MMP1 matrix metallopeptidase 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MMP1provided by HGNC
Official Full Name: matrix metallopeptidase 1provided by HGNC
Primary source: HGNC:HGNC:7155
See related: Ensembl:ENSG00000196611 MIM:120353; AllianceGenome:HGNC:7155
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: CLG; CLGN
Summary: This gene encodes a member of the peptidase M10 family of matrix metalloproteinases (MMPs). Proteins in this 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. The encoded preproprotein is proteolytically processed to generate the mature protease. This secreted protease breaks down the interstitial collagens, including types I, II, and III. The gene is part of a cluster of MMP genes on chromosome 11. Mutations in this gene are associated with chronic obstructive pulmonary disease (COPD). Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 2016]
Expression: Biased expression in gall bladder (RPKM 49.1), appendix (RPKM 17.7) and 7 other tissues See more
Orthologs: all
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Genomic context

Location:: 11q22.2

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (102789919..102798160, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (102793739..102801980, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (102660650..102668891, complement)

Chromosome 11 - NC_000011.10 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?

AGBL4 promotes malignant progression of glioblastoma via modulation of MMP-1 and inflammatory pathways.
Title: AGBL4 promotes malignant progression of glioblastoma via modulation of MMP-1 and inflammatory pathways.
MMP1, MMP9, MMP11 and MMP13 in melanoma and its metastasis - key points in understanding the mechanisms and celerity of tumor dissemination.
Title: MMP1, MMP9, MMP11 and MMP13 in melanoma and its metastasis - key points in understanding the mechanisms and celerity of tumor dissemination.
Elevated MMP1 Expression in Carcinoma-Associated Fibroblasts of Breast Cancer Contributes to Tumor Progression and Unfavorable Prognosis.
Title: Elevated MMP1 Expression in Carcinoma-Associated Fibroblasts of Breast Cancer Contributes to Tumor Progression and Unfavorable Prognosis.
A decrease of mitochondrial ubiquitin ligase increases the secretion of matrix metalloproteinase-1 by dermal fibroblasts through the induction of ER stress.
Title: A decrease of mitochondrial ubiquitin ligase increases the secretion of matrix metalloproteinase-1 by dermal fibroblasts through the induction of ER stress.
Association of Matrix Metalloproteinase-1 Promoter Polymorphisms With Asthma Risk.
Title: Association of Matrix Metalloproteinase-1 Promoter Polymorphisms With Asthma Risk.
N-acetyltransferase 10 promotes the progression of oral squamous cell carcinoma through N4-acetylcytidine RNA acetylation of MMP1 mRNA.
Title: N-acetyltransferase 10 promotes the progression of oral squamous cell carcinoma through N4-acetylcytidine RNA acetylation of MMP1 mRNA.
Increased Matrix Metalloproteinase-1 Activation Enhances Disruption and Regression of k-RasV12-Expressing Arteriovenous Malformation-Like Vessels.
Title: Increased Matrix Metalloproteinase-1 Activation Enhances Disruption and Regression of k-RasV12-Expressing Arteriovenous Malformation-Like Vessels.
Involvement of matrix metalloproteinase 1 and urokinase-type plasminogen activator in the PKCalpha-p38 MAPK pathway-mediated progression of human liver cancer cells.
Title: Involvement of matrix metalloproteinase 1 and urokinase-type plasminogen activator in the PKCα-p38 MAPK pathway-mediated progression of human liver cancer cells.
Mechanism of the Early Catalytic Events in the Collagenolysis by Matrix Metalloproteinase-1.
Title: Mechanism of the Early Catalytic Events in the Collagenolysis by Matrix Metalloproteinase-1.
Genetic screening of MMP1 as a potential pathogenic gene in chronic obstructive pulmonary disease.
Title: Genetic screening of MMP1 as a potential pathogenic gene in chronic obstructive pulmonary disease.

Submit: New GeneRIF Correction See all GeneRIFs (842)

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
COPD, severe early onset MedGen: C1847014 GeneReviews: Not available	Compare labs
Recessive dystrophic epidermolysis bullosa MedGen: C0079474 OMIM: 226600 GeneReviews: Dystrophic Epidermolysis Bullosa	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)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	Treatment of human hepatic stellate cells with gp120 significantly increases secretion and gene expression of CCL2, metalloprotease-1 and interleukin-6. Gp120 also induces activation of Akt, NF-kappaB, and p38(MAPK)	PubMed
	env	CXCR4-tropic and CXCR4/CCR5 dual-tropic HIV-1 gp120 induce the cleavage of CD62 ligand by a mechanism dependent on matrix metalloproteinases 1 and 3, CD4, CXCR4, Galpha(i), and p38 MAPK, whereas CCR5-tropic gp120 does not	PubMed
Envelope transmembrane glycoprotein gp41	env	HIV-1 gp41 upregulates MMP-1 expression in human PBMCs. Mutation Q577A impairs gp41-mediated upregulation of MMP-1	PubMed
Tat	tat	HIV-1 Tat and methamphetamine enhance the release of MMP-1, MMP-2, and uPA from human brain cells	PubMed
	tat	MMP-1 can degrade HIV-1 Tat and this effect is blocked by MMP-1 inhibitors.	PubMed
	tat	Through the activation of membrane-type-1-matrix-metalloproteinase (MMP-1) and the induction of tissue inhibitor of metalloproteinase-2 (TIMP-2), HIV-1 Tat and bFGF synergize to upregulate MMP-2 secretion and activation in endothelial cells	PubMed
Vpr	vpr	A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies downregulation of matrix metallopeptidase 1 (MMP1, interstitial collagenase) expression by HIV-1 Vpr in Vpr transduced macrophages	PubMed

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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

MMP1_3098 (e-PCR)
- UniSTS:462345

MMP1 (e-PCR)
- UniSTS:273431

PMC65699P1 (e-PCR)
- UniSTS:273431

G54104 (e-PCR)
- UniSTS:109341

MMP1 (e-PCR)
- UniSTS:253988

MMP1 (e-PCR)
- UniSTS:6181

PMC151710P3 (e-PCR)
- UniSTS:271169

PMC151710P4 (e-PCR)
- UniSTS:271170

GDB:197898 (e-PCR)
- UniSTS:155992

SHGC-82595 (e-PCR)
- UniSTS:100717

SHGC-11954 (e-PCR)
- UniSTS:21418

PMC125702P3 (e-PCR)
- UniSTS:270509

PMC125702P5 (e-PCR)
- UniSTS:270511

RH17661 (e-PCR)
- UniSTS:47569

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables endopeptidase activity	IDA Inferred from Direct Assay more info	PubMed
enables metalloendopeptidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables metalloendopeptidase activity	IDA Inferred from Direct Assay more info	PubMed
enables metalloendopeptidase activity	TAS Traceable Author Statement more info
enables peptidase activity	IDA Inferred from Direct Assay more info	PubMed
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 cellular response to UV-A	IDA Inferred from Direct Assay more info	PubMed
involved_in collagen catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in collagen catabolic process	TAS Traceable Author Statement 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 positive regulation of protein-containing complex assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in proteolysis	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in extracellular matrix	IEA Inferred from Electronic Annotation more info
located_in extracellular region	TAS Traceable Author Statement more info

General protein information

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Preferred Names: interstitial collagenase

Names: fibroblast collagenase; matrix metallopeptidase 1 (interstitial collagenase); matrix metalloprotease 1

NP_001139410.1

EC 3.4.24.7

NP_002412.1

EC 3.4.24.7

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_011740.2 RefSeqGene

Range

5076..13317

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001145938.2 → NP_001139410.1 interstitial collagenase isoform 2

See identical proteins and their annotated locations for NP_001139410.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region and uses a downstream start codon compared to variant 1. The resulting protein (isoform 2) has a shorter N-terminus compared to isoform 1.

Source sequence(s)

AK297723, AP000619

UniProtKB/TrEMBL

B4DN15, Q53G75

Conserved Domains (4) summary

cd00094
Location:209 → 400

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:42 → 195

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 ...

pfam00413
Location:42 → 195

Peptidase_M10; Matrixin

pfam01471
Location:1 → 21

PG_binding_1; Putative peptidoglycan binding domain
NM_002421.4 → NP_002412.1 interstitial collagenase isoform 1 preproprotein

See identical proteins and their annotated locations for NP_002412.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AP000619, BC013875, DC385245

Consensus CDS

CCDS8322.1

UniProtKB/Swiss-Prot

P03956, P08156

UniProtKB/TrEMBL

Q53FK3, Q53G96, Q5TZP0

Related

ENSP00000322788.6, ENST00000315274.7

Conserved Domains (3) summary

cd00094
Location:275 → 466

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:108 → 261

Peptidase_M10; Matrixin

pfam01471
Location:27 → 87

PG_binding_1; Putative peptidoglycan binding domain