LOCUS       NM_002379               3830 bp    mRNA    linear   PRI 03-APR-2024
DEFINITION  Homo sapiens matrilin 1 (MATN1), mRNA.
ACCESSION   NM_002379
VERSION     NM_002379.3
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 3830)
  AUTHORS   Chimusa,E.R., Beighton,P., Kumuthini,J. and Ramesar,R.S.
  TITLE     Detecting genetic modifiers of spondyloepimetaphyseal dysplasia
            with joint laxity in the Caucasian Afrikaner community
  JOURNAL   Hum Mol Genet 28 (7), 1053-1063 (2019)
   PUBMED   30358852
  REMARK    GeneRIF: We identified two candidate mutations in COL1A2 and MATN1,
            which might be affected by the main known mutation in B3GALT6.  Our
            finding replicated a previously identified mutation in KIF22 to be
            potentially associated with spondyloepimetaphyseal dysplasia with
            joint laxity. We also show that our identified candidate mutation
            genes, COL1A2, MATN1 and KIF22, are in a direct biological
            interaction with B3GALT6.
REFERENCE   2  (bases 1 to 3830)
  AUTHORS   Balkhande,P.B., Lakkakula,B.V.K.S. and Chitharanjan,A.B.
  TITLE     Relationship between matrilin-1 gene polymorphisms and mandibular
            retrognathism
  JOURNAL   Am J Orthod Dentofacial Orthop 153 (2), 255-261 (2018)
   PUBMED   29407503
  REMARK    GeneRIF: polymorphisms associated with mandibular retrognathism
REFERENCE   3  (bases 1 to 3830)
  AUTHORS   Foradori,M.J., Chen,Q., Fernandez,C.A., Harper,J., Li,X.,
            Tsang,P.C., Langer,R. and Moses,M.A.
  TITLE     Matrilin-1 is an inhibitor of neovascularization
  JOURNAL   J Biol Chem 289 (20), 14301-14309 (2014)
   PUBMED   24692560
  REMARK    GeneRIF: Matrilin-1 is an inhibitor of neovascularization
REFERENCE   4  (bases 1 to 3830)
  AUTHORS   Zhang,H., Zhao,S., Zhao,Z., Tang,L., Guo,Q., Liu,S. and Chen,L.
  TITLE     The association of rs1149048 polymorphism in matrilin-1(MATN1) gene
            with adolescent idiopathic scoliosis susceptibility: a
            meta-analysis
  JOURNAL   Mol Biol Rep 41 (4), 2543-2549 (2014)
   PUBMED   24469715
  REMARK    GeneRIF: this meta-analysis found an overall significant
            association of rs1149048 polymorphism with risk of AIS, especially
            in Asian population.
REFERENCE   5  (bases 1 to 3830)
  AUTHORS   Yilmaz,H., Zateri,C., Uludag,A., Bakar,C., Kosar,S. and Ozdemir,O.
  TITLE     Single-nucleotide polymorphism in Turkish patients with adolescent
            idiopathic scoliosis: curve progression is not related with MATN-1,
            LCT C/T-13910, and VDR BsmI
  JOURNAL   J Orthop Res 30 (9), 1459-1463 (2012)
   PUBMED   22278929
  REMARK    GeneRIF: no significant difference in single nucleotide
            polymorphism between adolescent idiopathic scoliosis cases and
            controls
REFERENCE   6  (bases 1 to 3830)
  AUTHORS   Makihira,S., Yan,W., Ohno,S., Kawamoto,T., Fujimoto,K., Okimura,A.,
            Yoshida,E., Noshiro,M., Hamada,T. and Kato,Y.
  TITLE     Enhancement of cell adhesion and spreading by a cartilage-specific
            noncollagenous protein, cartilage matrix protein (CMP/Matrilin-1),
            via integrin alpha1beta1
  JOURNAL   J Biol Chem 274 (16), 11417-11423 (1999)
   PUBMED   10196235
REFERENCE   7  (bases 1 to 3830)
  AUTHORS   Deak,F., Piecha,D., Bachrati,C., Paulsson,M. and Kiss,I.
  TITLE     Primary structure and expression of matrilin-2, the closest
            relative of cartilage matrix protein within the von Willebrand
            factor type A-like module superfamily
  JOURNAL   J Biol Chem 272 (14), 9268-9274 (1997)
   PUBMED   9083061
REFERENCE   8  (bases 1 to 3830)
  AUTHORS   Loughlin,J., Irven,C. and Sykes,B.
  TITLE     Exclusion of the cartilage link protein and the cartilage matrix
            protein genes as the mutant loci in several heritable
            chondrodysplasias
  JOURNAL   Hum Genet 94 (6), 698-700 (1994)
   PUBMED   7989046
REFERENCE   9  (bases 1 to 3830)
  AUTHORS   Winterbottom,N., Tondravi,M.M., Harrington,T.L., Klier,F.G.,
            Vertel,B.M. and Goetinck,P.F.
  TITLE     Cartilage matrix protein is a component of the collagen fibril of
            cartilage
  JOURNAL   Dev Dyn 193 (3), 266-276 (1992)
   PUBMED   1600245
REFERENCE   10 (bases 1 to 3830)
  AUTHORS   Jenkins,R.N., Osborne-Lawrence,S.L., Sinclair,A.K., Eddy,R.L. Jr.,
            Byers,M.G., Shows,T.B. and Duby,A.D.
  TITLE     Structure and chromosomal location of the human gene encoding
            cartilage matrix protein
  JOURNAL   J Biol Chem 265 (32), 19624-19631 (1990)
   PUBMED   2246248
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK312949.1 and AL137857.29.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Sep 26, 2008 this sequence version replaced NM_002379.2.
            
            Summary: This gene encodes a member of von Willebrand factor A
            domain containing protein family. This family of proteins are
            thought to be involved in the formation of filamentous networks in
            the extracellular matrices of various tissues. Mutations of this
            gene have been associated with variety of inherited
            chondrodysplasias. [provided by RefSeq, Jul 2008].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because no single transcript was available
            for the full length of the gene. The extent of this transcript is
            supported by 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 :: AK312949.1, AK075519.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN03465420 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000373765.5/ ENSP00000362870.4
            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
            1-1525              AK312949.1         1-1525
            1526-3830           AL137857.29        128832-131136       c
FEATURES             Location/Qualifiers
     source          1..3830
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p35.2"
     gene            1..3830
                     /gene="MATN1"
                     /gene_synonym="CMP; CRTM"
                     /note="matrilin 1"
                     /db_xref="GeneID:4146"
                     /db_xref="HGNC:HGNC:6907"
                     /db_xref="MIM:115437"
     exon            1..128
                     /gene="MATN1"
                     /gene_synonym="CMP; CRTM"
                     /inference="alignment:Splign:2.1.0"
     CDS             35..1525
                     /gene="MATN1"
                     /gene_synonym="CMP; CRTM"
                     /note="matrilin 1, cartilage matrix protein"
                     /codon_start=1
                     /product="cartilage matrix protein precursor"
                     /protein_id="NP_002370.1"
                     /db_xref="CCDS:CCDS336.1"
                     /db_xref="GeneID:4146"
                     /db_xref="HGNC:HGNC:6907"
                     /db_xref="MIM:115437"
                     /translation="MRVLSGTSLMLCSLLLLLQALCSPGLAPQSRGHLCRTRPTDLVF
                     VVDSSRSVRPVEFEKVKVFLSQVIESLDVGPNATRVGMVNYASTVKQEFSLRAHVSKA
                     ALLQAVRRIQPLSTGTMTGLAIQFAITKAFGDAEGGRSRSPDISKVVIVVTDGRPQDS
                     VQDVSARARASGVELFAIGVGSVDKATLRQIASEPQDEHVDYVESYSVIEKLSRKFQE
                     AFCVVSDLCATGDHDCEQVCISSPGSYTCACHEGFTLNSDGKTCNVCSGGGGSSATDL
                     VFLIDGSKSVRPENFELVKKFISQIVDTLDVSDKLAQVGLVQYSSSVRQEFPLGRFHT
                     KKDIKAAVRNMSYMEKGTMTGAALKYLIDNSFTVSSGARPGAQKVGIVFTDGRSQDYI
                     NDAAKKAKDLGFKMFAVGVGNAVEDELREIASEPVAEHYFYTADFKTINQIGKKLQKK
                     ICVEEDPCACESLVKFQAKVEGLLQALTRKLEAVSKRLAILENTVV"
     exon            129..475
                     /gene="MATN1"
                     /gene_synonym="CMP; CRTM"
                     /inference="alignment:Splign:2.1.0"
     exon            476..698
                     /gene="MATN1"
                     /gene_synonym="CMP; CRTM"
                     /inference="alignment:Splign:2.1.0"
     exon            699..824
                     /gene="MATN1"
                     /gene_synonym="CMP; CRTM"
                     /inference="alignment:Splign:2.1.0"
     exon            825..1241
                     /gene="MATN1"
                     /gene_synonym="CMP; CRTM"
                     /inference="alignment:Splign:2.1.0"
     exon            1242..1394
                     /gene="MATN1"
                     /gene_synonym="CMP; CRTM"
                     /inference="alignment:Splign:2.1.0"
     exon            1395..1475
                     /gene="MATN1"
                     /gene_synonym="CMP; CRTM"
                     /inference="alignment:Splign:2.1.0"
     exon            1476..3830
                     /gene="MATN1"
                     /gene_synonym="CMP; CRTM"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1930..1935
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MATN1"
                     /gene_synonym="CMP; CRTM"
                     /note="hexamer: ATTAAA"
     polyA_site      1958
                     /gene="MATN1"
                     /gene_synonym="CMP; CRTM"
                     /note="major polyA site"
     regulatory      3811..3816
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MATN1"
                     /gene_synonym="CMP; CRTM"
                     /note="hexamer: AATAAA"
     polyA_site      3830
                     /gene="MATN1"
                     /gene_synonym="CMP; CRTM"
                     /note="major polyA site"
ORIGIN      
        1 aaccgtgccg gctgctgccc gtgctgccag aactatgagg gtcctctctg gcactagcct
       61 catgctctgc agcctgctgc tgctgctcca ggccctgtgc agccctggcc tcgcccccca
      121 gtccagaggc catctctgcc ggacgcggcc cacagacctg gtgtttgttg tcgacagctc
      181 tcgcagcgtt cggcctgttg aatttgagaa agtgaaggta ttcctgtccc aggtcatcga
      241 gtcgctggac gtggggccca atgccacccg ggtgggcatg gtcaactatg ccagcaccgt
      301 gaagcaggag ttctcgctgc gggctcatgt ctccaaggcc gcactgctgc aggctgtgcg
      361 ccgtatccag ccgctgtcca caggcaccat gaccggcctg gccatccagt tcgctatcac
      421 caaagccttc ggcgatgcag agggtggtcg ttccaggtcc cctgacatca gcaaggtggt
      481 catcgtggtg acagacggga ggccccagga cagcgtgcag gacgtgtctg cgcgggcccg
      541 ggccagcggc gtcgagctgt tcgccatcgg agtgggcagc gtggacaagg ccacgctgcg
      601 gcagatcgcc agcgagccgc aggacgaaca cgtcgattac gtggagagct acagcgtcat
      661 cgagaagctg tccaggaagt tccaggaggc cttctgcgtg gtgtcagacc tgtgcgccac
      721 aggggaccat gactgtgagc aggtgtgcat cagctccccc ggttcctaca cctgcgcctg
      781 ccacgagggc ttcactctga acagcgacgg caagacctgc aatgtctgca gtggtggtgg
      841 tggcagctcg gccactgacc tggtcttcct cattgacgga tccaagagtg tgaggccaga
      901 gaactttgag ctggtgaaga agttcatcag tcagatcgtg gatacgctgg acgtgtcaga
      961 caagctggcc caggtggggc tggtgcagta ctcaagctct gtgcgccagg agttccccct
     1021 gggtcgcttc cacaccaaga aggacatcaa ggcggctgtg cggaatatgt cctacatgga
     1081 gaagggcaca atgactgggg ctgctctcaa gtacctcatt gacaattcct tcactgtgtc
     1141 cagtggggct aggcccgggg cccagaaggt gggcattgtc ttcactgatg gccggagcca
     1201 ggactacatt aatgatgctg ccaagaaggc caaagacctc ggctttaaga tgtttgctgt
     1261 gggtgtgggc aatgccgtgg aggatgagct gagggaaata gcctcagagc ctgtggcaga
     1321 gcactacttc tacacggctg acttcaagac catcaaccag ataggcaaga agttgcagaa
     1381 gaagatctgt gtggaggaag acccgtgtgc ctgcgagtcc ctggtgaaat tccaagccaa
     1441 agtggagggg ctgctgcagg ccctgaccag gaaactggaa gctgtgagta agcggctggc
     1501 catcctggag aacacagttg tctaaggctg cctgtcacca ctgtggcctc tccaagcgtc
     1561 ctgcacgtgt ccgccgtagc tttaccattt tagtgaggga agccagcccg ggggtgggag
     1621 ggggtgtgtc tgggtgtgcc tattgagagc gtgtaatggc gtttgggagc tcgtgtgtgt
     1681 atgtgtgcgt gtgtgtatgt gtgcatgtgt gtgtgtgtgt gtgtgtgtgc acgtgcgcct
     1741 gagggtgggc atgagtcttg ccagaatgtg agtgtgagag tgataatgca ggggtgagtg
     1801 tgagagggac tgcgtttgca tttttataat caaaagctta atatattccc atctttttta
     1861 gttaaccctt tcttgactct gagtgctgtg aatttcttta ctgatttctc tattctccgg
     1921 tgagaaacaa ttaaatgtga tttaacgtaa gcagtgaatg gggctagagg cagtgtggtt
     1981 atttggggac cagggaaaag gatggatgaa gatgtggtgg gaggggatgg ttggaaggat
     2041 ggtaacagtg gtggtgacag tgatgacagt gaccacacca aaaccagctg gtgtttgtcc
     2101 tgccttttca gttacatatt catttagttg acctcatttc acttccagta accttaccca
     2161 gaaaagactc aaattatccc cattacaaat gggaaagctg agagtctaaa tgatgaaatg
     2221 acttgctcag cagtgggtcg ctgagagaca ggacttgaat ctaggactga agaacatcaa
     2281 aagaaaaagg cttcagagaa aaagggcaat gacaccagat aggactcatt tgttcattca
     2341 ttcattcgtt cactcattcg ttcaggtatc atgtacttac agggcaatgg cggtgggggg
     2401 ggatggtgct gtatgagaca gacgtagttc ctgccctaag agacatacag ttgagcaggg
     2461 tgctcatgtc acccccacca gccagaggga ccagccagag gaaaagagag tgggtttagg
     2521 tcgtaccagg ggtttgtgcc tcctcttgat acctgggagc ccacggggtg agtgtgtgtg
     2581 tgagatgatg ggaagggctc cagcctgggc ctgggctgcc ctaggtgcct ctcccctccc
     2641 gcccccaaca tgccctgttg gagttctgtt tgtttcctgt gcacaggcgg catcaccccc
     2701 aacccaaagt ccccaacgca gatggcagca gccccacctc agagactgca caagagaaag
     2761 actcctggcc ccatgttccc ttcctccagc cctatgtggg gtctgcaggt cacaccctga
     2821 gatctcggcc acctccccca ggcccctgtt ggaccagtgc tgctccggaa tctccatctc
     2881 tgtcctctca gagggggagc tttggtgatt ttctgaacct attcttgttt aatggagcat
     2941 ttttagtgtt actactagat tcacacttga gagcatgtct aaaaggcttt tacaagaagc
     3001 tcagaccaca ccgaaagatc ttcctcggag gcagttcaaa gaggcagaat aacaacacga
     3061 acggtaccca agagctacat cagtacaaca gcacaaatac acaagcgcga cttaactggg
     3121 gcacagccac cctcgccccc atgacctgac tccacctcct acacagttca ccaaaccctt
     3181 tctctctgtc cgtccctggg gcaggagttt ttctgctgtc caaggaggct ccttgacaca
     3241 gccacctgag aagttatgac tctgctcatt cttcctttct tctgagatta tccactcccc
     3301 tctcctcccc acacaggtgg ggagggggag aggcagccat gttgatatgg actgagaagg
     3361 ctcagcagtg tgtccccaag gaggaggaga gggtcattag cggacgccat ggcctgggag
     3421 ctggcgggca gaagcaacag atgtccctga tgagtggagt cagagatggg gtggaagccc
     3481 tgcctgggaa taggacctcg ttcttccctg cccggtgggt ggagtagtgg caggaccttg
     3541 tcaccaggct ctgatgaagg cagggaccag cttcttggga tctttcaatc ccaaactctt
     3601 gcccttcact catcgcagtt ctccccacgg ctactccagg tcctcttgaa atccgtcctc
     3661 tccatggact tcccacatcc ctctctgctc taggtttgat taacagaagg ttgtaaatga
     3721 aaaccagcat ctcccgaggg cagccatggt ctactgacag atggcaagtt actttgtaac
     3781 ctgtaatttt gtttttttga attttgtata aataaacagg actaaactaa
//
