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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 4 56
  • 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 56
  • 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, Autosomal Recessive and Recessive Dystrophic Epidermolysis Bullosa. Among its related pathways are Cytokine Signaling in Immune system and Response to elevated platelet cytosolic Ca2+. Gene Ontology (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 (PubMed:2557822, PubMed:2153297, PubMed:1645757). In case of HIV infection, interacts and cleaves the secreted viral Tat protein, leading to a decrease in neuronal Tats mediated neurotoxicity (PubMed:16807369).

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

Additional gene information for MMP1 Gene

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

Genomics for MMP1 Gene

GeneHancer (GH) Regulatory Elements for MMP1 Gene

Promoters and enhancers for MMP1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11I102797 Promoter/Enhancer 1.4 EPDnew FANTOM5 Ensembl ENCODE 585 -2.0 -2001 5.6 JUND USF1 POLR2A MAX CEBPB FOS MMP1 MMP27 CSNK1A1P2 WTAPP1
GH11I102759 Enhancer 1.2 FANTOM5 Ensembl ENCODE 11.2 +36.2 36242 4.1 HDAC1 NFIB PLRG1 RFX5 ZNF366 ZNF350 RCOR1 ATF7 FOS CEBPB DYNC2H1 C11orf70 MMP1 MMP8 MMP3 MMP27 MMP7 BIRC2 LOC100421658 ENSG00000225678
GH11I102476 Enhancer 1.3 Ensembl ENCODE dbSUPER 9.4 +321.1 321123 1.7 FOXA2 MLX ARID4B YY1 RXRA SP5 NFYC MIER2 REST PPARG LOC101928424 BIRC2 MMP7 MMP20 ENSG00000256916 MMP1 TMEM123 LOC102723838 LOC105369461
GH11I102830 Enhancer 0.5 ENCODE 19.6 -33.6 -33590 1.7 CTCF NBN ZNF143 MAX HNF4A RAD21 YY1 MMP1 RNU7-159P MMP13 MMP3 PIR58757 WTAPP1
GH11I102727 Enhancer 0.9 FANTOM5 Ensembl ENCODE 10.5 +70.1 70109 1.5 JUND JUN FOS MMP8 MMP27 MMP10 MMP1 MMP3 RNU7-159P BIRC2 TMEM123 BIRC3 WTAPP1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around MMP1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MMP1 gene promoter:

Genomic Locations for MMP1 Gene

Genomic Locations for MMP1 Gene
8,326 bases
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:
    Recommended name:
    Interstitial collagenase
    Protein Accession:
    Secondary Accessions:
    • P08156

    Protein attributes for MMP1 Gene

    469 amino acids
    Molecular mass:
    54007 Da
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
    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


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 isoforms=120
  • Modification sites at PhosphoSitePlus

Other Protein References for MMP1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for MMP1 Gene

Gene Families for MMP1 Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Candidate cardiovascular disease genes
  • Enzymes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for MMP1 Gene

Graphical View of Domain Structure for InterPro Entry



  • 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.
  • 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.
  • Belongs to the peptidase M10A family.
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 (PubMed:2557822, PubMed:2153297, PubMed:1645757). In case of HIV infection, interacts and cleaves the secreted viral Tat protein, leading to a decrease in neuronal Tats mediated neurotoxicity (PubMed:16807369).

Enzyme Numbers (IUBMB) for MMP1 Gene

Phenotypes From GWAS Catalog 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 TAS,IDA --
GO:0004252 serine-type endopeptidase activity TAS --
GO:0008233 peptidase activity IEA --
GO:0008237 metallopeptidase 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:

Clone 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

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MMP1 gene
Compartment Confidence
extracellular 5
plasma membrane 3
cytoskeleton 2
nucleus 2
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
cytosol 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for MMP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region 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 IDA,TAS 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

(95) Drugs for MMP1 Gene - From: DrugBank, ApexBio, DGIdb, HMDB, 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, Investigational Pharma 2430
Collagenase Approved, Investigational Pharma 0
calcium Approved Nutra 0

(60) Additional Compounds for MMP1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(3) Tocris Compounds for MMP1 Gene

Compound Action Cas Number
ARP 100 Selective inhibitor of MMP-2 704888-90-4
ARP 101 Inhibitor of MMP-2 849773-63-3
PD 166793 Broad spectrum MMP inhibitor 199850-67-4

(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:

Clone Products

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

No ASD Table

Relevant External Links for MMP1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for MMP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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:


SOURCE GeneReport for Unigene cluster for MMP1 Gene:


Evidence on tissue expression from TISSUES for MMP1 Gene

  • Thyroid gland(4.9)
  • Skin(4.7)
  • Lung(4.5)
  • Blood(2.8)
  • Intestine(2.4)
  • Heart(2.3)
  • Muscle(2.3)
  • Bone(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MMP1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Head and neck:
  • brain
  • ear
  • eye
  • face
  • head
  • inner ear
  • jaw
  • lip
  • mandible
  • maxilla
  • middle ear
  • mouth
  • neck
  • outer ear
  • pharynx
  • skull
  • tongue
  • tooth
  • chest wall
  • clavicle
  • esophagus
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • trachea
  • intestine
  • large intestine
  • stomach
  • ovary
  • pelvis
  • penis
  • prostate
  • rectum
  • testicle
  • uterus
  • vagina
  • vas deferens
  • vulva
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
  • blood
  • hair
  • red blood cell
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with MMP1: view

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
(Pan troglodytes)
Mammalia MMP1 33 34
  • 99.5 (n)
(Bos Taurus)
Mammalia LOC100848085 33
  • 86.36 (n)
MMP1 34 34
  • 85 (a)
(Canis familiaris)
Mammalia LOC489428 33
  • 85.09 (n)
MMP1 34
  • 71 (a)
(Mus musculus)
Mammalia Mmp1a 33 16 34
  • 71.54 (n)
Mmp1b 34
  • 58 (a)
(Rattus norvegicus)
Mammalia Mmp1 33
  • 70.45 (n)
(Monodelphis domestica)
Mammalia MMP1 34
  • 68 (a)
(Ornithorhynchus anatinus)
Mammalia MMP1 34
  • 62 (a)
(Gallus gallus)
Aves MMP1 33
  • 66.3 (n)
-- 34
  • 59 (a)
(Anolis carolinensis)
Reptilia -- 34
  • 54 (a)
African clawed frog
(Xenopus laevis)
Amphibia mmp1-prov 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7607 33
fruit fly
(Drosophila melanogaster)
Insecta Mmp1 35
  • 38 (a)
(Caenorhabditis elegans)
Secernentea C31B8.8 35
  • 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

Gene Tree for MMP1 (if available)
Gene Tree for MMP1 (if available)

Paralogs for MMP1 Gene

(17) SIMAP similar genes for MMP1 Gene using alignment to 4 proteins: 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 Variation AA Info Type
rs10488 benign, not specified 102,797,291(-) C/G/T coding_sequence_variant, synonymous_variant
rs1051121 benign, not specified 102,795,242(-) C/T coding_sequence_variant, synonymous_variant
rs1144391 benign, not specified 102,792,751(-) A/T intron_variant
rs17884110 benign, not specified 102,792,746(-) G/GG intron_variant
rs470558 benign, not specified 102,795,585(-) T/C coding_sequence_variant, synonymous_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)

Additional Variant Information for MMP1 Gene

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

SNP Genotyping and Copy Number Assay Products

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

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

Disorder Aliases PubMed IDs
epidermolysis bullosa dystrophica, autosomal recessive
  • rdeb
recessive dystrophic epidermolysis bullosa
  • autosomal recessive dystrophic epidermolysis bullosa generalisata gravis
pulmonary disease, chronic obstructive
  • copd
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

Additional Disease Information for MMP1

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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. Gene polymorphisms related to angiogenesis, inflammation and thrombosis that influence risk for oral cancer. (PMID: 18674955) Vairaktaris E … Patsouris E (Oral oncology 2009) 3 22 44 58
  2. Analysis of germline variants in CDH1, IGFBP3, MMP1, MMP3, STK15 and VEGF in familial and sporadic renal cell carcinoma. (PMID: 19551141) Ricketts C … Maher ER (PloS one 2009) 3 22 44 58
  3. 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 (Oncology reports 2009) 3 22 44 58
  4. 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 YC … Pollin TI (Circulation. Cardiovascular genetics 2009) 3 22 44 58
  5. Association between promoter -1607 polymorphism of MMP1 and lumbar disc disease in Southern Chinese. (PMID: 18439317) Song YQ … Cheung KM (BMC medical genetics 2008) 3 22 44 58

Products for MMP1 Gene

Sources for MMP1 Gene

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