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MMP19 matrix metallopeptidase 19 [ Homo sapiens (human) ]

Gene ID: 4327, updated on 22-May-2018
Official Symbol
MMP19provided by HGNC
Official Full Name
matrix metallopeptidase 19provided by HGNC
Primary source
HGNC:HGNC:7165
See related
Ensembl:ENSG00000123342 MIM:601807; Vega:OTTHUMG00000170216
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
See MMP19 in Genome Data Viewer
Location:
12q13.2
Exon count:
9
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 12 NC_000012.12 (55835430..55842983, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (56229214..56236767, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene growth differentiation factor 11 Neighboring gene SAP domain containing ribonucleoprotein Neighboring gene ORMDL sphingolipid biosynthesis regulator 2 Neighboring gene DnaJ heat shock protein family (Hsp40) member C14 Neighboring gene transmembrane protein 198B (pseudogene) Neighboring gene RNA, 7SL, cytoplasmic 676, pseudogene Neighboring gene Obg-like ATPase 1 pseudogene 3

  • Project title: 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • Collagen degradation, organism-specific biosystem (from REACTOME)
    Collagen degradation, organism-specific biosystemCollagen fibril diameter and spatial organisation are dependent on the species, tissue type and stage of development (Parry 1988). The lengths of collagen fibrils in mature tissues are largely unknow...
  • Degradation of the extracellular matrix, organism-specific biosystem (from REACTOME)
    Degradation of the extracellular matrix, organism-specific biosystemMatrix metalloproteinases (MMPs), previously referred to as matrixins because of their role in degradation of the extracellular matrix (ECM), are zinc and calcium dependent proteases belonging to the...
  • Extracellular matrix organization, organism-specific biosystem (from REACTOME)
    Extracellular matrix organization, organism-specific biosystemThe extracellular matrix is a component of all mammalian tissues, a network consisting largely of the fibrous proteins collagen, elastin and associated-microfibrils, fibronectin and laminins embedded...
  • Matrix Metalloproteinases, organism-specific biosystem (from WikiPathways)
    Matrix Metalloproteinases, organism-specific biosystemMatrix metalloproteinases (MMPs) are zinc-dependent endopeptidases; other family members are adamalysins, serralysins, and astacins. The MMPs belong to a larger family of proteases known as the metzi...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
metalloendopeptidase activity EXP
Inferred from Experiment
more info
PubMed 
metalloendopeptidase activity TAS
Traceable Author Statement
more info
 
serine-type endopeptidase activity TAS
Traceable Author Statement
more info
 
zinc ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
angiogenesis IEA
Inferred from Electronic Annotation
more info
 
cell differentiation IEA
Inferred from Electronic Annotation
more info
 
collagen catabolic process IEA
Inferred from Electronic Annotation
more info
 
extracellular matrix disassembly TAS
Traceable Author Statement
more info
 
luteolysis IEA
Inferred from Electronic Annotation
more info
 
ovarian follicle development IEA
Inferred from Electronic Annotation
more info
 
ovulation from ovarian follicle IEA
Inferred from Electronic Annotation
more info
 
proteolysis NAS
Non-traceable Author Statement
more info
PubMed 
response to cAMP IEA
Inferred from Electronic Annotation
more info
 
response to hormone IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
extracellular matrix NAS
Non-traceable Author Statement
more info
PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
Preferred Names
matrix metalloproteinase-19
Names
matrix metalloproteinase RASI
matrix metalloproteinase-18
matrix metalloproteinase-beta19

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_042870.1 RefSeqGene

    Range
    5001..12554
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001272101.1NP_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, AK303202, AL545199, U37791
    Consensus CDS
    CCDS61146.1
    UniProtKB/Swiss-Prot
    Q99542
    Related
    ENSP00000386625.3, OTTHUMP00000243266, ENST00000409200.7, OTTHUMT00000408026
    Conserved Domains (3) summary
    pfam00413
    Location:103174
    Peptidase_M10; Matrixin
    pfam01471
    Location:3180
    PG_binding_1; Putative peptidoglycan binding domain
    cl00064
    Location:103174
    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_002429.5NP_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, AL545199, BC050368, U37791
    Consensus CDS
    CCDS8895.1
    UniProtKB/Swiss-Prot
    Q99542
    Related
    ENSP00000313437.4, OTTHUMP00000243264, ENST00000322569.8, OTTHUMT00000408023
    Conserved Domains (3) summary
    cd00094
    Location:286472
    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:103256
    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:3180
    PG_binding_1; Putative peptidoglycan binding domain

RNA

  1. NR_073606.1 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, AL545199, U37791, U38431

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p12 Primary Assembly

    Range
    55835430..55842983 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006719401.3XP_006719464.1  matrix metalloproteinase-19 isoform X4

    Conserved Domains (2) summary
    cd00094
    Location:57243
    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 ...
    cl00064
    Location:127
    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. XM_011538359.1XP_011536661.1  matrix metalloproteinase-19 isoform X1

    Conserved Domains (4) summary
    cd00094
    Location:204390
    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 ...
    pfam00413
    Location:103174
    Peptidase_M10; Matrixin
    pfam01471
    Location:3180
    PG_binding_1; Putative peptidoglycan binding domain
    cl00064
    Location:103174
    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 ...
  3. XM_017019309.1XP_016874798.1  matrix metalloproteinase-19 isoform X3

  4. XM_017019308.1XP_016874797.1  matrix metalloproteinase-19 isoform X2

RNA

  1. XR_944553.1 RNA Sequence

  2. XR_429102.2 RNA Sequence

    Related
    ENST00000552872.5, OTTHUMT00000408024

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.
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