtgcaa attcaatatg tggcaggcta cagtgtataa
     1861 atgttgaaac catccctgat ttgccagagc atacgactat aatttctact catttacagg
     1921 cagaaaatct catgtgctgg ggcacaggct atcatctatc catgaaaccc atgggaatac
     1981 ctgacctagg tatgataaat gatggcacct cctgtggaga aggccgggta tgttttaaaa
     2041 aaaattgcgt caatagctca gtcctgcagt ttgactgttt gcctgagaaa tgcaataccc
     2101 ggggtgtttg caacaacaga aaaaactgcc actgcatgta tgggtgggca cctccattct
     2161 gtgaggaagt ggggtatgga ggaagcattg acagtgggcc tccaggactg ctcagagggg
     2221 cgattccctc gtcaatttgg gttgtgtcca tcataatgtt tcgccttatt ttattaatcc
     2281 tttcagtggt ttttgtgttt ttccggcaag tgataggaaa ccacttaaaa cccaaacagg
     2341 aaaaaatgcc actatccaaa gcaaaaactg aacaggaaga atctaaaaca aaaactgtac
     2401 aggaagaatc taaaacaaaa actggacagg aagaatctga agcaaaaact ggacaggaag
     2461 aatctaaagc aaaaactgga caggaagaat ctaaagcaaa cattgaaagt aaacgaccca
     2521 aagcaaagag tgtcaagaaa caaaaaaagt aaccgggcaa tccatactca ttcagtaaca
     2581 caggctcatt tatttaacca gctaatcatt tatccaaagg ctttccattc ttctcccaat
     2641 atttttttac tttaattttt cccacaagtt ttgatcagca aataaacagc attcttgttt
     2701 tggaaacaaa ccagtgcatt ctacttctcg agtgttcact tgcccctcag tttgtgacca
     2761 agttgtgggt attctgagaa tcatgctcta atggcttttc catacactaa agctctgaaa
     2821 gtagtgagtt tcctagaatt accatgctat tcaaggtata gtcttgtttc tcagaatccc
     2881 agggaacaaa gcaattgtct gcctctccct ctgcctccct caacttgatc catgtgaaca
     2941 tccgcacctg cacccatgct gatcaataaa tgccgacaac aca
//
