MMP19 matrix metallopeptidase 19 [Homo sapiens (human)] - Gene

Summary

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

Location:: 12q13.2

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (55835433..55842936, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (55802080..55809587, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (56229217..56236720, complement)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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 Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

MMP19 Variants in Familial and Sporadic Idiopathic Pulmonary Fibrosis.
Title: MMP19 Variants in Familial and Sporadic Idiopathic Pulmonary Fibrosis.
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.
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?
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.
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.
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.
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.
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.
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.
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	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

A005E01 (e-PCR)
- UniSTS:8211

D12S2129 (e-PCR)
- UniSTS:81952

RH65857 (e-PCR)
- UniSTS:33084

SHGC-142692 (e-PCR)
- UniSTS:171596

RH80350 (e-PCR)
- UniSTS:84581

SHGC-37198 (e-PCR)
- UniSTS:41361

MMP19 (e-PCR)
- UniSTS:504050

WI-20946 (e-PCR)
- UniSTS:64503

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

NG_042870.2 RefSeqGene

Range

5000..12503

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Status: REVIEWED

Source sequence(s)

AC023055
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

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
NR_182299.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC023055

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000012.12 Reference GRCh38.p14 Primary Assembly

Range

55835433..55842936 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Alternate T2T-CHM13v2.0

Genomic

NC_060936.1 Alternate T2T-CHM13v2.0

Range

55802080..55809587 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_001032360.1: Suppressed sequence

Description

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