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MMP19 matrix metallopeptidase 19 [ Homo sapiens (human) ]

Gene ID: 4327, updated on 2-Nov-2024

Summary

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Official Symbol
MMP19provided by HGNC
Official Full Name
matrix metallopeptidase 19provided by HGNC
Primary source
HGNC:HGNC:7165
See related
Ensembl:ENSG00000123342 MIM:601807; AllianceGenome:HGNC:7165
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CODA; MMP18; RASI-1
Summary
This gene encodes a member of a family of proteins that 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. The encoded protein is secreted as an inactive proprotein, which is activated upon cleavage by extracellular proteases. Alternative splicing results in multiple transcript variants for this gene. [provided by RefSeq, Jan 2013]
Expression
Broad expression in gall bladder (RPKM 58.3), appendix (RPKM 21.2) and 19 other tissues See more
Orthologs
mouse all
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Genomic context

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See MMP19 in Genome Data Viewer
Location:
12q13.2
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (55835433..55842936, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (55802080..55809587, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (56229217..56236720, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene growth differentiation factor 11 Neighboring gene SAP domain containing ribonucleoprotein Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:56192003-56192504 Neighboring gene ORMDL sphingolipid biosynthesis regulator 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4538 Neighboring gene DnaJ heat shock protein family (Hsp40) member C14 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:56223947-56224684 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6460 Neighboring gene transmembrane protein 198B (pseudogene) Neighboring gene RNA, 7SL, cytoplasmic 676, pseudogene Neighboring gene OLA1 pseudogene 3

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Matrix metalloproteinase-19 is a predictive marker for tumor invasiveness in patients with oropharyngeal squamous cell carcinoma. Velinov N, et al. Int J Biol Markers, 2007 Oct-Dec. PMID 18161657
  2. The gene expression profile of matrix metalloproteinases and their inhibitors in children with Henoch-Schönlein purpura. Shin JI, et al. Br J Dermatol, 2011 Jun. PMID 21410660
  3. Diverse patterns of cyclooxygenase-independent metalloproteinase gene regulation in human monocytes. Reel B, et al. Br J Pharmacol, 2011 Aug. PMID 21371008, Free PMC Article
  4. Matrix metalloproteinase-β19 expressed in cerebral amyloid angiopathy. Tanskanen M, et al. Amyloid, 2011 Mar. PMID 21261556
  5. Catalytic activity of Matrix metalloproteinase-19 is essential for tumor suppressor and anti-angiogenic activities in nasopharyngeal carcinoma. Chan KC, et al. Int J Cancer, 2011 Oct 15. PMID 21165953

See all (73) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. MMP19 Variants in Familial and Sporadic Idiopathic Pulmonary Fibrosis.
    Title: MMP19 Variants in Familial and Sporadic Idiopathic Pulmonary Fibrosis.
  2. Endothelial cell-derived MMP19 promotes pulmonary fibrosis by inducing E(nd)MT and monocyte infiltration.
    Title: Endothelial cell-derived MMP19 promotes pulmonary fibrosis by inducing E(nd)MT and monocyte infiltration.
  3. Potential novel markers in IBD and CRC diagnostics. Are MMP-19 and RAGE promising candidates?
    Title: Potential novel markers in IBD and CRC diagnostics. Are MMP-19 and RAGE promising candidates?
  4. Long noncoding RNA ZEB1-AS1 affects paclitaxel and cisplatin resistance by regulating MMP19 in epithelial ovarian cancer cells.
    Title: Long noncoding RNA ZEB1-AS1 affects paclitaxel and cisplatin resistance by regulating MMP19 in epithelial ovarian cancer cells.
  5. MicroRNA-16 inhibits the proliferation, migration and invasion of non-small cell lung carcinoma cells by down-regulating matrix metalloproteinase-19 expression.
    Title: MicroRNA-16 inhibits the proliferation, migration and invasion of non-small cell lung carcinoma cells by down-regulating matrix metalloproteinase-19 expression.
  6. Study found that the expression of MMP19 was upregulated in colorectal cancer (CRC). High expression of MMP19 was determined to be an independent and poor prognostic factor in CRC. These results suggest that MMP19 may be a good biomarker for CRC.
    Title: High expression of MMP19 is associated with poor prognosis in patients with colorectal cancer.
  7. MiR-193b-3p is an important regulator of MMP-19 in human chondrocytes and may relieve the inflammatory response in OA.
    Title: MicroRNA-193b-3p regulates matrix metalloproteinase 19 expression in interleukin-1β-induced human chondrocytes.
  8. Levels of matrix metalloproteinases MMP-19 and MMP-20 expression are significantly increased in pancreatic ductal adenocarcinoma (PDAC).
    Title: High-Level Expression and Prognostic Significance of Matrix Metalloprotease-19 and Matrix Metalloprotease-20 in Human Pancreatic Ductal Adenocarcinoma.
  9. transcriptional target of ligand-bound activated estrogen receptor beta acting on a specificity protein-1 binding site
    Title: Estrogen receptor β controls MMP-19 expression in mouse ovaries during ovulation.
  10. the downregulation of MMP19 following respiratory syncytial virus infection may be associated with the development of airway hyperresponsiveness.
    Title: Downregulation of matrix metalloproteinase‑19 induced by respiratory syncytial viral infection affects the interaction between epithelial cells and fibroblasts.
Submit: New GeneRIF Correction See all GeneRIFs (33)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Familial cavitary optic disk anomaly
MedGen: C1969063 OMIM: 611543 GeneReviews: Not available
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables metalloendopeptidase activity EXP
Inferred from Experiment
more info
 PubMed 
enables metalloendopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables metalloendopeptidase activity TAS
Traceable Author Statement
more info
  
enables serine-type endopeptidase activity TAS
Traceable Author Statement
more info
  
enables zinc ion binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in angiogenesis IEA
Inferred from Electronic Annotation
more info
  
involved_in cell differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in collagen catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in extracellular matrix disassembly TAS
Traceable Author Statement
more info
  
involved_in extracellular matrix organization IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in proteolysis NAS
Non-traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
located_in extracellular matrix NAS
Non-traceable Author Statement
more info
 PubMed 
located_in extracellular region TAS
Traceable Author Statement
more info
  
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
matrix metalloproteinase-19
Names
matrix metalloproteinase RASI
matrix metalloproteinase-18
matrix metalloproteinase-beta19

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_042870.2 RefSeqGene

    Range
    5000..12503
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001272101.2 → NP_001259030.1  matrix metalloproteinase-19 isoform 3 preproprotein

    See identical proteins and their annotated locations for NP_001259030.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) contains multiple differences in the coding region, compared to variant 1, one of which results in a frameshift. The encoded isoform (3) is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AC023055
    Consensus CDS
    CCDS61146.1
    UniProtKB/Swiss-Prot
    Q99542
    Related
    ENSP00000386625.3, ENST00000409200.7
    Conserved Domains (3) summary
    pfam00413
    Location:103 → 174
    Peptidase_M10; Matrixin
    pfam01471
    Location:31 → 80
    PG_binding_1; Putative peptidoglycan binding domain
    cl00064
    Location:103 → 174
    ZnMc; Zinc-dependent metalloprotease. This super-family of metalloproteases contains two major branches, the astacin-like proteases and the adamalysin/reprolysin-like proteases. Both branches have wide phylogenetic distribution, and contain sub-families, which ...

  2. NM_001414375.1 → NP_001401304.1  matrix metalloproteinase-19 isoform 4 preproprotein

    Status: REVIEWED

    Source sequence(s)
    AC023055

  3. NM_002429.6 → NP_002420.1  matrix metalloproteinase-19 isoform 1 preproprotein

    See identical proteins and their annotated locations for NP_002420.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1, also known as rasi-1).
    Source sequence(s)
    AC023055
    Consensus CDS
    CCDS8895.1
    UniProtKB/Swiss-Prot
    B4E030, O15278, O95606, Q99542, Q99580
    UniProtKB/TrEMBL
    F8W1C3
    Related
    ENSP00000313437.4, ENST00000322569.9
    Conserved Domains (3) summary
    cd00094
    Location:286 → 472
    HX; Hemopexin-like repeats.; Hemopexin is a heme-binding protein that transports heme to the liver. Hemopexin-like repeats occur in vitronectin and some matrix metalloproteinases family (matrixins). The HX repeats of some matrixins bind tissue inhibitor of ...
    cd04278
    Location:103 → 256
    ZnMc_MMP; Zinc-dependent metalloprotease, matrix metalloproteinase (MMP) sub-family. MMPs are responsible for a great deal of pericellular proteolysis of extracellular matrix and cell surface molecules, playing crucial roles in morphogenesis, cell fate ...
    pfam01471
    Location:31 → 80
    PG_binding_1; Putative peptidoglycan binding domain

RNA

  1. NR_073606.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) uses two alternate splice sites at internal exons, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC023055

  2. NR_182299.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC023055

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    55835433..55842936 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047428863.1 → XP_047284819.1  matrix metalloproteinase-19 isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    55802080..55809587 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054372076.1 → XP_054228051.1  matrix metalloproteinase-19 isoform X1

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001032360.1: Suppressed sequence

    Description
    NM_001032360.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.

  2. NM_022790.1: Suppressed sequence

    Description
    NM_022790.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.

  3. NM_022792.2: Suppressed sequence

    Description
    NM_022792.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q99542.1 GenPept UniProtKB/Swiss-Prot:Q99542

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