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Aliases for MMP1 Gene

Aliases for MMP1 Gene

  • Matrix Metallopeptidase 1 2 3 5
  • Interstitial Collagenase 2 3
  • Fibroblast Collagenase 3 4
  • EC 3.4.24.7 4 61
  • CLG 3 4
  • Matrix Metalloproteinase 1 (Interstitial Collagenase) 2
  • Matrix Metallopeptidase 1 (Interstitial Collagenase) 3
  • Matrix Metalloproteinase 1 3
  • Matrix Metalloproteinase-1 4
  • Matrix Metalloprotease 1 3
  • EC 3.4.24 61
  • MMP-1 4
  • CLGN 3

External Ids for MMP1 Gene

Previous HGNC Symbols for MMP1 Gene

  • CLG

Previous GeneCards Identifiers for MMP1 Gene

  • GC11M104854
  • GC11M104017
  • GC11M102694
  • GC11M102198
  • GC11M102165
  • GC11M102660
  • GC11M098588

Summaries for MMP1 Gene

Entrez Gene Summary for MMP1 Gene

  • 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]

GeneCards Summary for MMP1 Gene

MMP1 (Matrix Metallopeptidase 1) is a Protein Coding gene. Diseases associated with MMP1 include Epidermolysis Bullosa Dystrophica, Ar and Pulmonary Disease, Chronic Obstructive. Among its related pathways are Cell adhesion_Cell-matrix glycoconjugates and Integrated Breast Cancer Pathway. GO annotations related to this gene include calcium ion binding and metallopeptidase activity. An important paralog of this gene is MMP8.

UniProtKB/Swiss-Prot for MMP1 Gene

  • Cleaves collagens of types I, II, and III at one site in the helical domain. Also cleaves collagens of types VII and X. In case of HIV infection, interacts and cleaves the secreted viral Tat protein, leading to a decrease in neuronal Tats mediated neurotoxicity.

Tocris Summary for MMP1 Gene

  • Matrix metalloproteases (matrix metalloproteinase, MMPs), also called matrixins, are zinc-dependent endopeptidases and the major proteases in ECM degradation. MMPs are capable of degrading several extracellular molecules and a number of bioactive molecules.

Gene Wiki entry for MMP1 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MMP1 Gene

Genomics for MMP1 Gene

Regulatory Elements for MMP1 Gene

Enhancers for MMP1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11F102797 1 FANTOM5 Ensembl ENCODE 35 -2.0 -2002 5.6 BHLHE40 CEBPB SIN3A MAX JUND POLR2A FOS NFE2L2 MMP1 MMP27 CSNK1A1P2
GH11F102830 0.5 Ensembl ENCODE 19.6 -33.7 -33651 1.8 CTCF NRF1 NBN SMC3 RAD21 YY1 MMP1 RNU7-159P MMP13 MMP3 PIR58757
GH11F102836 0.2 Ensembl 14.5 -38.3 -38266 0.2 TBP JUND ZNF701 EP300 MMP1 BIRC2 RNU7-159P MMP3 PIR58757
GH11F102837 0.6 ENCODE 14.5 -38.5 -38470 0.2 TBP JUND ZNF701 EP300 MMP1 BIRC2 RNU7-159P MMP3 PIR58757
GH11F102759 1.1 FANTOM5 Ensembl ENCODE 11.2 +36.3 36302 4.3 MXI1 SAP130 JUN TEAD4 PLRG1 YY1 RFX5 RARA HIC1 ZNF366 MMP1 MMP8 DYNC2H1 MMP3 MMP27 MMP7 BIRC2 ENSG00000225678 LOC100421658
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around MMP1 on UCSC Golden Path with GeneCards custom track

Genomic Location for MMP1 Gene

Chromosome:
11
Start:
102,789,910 bp from pter
End:
102,798,235 bp from pter
Size:
8,326 bases
Orientation:
Minus strand

Genomic View for MMP1 Gene

Genes around MMP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MMP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MMP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MMP1 Gene

Proteins for MMP1 Gene

  • Protein details for MMP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P03956-MMP1_HUMAN
    Recommended name:
    Interstitial collagenase
    Protein Accession:
    P03956
    Secondary Accessions:
    • P08156

    Protein attributes for MMP1 Gene

    Size:
    469 amino acids
    Molecular mass:
    54007 Da
    Cofactor:
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    • Interacts with HIV-1 Tat.

    Three dimensional structures from OCA and Proteopedia for MMP1 Gene

neXtProt entry for MMP1 Gene

Selected DME Specific Peptides for MMP1 Gene

P03956:
  • DNSPFDG
  • GHSLGLSHSTD
  • FFHGTRQY
  • WSNVTPL
  • PRCGVPD
  • WRYDEYK
  • EVELNFISVFWP
  • RDEVRFFKGNKYWAV
  • LAHAFQPG
  • LTFDAIT
  • EKLKQMQ
  • MFFKDRFYMR
  • RQYKFDP
  • PGPGIGGD
  • ETQEQDV
  • HSTDIGALMYP

Post-translational modifications for MMP1 Gene

  • Tyrosine phosphorylated in platelets by PKDCC/VLK.
  • Undergoes autolytic cleavage to two major forms (22 kDa and 27 kDa). A minor form (25 kDa) is the glycosylated form of the 22 kDa form. The 27 kDa form has no activity while the 22/25 kDa form can act as activator for collagenase.
  • Glycosylation at Asn 120
  • Modification sites at PhosphoSitePlus

Other Protein References for MMP1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

Protein Products

  • Abcam proteins for MMP1

Domains & Families for MMP1 Gene

Gene Families for MMP1 Gene

Suggested Antigen Peptide Sequences for MMP1 Gene

Graphical View of Domain Structure for InterPro Entry

P03956

UniProtKB/Swiss-Prot:

MMP1_HUMAN :
  • There are two distinct domains in this protein; the catalytic N-terminal, and the C-terminal which is involved in substrate specificity and in binding TIMP (tissue inhibitor of metalloproteinases).
  • Belongs to the peptidase M10A family.
  • Contains 4 hemopexin repeats.
Domain:
  • There are two distinct domains in this protein; the catalytic N-terminal, and the C-terminal which is involved in substrate specificity and in binding TIMP (tissue inhibitor of metalloproteinases).
  • The conserved cysteine present in the cysteine-switch motif binds the catalytic zinc ion, thus inhibiting the enzyme. The dissociation of the cysteine from the zinc ion upon the activation-peptide release activates the enzyme.
Family:
  • Belongs to the peptidase M10A family.
Similarity:
  • Contains 4 hemopexin repeats.
genes like me logo Genes that share domains with MMP1: view

Function for MMP1 Gene

Molecular function for MMP1 Gene

GENATLAS Biochemistry:
matrix metalloproteinase 1,regulator of matrix remodeling component of the MMP cluster,prognostic factor in case of advanced gastric and ovarian cancers,activated by host/tumor cell interaction and mediating the invasive/metastatic behavior of tumor cells through invasion of type I collagen,overexpressed in inflammatory bowel diseases
UniProtKB/Swiss-Prot CatalyticActivity:
Cleavage of the triple helix of collagen at about three-quarters of the length of the molecule from the N-terminus, at 775-Gly- -Ile-776 in the alpha-1(I) chain. Cleaves synthetic substrates and alpha-macroglobulins at bonds where P1 is a hydrophobic residue.
UniProtKB/Swiss-Prot EnzymeRegulation:
Can be activated without removal of the activation peptide.
UniProtKB/Swiss-Prot Function:
Cleaves collagens of types I, II, and III at one site in the helical domain. Also cleaves collagens of types VII and X. In case of HIV infection, interacts and cleaves the secreted viral Tat protein, leading to a decrease in neuronal Tats mediated neurotoxicity.

Enzyme Numbers (IUBMB) for MMP1 Gene

Gene Ontology (GO) - Molecular Function for MMP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004175 endopeptidase activity IDA 19022250
GO:0004222 metalloendopeptidase activity IEA,TAS --
GO:0004252 serine-type endopeptidase activity TAS --
GO:0005509 calcium ion binding IEA --
GO:0008233 peptidase activity IEA --
genes like me logo Genes that share ontologies with MMP1: view
genes like me logo Genes that share phenotypes with MMP1: view

Human Phenotype Ontology for MMP1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MMP1 Gene

MGI Knock Outs for MMP1:

Animal Model Products

miRNA for MMP1 Gene

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for MMP1 Gene

Localization for MMP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MMP1 Gene

Secreted, extracellular space, extracellular matrix.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MMP1 Gene COMPARTMENTS Subcellular localization image for MMP1 gene
Compartment Confidence
extracellular 5
plasma membrane 3
cytoskeleton 2
nucleus 2
vacuole 2
cytosol 1
endoplasmic reticulum 1
golgi apparatus 1
lysosome 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for MMP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA,TAS --
GO:0005578 proteinaceous extracellular matrix IEA --
GO:0031012 extracellular matrix IEA --
genes like me logo Genes that share ontologies with MMP1: view

Pathways & Interactions for MMP1 Gene

genes like me logo Genes that share pathways with MMP1: view

Gene Ontology (GO) - Biological Process for MMP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA,IDA 15863497
GO:0016032 viral process IEA --
GO:0022617 extracellular matrix disassembly TAS --
GO:0030574 collagen catabolic process IEA,TAS --
GO:0032461 positive regulation of protein oligomerization IDA 19022250
genes like me logo Genes that share ontologies with MMP1: view

No data available for SIGNOR curated interactions for MMP1 Gene

Drugs & Compounds for MMP1 Gene

(94) Drugs for MMP1 Gene - From: DrugBank, ApexBio, DGIdb, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Marimastat Approved, Investigational Pharma Target, inhibitor MMPs inhibitor,board spectrum 4
Zinc Approved Pharma 2231
Batimastat Experimental Pharma Potent, broad spectrum MMP inhibitor 0
[[1-[N-HYDROXY-ACETAMIDYL]-3-METHYL-BUTYL]-CARBONYL-LEUCINYL]-ALANINE ETHYL ESTER Experimental Pharma Target 0
METHYLAMINO-PHENYLALANYL-LEUCYL-HYDROXAMIC ACID Experimental Pharma Target 0

(61) Additional Compounds for MMP1 Gene - From: Novoseek and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
TMI 1
287403-39-8

(5) Tocris Compounds for MMP1 Gene

Compound Action Cas Number
Batimastat Potent, broad spectrum MMP inhibitor 130370-60-4
GI 254023X Selective ADAM10 metalloprotease inhibitor 260264-93-5
GM 6001 Broad spectrum MMP inhibitor 142880-36-2
TMI 1 Adam 17 (TACE) and MMP inhibitor; orally bioavailable 287403-39-8
WAY 170523 Potent and selective inhibitor of MMP-13 307002-73-9

(8) ApexBio Compounds for MMP1 Gene

Compound Action Cas Number
7-Methoxycoumarin-4-acetyl-P-L-G-L-β-(2,4-dinitrophenylamino)A-R amide Substrate of matrix metalloproteinases assay 140430-53-1
Batimastat (BB-94) MMP inhibitor 130370-60-4
CTS-1027 MMPs inhibitor 193022-04-7
Doxycycline HCl Tetracycline antibiotic;MMP inhibitor;cell selection reagent 10592-13-9
GM 6001 Broad spectrum MMP inhibitor 142880-36-2
Marimastat MMPs inhibitor,board spectrum 154039-60-8
Phosphoramidon Disodium Salt 164204-38-0
Ro 32-3555 MMP inhibitor 190648-49-8
genes like me logo Genes that share compounds with MMP1: view

Drug Products

Transcripts for MMP1 Gene

mRNA/cDNA for MMP1 Gene

(2) REFSEQ mRNAs :
(20) Additional mRNA sequences :
(375) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for MMP1 Gene

Matrix metallopeptidase 1 (interstitial collagenase):
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for MMP1 Gene

No ASD Table

Relevant External Links for MMP1 Gene

GeneLoc Exon Structure for
MMP1
ECgene alternative splicing isoforms for
MMP1

Expression for MMP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MMP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MMP1 Gene

This gene is overexpressed in Small Intestine - Terminal Ileum (x4.0).

Protein differential expression in normal tissues from HIPED for MMP1 Gene

This gene is overexpressed in Urine (25.5), Amniocyte (24.5), and Synovial fluid (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for MMP1 Gene



Protein tissue co-expression partners for MMP1 Gene

NURSA nuclear receptor signaling pathways regulating expression of MMP1 Gene:

MMP1

SOURCE GeneReport for Unigene cluster for MMP1 Gene:

Hs.83169
genes like me logo Genes that share expression patterns with MMP1: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for MMP1 Gene

Orthologs for MMP1 Gene

This gene was present in the common ancestor of animals.

Orthologs for MMP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MMP1 34 35
  • 99.5 (n)
cow
(Bos Taurus)
Mammalia LOC100848085 34
  • 86.36 (n)
MMP1 35 35
  • 85 (a)
OneToMany
dog
(Canis familiaris)
Mammalia LOC489428 34
  • 85.09 (n)
MMP1 35
  • 71 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mmp1a 34 16 35
  • 71.54 (n)
Mmp1b 35
  • 58 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Mmp1 34
  • 70.45 (n)
oppossum
(Monodelphis domestica)
Mammalia MMP1 35
  • 68 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MMP1 35
  • 62 (a)
OneToOne
chicken
(Gallus gallus)
Aves MMP1 34
  • 66.3 (n)
-- 35
  • 59 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 54 (a)
OneToMany
African clawed frog
(Xenopus laevis)
Amphibia mmp1-prov 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7607 34
fruit fly
(Drosophila melanogaster)
Insecta Mmp1 36
  • 38 (a)
worm
(Caenorhabditis elegans)
Secernentea C31B8.8 36
  • 44 (a)
Species where no ortholog for MMP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • zebrafish (Danio rerio)

Evolution for MMP1 Gene

ENSEMBL:
Gene Tree for MMP1 (if available)
TreeFam:
Gene Tree for MMP1 (if available)

Paralogs for MMP1 Gene

(17) SIMAP similar genes for MMP1 Gene using alignment to 4 proteins:

Pseudogenes.org Pseudogenes for MMP1 Gene

genes like me logo Genes that share paralogs with MMP1: view

Variants for MMP1 Gene

Sequence variations from dbSNP and Humsavar for MMP1 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs10488 -- 102,797,291(-) GAGGG(A/G)AACCC intron-variant, reference, synonymous-codon
rs1051121 -- 102,795,242(+) TCACA(C/T)GCTTT intron-variant, reference, synonymous-codon
rs111469912 -- 102,790,624(+) TTTTG(A/G)CATTT intron-variant
rs111822238 -- 102,790,921(+) AGATC(A/G)TTTGT intron-variant
rs11225423 -- 102,791,892(+) AGTGA(A/C)TCATA intron-variant

Variation tolerance for MMP1 Gene

Residual Variation Intolerance Score: 88.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.48; 43.53% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MMP1 Gene

Human Gene Mutation Database (HGMD)
MMP1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MMP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for MMP1 Gene

Disorders for MMP1 Gene

MalaCards: The human disease database

(76) MalaCards diseases for MMP1 Gene - From: OMIM, ClinVar, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
epidermolysis bullosa dystrophica, ar
  • ebd inversa
pulmonary disease, chronic obstructive
  • copd, rate of decline of lung function in
preterm premature rupture of the membranes
  • preterm premature rupture of the membranes, susceptibility to
gingival overgrowth
  • gingival enlargement
localized scleroderma
  • circumscribed scleroderma
- elite association - COSMIC cancer census association via MalaCards
Search MMP1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for MMP1

Genetic Association Database (GAD)
MMP1
Human Genome Epidemiology (HuGE) Navigator
MMP1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MMP1
genes like me logo Genes that share disorders with MMP1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MMP1 Gene

Publications for MMP1 Gene

  1. Genome-wide association scan identifies variants near Matrix Metalloproteinase (MMP) genes on chromosome 11q21-22 strongly associated with serum MMP-1 levels. (PMID: 20031604) Cheng Y.C. … Pollin T.I. (Circ Cardiovasc Genet 2009) 3 22 46 64
  2. Clinical significance of a single nucleotide polymorphism and allelic imbalance of matrix metalloproteinase-1 promoter region in prostate cancer. (PMID: 19639194) Tsuchiya N. … Habuchi T. (Oncol. Rep. 2009) 3 22 46 64
  3. Analysis of germline variants in CDH1, IGFBP3, MMP1, MMP3, STK15 and VEGF in familial and sporadic renal cell carcinoma. (PMID: 19551141) Ricketts C. … Maher E.R. (PLoS ONE 2009) 3 22 46 64
  4. Gene polymorphisms related to angiogenesis, inflammation and thrombosis that influence risk for oral cancer. (PMID: 18674955) Vairaktaris E. … Patsouris E. (Oral Oncol. 2009) 3 22 46 64
  5. Genetic and epigenetic mechanisms combine to control MMP1 expression and its association with preterm premature rupture of membranes. (PMID: 18178580) Wang H. … Strauss J.F. (Hum. Mol. Genet. 2008) 3 22 46 64

Products for MMP1 Gene

Sources for MMP1 Gene

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