LOCUS       NM_000493               3302 bp    mRNA    linear   PRI 29-OCT-2024
DEFINITION  Homo sapiens collagen type X alpha 1 chain (COL10A1), transcript
            variant 1, mRNA.
ACCESSION   NM_000493
VERSION     NM_000493.4
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 3302)
  AUTHORS   Yi,Q., Zhu,G., Zhu,W., Wang,J., Ouyang,X., Yang,K. and Zhong,J.
  TITLE     Oncogenic mechanisms of COL10A1 in cancer and clinical challenges
            (Review)
  JOURNAL   Oncol Rep 52 (6) (2024)
   PUBMED   39392043
  REMARK    GeneRIF: Oncogenic mechanisms of COL10A1 in cancer and clinical
            challenges (Review).
            Review article
REFERENCE   2  (bases 1 to 3302)
  AUTHORS   Meng,Z., Zhang,R., Wu,X., Piao,Z., Zhang,M. and Jin,T.
  TITLE     LncRNA HAGLROS promotes breast cancer evolution through
            miR-135b-3p/COL10A1 axis and exosome-mediated macrophage M2
            polarization
  JOURNAL   Cell Death Dis 15 (8), 633 (2024)
   PUBMED   39198393
  REMARK    GeneRIF: LncRNA HAGLROS promotes breast cancer evolution through
            miR-135b-3p/COL10A1 axis and exosome-mediated macrophage M2
            polarization.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3302)
  AUTHORS   Wu,J., Ouyang,P., Huang,R., Cui,Y., Yang,Z., Xu,W., Ma,R.,
            Xiang,G., Zeng,W., Wu,W. and Li,J.
  TITLE     METTL16 Promotes Stability of SYNPO2L mRNA and leading to Cancer
            Cell Lung Metastasis by Secretion of COL10A1 and attract the
            Cancer-Associated Fibroblasts
  JOURNAL   Int J Biol Sci 20 (11), 4128-4145 (2024)
   PUBMED   39247832
  REMARK    GeneRIF: METTL16 Promotes Stability of SYNPO2L mRNA and leading to
            Cancer Cell Lung Metastasis by Secretion of COL10A1 and attract the
            Cancer-Associated Fibroblasts.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3302)
  AUTHORS   Peng,J., Liu,X., Mao,Y., Lv,M., Ma,T., Liu,J., Zhou,Q., Han,Y.,
            Li,X. and Wang,H.
  TITLE     Upregulation of collagen type X alpha 1 promotes the progress of
            triple-negative breast cancer via Wnt/beta-catenin signaling
  JOURNAL   Mol Carcinog 63 (8), 1588-1598 (2024)
   PUBMED   38780151
  REMARK    GeneRIF: Upregulation of collagen type X alpha 1 promotes the
            progress of triple-negative breast cancer via Wnt/beta-catenin
            signaling.
REFERENCE   5  (bases 1 to 3302)
  AUTHORS   Xu,S., Liu,D., Qin,Z., Liang,Z., Xie,H., Yi,B., Wang,K., Lin,G.,
            Liu,R., Yang,K., Xu,Y. and Zhang,H.
  TITLE     Experimental validation and pan-cancer analysis identified COL10A1
            as a novel oncogene and potential therapeutic target in prostate
            cancer
  JOURNAL   Aging (Albany NY) 15 (24), 15134-15160 (2023)
   PUBMED   38147021
  REMARK    GeneRIF: Experimental validation and pan-cancer analysis identified
            COL10A1 as a novel oncogene and potential therapeutic target in
            prostate cancer.
REFERENCE   6  (bases 1 to 3302)
  AUTHORS   Richmond,C.M. and Savarirayan,R.
  TITLE     Schmid Metaphyseal Chondrodysplasia
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   31633898
REFERENCE   7  (bases 1 to 3302)
  AUTHORS   Reichenberger,E., Beier,F., LuValle,P., Olsen,B.R., von der Mark,K.
            and Bertling,W.M.
  TITLE     Genomic organization and full-length cDNA sequence of human
            collagen X
  JOURNAL   FEBS Lett 311 (3), 305-310 (1992)
   PUBMED   1397333
REFERENCE   8  (bases 1 to 3302)
  AUTHORS   Kirsch,T. and Pfaffle,M.
  TITLE     Selective binding of anchorin CII (annexin V) to type II and X
            collagen and to chondrocalcin (C-propeptide of type II collagen).
            Implications for anchoring function between matrix vesicles and
            matrix proteins
  JOURNAL   FEBS Lett 310 (2), 143-147 (1992)
   PUBMED   1397263
REFERENCE   9  (bases 1 to 3302)
  AUTHORS   Apte,S.S., Seldin,M.F., Hayashi,M. and Olsen,B.R.
  TITLE     Cloning of the human and mouse type X collagen genes and mapping of
            the mouse type X collagen gene to chromosome 10
  JOURNAL   Eur J Biochem 206 (1), 217-224 (1992)
   PUBMED   1587271
REFERENCE   10 (bases 1 to 3302)
  AUTHORS   Reichenberger,E., Aigner,T., von der Mark,K., Stoss,H. and
            Bertling,W.
  TITLE     In situ hybridization studies on the expression of type X collagen
            in fetal human cartilage
  JOURNAL   Dev Biol 148 (2), 562-572 (1991)
   PUBMED   1743401
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL121963.10, BI521533.1 and
            CA447328.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_000493.3.
            
            Summary: This gene encodes the alpha chain of type X collagen, a
            short chain collagen expressed by hypertrophic chondrocytes during
            endochondral ossification. Unlike type VIII collagen, the other
            short chain collagen, type X collagen is a homotrimer. Mutations in
            this gene are associated with Schmid type metaphyseal
            chondrodysplasia (SMCD) and Japanese type spondylometaphyseal
            dysplasia (SMD). [provided by RefSeq, Jul 2008].
            
            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 :: BC130621.1, BI521533.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2155751 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000651968.1/ ENSP00000498802.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-73                AL121963.10        40283-40355
            74-173              BI521533.1         63-162
            174-198             AL121963.10        41001-41025
            199-377             BI521533.1         190-368
            378-2575            AL121963.10        44582-46779
            2576-3289           CA447328.1         18-731              c
            3290-3302           AL121963.10        47494-47506
FEATURES             Location/Qualifiers
     source          1..3302
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q22.1"
     gene            1..3302
                     /gene="COL10A1"
                     /note="collagen type X alpha 1 chain"
                     /db_xref="GeneID:1300"
                     /db_xref="HGNC:HGNC:2185"
                     /db_xref="MIM:120110"
     exon            1..80
                     /gene="COL10A1"
                     /inference="alignment:Splign:2.1.0"
     exon            81..249
                     /gene="COL10A1"
                     /inference="alignment:Splign:2.1.0"
     CDS             96..2138
                     /gene="COL10A1"
                     /note="Schmid metaphyseal chondrodysplasia; collagen X,
                     alpha-1 polypeptide; collagen alpha-1(X) chain; collagen,
                     type X, alpha 1"
                     /codon_start=1
                     /product="collagen alpha-1(X) chain precursor"
                     /protein_id="NP_000484.2"
                     /db_xref="CCDS:CCDS5105.1"
                     /db_xref="GeneID:1300"
                     /db_xref="HGNC:HGNC:2185"
                     /db_xref="MIM:120110"
                     /translation="MLPQIPFLLLVSLNLVHGVFYAERYQMPTGIKGPLPNTKTQFFI
                     PYTIKSKGIAVRGEQGTPGPPGPAGPRGHPGPSGPPGKPGYGSPGLQGEPGLPGPPGP
                     SAVGKPGVPGLPGKPGERGPYGPKGDVGPAGLPGPRGPPGPPGIPGPAGISVPGKPGQ
                     QGPTGAPGPRGFPGEKGAPGVPGMNGQKGEMGYGAPGRPGERGLPGPQGPTGPSGPPG
                     VGKRGENGVPGQPGIKGDRGFPGEMGPIGPPGPQGPPGERGPEGIGKPGAAGAPGQPG
                     IPGTKGLPGAPGIAGPPGPPGFGKPGLPGLKGERGPAGLPGGPGAKGEQGPAGLPGKP
                     GLTGPPGNMGPQGPKGIPGSHGLPGPKGETGPAGPAGYPGAKGERGSPGSDGKPGYPG
                     KPGLDGPKGNPGLPGPKGDPGVGGPPGLPGPVGPAGAKGMPGHNGEAGPRGAPGIPGT
                     RGPIGPPGIPGFPGSKGDPGSPGPPGPAGIATKGLNGPTGPPGPPGPRGHSGEPGLPG
                     PPGPPGPPGQAVMPEGFIKAGQRPSLSGTPLVSANQGVTGMPVSAFTVILSKAYPAIG
                     TPIPFDKILYNRQQHYDPRTGIFTCQIPGIYYFSYHVHVKGTHVWVGLYKNGTPVMYT
                     YDEYTKGYLDQASGSAIIDLTENDQVWLQLPNAESNGLYSSEYVHSSFSGFLVAPM"
     exon            250..3302
                     /gene="COL10A1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3166..3171
                     /regulatory_class="polyA_signal_sequence"
                     /gene="COL10A1"
                     /note="hexamer: AATAAA"
     polyA_site      3185
                     /gene="COL10A1"
                     /note="major polyA site"
     regulatory      3264..3269
                     /regulatory_class="polyA_signal_sequence"
                     /gene="COL10A1"
                     /note="hexamer: AATAAA"
     regulatory      3280..3285
                     /regulatory_class="polyA_signal_sequence"
                     /gene="COL10A1"
                     /note="hexamer: AATAAA"
     polyA_site      3285
                     /gene="COL10A1"
                     /note="major polyA site"
     polyA_site      3302
                     /gene="COL10A1"
                     /note="major polyA site"
ORIGIN      
        1 accttctgca ctgctcatct gggcagagga agcttcagaa agctgccaag gcaccatctc
       61 caggaactcc cagcacgcag aatccatctg agaatatgct gccacaaata ccctttttgc
      121 tgctagtatc cttgaacttg gttcatggag tgttttacgc tgaacgatac caaatgccca
      181 caggcataaa aggcccacta cccaacacca agacacagtt cttcattccc tacaccataa
      241 agagtaaagg tatagcagta agaggagagc aaggtactcc tggtccacca ggccctgctg
      301 gacctcgagg gcacccaggt ccttctggac caccaggaaa accaggctac ggaagtcctg
      361 gactccaagg agagccaggg ttgccaggac caccgggacc atcagctgta gggaaaccag
      421 gtgtgccagg actcccagga aaaccaggag agagaggacc atatggacca aaaggagatg
      481 ttggaccagc tggcctacca ggaccccggg gcccaccagg accacctgga atccctggac
      541 cggctggaat ttctgtgcca ggaaaacctg gacaacaggg acccacagga gccccaggac
      601 ccaggggctt tcctggagaa aagggtgcac caggagtccc tggtatgaat ggacagaaag
      661 gggaaatggg atatggtgct cctggtcgtc caggtgagag gggtcttcca ggccctcagg
      721 gtcccacagg accatctggc cctcctggag tgggaaaaag aggtgaaaat ggggttccag
      781 gacagccagg catcaaaggt gatagaggtt ttccgggaga aatgggacca attggcccac
      841 caggtcccca aggccctcct ggggaacgag ggccagaagg cattggaaag ccaggagctg
      901 ctggagcccc aggccagcca gggattccag gaacaaaagg tctccctggg gctccaggaa
      961 tagctgggcc cccagggcct cctggctttg ggaaaccagg cttgccaggc ctgaagggag
     1021 aaagaggacc tgctggcctt cctgggggtc caggtgccaa aggggaacaa gggccagcag
     1081 gtcttcctgg gaagccaggt ctgactggac cccctgggaa tatgggaccc caaggaccaa
     1141 aaggcatccc gggtagccat ggtctcccag gccctaaagg tgagacaggg ccagctgggc
     1201 ctgcaggata ccctggggct aagggtgaaa ggggttcccc tgggtcagat ggaaaaccag
     1261 ggtacccagg aaaaccaggt ctcgatggtc ctaagggtaa cccagggtta ccaggtccaa
     1321 aaggtgatcc tggagttgga ggacctcctg gtctcccagg ccctgtgggc ccagcaggag
     1381 caaagggaat gcccggacac aatggagagg ctggcccaag aggtgcccct ggaataccag
     1441 gtactagagg ccctattggg ccaccaggca ttccaggatt ccctgggtct aaaggggatc
     1501 caggaagtcc cggtcctcct ggcccagctg gcatagcaac taagggcctc aatggaccca
     1561 ccgggccacc agggcctcca ggtccaagag gccactctgg agagcctggt cttccagggc
     1621 cccctgggcc tccaggccca ccaggtcaag cagtcatgcc tgagggtttt ataaaggcag
     1681 gccaaaggcc cagtctttct gggacccctc ttgttagtgc caaccagggg gtaacaggaa
     1741 tgcctgtgtc tgcttttact gttattctct ccaaagctta cccagcaata ggaactccca
     1801 taccatttga taaaattttg tataacaggc aacagcatta tgacccaagg actggaatct
     1861 ttacttgtca gataccagga atatactatt tttcatacca cgtgcatgtg aaagggactc
     1921 atgtttgggt aggcctgtat aagaatggca cccctgtaat gtacacctat gatgaataca
     1981 ccaaaggcta cctggatcag gcttcaggga gtgccatcat cgatctcaca gaaaatgacc
     2041 aggtgtggct ccagcttccc aatgccgagt caaatggcct atactcctct gagtatgtcc
     2101 actcctcttt ctcaggattc ctagtggctc caatgtgagt acacacagag ctaatctaaa
     2161 tcttgtgcta gaaaaagcat tctctaactc taccccaccc tacaaaatgc atatggaggt
     2221 aggctgaaaa gaatgtaatt tttattttct gaaatacaga tttgagctat cagaccaaca
     2281 aaccttcccc ctgaaaagtg agcagcaacg taaaaacgta tgtgaagcct ctcttgaatt
     2341 tctagttagc aatcttaagg ctctttaagg ttttctccaa tattaaaaaa tatcaccaaa
     2401 gaagtcctgc tatgttaaaa acaaacaaca aaaaacaaac aacaaaaaaa aaattaaaaa
     2461 aaaaaacaga aatagagctc taagttatgt gaaatttgat ttgagaaact cggcatttcc
     2521 tttttaaaaa agcctgtttc taactatgaa tatgagaact tctaggaaac atccaggagg
     2581 tatcatataa ctttgtagaa cttaaatact tgaatattca aatttaaaag acactgtatc
     2641 ccctaaaata tttctgatgg tgcactactc tgaggcctgt atggcccctt tcatcaatat
     2701 ctattcaaat atacaggtgc atatatactt gttaaagctc ttatataaaa aagccccaaa
     2761 atattgaagt tcatctgaaa tgcaaggtgc tttcatcaat gaaccttttc aaacttttct
     2821 atgattgcag agaagctttt tatataccca gcataacttg gaaacaggta tctgacctat
     2881 tcttatttag ttaacacaag tgtgattaat ttgatttctt taattcctta ttgaatctta
     2941 tgtgatatga ttttctggat ttacagaaca ttagcacatg taccttgtgc ctcccattca
     3001 agtgaagtta taatttacac tgagggtttc aaaattcgac tagaagtgga gatatattat
     3061 ttatttatgc actgtactgt atttttatat tgctgtttaa aacttttaag ctgtgcctca
     3121 cttattaaag cacaaaatgt tttacctact ccttatttac gacgcaataa aataacatca
     3181 atagattttt aggctgaatt aatttgaaag cagcaatttg ctgttctcaa ccattctttc
     3241 aaggcttttc attgttcaaa gttaataaaa aagtaggaca ataaagtgat gggtggcttt
     3301 ta
//
