LOCUS       NM_004771               1959 bp    mRNA    linear   PRI 11-SEP-2024
DEFINITION  Homo sapiens matrix metallopeptidase 20 (MMP20), mRNA.
ACCESSION   NM_004771
VERSION     NM_004771.4
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 1959)
  AUTHORS   Li,Y., Pan,J., Li,H., Liu,Q., Ma,F., Xiao,L. and Zeng,X.
  TITLE     Association between LTF/MMP20/CA6/TAS1R2 polymorphisms and
            susceptibility to dental caries
  JOURNAL   Clin Oral Investig 28 (9), 508 (2024)
   PUBMED   39212776
  REMARK    GeneRIF: Association between LTF/MMP20/CA6/TAS1R2 polymorphisms and
            susceptibility to dental caries.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1959)
  AUTHORS   Mok,P.L., Anandasayanam,A.N.K., Oscar David,H.M., Tong,J.,
            Farhana,A., Khan,M.S.A., Sivaprakasam,G., Koh,A.E. and Alzahrani,B.
  TITLE     Lung development, repair and cancer: A study on the role of MMP20
            gene in adenocarcinoma
  JOURNAL   PLoS One 16 (4), e0250552 (2021)
   PUBMED   33914777
  REMARK    GeneRIF: Lung development, repair and cancer: A study on the role
            of MMP20 gene in adenocarcinoma.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1959)
  AUTHORS   Hocevar,L., Kovac,J., Podkrajsek,K.T., Battelino,S. and Pavlic,A.
  TITLE     The possible influence of genetic aetiological factors on
            molar-incisor hypomineralisation
  JOURNAL   Arch Oral Biol 118, 104848 (2020)
   PUBMED   32777581
  REMARK    GeneRIF: The possible influence of genetic aetiological factors on
            molar-incisor hypomineralisation.
REFERENCE   4  (bases 1 to 1959)
  AUTHORS   Wang,S.K., Zhang,H., Chavez,M.B., Hu,Y., Seymen,F., Koruyucu,M.,
            Kasimoglu,Y., Colvin,C.D., Kolli,T.N., Tan,M.H., Wang,Y.L.,
            Lu,P.Y., Kim,J.W., Foster,B.L., Bartlett,J.D., Simmer,J.P. and
            Hu,J.C.
  TITLE     Dental malformations associated with biallelic MMP20 mutations
  JOURNAL   Mol Genet Genomic Med 8 (8), e1307 (2020)
   PUBMED   32495503
  REMARK    GeneRIF: Dental malformations associated with biallelic MMP20
            mutations.
REFERENCE   5  (bases 1 to 1959)
  AUTHORS   Tremillo-Maldonado,O., Molina-Frechero,N., Gonzalez-Gonzalez,R.,
            Damian-Matsumura,P., Sanchez-Perez,L., Sicco,E., Suarez,M. and
            Bologna-Molina,R.
  TITLE     DNA sequencing reveals AMELX, ODAM and MMP20 variations in dental
            fluorosis
  JOURNAL   Arch Oral Biol 110, 104626 (2020)
   PUBMED   31838295
  REMARK    GeneRIF: AMELX and ODAM variations was not different between two
            populations of schoolchildren with respect to dental fluorosis (DF)
            severity; however, the presence of rs1784418 differed between
            phenotypes with regard to susceptibility to DF. Therefore, MMP20
            might be related to the various phenotypes of DF
REFERENCE   6  (bases 1 to 1959)
  AUTHORS   Stracke,J.O., Fosang,A.J., Last,K., Mercuri,F.A., Pendas,A.M.,
            Llano,E., Perris,R., Di Cesare,P.E., Murphy,G. and Knauper,V.
  TITLE     Matrix metalloproteinases 19 and 20 cleave aggrecan and cartilage
            oligomeric matrix protein (COMP)
  JOURNAL   FEBS Lett 478 (1-2), 52-56 (2000)
   PUBMED   10922468
REFERENCE   7  (bases 1 to 1959)
  AUTHORS   Nagase,H. and Woessner,J.F. Jr.
  TITLE     Matrix metalloproteinases
  JOURNAL   J Biol Chem 274 (31), 21491-21494 (1999)
   PUBMED   10419448
  REMARK    Review article
REFERENCE   8  (bases 1 to 1959)
  AUTHORS   Bartlett,J.D. and Simmer,J.P.
  TITLE     Proteinases in developing dental enamel
  JOURNAL   Crit Rev Oral Biol Med 10 (4), 425-441 (1999)
   PUBMED   10634581
  REMARK    Review article
REFERENCE   9  (bases 1 to 1959)
  AUTHORS   Llano,E., Pendas,A.M., Knauper,V., Sorsa,T., Salo,T., Salido,E.,
            Murphy,G., Simmer,J.P., Bartlett,J.D. and Lopez-Otin,C.
  TITLE     Identification and structural and functional characterization of
            human enamelysin (MMP-20)
  JOURNAL   Biochemistry 36 (49), 15101-15108 (1997)
   PUBMED   9398237
REFERENCE   10 (bases 1 to 1959)
  AUTHORS   Pendas,A.M., Santamaria,I., Alvarez,M.V., Pritchard,M. and
            Lopez-Otin,C.
  TITLE     Fine physical mapping of the human matrix metalloproteinase genes
            clustered on chromosome 11q22.3
  JOURNAL   Genomics 37 (2), 266-268 (1996)
   PUBMED   8921407
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AP000851.4.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_004771.3.
            
            Summary: Proteins of the matrix metalloproteinase (MMP) family are
            involved in the breakdown of extracellular matrix in normal
            physiological processes, such as embryonic development,
            reproduction, and tissue remodeling, as well as in disease
            processes, such as arthritis and metastasis. Most MMP's are
            secreted as inactive proproteins which are activated when cleaved
            by extracellular proteinases. The protein encoded by this gene
            degrades amelogenin, the major protein component of dental enamel
            matrix, and thus thought to play a role in tooth enamel formation.
            A mutation in this gene, which alters the normal splice pattern and
            results in premature termination of the encoded protein, has been
            associated with amelogenesis imperfecta. This gene is part of a
            cluster of MMP genes located on chromosome 11q22.3. [provided by
            RefSeq, Aug 2011].
            
            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 :: Y12779.1 [ECO:0000332]
            RNAseq introns              :: partial sample support SAMEA1966682
                                           [ECO:0000350]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000260228.3/ ENSP00000260228.2
            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
            1-139               AP000851.4         78294-78432         c
            140-387             AP000851.4         69912-70159         c
            388-536             AP000851.4         64855-65003         c
            537-662             AP000851.4         63005-63130         c
            663-824             AP000851.4         62037-62198         c
            825-966             AP000851.4         59635-59776         c
            967-1103            AP000851.4         47721-47857         c
            1104-1260           AP000851.4         46539-46695         c
            1261-1364           AP000851.4         32139-32242         c
            1365-1959           AP000851.4         29932-30526         c
FEATURES             Location/Qualifiers
     source          1..1959
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q22.2"
     gene            1..1959
                     /gene="MMP20"
                     /gene_synonym="AI2A2; MMP-20"
                     /note="matrix metallopeptidase 20"
                     /db_xref="GeneID:9313"
                     /db_xref="HGNC:HGNC:7167"
                     /db_xref="MIM:604629"
     exon            1..139
                     /gene="MMP20"
                     /gene_synonym="AI2A2; MMP-20"
                     /inference="alignment:Splign:2.1.0"
     CDS             14..1465
                     /gene="MMP20"
                     /gene_synonym="AI2A2; MMP-20"
                     /note="matrix metalloproteinase 20 (enamelysin); enamel
                     metalloproteinase; matrix metalloproteinase-20"
                     /codon_start=1
                     /product="matrix metalloproteinase-20 preproprotein"
                     /protein_id="NP_004762.2"
                     /db_xref="CCDS:CCDS8318.1"
                     /db_xref="GeneID:9313"
                     /db_xref="HGNC:HGNC:7167"
                     /db_xref="MIM:604629"
                     /translation="MKVLPASGLAVFLIMALKFSTAAPSLVAASPRTWRNNYRLAQAY
                     LDKYYTNKEGHQIGEMVARGSNSMIRKIKELQAFFGLQVTGKLDQTTMNVIKKPRCGV
                     PDVANYRLFPGEPKWKKNTLTYRISKYTPSMSSVEVDKAVEMALQAWSSAVPLSFVRI
                     NSGEADIMISFENGDHGDSYPFDGPRGTLAHAFAPGEGLGGDTHFDNAEKWTMGTNGF
                     NLFTVAAHEFGHALGLAHSTDPSALMYPTYKYKNPYGFHLPKDDVKGIQALYGPRKVF
                     LGKPTLPHAPHHKPSIPDLCDSSSSFDAVTMLGKELLLFKDRIFWRRQVHLRTGIRPS
                     TITSSFPQLMSNVDAAYEVAERGTAYFFKGPHYWITRGFQMQGPPRTIYDFGFPRHVQ
                     QIDAAVYLREPQKTLFFVGDEYYSYDERKRKMEKDYPKNTEEEFSGVNGQIDAAVELN
                     GYIYFFSGPKTYKYDTEKEDVVSVVKSSSWIGC"
     exon            140..387
                     /gene="MMP20"
                     /gene_synonym="AI2A2; MMP-20"
                     /inference="alignment:Splign:2.1.0"
     exon            388..536
                     /gene="MMP20"
                     /gene_synonym="AI2A2; MMP-20"
                     /inference="alignment:Splign:2.1.0"
     exon            537..662
                     /gene="MMP20"
                     /gene_synonym="AI2A2; MMP-20"
                     /inference="alignment:Splign:2.1.0"
     exon            663..824
                     /gene="MMP20"
                     /gene_synonym="AI2A2; MMP-20"
                     /inference="alignment:Splign:2.1.0"
     exon            825..966
                     /gene="MMP20"
                     /gene_synonym="AI2A2; MMP-20"
                     /inference="alignment:Splign:2.1.0"
     exon            967..1103
                     /gene="MMP20"
                     /gene_synonym="AI2A2; MMP-20"
                     /inference="alignment:Splign:2.1.0"
     exon            1104..1260
                     /gene="MMP20"
                     /gene_synonym="AI2A2; MMP-20"
                     /inference="alignment:Splign:2.1.0"
     exon            1261..1364
                     /gene="MMP20"
                     /gene_synonym="AI2A2; MMP-20"
                     /inference="alignment:Splign:2.1.0"
     exon            1365..1959
                     /gene="MMP20"
                     /gene_synonym="AI2A2; MMP-20"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 ctactgtgag gggatgaagg tgctccctgc atctggcctt gctgtcttcc tcatcatggc
       61 tttgaagttt tccactgcag ccccctccct agttgcagcc tcccccagga cctggaggaa
      121 caactaccgc ctcgcacagg cgtatcttga caaatattac acaaataaag aaggacacca
      181 gattggtgag atggttgcaa gaggaagcaa ttccatgata aggaagatta aggagctaca
      241 agcgttcttt ggcctccaag tcaccgggaa gttagaccag accacaatga acgtgatcaa
      301 gaagcctcgc tgtggagttc ctgatgtggc caattatcgc ctcttccctg gtgaacccaa
      361 atggaaaaaa aatactttga catacagaat atctaaatac acaccttcca tgagttctgt
      421 cgaggtggac aaagcagtgg agatggcctt gcaggcctgg agtagcgccg tccctctgag
      481 ctttgtcaga ataaactcag gagaagcgga tattatgata tcttttgaaa atggagatca
      541 cggggattcc tatccattcg atgggcctcg ggggactcta gcccatgcat ttgctcctgg
      601 agaaggcctg ggaggagata cacatttcga caatgctgag aagtggacta tgggaacgaa
      661 tggttttaat ttgtttaccg ttgctgctca tgaatttggc catgccctgg gcctggccca
      721 ttccacagac ccatcagcac tgatgtaccc aacttataag tacaagaatc cctatggatt
      781 ccacctcccc aaagatgatg tgaaagggat ccaggcatta tacggacctc ggaaagtatt
      841 cctggggaag cccactctgc cccatgcccc ccatcacaag ccatccatcc ctgacctctg
      901 tgactccagc tcatcctttg acgctgtgac aatgctgggg aaggagctcc tgctcttcaa
      961 ggaccggatt ttctggagac ggcaggttca cttgcggaca ggaattcggc ccagcactat
     1021 taccagctcc ttcccccagc tcatgtccaa tgtggatgca gcttacgaag tggctgagag
     1081 gggcactgct tacttcttca aaggtcccca ctactggata acaagaggat tccaaatgca
     1141 aggtcctcct cggactattt atgactttgg atttccaagg cacgtgcagc aaatagatgc
     1201 tgctgtctac ctcagggagc cacagaagac ccttttcttt gtgggagatg aatactacag
     1261 ctacgacgaa aggaaaagga aaatggaaaa agactatcca aagaatactg aagaagaatt
     1321 ttcaggagta aatggccaaa tcgatgctgc tgtagaatta aatggctaca tttacttctt
     1381 ttcaggacca aaaacataca agtatgacac agagaaggaa gatgtggtta gtgtggtgaa
     1441 atctagttcc tggattggtt gctaaataga aaagcctagt cttctcaagc aatgaggatg
     1501 actacaagca gcctctaact ggatcttaag gactaaagca gaatgtagga gagggattct
     1561 tccaaaggcc ttcaaatcaa attagaattc actgagaata ataatacttc caattttttt
     1621 catagttgta taatcagaat ttcaatccac attagaaaag tttttatatg ggcaacttta
     1681 tgcgaaatcc aaatcaacac aatgcactct gcagttagac accattattt tttcttacct
     1741 aatatactga agcagattga tccgtttgat ttttatttcc aggaggaaga ctagtggtgg
     1801 attccatgac atatattgta attcttttca taggaaatgt cattacagta tgaattataa
     1861 ttatttacaa gcaatggctt ttgtggccat catttggcca tcatttgtta taataaatat
     1921 aaatttccca atttttactt aaaagacatc acaacaaaa
//
