LOCUS       NM_017680               2467 bp    mRNA    linear   PRI 27-NOV-2023
DEFINITION  Homo sapiens asporin (ASPN), transcript variant 1, mRNA.
ACCESSION   NM_017680
VERSION     NM_017680.6
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 2467)
  AUTHORS   Gur B, Afacan B, Cevik O, Kose T and Emingil G.
  TITLE     Gingival crevicular fluid periodontal ligament-associated
            protein-1, sclerostin, and tumor necrosis factor-alpha levels in
            periodontitis
  JOURNAL   J Periodontol 94 (10), 1166-1175 (2023)
   PUBMED   37006132
  REMARK    GeneRIF: Gingival crevicular fluid periodontal ligament-associated
            protein-1, sclerostin, and tumor necrosis factor-alpha levels in
            periodontitis.
REFERENCE   2  (bases 1 to 2467)
  AUTHORS   Chen JC, Shih HC, Lin CY, Guo JH, Huang C, Huang HC, Chong ZY and
            Tang CH.
  TITLE     MicroRNA-631 Resensitizes Doxorubicin-Resistant Chondrosarcoma
            Cells by Targeting Apelin
  JOURNAL   Int J Mol Sci 24 (1), 839 (2023)
   PUBMED   36614283
  REMARK    GeneRIF: MicroRNA-631 Resensitizes Doxorubicin-Resistant
            Chondrosarcoma Cells by Targeting Apelin.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2467)
  AUTHORS   Song YQ, Cheung KM, Ho DW, Poon SC, Chiba K, Kawaguchi Y, Hirose Y,
            Alini M, Grad S, Yee AF, Leong JC, Luk KD, Yip SP, Karppinen J,
            Cheah KS, Sham P, Ikegawa S and Chan D.
  TITLE     Association of the asporin D14 allele with lumbar-disc degeneration
            in Asians
  JOURNAL   Am J Hum Genet 82 (3), 744-747 (2008)
   PUBMED   18304494
  REMARK    GeneRIF: ASPN is a lumbar-disc degeneration (LDD) gene in Asians,
            and common risk factors may be considered for osteoarthritis and
            LDD.
            GeneRIF: Observational study and meta-analysis of gene-disease
            association. (HuGE Navigator)
REFERENCE   4  (bases 1 to 2467)
  AUTHORS   Kou I, Nakajima M and Ikegawa S.
  TITLE     Expression and regulation of the osteoarthritis-associated protein
            asporin
  JOURNAL   J Biol Chem 282 (44), 32193-32199 (2007)
   PUBMED   17804408
  REMARK    GeneRIF: Characterization of the human ASPN promoter region
            revealed a region from -126 to -82 that is sufficient for full
            promoter activity; however, TGF-beta1 failed to increase activity
            through the ASPN promoter.
REFERENCE   5  (bases 1 to 2467)
  AUTHORS   Nakamura T, Shi D, Tzetis M, Rodriguez-Lopez J, Miyamoto Y, Tsezou
            A, Gonzalez A, Jiang Q, Kamatani N, Loughlin J and Ikegawa S.
  TITLE     Meta-analysis of association between the ASPN D-repeat and
            osteoarthritis
  JOURNAL   Hum Mol Genet 16 (14), 1676-1681 (2007)
   PUBMED   17517696
  REMARK    GeneRIF: the association of the ASPN D14 allele and knee OA has
            global relevance [meta-analysis]
            GeneRIF: Meta-analysis of gene-disease association. (HuGE
            Navigator)
REFERENCE   6  (bases 1 to 2467)
  AUTHORS   Shi D, Nakamura T, Dai J, Yi L, Qin J, Chen D, Xu Z, Wang Y,
            Ikegawa S and Jiang Q.
  TITLE     Association of the aspartic acid-repeat polymorphism in the asporin
            gene with age at onset of knee osteoarthritis in Han Chinese
            population
  JOURNAL   J Hum Genet 52 (8), 664-667 (2007)
   PUBMED   17603749
  REMARK    GeneRIF: This study further highlighted the significance of asporin
            in osteoarthritis.
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (bases 1 to 2467)
  AUTHORS   Kizawa H, Kou I, Iida A, Sudo A, Miyamoto Y, Fukuda A, Mabuchi A,
            Kotani A, Kawakami A, Yamamoto S, Uchida A, Nakamura K, Notoya K,
            Nakamura Y and Ikegawa S.
  TITLE     An aspartic acid repeat polymorphism in asporin inhibits
            chondrogenesis and increases susceptibility to osteoarthritis
  JOURNAL   Nat Genet 37 (2), 138-144 (2005)
   PUBMED   15640800
  REMARK    GeneRIF: these findings provide another functional link between
            extracellular matrix proteins, TGF-beta activity and disease,
            suggesting new therapeutic strategies for osteoarthritis.
REFERENCE   8  (bases 1 to 2467)
  AUTHORS   Yamada S, Murakami S, Matoba R, Ozawa Y, Yokokoji T, Nakahira Y,
            Ikezawa K, Takayama S, Matsubara K and Okada H.
  TITLE     Expression profile of active genes in human periodontal ligament
            and isolation of PLAP-1, a novel SLRP family gene
  JOURNAL   Gene 275 (2), 279-286 (2001)
   PUBMED   11587855
REFERENCE   9  (bases 1 to 2467)
  AUTHORS   Henry SP, Takanosu M, Boyd TC, Mayne PM, Eberspaecher H, Zhou W, de
            Crombrugghe B, Hook M and Mayne R.
  TITLE     Expression pattern and gene characterization of asporin. a newly
            discovered member of the leucine-rich repeat protein family
  JOURNAL   J Biol Chem 276 (15), 12212-12221 (2001)
   PUBMED   11152695
REFERENCE   10 (bases 1 to 2467)
  AUTHORS   Lorenzo P, Aspberg A, Onnerfjord P, Bayliss MT, Neame PJ and
            Heinegard D.
  TITLE     Identification and characterization of asporin. a novel member of
            the leucine-rich repeat protein family closely related to decorin
            and biglycan
  JOURNAL   J Biol Chem 276 (15), 12201-12211 (2001)
   PUBMED   11152692
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from NTIA01000042.1.
            
            On Apr 27, 2022 this sequence version replaced NM_017680.5.
            
            Summary: This gene encodes a cartilage extracellular protein that
            is member of the small leucine-rich proteoglycan family. The
            encoded protein may regulate chondrogenesis by inhibiting
            transforming growth factor-beta 1-induced gene expression in
            cartilage. This protein also binds collagen and calcium and may
            induce collagen mineralization. Polymorphisms in the aspartic acid
            repeat region of this gene are associated with a susceptibility to
            osteoarthritis, and also with intervertebral disc disease.
            Alternative splicing of this gene results in multiple transcript
            variants.[provided by RefSeq, Jul 2014].
            
            Transcript Variant: This variant (1), which represents the D13
            allele, is the longer transcript and encodes the longer isoform
            (1).
            
            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 :: BC063114.1, AY029191.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2467147 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000710274.1/ ENSP00000518167.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-214               NTIA01000042.1     1850360-1850573
            215-515             NTIA01000042.1     1857939-1858239
            516-628             NTIA01000042.1     1862082-1862194
            629-842             NTIA01000042.1     1866292-1866505
            843-953             NTIA01000042.1     1867834-1867944
            954-1047            NTIA01000042.1     1872296-1872389
            1048-1186           NTIA01000042.1     1873094-1873232
            1187-2467           NTIA01000042.1     1875379-1876659
FEATURES             Location/Qualifiers
     source          1..2467
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q22.31"
     gene            1..2467
                     /gene="ASPN"
                     /gene_synonym="OS3; PLAP-1; PLAP1; SLRR1C"
                     /note="asporin"
                     /db_xref="GeneID:54829"
                     /db_xref="HGNC:HGNC:14872"
                     /db_xref="MIM:608135"
     exon            1..214
                     /gene="ASPN"
                     /gene_synonym="OS3; PLAP-1; PLAP1; SLRR1C"
                     /inference="alignment:Splign:2.1.0"
     exon            215..515
                     /gene="ASPN"
                     /gene_synonym="OS3; PLAP-1; PLAP1; SLRR1C"
                     /inference="alignment:Splign:2.1.0"
     CDS             245..1384
                     /gene="ASPN"
                     /gene_synonym="OS3; PLAP-1; PLAP1; SLRR1C"
                     /note="isoform 1 preproprotein is encoded by transcript
                     variant 1; periodontal ligament associated protein 1;
                     small leucine-rich protein 1C; asporin (LRR class 1);
                     asporin proteoglycan"
                     /codon_start=1
                     /product="asporin isoform 1 preproprotein"
                     /protein_id="NP_060150.4"
                     /db_xref="GeneID:54829"
                     /db_xref="HGNC:HGNC:14872"
                     /db_xref="MIM:608135"
                     /translation="MKEYVLLLFLALCSAKPFFSPSHIALKNMMLKDMEDTDDDDDDD
                     DDDDDDEDNSLFPTREPRSHFFPFDLFPMCPFGCQCYSRVVHCSDLGLTSVPTNIPFD
                     TRMLDLQNNKIKEIKENDFKGLTSLYGLILNNNKLTKIHPKAFLTTKKLRRLYLSHNQ
                     LSEIPLNLPKSLAELRIHENKVKKIQKDTFKGMNALHVLEMSANPLDNNGIEPGAFEG
                     VTVFHIRIAEAKLTSVPKGLPPTLLELHLDYNKISTVELEDFKRYKELQRLGLGNNKI
                     TDIENGSLANIPRVREIHLENNKLKKIPSGLPELKYLQIIFLHSNSIARVGVNDFCPT
                     VPKMKKSLYSAISLFNNPVKYWEMQPATFRCVLSRMSVQLGNFGM"
     exon            516..628
                     /gene="ASPN"
                     /gene_synonym="OS3; PLAP-1; PLAP1; SLRR1C"
                     /inference="alignment:Splign:2.1.0"
     exon            629..842
                     /gene="ASPN"
                     /gene_synonym="OS3; PLAP-1; PLAP1; SLRR1C"
                     /inference="alignment:Splign:2.1.0"
     exon            843..953
                     /gene="ASPN"
                     /gene_synonym="OS3; PLAP-1; PLAP1; SLRR1C"
                     /inference="alignment:Splign:2.1.0"
     exon            954..1047
                     /gene="ASPN"
                     /gene_synonym="OS3; PLAP-1; PLAP1; SLRR1C"
                     /inference="alignment:Splign:2.1.0"
     exon            1048..1186
                     /gene="ASPN"
                     /gene_synonym="OS3; PLAP-1; PLAP1; SLRR1C"
                     /inference="alignment:Splign:2.1.0"
     exon            1187..2467
                     /gene="ASPN"
                     /gene_synonym="OS3; PLAP-1; PLAP1; SLRR1C"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2442..2447
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ASPN"
                     /gene_synonym="OS3; PLAP-1; PLAP1; SLRR1C"
                     /note="hexamer: ATTAAA"
     polyA_site      2467
                     /gene="ASPN"
                     /gene_synonym="OS3; PLAP-1; PLAP1; SLRR1C"
                     /note="major polyA site"
ORIGIN      
        1 agtactaaca tggactaatc tgtgggagca gtttattcca gtatcaccca gggtgcagcc
       61 acaccaggac tgtgttgaag ggtgtttttt ttcttttaaa tgtaatacct cctcatcttt
      121 tcttcttaca cagtgtctga gaacatttac attatagata agtagtacat ggtggataac
      181 ttctactttt aggaggacta ctctcttctg acagtcctag actggtcttc tacactaaga
      241 caccatgaag gagtatgtgc tcctattatt cctggctttg tgctctgcca aacccttctt
      301 tagcccttca cacatcgcac tgaagaatat gatgctgaag gatatggaag acacagatga
      361 tgatgatgat gatgatgatg atgatgatga tgatgaggac aactctcttt ttccaacaag
      421 agagccaaga agccattttt ttccatttga tctgtttcca atgtgtccat ttggatgtca
      481 gtgctattca cgagttgtac attgctcaga tttaggtttg acctcagtcc caaccaacat
      541 tccatttgat actcgaatgc ttgatcttca aaacaataaa attaaggaaa tcaaagaaaa
      601 tgattttaaa ggactcactt cactttatgg tctgatcctg aacaacaaca agctaacgaa
      661 gattcaccca aaagcctttc taaccacaaa gaagttgcga aggctgtatc tgtcccacaa
      721 tcaactaagt gaaataccac ttaatcttcc caaatcatta gcagaactca gaattcatga
      781 aaataaagtt aagaaaatac aaaaggacac attcaaagga atgaatgctt tacacgtttt
      841 ggaaatgagt gcaaaccctc ttgataataa tgggatagag ccaggggcat ttgaaggggt
      901 gacggtgttc catatcagaa ttgcagaagc aaaactgacc tcagttccta aaggcttacc
      961 accaacttta ttggagcttc acttagatta taataaaatt tcaacagtgg aacttgagga
     1021 ttttaaacga tacaaagaac tacaaaggct gggcctagga aacaacaaaa tcacagatat
     1081 cgaaaatggg agtcttgcta acataccacg tgtgagagaa atacatttgg aaaacaataa
     1141 actaaaaaaa atcccttcag gattaccaga gttgaaatac ctccagataa tcttccttca
     1201 ttctaattca attgcaagag tgggagtaaa tgacttctgt ccaacagtgc caaagatgaa
     1261 gaaatcttta tacagtgcaa taagtttatt caacaacccg gtgaaatact gggaaatgca
     1321 acctgcaaca tttcgttgtg ttttgagcag aatgagtgtt cagcttggga actttggaat
     1381 gtaataatta gtaattggta atgtccattt aatataagat tcaaaaatcc ctacatttgg
     1441 aatacttgaa ctctattaat aatggtagta ttatatatac aagcaaatat ctattctcaa
     1501 gtggtaagtc cactgactta ttttatgaca agaaatttca acggaatttt gccaaactat
     1561 tgatacataa gggttgagag aaacaagcat ctattgcagt ttctttttgc gtacaaatga
     1621 tcttacataa atctcatgct tgaccattcc tttcttcata acaaaaaagt aagatattcg
     1681 gtatttaaca ctttgttatc aagcacattt taaaaagaac tgtactgtaa atggaatgct
     1741 tgacttagca aaatttgtgc tctttcattt gctgttagaa aaacagaatt aacaaagaca
     1801 gtaatgtgaa gagtgcatta cactattctt attctttagt aacttgggta gtactgtaat
     1861 atttttaatc atcttaaagt atgatttgat ataatcttat tgaaattacc ttatcatgtc
     1921 ttagagcccg tctttatgtt taaaactaat ttcttaaaat aaagccttca gtaaatgttc
     1981 attaccaact tgataaatgc tactcataag agctggtttg gggctatagc atatgctttt
     2041 ttttttttaa ttattacctg atttaaaaat ctctgtaaaa acgtgtagtg tttcataaaa
     2101 tctgtaactc gcattttaat gatccgctat tataagcttt taatagcatg aaaattgtta
     2161 ggctatataa cattgccact tcaactctaa ggaatatttt tgagatatcc ctttggaaga
     2221 ccttgcttgg aagagcctgg acactaacaa ttctacacca aattgtctct tcaaatacgt
     2281 atggactgga taactctgag aaacacatct agtataactg aataagcaga gcatcaaatt
     2341 aaacagacag aaaccgaaag ctctatataa atgctcagag ttctttatgt atttcttatt
     2401 ggcattcaac atatgtaaaa tcagaaaaca gggaaatttt cattaaaaat attggtttga
     2461 aataaaa
//
