LOCUS       NM_001393530            2222 bp    mRNA    linear   PRI 22-SEP-2024
DEFINITION  Homo sapiens matrilin 4 (MATN4), transcript variant 4, mRNA.
ACCESSION   NM_001393530 XM_005260597
VERSION     NM_001393530.1
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 2222)
  AUTHORS   Zhang,L., Pan,Y., Pan,F., Huang,S., Wang,F., Zeng,Z., Chen,H. and
            Tian,X.
  TITLE     MATN4 as a target gene of HIF-1alpha promotes the proliferation and
            metastasis of osteosarcoma
  JOURNAL   Aging (Albany NY) 16 (12), 10462-10476 (2024)
   PUBMED   38889378
  REMARK    GeneRIF: MATN4 as a target gene of HIF-1alpha promotes the
            proliferation and metastasis of osteosarcoma.
REFERENCE   2  (bases 1 to 2222)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 2222)
  AUTHORS   Szalai,E., Felszeghy,S., Hegyi,Z., Modis,L. Jr., Berta,A. and
            Kaarniranta,K.
  TITLE     Fibrillin-2, tenascin-C, matrilin-2, and matrilin-4 are strongly
            expressed in the epithelium of human granular and lattice type I
            corneal dystrophies
  JOURNAL   Mol Vis 18, 1927-1936 (2012)
   PUBMED   22876117
REFERENCE   4  (bases 1 to 2222)
  AUTHORS   Chen,C., Wei,X., Ling,J. and Xie,N.
  TITLE     Expression of matrilin-2 and -4 in human dental pulps during
            dentin-pulp complex wound healing
  JOURNAL   J Endod 37 (5), 642-649 (2011)
   PUBMED   21496664
REFERENCE   5  (bases 1 to 2222)
  AUTHORS   Ehlen,H.W., Sengle,G., Klatt,A.R., Talke,A., Muller,S., Paulsson,M.
            and Wagener,R.
  TITLE     Proteolytic processing causes extensive heterogeneity of tissue
            matrilin forms
  JOURNAL   J Biol Chem 284 (32), 21545-21556 (2009)
   PUBMED   19531486
REFERENCE   6  (bases 1 to 2222)
  AUTHORS   Klatt,A.R., Nitsche,D.P., Kobbe,B., Macht,M., Paulsson,M. and
            Wagener,R.
  TITLE     Molecular structure, processing, and tissue distribution of
            matrilin-4
  JOURNAL   J Biol Chem 276 (20), 17267-17275 (2001)
   PUBMED   11279097
REFERENCE   7  (bases 1 to 2222)
  AUTHORS   Paulsson,M., Piecha,D., Segat,D., Smyth,N. and Wagener,R.
  TITLE     The matrilins: a growing family of A-domain-containing proteins
  JOURNAL   Biochem Soc Trans 27 (6), 824-826 (1999)
   PUBMED   10830110
  REMARK    Review article
REFERENCE   8  (bases 1 to 2222)
  AUTHORS   Deak,F., Wagener,R., Kiss,I. and Paulsson,M.
  TITLE     The matrilins: a novel family of oligomeric extracellular matrix
            proteins
  JOURNAL   Matrix Biol 18 (1), 55-64 (1999)
   PUBMED   10367731
  REMARK    Review article
REFERENCE   9  (bases 1 to 2222)
  AUTHORS   Wagener,R., Kobbe,B. and Paulsson,M.
  TITLE     Genomic organisation, alternative splicing and primary structure of
            human matrilin-4
  JOURNAL   FEBS Lett 438 (3), 165-170 (1998)
   PUBMED   9827539
REFERENCE   10 (bases 1 to 2222)
  AUTHORS   Jay,P., Diriong,S., Taviaux,S., Roeckel,N., Mattei,M.G., Audit,M.,
            Berge-Lefranc,J.L., Fontes,M. and Berta,P.
  TITLE     Isolation and regional mapping of cDNAs expressed during early
            human development
  JOURNAL   Genomics 39 (1), 104-108 (1997)
   PUBMED   9027493
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL021578.4.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Feb 18, 2021 this sequence version replaced XM_005260597.1.
            
            Summary: This gene encodes a member of von Willebrand factor A
            domain-containing protein family. The proteins of this family are
            thought to be involved in the formation of filamentous networks in
            the extracellular matrices of various tissues. This family member
            is thought to be play a role in reorganizing and regenerating the
            corneal matrix in granular and lattice type I dystrophies. It may
            also be involved in wound healing in the dentin-pulp complex.
            Alternative splicing results in multiple transcript variants.
            [provided by RefSeq, May 2013].
            
            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 :: BC151219.1, SRR18074967.134178.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145893, SAMEA2154125
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000372756.6/ ENSP00000361842.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-125               AL021578.4         19445-19569         c
            126-232             AL021578.4         16780-16886         c
            233-802             AL021578.4         15498-16067         c
            803-925             AL021578.4         12591-12713         c
            926-1048            AL021578.4         12372-12494         c
            1049-1171           AL021578.4         12157-12279         c
            1172-1585           AL021578.4         9440-9853           c
            1586-1738           AL021578.4         9188-9340           c
            1739-1846           AL021578.4         5178-5285           c
            1847-2222           AL021578.4         4720-5095           c
FEATURES             Location/Qualifiers
     source          1..2222
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q13.12"
     gene            1..2222
                     /gene="MATN4"
                     /note="matrilin 4"
                     /db_xref="GeneID:8785"
                     /db_xref="HGNC:HGNC:6910"
                     /db_xref="MIM:603897"
     exon            1..125
                     /gene="MATN4"
                     /inference="alignment:Splign:2.1.0"
     exon            126..232
                     /gene="MATN4"
                     /inference="alignment:Splign:2.1.0"
     CDS             160..1905
                     /gene="MATN4"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 4"
                     /codon_start=1
                     /product="matrilin-4 isoform 1 precursor"
                     /protein_id="NP_001380459.1"
                     /db_xref="CCDS:CCDS13348.1"
                     /db_xref="GeneID:8785"
                     /db_xref="HGNC:HGNC:6910"
                     /db_xref="MIM:603897"
                     /translation="MRGLLCWPVLLLLLQPWETQLQLTGPRCHTGPLDLVFVIDSSRS
                     VRPFEFETMRQFLMGLLRGLNVGPNATRVGVIQYSSQVQSVFPLRAFSRREDMERAIR
                     DLVPLAQGTMTGLAIQYAMNVAFSVAEGARPPEERVPRVAVIVTDGRPQDRVAEVAAQ
                     ARARGIEIYAVGVQRADVGSLRAMASPPLDEHVFLVESFDLIQEFGLQFQSRLCAIDL
                     CAEGTHGCEHHCVNSPGSYFCHCQVGFVLQQDQRSCRAIDYCSFGNHSCQHECVSTPG
                     GPRCHCREGHDLQPDGRSCQVRDLCNGVDHGCEFQCVSEGLSYRCLCPEGRQLQADGK
                     SCNRCREGHVDLVLLVDGSKSVRPQNFELVKRFVNQIVDFLDVSPEGTRVGLVQFSSR
                     VRTEFPLGRYGTAAEVKQAVLAVEYMERGTMTGLALRHMVEHSFSEAQGARPRALNVP
                     RVGLVFTDGRSQDDISVWAARAKEEGIVMYAVGVGKAVEAELREIASEPAELHVSYAP
                     DFGTMTHLLENLRGSICPEEGISAGTELRSPCECESLVEFQGRTLGALESLTLNLAQL
                     TARLEDLENQLANQK"
     exon            233..802
                     /gene="MATN4"
                     /inference="alignment:Splign:2.1.0"
     exon            803..925
                     /gene="MATN4"
                     /inference="alignment:Splign:2.1.0"
     exon            926..1048
                     /gene="MATN4"
                     /inference="alignment:Splign:2.1.0"
     exon            1049..1171
                     /gene="MATN4"
                     /inference="alignment:Splign:2.1.0"
     exon            1172..1585
                     /gene="MATN4"
                     /inference="alignment:Splign:2.1.0"
     exon            1586..1738
                     /gene="MATN4"
                     /inference="alignment:Splign:2.1.0"
     exon            1739..1846
                     /gene="MATN4"
                     /inference="alignment:Splign:2.1.0"
     exon            1847..2222
                     /gene="MATN4"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2202..2207
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MATN4"
                     /note="hexamer: AATAAA"
     polyA_site      2222
                     /gene="MATN4"
                     /note="major polyA site"
ORIGIN      
        1 agctgcctgg cagtccccac ctagggcacg ctgccacgcc gccgttacct ggtccaagtg
       61 cccgggaggc tccgcctgtc ggcttcgctc tgcagctgca tctctgatct gtcctgcagg
      121 ctcaggctct gacacctcca ttctctgtcc ccaagcgcca tgagaggcct tctttgctgg
      181 cccgtgttgc tgctccttct tcagccctgg gaaacccagc tccagttgac aggtcccagg
      241 tgtcacactg ggcccctgga tctggtgttc gtgattgaca gctcccgcag cgtgcgccct
      301 ttcgagttcg agaccatgcg gcagttcctc atgggcctcc tccgaggcct gaacgtgggt
      361 cccaacgcca cgcgcgttgg cgtgatccag tattcgagtc aagtgcagag cgtcttccct
      421 ctccgcgcgt tctctcgccg cgaggacatg gagcgcgcca tccgcgacct ggtgcctctg
      481 gcgcaaggca ccatgacggg actggcaatc cagtacgcca tgaacgtggc cttcagtgtg
      541 gccgagggcg cgcgaccgcc agaggagcgc gtgccgcgtg tcgctgtcat cgtgacagac
      601 gggcggcccc aggaccgcgt ggccgaggtg gcggcacagg cgcgcgcccg cggcattgaa
      661 atttacgcgg tgggggtgca gcgcgcggac gtgggctccc tgcgcgccat ggcatcgccc
      721 ccgctagacg agcacgtctt cctcgtagag tccttcgacc tcatccagga gttcggcctg
      781 cagttccaga gccggctgtg tgccattgat ctgtgtgctg aagggaccca tggatgtgag
      841 caccactgcg tcaattcccc aggctcctat ttctgtcact gccaagttgg ctttgtactc
      901 cagcaggacc agaggagctg cagggccatt gactactgca gctttgggaa ccatagctgt
      961 cagcatgagt gtgttagcac ccctggtggg ccacggtgcc actgcagaga gggccatgac
     1021 ttgcagcctg atgggaggag ctgtcaggtc cgggaccttt gcaatggcgt ggaccatggc
     1081 tgtgagttcc agtgtgtgag cgagggcctc tcctaccgct gcctgtgccc cgaggggcgg
     1141 caacttcagg cagatggcaa gagctgcaac cggtgccggg aaggccacgt ggaccttgtt
     1201 ctgctggttg atggctccaa gagcgtgcgt ccacaaaact tcgagctagt gaagcgcttc
     1261 gtgaaccaga ttgtggactt cctagatgtg tcccccgagg gcacgcgggt ggggctggtg
     1321 cagttctcga gccgcgtgcg caccgagttc cctctgggtc gctacggcac cgcagccgag
     1381 gtgaagcagg cggtcctggc cgtggagtac atggaacgcg gcaccatgac agggctggcg
     1441 ttgcggcaca tggtggagca cagcttctcc gaggcgcagg gtgcacggcc ccgtgccctt
     1501 aacgtgcctc gtgttggcct ggtcttcacg gatggccgct cccaggatga catctcggtg
     1561 tgggcagcgc gcgccaagga ggaaggcatc gtcatgtacg ccgtgggcgt gggcaaggcg
     1621 gtggaggcgg agctgcgcga gatcgcctcg gagccagcgg aactgcacgt gtcctatgcc
     1681 ccggacttcg gcaccatgac gcacctgctg gagaacctca gaggcagcat ctgtccagag
     1741 gagggcatca gcgcagggac agagcttcgg agcccatgcg aatgcgaaag cctcgtggag
     1801 ttccagggcc gcacgctggg ggcgctcgag agcctgacgc tgaacctggc ccagctgacg
     1861 gcgcgcctgg aggatctgga gaaccagctg gccaaccaga agtgagggcc acggacggcc
     1921 cagacccggg ctggggcgcg gcaccacgga cggtgcccct tgcgcgccat cggtgcgccg
     1981 gggccaggca gaacctgggc ccgtccggct tgggctgtcg gggcggaggc gctggcgggc
     2041 ttccggcatt gagctgagtt ggcctcgccc ggaccattag gcggactgcg gcgtcagggg
     2101 gatagcgggt ggtgagggaa ggggcacgtg ctagaccggc acgccctcgc cgcgtgctgc
     2161 gctcagttct ttgttggatt tcttgtttgt gttcttaaaa aaataaaaaa aactgatttc
     2221 ca
//
