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 proteolytic... See more...

Aliases for MMP1 Gene

Aliases for MMP1 Gene

  • Matrix Metallopeptidase 1 2 3 5
  • Interstitial Collagenase 2 3 4
  • Fibroblast Collagenase 3 4
  • EC 3.4.24.7 4 51
  • 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 51
  • MMP-1 4
  • CLGN 3
  • MMP1 5

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 G-protein signaling Ras family GTPases in kinase cascades (scheme) and Degradation of the extracellular matrix. 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 Summary 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 Tat's 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

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MMP1 Gene

Genomics for MMP1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MMP1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J102797 Promoter/Enhancer 1.4 EPDnew FANTOM5 Ensembl ENCODE 634.9 -2.0 -2047 5.6 JUND CEBPB USF1 FOS BHLHE40 MAX POLR2A NFE2L2 MMP1 MMP27 JA662190 lnc-MMP10-3 ENSG00000256035 lnc-MMP1-1 lnc-DYNC2H1-4 MMP3 WTAPP1
GH11J102830 Promoter/Enhancer 1.1 Ensembl ENCODE 19.6 -32.9 -32881 3.3 CTCF RAD21 YY1 SMC3 NBN STAT1 HNF4A MAX NRF1 ZNF652 MMP1 RNU7-159P MMP13 MMP3 piR-35712 lnc-DYNC2H1-4 WTAPP1
GH11J102719 Promoter/Enhancer 1.3 EPDnew FANTOM5 Ensembl ENCODE 10.5 +72.9 72859 12.2 CEBPB ZBTB40 FOS NONO SPI1 ZNF18 ATF4 JUND JUN HLF MMP8 MMP10 MMP1 MMP3 RNU7-159P MMP27 BIRC2 TMEM123 BIRC3
GH11J102757 Enhancer 1.1 FANTOM5 Ensembl ENCODE 11.2 +37.3 37260 7 ATF7 TEAD4 ZNF629 HDAC1 SOX6 CEBPB SP1 JUND JUN RCOR1 DYNC2H1 CFAP300 MMP1 MMP8 MMP3 MMP27 MMP7 BIRC2 ENSG00000225678 LOC100421658
GH11J102836 Enhancer 0.6 Ensembl ENCODE 19.1 -38.1 -38141 1.8 CEBPB EP300 PRDM4 TBP JUND ZNF701 MMP1 BIRC2 RNU7-159P MMP3 lnc-MMP12-2 piR-35712 lnc-DYNC2H1-4 WTAPP1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MMP1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MMP1

Top Transcription factor binding sites by QIAGEN in the MMP1 gene promoter:
  • AP-1
  • ATF-2
  • c-Jun
  • CREB
  • deltaCREB
  • SRF
  • SRF (504 AA)

Genomic Locations for MMP1 Gene

Genomic Locations for MMP1 Gene
chr11:102,789,919-102,798,160
(GRCh38/hg38)
Size:
8,242 bases
Orientation:
Minus strand
chr11:102,660,641-102,668,966
(GRCh37/hg19)
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:
    • (Microbial infection) 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

  • 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.
  • Tyrosine phosphorylated in platelets by PKDCC/VLK.
  • Glycosylation at Asn120 and Asn143
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • MMP1_HUMAN (301)

Other Protein References for MMP1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for MMP1

Domains & Families for MMP1 Gene

Gene Families for MMP1 Gene

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

Protein Domains for MMP1 Gene

Suggested Antigen Peptide Sequences for MMP1 Gene

GenScript: Design optimal peptide antigens:
  • Matrix metalloproteinase 1 (A5GZ69_HUMAN)
  • Matrix metalloproteinase-1 (MMP1_HUMAN)
  • MMP1 protein (Q96DZ4_HUMAN)

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.
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.
genes like me logo Genes that share domains with MMP1: view

Function for MMP1 Gene

Molecular function for MMP1 Gene

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 Tat's mediated neurotoxicity (PubMed:16807369).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=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.; EC=3.4.24.7; Evidence={ECO:0000269|PubMed:1645757, ECO:0000269|PubMed:16807369, ECO:0000269|PubMed:2153297, ECO:0000269|PubMed:2557822};.
UniProtKB/Swiss-Prot EnzymeRegulation:
Can be activated without removal of the activation peptide.
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

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 IDA,TAS --
GO:0004252 serine-type endopeptidase activity TAS --
GO:0008233 peptidase activity IEA,IDA 23845380
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:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MMP1

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
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 3
nucleus 3
mitochondrion 2
endoplasmic reticulum 2
endosome 2
cytosol 2
lysosome 2
peroxisome 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: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

Pathways by source for MMP1 Gene

5 GeneGo (Thomson Reuters) pathways for MMP1 Gene
  • Cell adhesion_Cell-matrix glycoconjugates
  • Cell adhesion_ECM remodeling
  • Immune response MIF-mediated glucocorticoid regulation
  • Immune response Oncostatin M signaling via MAPK in human cells
  • Immune response_Oncostatin M signaling via JAK-Stat in human cells
5 Qiagen pathways for MMP1 Gene
  • Colorectal Cancer Metastasis
  • Inhibition of Matrix Metalloproteinases
  • Pancreatic Adenocarcinoma
  • Transendothelial Migration of Leukocytes
  • UPA-UPAR Pathway
1 GeneTex pathway for MMP1 Gene

SIGNOR curated interactions for MMP1 Gene

Inactivates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for MMP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis TAS,IDA 15863497
GO:0016032 viral process IEA --
GO:0019221 cytokine-mediated signaling pathway TAS --
GO:0022617 extracellular matrix disassembly TAS --
GO:0030198 extracellular matrix organization IBA 21873635
genes like me logo Genes that share ontologies with MMP1: view

Drugs & Compounds for MMP1 Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Zinc Approved, Investigational Pharma 1594
Collagenase Approved, Investigational Pharma 0
[[1-[N-HYDROXY-ACETAMIDYL]-3-METHYL-BUTYL]-CARBONYL-LEUCINYL]-ALANINE ETHYL ESTER Experimental Pharma Target 0
CGS-27023 Experimental Pharma Target 0
METHYLAMINO-PHENYLALANYL-LEUCYL-HYDROXAMIC ACID Experimental Pharma Target 0

(57) 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

(6) 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
GM 6001 Broad spectrum MMP inhibitor 142880-36-2
Marimastat MMPs inhibitor,board spectrum 154039-60-8
Phosphoramidon Disodium Salt 164204-38-0
genes like me logo Genes that share compounds with MMP1: view

Transcripts for MMP1 Gene

mRNA/cDNA for MMP1 Gene

2 REFSEQ mRNAs :
21 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MMP1

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

No ASD Table

Relevant External Links for MMP1 Gene

GeneLoc Exon Structure 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 and MOPED for MMP1 Gene



Protein tissue co-expression partners for MMP1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MMP1

SOURCE GeneReport for Unigene cluster for MMP1 Gene:

Hs.83169

Evidence on tissue expression from TISSUES for MMP1 Gene

  • Thyroid gland(4.9)
  • Skin(4.7)
  • Lung(4.5)
  • Blood(3.2)
  • Intestine(3)
  • Heart(2.8)
  • Muscle(2.7)
  • Bone(2.6)
  • Spleen(2.5)
  • Pancreas(2.5)
  • Nervous system(2.4)
  • Liver(2.4)
  • Stomach(2.4)
  • Lymph node(2.4)
  • Eye(2.3)
  • Gall bladder(2.3)
  • Bone marrow(2.2)
  • Kidney(2.2)

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

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • ear
  • eye
  • face
  • head
  • inner ear
  • jaw
  • lip
  • mandible
  • maxilla
  • middle ear
  • mouth
  • neck
  • outer ear
  • pharynx
  • skull
  • tongue
  • tooth
Thorax:
  • chest wall
  • clavicle
  • esophagus
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • trachea
Abdomen:
  • intestine
  • large intestine
  • stomach
Pelvis:
  • ovary
  • pelvis
  • penis
  • prostate
  • rectum
  • testicle
  • uterus
  • vagina
  • vas deferens
  • vulva
Limb:
  • 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
General:
  • 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
Chimpanzee
(Pan troglodytes)
Mammalia MMP1 30 31
  • 99.5 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia LOC100848085 30
  • 86.36 (n)
MMP1 31 31
  • 85 (a)
OneToMany
Dog
(Canis familiaris)
Mammalia LOC489428 30
  • 85.09 (n)
MMP1 31
  • 71 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Mmp1a 30 17 31
  • 71.54 (n)
OneToMany
Mmp1b 31
  • 58 (a)
OneToMany
Rat
(Rattus norvegicus)
Mammalia Mmp1 30
  • 70.45 (n)
Oppossum
(Monodelphis domestica)
Mammalia MMP1 31
  • 68 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia MMP1 31
  • 62 (a)
OneToOne
Chicken
(Gallus gallus)
Aves MMP1 30
  • 66.3 (n)
-- 31
  • 59 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 54 (a)
OneToMany
African clawed frog
(Xenopus laevis)
Amphibia mmp1-prov 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7607 30
Fruit Fly
(Drosophila melanogaster)
Insecta Mmp1 32
  • 38 (a)
Worm
(Caenorhabditis elegans)
Secernentea C31B8.8 32
  • 44 (a)
Species where no ortholog for MMP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for MMP1: view image

Paralogs for MMP1 Gene

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

  • MMP1_HUMAN
  • A5GZ69_HUMAN
  • L8EC95_HUMAN
  • Q96DZ4_HUMAN

Pseudogenes.org Pseudogenes for MMP1 Gene

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

Variants for MMP1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MMP1 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
17114 Pathogenic, Risk Factor: Preterm premature rupture of membranes; Epidermolysis bullosa dystrophica, autosomal recessive, modifier of; Pulmonary disease, chronic obstructive, rate of decline of lung function in 102,799,765(-) C/.
712084 Likely Benign: not provided 102,790,787(-) A/T MISSENSE_VARIANT
719395 Likely Benign: not provided 102,797,358(-) G/T MISSENSE_VARIANT
736152 Likely Benign: not provided 102,792,642(-) G/A SYNONYMOUS_VARIANT
745742 Likely Benign: not provided 102,797,252(-) C/T INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for MMP1 Gene

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)
MMP1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MMP1

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

(109) MalaCards diseases for MMP1 Gene - From: 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
preterm premature rupture of the membranes
  • pprom
epidermolysis bullosa dystrophica
  • dystrophic epidermolysis bullosa
- 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
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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. A functional polymorphism in MMP1 could influence osteomyelitis development. (PMID: 19821768) Montes AH … Asensi V (Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2010) 3 23 41
  2. The genotypes of IL-1 beta and MMP-3 are associated with the prognosis of HCV-related hepatocellular carcinoma. (PMID: 20467172) Okamoto K … Yuasa I (Internal medicine (Tokyo, Japan) 2010) 3 23 41
  3. MMP-1(-1607G) polymorphism as a risk factor for fibrosis after pulmonary tuberculosis in Taiwan. (PMID: 20392358) Wang CH … Kuo HP (The international journal of tuberculosis and lung disease : the official journal of the International Union against Tuberculosis and Lung Disease 2010) 3 23 41
  4. Single nucleotide polymorphisms in matrix metalloproteinase genes and lung cancer chemotherapy response and prognosis. (PMID: 19643940) Scherf DB … Risch A (The European respiratory journal 2010) 3 23 41
  5. 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 23 41

Products for MMP1 Gene

Sources for MMP1 Gene