LOCUS       NP_620688               1095 aa            linear   PRI 27-APR-2025
DEFINITION  A disintegrin and metalloproteinase with thrombospondin motifs 17
            preproprotein [Homo sapiens].
ACCESSION   NP_620688
VERSION     NP_620688.2
DBSOURCE    REFSEQ: accession NM_139057.4
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  (residues 1 to 1095)
  AUTHORS   Guo,D., Liu,L., Yang,F., Young,C.A., Zheng,D. and Jin,G.
  TITLE     Characteristics and genotype-phenotype correlations in ADAMTS17
            mutation-related Weill-Marchesani syndrome
  JOURNAL   Exp Eye Res 234, 109606 (2023)
   PUBMED   37506754
  REMARK    GeneRIF: Characteristics and genotype-phenotype correlations in
            ADAMTS17 mutation-related Weill-Marchesani syndrome.
REFERENCE   2  (residues 1 to 1095)
  AUTHORS   Han,P., Jiang,F. and Zhang,L.
  TITLE     The role of ADAMTS6 and ADAMTS17 polymorphisms in susceptibility to
            lumbar disc herniation in Chinese Han population
  JOURNAL   Eur Spine J 32 (4), 1106-1114 (2023)
   PUBMED   36810712
  REMARK    GeneRIF: The role of ADAMTS6 and ADAMTS17 polymorphisms in
            susceptibility to lumbar disc herniation in Chinese Han population.
REFERENCE   3  (residues 1 to 1095)
  AUTHORS   Taniguchi,Y., Akune,T., Nishida,N., Omori,G., Ha,K., Ueno,K.,
            Saito,T., Oichi,T., Koike,A., Mabuchi,A., Oka,H., Muraki,S.,
            Oshima,Y., Kawaguchi,H., Nakamura,K., Tokunaga,K., Tanaka,S. and
            Yoshimura,N.
  TITLE     A common variant rs2054564 in ADAMST17 is associated with
            susceptibility to lumbar spondylosis
  JOURNAL   Sci Rep 13 (1), 4900 (2023)
   PUBMED   36966180
  REMARK    GeneRIF: A common variant rs2054564 in ADAMST17 is associated with
            susceptibility to lumbar spondylosis.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 1095)
  AUTHORS   Evans,D.R., Green,J.S., Fahiminiya,S., Majewski,J., Fernandez,B.A.,
            Deardorff,M.A., Johnson,G.J., Whelan,J.H., Hubmacher,D., Apte,S.S.
            and Woods,M.O.
  CONSRTM   Care4Rare Canada Consortium
  TITLE     A novel pathogenic missense ADAMTS17 variant that impairs secretion
            causes Weill-Marchesani Syndrome with variably dysmorphic hand
            features
  JOURNAL   Sci Rep 10 (1), 10827 (2020)
   PUBMED   32616716
  REMARK    GeneRIF: A novel pathogenic missense ADAMTS17 variant that impairs
            secretion causes Weill-Marchesani Syndrome with variably dysmorphic
            hand features.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 1095)
  AUTHORS   Karoulias,S.Z., Beyens,A., Balic,Z., Symoens,S., Vandersteen,A.,
            Rideout,A.L., Dickinson,J., Callewaert,B. and Hubmacher,D.
  TITLE     A novel ADAMTS17 variant that causes Weill-Marchesani syndrome 4
            alters fibrillin-1 and collagen type I deposition in the
            extracellular matrix
  JOURNAL   Matrix Biol 88, 1-18 (2020)
   PUBMED   31726086
  REMARK    GeneRIF: A novel ADAMTS17 variant that causes Weill-Marchesani
            syndrome 4 alters fibrillin-1 and collagen type I deposition in the
            extracellular matrix.
REFERENCE   6  (residues 1 to 1095)
  AUTHORS   Morales,J., Al-Sharif,L., Khalil,D.S., Shinwari,J.M., Bavi,P.,
            Al-Mahrouqi,R.A., Al-Rajhi,A., Alkuraya,F.S., Meyer,B.F. and Al
            Tassan,N.
  TITLE     Homozygous mutations in ADAMTS10 and ADAMTS17 cause lenticular
            myopia, ectopia lentis, glaucoma, spherophakia, and short stature
  JOURNAL   Am J Hum Genet 85 (5), 558-568 (2009)
   PUBMED   19836009
  REMARK    GeneRIF: Homozygous mutation in ADAMTS17 causes lenticular myopia,
            ectopia lentis, glaucoma, spheropakia, and short stature.
REFERENCE   7  (residues 1 to 1095)
  AUTHORS   Sovio,U., Bennett,A.J., Millwood,I.Y., Molitor,J., O'Reilly,P.F.,
            Timpson,N.J., Kaakinen,M., Laitinen,J., Haukka,J., Pillas,D.,
            Tzoulaki,I., Molitor,J., Hoggart,C., Coin,L.J., Whittaker,J.,
            Pouta,A., Hartikainen,A.L., Freimer,N.B., Widen,E., Peltonen,L.,
            Elliott,P., McCarthy,M.I. and Jarvelin,M.R.
  TITLE     Genetic determinants of height growth assessed longitudinally from
            infancy to adulthood in the northern Finland birth cohort 1966
  JOURNAL   PLoS Genet 5 (3), e1000409 (2009)
   PUBMED   19266077
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   8  (residues 1 to 1095)
  AUTHORS   Gudbjartsson,D.F., Walters,G.B., Thorleifsson,G., Stefansson,H.,
            Halldorsson,B.V., Zusmanovich,P., Sulem,P., Thorlacius,S.,
            Gylfason,A., Steinberg,S., Helgadottir,A., Ingason,A.,
            Steinthorsdottir,V., Olafsdottir,E.J., Olafsdottir,G.H.,
            Jonsson,T., Borch-Johnsen,K., Hansen,T., Andersen,G., Jorgensen,T.,
            Pedersen,O., Aben,K.K., Witjes,J.A., Swinkels,D.W., den Heijer,M.,
            Franke,B., Verbeek,A.L., Becker,D.M., Yanek,L.R., Becker,L.C.,
            Tryggvadottir,L., Rafnar,T., Gulcher,J., Kiemeney,L.A., Kong,A.,
            Thorsteinsdottir,U. and Stefansson,K.
  TITLE     Many sequence variants affecting diversity of adult human height
  JOURNAL   Nat Genet 40 (5), 609-615 (2008)
   PUBMED   18391951
REFERENCE   9  (residues 1 to 1095)
  AUTHORS   Cal,S., Obaya,A.J., Llamazares,M., Garabaya,C., Quesada,V. and
            Lopez-Otin,C.
  TITLE     Cloning, expression analysis, and structural characterization of
            seven novel human ADAMTSs, a family of metalloproteinases with
            disintegrin and thrombospondin-1 domains
  JOURNAL   Gene 283 (1-2), 49-62 (2002)
   PUBMED   11867212
REFERENCE   10 (residues 1 to 1095)
  AUTHORS   Marzin,P., Cormier-Daire,V. and Tsilou,E.
  TITLE     Weill-Marchesani Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301293
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB279404.1, AJ315735.1,
            AC113187.6 and AC084855.4.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jul 20, 2006 this sequence version replaced NP_620688.1.
            
            Summary: This gene encodes a member of the ADAMTS (a disintegrin
            and metalloproteinase with thrombospondin motifs) protein family.
            ADAMTS family members share several distinct protein modules,
            including a propeptide region, a metalloproteinase domain, a
            disintegrin-like domain, and a thrombospondin type 1 (TS) motif.
            Individual members of this family differ in the number of
            C-terminal TS motifs, and some have unique C-terminal domains. The
            encoded preproprotein is proteolytically processed to generate the
            mature protein, which may promote breast cancer cell growth and
            survival. Mutations in this gene are associated with a
            Weill-Marchesani-like syndrome, which is characterized by
            lenticular myopia, ectopia lentis, glaucoma, spherophakia, and
            short stature. [provided by RefSeq, May 2016].
            
            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 :: AJ315735.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000268070.9/ ENSP00000268070.4
            RefSeq Select criteria :: based on conservation
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..1095
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q26.3"
     Protein         1..1095
                     /product="A disintegrin and metalloproteinase with
                     thrombospondin motifs 17 preproprotein"
                     /note="a disintegrin-like and metalloprotease (reprolysin
                     type) with thrombospondin type 1 motif, 17; a disintegrin
                     and metalloproteinase with thrombospondin motifs 17"
                     /calculated_mol_wt=118202
     sig_peptide     1..29
                     /inference="COORDINATES: ab initio prediction:SignalP:6.0"
                     /calculated_mol_wt=2944
     Region          50..76
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TE56.2)"
     Region          <81..180
                     /region_name="Pep_M12B_propep"
                     /note="Reprolysin family propeptide; pfam01562"
                     /db_xref="CDD:460254"
     Site            167
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8TE56.2)"
     Region          199..206
                     /region_name="Cysteine switch. /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TE56.2)"
     mat_peptide     224..1095
                     /product="A disintegrin and metalloproteinase with
                     thrombospondin motifs 17. /id=PRO_0000029199"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TE56.2)"
                     /calculated_mol_wt=96524
     Region          232..449
                     /region_name="ZnMc_ADAMTS_like"
                     /note="Zinc-dependent metalloprotease, ADAMTS_like
                     subgroup. ADAMs (A Disintegrin And Metalloprotease) are
                     glycoproteins, which play roles in cell signaling, cell
                     fusion, and cell-cell interactions. This particular
                     subfamily represents domain architectures that...;
                     cd04273"
                     /db_xref="CDD:239801"
     Site            order(389..390,393,399)
                     /site_type="active"
                     /db_xref="CDD:239801"
     Region          466..533
                     /region_name="ADAMTS_CR_2"
                     /note="ADAMTS cysteine-rich domain 2; pfam17771"
                     /db_xref="CDD:465496"
     Site            483
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8TE56.2)"
     Region          546..598
                     /region_name="TSP1"
                     /note="Thrombospondin type 1 repeats; smart00209"
                     /db_xref="CDD:214559"
     Region          <630..699
                     /region_name="ADAMTS_CR_3"
                     /note="ADAMTS cysteine-rich domain; pfam19236"
                     /db_xref="CDD:437068"
     Region          702..779
                     /region_name="Spacer"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8TE56.2)"
     Region          <713..783
                     /region_name="ADAMTS_spacer1"
                     /note="ADAM-TS Spacer 1; pfam05986"
                     /db_xref="CDD:461796"
     Site            785
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8TE56.2)"
     Site            790
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8TE56.2)"
     Region          809..861
                     /region_name="TSP1_ADAMTS"
                     /note="Thrombospondin type 1 domain; pfam19030"
                     /db_xref="CDD:465950"
     Site            832
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8TE56.2)"
     Site            839
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8TE56.2)"
     Region          865..921
                     /region_name="TSP1_ADAMTS"
                     /note="Thrombospondin type 1 domain; pfam19030"
                     /db_xref="CDD:465950"
     Site            894
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q8TE56.2)"
     Region          925..967
                     /region_name="TSP1_ADAMTS"
                     /note="Thrombospondin type 1 domain; pfam19030"
                     /db_xref="CDD:465950"
     Region          976..1023
                     /region_name="TSP1_ADAMTS"
                     /note="Thrombospondin type 1 domain; pfam19030"
                     /db_xref="CDD:465950"
     CDS             1..1095
                     /gene="ADAMTS17"
                     /gene_synonym="WMS4"
                     /coded_by="NM_139057.4:77..3364"
                     /db_xref="CCDS:CCDS10383.1"
                     /db_xref="GeneID:170691"
                     /db_xref="HGNC:HGNC:17109"
                     /db_xref="MIM:607511"
ORIGIN      
        1 mcdgallppl vlpvllllvw gldpgtavgd aaadvevvlp wrvrpddvhl pplpaapgpr
       61 rrrrprtppa aprarpgera lllhlpafgr dlylqlrrdl rflsrgfeve eagaarrrgr
      121 paelcfysgr vlghpgslvs lsacgaaggl vgliqlgqeq vliqplnnsq gpfsgrehli
      181 rrkwsltpsp saeaqrpeql ckvltekkkp twgrpsrdwr errnairlts ehtvetlvva
      241 dadmvqyhga eaaqrfiltv mnmvynmfqh qslgikiniq vtklvllrqr paklsighhg
      301 erslesfchw qneeyggary lgnnqvpggk ddpplvdaav fvtrtdfcvh kdepcdtvgi
      361 aylggvcsak rkcvlaedng lnlaftiahe lghnlgmnhd ddhsscagrs himsgewvkg
      421 rnpsdlswss csrddlenfl kskvstcllv tdprsqhtvr lphklpgmhy saneqcqilf
      481 gmnatfcrnm ehlmcaglwc lvegdtsckt kldppldgte cgadkwcrag ecvsktpipe
      541 hvdgdwspwg awsmcsrtcg tgarfrqrkc dnpppgpggt hcpgasveha vcenlpcpkg
      601 lpsfrdqqcq ahdrlspkkk glltavvvdd kpcelycspl gkespllvad rvldgtpcgp
      661 yetdlcvhgk cqkigcdgii gsaakedrcg vcsgdgktch lvkgdfshar gtalkdsgkg
      721 sinsdwkiel pgefqiagtt vryvrrglwe kisakgptkl plhlmvllfh dqdygihyey
      781 tvpvnrtaen qsepekpqds lfiwthsgwe gcsvqcggge rrtivsctri vnktttlvnd
      841 sdcpqasrpe pqvrrcnlhp cqsrwvagpw spcsatcekg fqhrevtcvy qlqngthvat
      901 rplycpgprp aavqscegqd clsiweasew sqcsascgkg vwkrtvactn sqgkcdastr
      961 praeeacedy sgcyewktgd wstcsstcgk glqsrvvqcm hkvtgrhgse cpalskpapy
     1021 rqcyqevcnd rinantitsp rlaaltykct rdqwtvycrv ireknlcqdm rwyqrccqtc
     1081 rdfyankmrq pppns
//
