LOCUS       NM_147191               1919 bp    mRNA    linear   PRI 03-APR-2024
DEFINITION  Homo sapiens matrix metallopeptidase 21 (MMP21), mRNA.
ACCESSION   NM_147191
VERSION     NM_147191.1
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 1919)
  AUTHORS   Qin,X.J., Xu,M.M., Ye,J.J., Niu,Y.W., Wu,Y.R., Xu,R., Li,F.,
            Fu,Q.H., Chen,S., Sun,K. and Xu,Y.J.
  TITLE     De novo disruptive heterozygous MMP21 variants are potential
            predisposing genetic risk factors in Chinese Han heterotaxy
            children
  JOURNAL   Hum Genomics 16 (1), 41 (2022)
   PUBMED   36123719
  REMARK    GeneRIF: De novo disruptive heterozygous MMP21 variants are
            potential predisposing genetic risk factors in Chinese Han
            heterotaxy children.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1919)
  AUTHORS   Rusek,M., Michalska-Jakubus,M., Kowal,M., Beltowski,J. and
            Krasowska,D.
  TITLE     A novel miRNA-4484 is up-regulated on microarray and associated
            with increased MMP-21 expression in serum of systemic sclerosis
            patients
  JOURNAL   Sci Rep 9 (1), 14264 (2019)
   PUBMED   31582779
  REMARK    GeneRIF: A novel miRNA-4484 is up-regulated on microarray and
            associated with increased MMP-21 expression in serum of systemic
            sclerosis patients.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1919)
  AUTHORS   Golyan,F.F., Abbaszadegan,M.R. and Forghanifard,M.M.
  TITLE     TWIST1, MMP-21, and HLAG-1 co-overexpression is associated with
            ESCC aggressiveness
  JOURNAL   J Cell Biochem 120 (9), 14838-14846 (2019)
   PUBMED   31016793
  REMARK    GeneRIF: TWIST1, MMP-21, and HLAG-1 co-overexpression is associated
            with ESCC aggressiveness.
REFERENCE   4  (bases 1 to 1919)
  AUTHORS   Singh,H., Samani,D., Nambiar,N., Ghate,M.V. and Gangakhedkar,R.R.
  TITLE     Effect of matrix metalloproteinase-21 (572C/T) polymorphism on
            HIV-associated neurocognitive disorder
  JOURNAL   APMIS 126 (4), 329-336 (2018)
   PUBMED   29575199
  REMARK    GeneRIF: MMP-21 572TT genotype increased the risk for the
            HIV-associated neurocognitive disorder.
REFERENCE   5  (bases 1 to 1919)
  AUTHORS   Guimier,A., Gabriel,G.C., Bajolle,F., Tsang,M., Liu,H., Noll,A.,
            Schwartz,M., El Malti,R., Smith,L.D., Klena,N.T., Jimenez,G.,
            Miller,N.A., Oufadem,M., Moreau de Bellaing,A., Yagi,H.,
            Saunders,C.J., Baker,C.N., Di Filippo,S., Peterson,K.A.,
            Thiffault,I., Bole-Feysot,C., Cooley,L.D., Farrow,E.G., Masson,C.,
            Schoen,P., Deleuze,J.F., Nitschke,P., Lyonnet,S., de Pontual,L.,
            Murray,S.A., Bonnet,D., Kingsmore,S.F., Amiel,J., Bouvagnet,P.,
            Lo,C.W. and Gordon,C.T.
  TITLE     MMP21 is mutated in human heterotaxy and is required for normal
            left-right asymmetry in vertebrates
  JOURNAL   Nat Genet 47 (11), 1260-1263 (2015)
   PUBMED   26437028
  REMARK    GeneRIF: Data show that MMP21 (encoding matrix metallopeptidase 21)
            point mutations were verified by Sanger sequencing, and segregation
            analysis indicated recessive inheritance.
REFERENCE   6  (bases 1 to 1919)
  AUTHORS   Shagisultanova,E.I., Novikova,I.A., Sidorenko,Y.S., Marchenko,G.N.,
            Strongin,A.Y. and Malkhosyan,S.R.
  TITLE     The matrix metalloproteinase-21 gene 572C/T polymorphism and the
            risk of breast cancer
  JOURNAL   Anticancer Res 24 (1), 199-201 (2004)
   PUBMED   15015597
  REMARK    GeneRIF: The MMP-21 gene 572C/T polymorphism has no significant
            effect on the development and progression of breast cancer.
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (bases 1 to 1919)
  AUTHORS   Ahokas,K., Lohi,J., Illman,S.A., Llano,E., Elomaa,O., Impola,U.,
            Karjalainen-Lindsberg,M.L. and Saarialho-Kere,U.
  TITLE     Matrix metalloproteinase-21 is expressed epithelially during
            development and in cancer and is up-regulated by transforming
            growth factor-beta1 in keratinocytes
  JOURNAL   Lab Invest 83 (12), 1887-1899 (2003)
   PUBMED   14691307
REFERENCE   8  (bases 1 to 1919)
  AUTHORS   Marchenko,G.N., Marchenko,N.D. and Strongin,A.Y.
  TITLE     The structure and regulation of the human and mouse matrix
            metalloproteinase-21 gene and protein
  JOURNAL   Biochem J 372 (Pt 2), 503-515 (2003)
   PUBMED   12617721
REFERENCE   9  (bases 1 to 1919)
  AUTHORS   Ahokas,K., Lohi,J., Lohi,H., Elomaa,O., Karjalainen-Lindsberg,M.L.,
            Kere,J. and Saarialho-Kere,U.
  TITLE     Matrix metalloproteinase-21, the human orthologue for XMMP, is
            expressed during fetal development and in cancer
  JOURNAL   Gene 301 (1-2), 31-41 (2002)
   PUBMED   12490321
REFERENCE   10 (bases 1 to 1919)
  AUTHORS   Brinckerhoff,C.E. and Matrisian,L.M.
  TITLE     Matrix metalloproteinases: a tail of a frog that became a prince
  JOURNAL   Nat Rev Mol Cell Biol 3 (3), 207-214 (2002)
   PUBMED   11994741
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF520613.1 and AF331526.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: This gene encodes a member of the matrix metalloproteinase
            family. Proteins in this family are involved in the breakdown of
            extracellular matrix for both normal physiological processes, such
            as embryonic development, reproduction, and tissue remodeling, and
            disease processes, such as asthma and tumor metastasis. The encoded
            protein may play an important role in embryogenesis, particularly
            in neuronal cells, as well as in lymphocyte development and
            survival. [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 :: AF331526.1, AF520613.1 [ECO:0000332]
            RNAseq introns              :: partial sample support SAMEA2155628
                                           [ECO:0000350]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000368808.3/ ENSP00000357798.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-571               AF520613.1         1-571
            572-1919            AF331526.1         572-1919
FEATURES             Location/Qualifiers
     source          1..1919
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q26.2"
     gene            1..1919
                     /gene="MMP21"
                     /gene_synonym="HTX7; MMP-21"
                     /note="matrix metallopeptidase 21"
                     /db_xref="GeneID:118856"
                     /db_xref="HGNC:HGNC:14357"
                     /db_xref="MIM:608416"
     CDS             1..1710
                     /gene="MMP21"
                     /gene_synonym="HTX7; MMP-21"
                     /note="matrix metalloproteinase 21"
                     /codon_start=1
                     /product="matrix metalloproteinase-21 preproprotein"
                     /protein_id="NP_671724.1"
                     /db_xref="CCDS:CCDS7647.1"
                     /db_xref="GeneID:118856"
                     /db_xref="HGNC:HGNC:14357"
                     /db_xref="MIM:608416"
                     /translation="MLAASIFRPTLLLCWLAAPWPTQPESLFHSRDRSDLEPSPLRQA
                     KPIADLHAAQRFLSRYGWSGVWAAWGPSPEGPPETPKGAALAEAVRRFQRANALPASG
                     ELDAATLAAMNRPRCGVPDMRPPPPSAPPSPPGPPPRARSRRSPRAPLSLSRRGWQPR
                     GYPDGGAAQAFSKRTLSWRLLGEALSSQLSVADQRRIVALAFRMWSEVTPLDFREDLA
                     APGAAVDIKLGFGRGRHLGCPRAFDGSGQEFAHAWRLGDIHFDDDEHFTPPTSDTGIS
                     LLKVAVHEIGHVLGLPHTYRTGSIMQPNYIPQEPAFELDWSDRKAIQKLYGSCEGSFD
                     TAFDWIRKERNQYGEVMVRFSTYFFRNSWYWLYENRNNRTRYGDPIQILTGWPGIPTH
                     NIDAFVHIWTWKRDERYFFQGNQYWRYDSDKDQALTEDEQGKSYPKLISEGFPGIPSP
                     LDTAFYDRRQKLIYFFKESLVFAFDVNRNRVLNSYPKRITEVFPAVIPQNHPFRNIDS
                     AYYSYAYNSIFFFKGNAYWKVVNDKDKQQNSWLPANGLFPKKFISEKWFDVCDVHIST
                     LNM"
     exon            1..162
                     /gene="MMP21"
                     /gene_synonym="HTX7; MMP-21"
                     /inference="alignment:Splign:2.1.0"
     exon            163..697
                     /gene="MMP21"
                     /gene_synonym="HTX7; MMP-21"
                     /inference="alignment:Splign:2.1.0"
     exon            698..837
                     /gene="MMP21"
                     /gene_synonym="HTX7; MMP-21"
                     /inference="alignment:Splign:2.1.0"
     exon            838..979
                     /gene="MMP21"
                     /gene_synonym="HTX7; MMP-21"
                     /inference="alignment:Splign:2.1.0"
     exon            980..1237
                     /gene="MMP21"
                     /gene_synonym="HTX7; MMP-21"
                     /inference="alignment:Splign:2.1.0"
     exon            1238..1410
                     /gene="MMP21"
                     /gene_synonym="HTX7; MMP-21"
                     /inference="alignment:Splign:2.1.0"
     exon            1411..1919
                     /gene="MMP21"
                     /gene_synonym="HTX7; MMP-21"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 atgctcgccg cctccatctt ccgtccgaca ctgctgctct gctggctggc tgctccctgg
       61 cccacccagc ccgagagtct cttccacagc cgggaccgct cggacctgga gccgtcccca
      121 ctgcgccagg ccaagcccat tgccgacctc cacgctgctc agcggttcct gtccagatac
      181 ggctggtcag gggtgtgggc ggcctggggg cccagtcccg aggggccgcc ggagaccccc
      241 aagggcgccg ccctggccga ggcggtgcgc aggttccagc gggcgaacgc gctgccggcc
      301 agcggggagc tggacgcggc caccctagcg gccatgaacc ggccgcgctg cggggtcccg
      361 gacatgcgcc caccgccccc ctccgccccg ccttcgcccc cgggcccgcc ccccagagcc
      421 cgctccaggc gctccccgcg ggcgccgctg tccttgtccc ggcggggttg gcagccccgg
      481 ggctaccccg acggcggagc tgcccaggcc ttctccaaga ggacgctgag ctggcggctg
      541 ctgggcgagg ccctgagcag ccaactgtcc gtggccgacc agcggcgcat tgtggcgctg
      601 gccttcagga tgtggagcga ggtgacgccg ctggacttcc gcgaggacct ggccgccccc
      661 ggggccgcgg tcgacatcaa gctgggcttt gggagaggcc ggcacctggg ctgtccgcgg
      721 gccttcgatg ggagcgggca ggagtttgca cacgcctggc gcctaggtga cattcacttt
      781 gacgacgacg agcacttcac acctcccacc agtgacacgg gcatcagcct tctcaaggtg
      841 gccgtccatg aaattggcca tgtcctgggc ttgcctcaca cctacaggac gggatccata
      901 atgcaaccaa attacattcc ccaggagcct gcctttgagt tggactggtc agacaggaaa
      961 gcaattcaaa agctgtatgg ctcctgtgag ggatcatttg atactgcgtt tgactggatt
     1021 cgcaaagaga gaaaccaata tggagaggtg atggtgagat ttagcacata tttcttccgt
     1081 aacagctggt actggcttta tgaaaatcga aacaatagga cacgctatgg ggaccctatc
     1141 caaatcctca ctggctggcc tggaatccca acacacaaca tagatgcctt tgttcacatc
     1201 tggacatgga aaagagatga acgttatttt tttcaaggaa atcaatactg gagatatgac
     1261 agtgacaagg atcaggccct cacagaagat gaacaaggaa aaagctatcc caaattgatt
     1321 tcagaaggat ttcctggcat cccaagtccc ctagacacgg cgttttatga ccgaagacag
     1381 aagttaattt acttcttcaa ggagtccctt gtatttgcat ttgatgtcaa cagaaatcga
     1441 gtacttaatt cttatccaaa gaggattact gaagtttttc cagcagtaat accacaaaat
     1501 catcctttca gaaatataga ttccgcttat tactcctatg catacaactc cattttcttt
     1561 ttcaaaggca atgcatactg gaaggtagtt aatgacaagg acaaacaaca gaattcctgg
     1621 cttcctgcta atggcttatt tccaaaaaag tttatttcag agaagtggtt tgatgtttgt
     1681 gacgtccata tctccacact gaacatgtaa taagaaaaag taggaaatgg agggtcatag
     1741 gacttcgcta aaattctgat actgtttaca aagaaaaccg gattttcagt agctgaagaa
     1801 aatatggcac tgtaagttaa aacccaatgg gaaaagcctt agttgaactt ttaaaatact
     1861 tgatttaaaa acaattgctc aggcaaaaca taattcataa actaaaaggt ttaaaaaaa
//
