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MMP1 matrix metallopeptidase 1 [ Homo sapiens (human) ]

Gene ID: 4312, updated on 10-Dec-2024

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
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Genomic context

See MMP1 in Genome Data Viewer
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_000011.10Genomic Context describing neighboring genes Neighboring gene sacsin molecular chaperone pseudogene Neighboring gene matrix metallopeptidase 10 Neighboring gene WTAP pseudogene 1 Neighboring gene casein kinase 1 alpha 1 pseudogene 2 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:102703620-102703825 Neighboring gene NANOG hESC enhancer GRCh37_chr11:102707201-102707702 Neighboring gene matrix metallopeptidase 3

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-1 interactions

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

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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

Preferred Names
interstitial collagenase
Names
fibroblast collagenase
matrix metallopeptidase 1 (interstitial collagenase)
matrix metalloprotease 1
NP_001139410.1
NP_002412.1

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_011740.2 RefSeqGene

    Range
    5076..13317
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001145938.2NP_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:209400
    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:42195
    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:42195
    Peptidase_M10; Matrixin
    pfam01471
    Location:121
    PG_binding_1; Putative peptidoglycan binding domain
  2. NM_002421.4NP_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:275466
    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:108261
    Peptidase_M10; Matrixin
    pfam01471
    Location:2787
    PG_binding_1; Putative peptidoglycan binding domain

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_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    102789919..102798160 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    102793739..102801980 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)