MMP1 (matrix metallopeptidase 1) - Rat Genome Database

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Gene: MMP1 (matrix metallopeptidase 1) Homo sapiens
Analyze
Symbol: MMP1
Name: matrix metallopeptidase 1
RGD ID: 1317388
HGNC Page HGNC:7155
Description: Enables metalloendopeptidase activity. Involved in cellular response to UV-A; positive regulation of protein-containing complex assembly; and proteolysis. Predicted to be located in extracellular region. Predicted to be part of collagen trimer. Implicated in several diseases, including artery disease (multiple); female reproductive organ cancer (multiple); intrinsic cardiomyopathy (multiple); obstructive lung disease (multiple); and urinary system cancer (multiple). Biomarker of several diseases, including artery disease (multiple); arthritis (multiple); idiopathic pulmonary fibrosis; immunoglobulin light chain amyloidosis; and systemic lupus erythematosus.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CLG; CLGN; fibroblast collagenase; interstitial collagenase; matrix metallopeptidase 1 (interstitial collagenase); matrix metalloprotease 1; matrix metalloproteinase 1; matrix metalloproteinase 1 (interstitial collagenase)
RGD Orthologs
Mouse
Rat
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3811102,789,919 - 102,798,160 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl11102,789,401 - 102,798,160 (-)EnsemblGRCh38hg38GRCh38
GRCh3711102,660,650 - 102,668,891 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3611102,165,861 - 102,174,104 (-)NCBINCBI36Build 36hg18NCBI36
Build 3411102,165,860 - 102,174,104NCBI
Celera1199,822,300 - 99,830,624 (-)NCBICelera
Cytogenetic Map11q22.2NCBI
HuRef1198,588,616 - 98,596,940 (-)NCBIHuRef
CHM1_111102,543,487 - 102,551,813 (-)NCBICHM1_1
T2T-CHM13v2.011102,793,739 - 102,801,980 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
abdominal aortic aneurysm  (IDA)
Adult Cerebral Astrocytoma  (IAGP)
Airway Obstruction  (IAGP)
Amaurosis Fugax  (IDA)
amyotrophic lateral sclerosis  (IEP)
Aneurysm  (EXP)
aortic valve stenosis  (IDA)
arteriosclerosis  (IDA)
asphyxiating thoracic dystrophy  (IAGP)
asthma  (EXP)
ataxia telangiectasia  (IAGP)
atherosclerosis  (EXP,IMP)
atrial fibrillation  (IAGP,IEP)
autosomal dominant polycystic kidney disease  (IEP)
Barrett's esophagus  (IAGP)
breast cancer  (IAGP,IEP)
Breast Neoplasms  (EXP)
carotid artery disease  (IDA)
carotid stenosis  (IAGP)
cervical cancer  (IAGP)
cholesteatoma of middle ear  (IEP)
chronic obstructive pulmonary disease  (IAGP,ISO)
Chronic Periodontitis  (IAGP,IEP)
Colorectal Neoplasms  (EXP,IAGP)
Congenital Nephrotic Syndrome with or without Ocular Abnormalities  (ISO)
congestive heart failure  (IDA,ISO)
coronary artery disease  (IAGP,IDA)
Coronary Disease  (IAGP)
COVID-19  (IEP)
degenerative disc disease  (ISO)
dermatomyositis  (ISO)
dilated cardiomyopathy  (IDA,IEP)
Dissecting Aneurysm  (IDA)
Emphysema  (IAGP)
end stage renal disease  (IAGP)
epidermolysis bullosa dystrophica  (IAGP)
esophagus adenocarcinoma  (IAGP)
exfoliation syndrome  (IAGP)
Experimental Arthritis  (ISO)
Experimental Autoimmune Uveitis  (ISO)
Experimental Diabetes Mellitus  (ISO)
Experimental Liver Cirrhosis  (EXP)
Experimental Mammary Neoplasms  (IMP)
Fetal Hypoxia  (ISO)
glomerulosclerosis  (ISO)
Head and Neck Neoplasms  (IAGP)
HIV-Associated Lipodystrophy Syndrome  (IAGP)
Hyperplasia  (ISO)
hypertension  (IDA,IEP)
hypertrophic cardiomyopathy  (IDA)
idiopathic pulmonary fibrosis  (IAGP,IEP)
immunoglobulin light chain amyloidosis  (IEP)
intellectual disability  (IAGP)
intermediate coronary syndrome  (IDA)
Kidney Neoplasms  (IAGP)
Knee Osteoarthritis  (ISO)
liver cirrhosis  (ISO)
localized scleroderma  (IDA)
lung cancer  (IAGP)
Lung Neoplasms  (EXP,IAGP)
lung non-small cell carcinoma  (EXP)
Multiple Organ Failure  (ISO)
myocardial infarction  (IAGP,IDA,IMP,ISO)
Myocardial Reperfusion Injury  (IDA,ISO)
Nasal Polyps  (IEP)
Neoplasm Invasiveness  (EXP)
Neoplasm Metastasis  (EXP)
non-alcoholic fatty liver disease  (EXP)
obstructive lung disease  (IAGP)
ocular hypertension  (EXP,IMP)
oral submucous fibrosis  (EXP)
osteoarthritis  (IEP)
ovarian cancer  (IAGP)
periodontitis  (IEP)
polymyositis  (ISO)
preterm premature rupture of the membranes  (IAGP)
primary open angle glaucoma  (IAGP)
psoriatic arthritis  (IEP)
pulmonary emphysema  (IAGP)
pulmonary fibrosis  (ISO)
pulmonary hypertension  (ISO)
renal cell carcinoma  (IAGP)
renal fibrosis  (IMP)
rheumatoid arthritis  (IEP)
scoliosis  (ISO)
Sepsis  (ISO)
skin melanoma  (IAGP)
stomach carcinoma  (IEP)
Stroke  (IDA)
Subarachnoid Hemorrhage  (IAGP)
Sudden Hearing Loss  (IAGP)
systemic lupus erythematosus  (IEP)
systemic scleroderma  (IEP)
tendinitis  (ISO)
thoracic aortic aneurysm  (IDA,IEP)
thrombosis  (IAGP)
type 2 diabetes mellitus  (IEP,ISO)
ulcerative colitis  (ISO)
urinary bladder cancer  (IAGP,IEP)
varicose veins  (IDA)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-epigallocatechin 3-gallate  (EXP)
(R)-mevalonic acid  (EXP)
(S)-nicotine  (EXP)
1-chloro-2,4-dinitrobenzene  (EXP)
15-deoxy-Delta(12,14)-prostaglandin J2  (EXP)
17beta-estradiol  (EXP)
17beta-hydroxy-17-methylestra-4,9,11-trien-3-one  (EXP)
17beta-hydroxy-5alpha-androstan-3-one  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4,6-tribromophenol  (EXP)
2,4,6-trinitrobenzenesulfonic acid  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (EXP)
2-amino-2-deoxy-D-glucopyranose  (EXP)
2-hydroxypropanoic acid  (EXP)
2-trans,6-trans,10-trans-geranylgeranyl diphosphate  (EXP)
3,3',4,4',5-pentachlorobiphenyl  (EXP)
3,3',5,5'-tetrabromobisphenol A  (EXP)
3,4-dichloroaniline  (EXP)
3-hydroxypicolinic acid  (EXP)
3-methylcholanthrene  (ISO)
4-hydroxynon-2-enal  (EXP)
5-aminolevulinic acid  (EXP)
5-aza-2'-deoxycytidine  (EXP)
5-azacytidine  (EXP)
5-fluorouracil  (EXP)
6-chloro-2,3,4,9-tetrahydro-1H-carbazole-1-carboxamide  (EXP)
acetaldehyde  (EXP)
acrolein  (EXP)
actinomycin D  (EXP)
aflatoxin M1  (EXP)
aldehydo-D-glucosamine  (EXP)
aldehydo-D-glucose  (EXP,ISO)
all-trans-retinoic acid  (EXP)
alpha-naphthoflavone  (EXP,ISO)
aluminium oxide  (EXP)
amitrole  (EXP)
Ammothamnine  (EXP)
anandamide  (EXP)
anthra[1,9-cd]pyrazol-6(2H)-one  (EXP)
apigenin  (EXP)
Arg-Gly-Asp  (EXP)
arotinoid acid  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenous acid  (EXP)
Azaspiracid  (EXP)
azithromycin  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
Benzo[k]fluoranthene  (EXP)
benzylpenicillin  (EXP)
beta-D-glucosamine  (EXP)
bexarotene  (EXP)
Bis-(1-chloro-2-propyl) phosphate  (EXP)
bisphenol A  (EXP,ISO)
bleomycin A2  (EXP)
bufalin  (EXP)
butanal  (EXP)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
calcitriol  (EXP)
calcium atom  (EXP)
calcium(0)  (EXP)
capsaicin  (EXP)
capsazepine  (EXP)
carazolol  (EXP)
carbamazepine  (EXP)
CGP 52608  (EXP)
chalcones  (EXP)
CHIR 99021  (EXP)
chloropicrin  (EXP)
chlorothalonil  (EXP)
chromium atom  (EXP)
chrysin  (EXP)
ciprofloxacin  (EXP)
cisplatin  (EXP)
cobalt atom  (EXP)
cobalt dichloride  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
cortisol  (EXP)
crocidolite asbestos  (EXP)
Cuprizon  (ISO)
curcumin  (ISO)
cycloheximide  (EXP)
cyclosporin A  (EXP)
D-glucose  (EXP,ISO)
deguelin  (EXP)
desferrioxamine B  (EXP)
dexamethasone  (EXP)
diarsenic trioxide  (EXP)
dibenziodolium  (EXP)
dichloromethane  (EXP)
Didecyldimethylammonium  (EXP)
dieckol  (EXP)
diethyl maleate  (EXP)
dimethyl sulfoxide  (EXP)
dimethylarsinous acid  (EXP)
dinophysistoxin 1  (EXP)
dioxygen  (EXP)
diuron  (EXP)
dizocilpine maleate  (ISO)
doxorubicin  (EXP)
EC 3.1.1.4 (phospholipase A2) inhibitor  (EXP)
endosulfan  (EXP)
ethylene glycol bis(2-aminoethyl)tetraacetic acid  (EXP)
etoposide  (EXP)
famotidine  (EXP)
fenofibrate  (EXP)
flavonoids  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
fulvestrant  (EXP)
gadodiamide hydrate  (EXP)
geldanamycin  (EXP)
genistein  (EXP)
glucose  (EXP,ISO)
Heliotrine  (EXP)
hemin  (EXP)
heparin  (EXP)
herbimycin  (EXP)
histamine  (EXP)
homocysteine  (ISO)
HU-308  (EXP)
hyaluronic acid  (ISO)
hydrogen chloride  (ISO)
hydrogen peroxide  (EXP)
hydroquinone  (EXP)
hydroxychloroquine  (EXP)
ibuprofen  (EXP)
ilomastat  (ISO)
iron atom  (EXP)
iron(0)  (EXP)
isoprenaline  (ISO)
L-ascorbic acid  (EXP)
L-ascorbic acid 2-phosphate  (EXP)
L-cystathionine  (EXP)
L-cysteine  (EXP)
lamivudine  (EXP)
lipopolysaccharide  (EXP,ISO)
lucanthone  (EXP)
luteolin  (EXP)
LY294002  (EXP,ISO)
medroxyprogesterone acetate  (EXP)
mercury dichloride  (ISO)
Methanandamide  (EXP)
methotrexate  (EXP,ISO)
methylisothiazolinone  (EXP)
mibolerone  (EXP)
mifepristone  (EXP)
moxifloxacin  (EXP)
N-acetyl-L-cysteine  (EXP)
N-nitrosodimethylamine  (ISO)
nickel atom  (EXP)
nickel sulfate  (EXP)
nicotine  (EXP)
norfloxacin  (EXP)
NSC 23766  (EXP)
okadaic acid  (EXP)
organoselenium compound  (EXP)
paclitaxel  (EXP)
paracetamol  (EXP)
paraquat  (EXP)
PD 0325901  (EXP)
pentanal  (EXP)
peptidoglycan  (EXP)
perfluorodecanoic acid  (EXP)
perfluorooctanesulfonamide  (EXP)
phenobarbital  (EXP)
phenytoin  (EXP)
phorbol 13-acetate 12-myristate  (EXP)
phosphocholine  (EXP)
phosphorylcholine chloride  (EXP)
platycodin D  (EXP)
polymyxin B2  (EXP)
potassium chromate  (EXP)
progesterone  (EXP)
propanal  (EXP)
protein kinase inhibitor  (ISO)
pyrrolidine dithiocarbamate  (EXP)
quartz  (EXP)
quercetin  (EXP)
rac-lactic acid  (EXP)
reactive oxygen species  (EXP)
resveratrol  (EXP,ISO)
rofecoxib  (EXP)
ruthenium red  (EXP)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
S-butyl-DL-homocysteine (S,R)-sulfoximine  (EXP)
SB 203580  (EXP)
SB 431542  (EXP)
selumetinib  (EXP)
senecionine  (EXP)
Senkirkine  (EXP)
serpentine asbestos  (EXP)
silicon dioxide  (EXP)
simvastatin  (EXP)
sirolimus  (EXP)
sodium arsenite  (EXP)
sodium azide  (EXP)
sotorasib  (EXP)
sulfasalazine  (EXP)
sulindac sulfide  (EXP)
sunitinib  (EXP)
T-2 toxin  (EXP)
tamoxifen  (EXP,ISO)
Tanshinone I  (ISO)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
thymidine  (EXP)
thymine  (EXP)
Tiron  (EXP)
titanium dioxide  (EXP)
tofacitinib  (EXP)
topotecan  (EXP)
trametinib  (EXP)
trichostatin A  (EXP)
tubocurarine  (EXP)
Tungsten carbide  (EXP)
tunicamycin  (EXP)
tyrphostin AG 1478  (EXP)
U-73122  (EXP)
Ursonic acid  (EXP)
vanadium atom  (EXP)
vanadium(0)  (EXP)
vanadyl sulfate  (EXP)
varespladib methyl  (EXP)
vemurafenib  (EXP)
vincaleukoblastine  (EXP)
XAV939  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal breast morphology  (IAGP)
Abnormal circulating selenium concentration  (IAGP)
Abnormal esophagus morphology  (IAGP)
Abnormal large intestine morphology  (IAGP)
Abnormal lung morphology  (IAGP)
Abnormal ovarian morphology  (IAGP)
Abnormal periodontium morphology  (IAGP)
Abnormal renal morphology  (IAGP)
Abnormal scalp morphology  (IAGP)
Abnormal uterine cervix morphology  (IAGP)
Abnormality of bladder morphology  (IAGP)
Abnormality of blood and blood-forming tissues  (IAGP)
Abnormality of head or neck  (IAGP)
Alopecia  (IAGP)
Anal fissure  (IAGP)
Anemia  (IAGP)
Ankyloglossia  (IAGP)
Anonychia  (IAGP)
Anxiety  (IAGP)
Aplasia cutis congenita  (IAGP)
Atrophic scars  (IAGP)
Autosomal recessive inheritance  (IAGP)
Azotemia  (IAGP)
Carious teeth  (IAGP)
Cataract  (IAGP)
Chronic cutaneous wound  (IAGP)
Chronic kidney disease  (IAGP)
Chronic pain  (IAGP)
Chronic pulmonary obstruction  (IAGP)
Congenital onset  (IAGP)
Conjunctivitis  (IAGP)
Constipation  (IAGP)
Corneal erosion  (IAGP)
Corneal scarring  (IAGP)
Coronary artery stenosis  (IAGP)
Cutaneous melanoma  (IAGP)
Decreased glomerular filtration rate  (IAGP)
Decreased plasma total carnitine  (IAGP)
Decreased serum zinc  (IAGP)
Delayed puberty  (IAGP)
Depression  (IAGP)
Dilated cardiomyopathy  (IAGP)
Dysphagia  (IAGP)
Enamel hypoplasia  (IAGP)
Erosion of oral mucosa  (IAGP)
Esophageal carcinoma  (IAGP)
Esophageal neoplasm  (IAGP)
Esophageal stricture  (IAGP)
Esophageal ulceration  (IAGP)
Flexion contracture  (IAGP)
Foot joint contracture  (IAGP)
Fragile skin  (IAGP)
Gastroesophageal reflux  (IAGP)
Gastrointestinal inflammation  (IAGP)
Genital blistering  (IAGP)
Glomerulonephritis  (IAGP)
Growth delay  (IAGP)
IgA deposition in the glomerulus  (IAGP)
Infantile onset  (IAGP)
Intellectual disability  (IAGP)
Iron deficiency anemia  (IAGP)
Low levels of vitamin D  (IAGP)
Malnutrition  (IAGP)
Milia  (IAGP)
Mitten deformity  (IAGP)
Nail dysplasia  (IAGP)
Nail dystrophy  (IAGP)
Narrow mouth  (IAGP)
Oral mucosal blisters  (IAGP)
Osteopenia  (IAGP)
Osteoporosis  (IAGP)
Recurrent skin infections  (IAGP)
Renal amyloidosis  (IAGP)
Spontaneous esophageal perforation  (IAGP)
Squamous cell carcinoma  (IAGP)
Sub-lamina densa cleavage  (IAGP)
Urethral stricture  (IAGP)
Urinary bladder sphincter dysfunction  (IAGP)
Visual loss  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Local delivery of matrix metalloproteinase gene prevents the onset of renal sclerosis in streptozotocin-induced diabetic mice. Aoyama T, etal., Tissue Eng. 2003 Dec;9(6):1289-99.
2. MMP-1 expression has an independent prognostic value in breast cancer. Bostrom P, etal., BMC Cancer. 2011 Aug 11;11:348. doi: 10.1186/1471-2407-11-348.
3. Matrix metalloproteinase 1, 3 and 12 polymorphisms and esophageal adenocarcinoma risk and prognosis. Bradbury PA, etal., Carcinogenesis. 2009 May;30(5):793-8. doi: 10.1093/carcin/bgp065. Epub 2009 Mar 25.
4. Low-level laser therapy in experimental model of collagenase-induced tendinitis in rats: effects in acute and chronic inflammatory phases. Casalechi HL, etal., Lasers Med Sci. 2013 May;28(3):989-95. doi: 10.1007/s10103-012-1189-x. Epub 2012 Aug 28.
5. Regulation of collagen degradation in the rat myocardium after infarction. Cleutjens JP, etal., J Mol Cell Cardiol. 1995 Jun;27(6):1281-92.
6. Glomerular Protein Levels of Matrix Metalloproteinase-1 and Tissue Inhibitor of Metalloproteinase-1 Are Lower in Diabetic Subjects. Cornish TC, etal., J Histochem Cytochem. 2009 Jun 8.
7. Matrix metalloproteinase-1 and matrix metalloproteinase-3 gene promoter polymorphisms are associated with mortality in haemodialysis patients. Cozzolino M, etal., Nephrol Dial Transplant. 2009 Jul;24(7):2207-12. doi: 10.1093/ndt/gfp061. Epub 2009 Feb 16.
8. MMP-1 promoter polymorphism: association with chronic periodontitis severity in a Brazilian population. de Souza AP, etal., J Clin Periodontol. 2003 Feb;30(2):154-8.
9. Plasma MMP1 and MMP8 expression in breast cancer: protective role of MMP8 against lymph node metastasis. Decock J, etal., BMC Cancer. 2008 Mar 20;8:77.
10. Genetic determinants of emphysema distribution in the national emphysema treatment trial. DeMeo DL, etal., Am J Respir Crit Care Med. 2007 Jul 1;176(1):42-8. Epub 2007 Mar 15.
11. [Effect of Bushen Huoxue recipe on the state of extracellular matrix in glomerulosclerosis rats model]. Duan XH, etal., Zhongguo Zhong Xi Yi Jie He Za Zhi. 2010 Nov;30(11):1197-200.
12. Prognostic significance of matrix metalloproteinase-1 and tissue inhibitor of metalloproteinase-1 in voided urine samples from patients with transitional cell carcinoma of the bladder. Durkan GC, etal., Clin Cancer Res. 2001 Nov;7(11):3450-6.
13. Matrix metalloproteinases in patients with myocardial infarction and percutaneous revascularization. Eckart RE, etal., J Interv Cardiol. 2004 Feb;17(1):27-31.
14. Downregulation of vascular matrix metalloproteinase inducer and activator proteins in hypertensive patients. Ergul A, etal., Am J Hypertens. 2004 Sep;17(9):775-82.
15. A quantitative gene expression profile of matrix metalloproteinases (MMPS) and their inhibitors (TIMPS) in the myocardium of patients with deteriorating heart failure requiring left ventricular assist device support. Felkin LE, etal., J Heart Lung Transplant. 2006 Dec;25(12):1413-9.
16. Inflammation Profiling of Critically Ill Coronavirus Disease 2019 Patients. Fraser DD, etal., Crit Care Explor. 2020 Jun 22;2(6):e0144. doi: 10.1097/CCE.0000000000000144. eCollection 2020 Jun.
17. Differential gene expression of MMP-1, TIMP-1 and HGF in clinically involved and uninvolved skin in South Africans with SSc. Frost J, etal., Rheumatology (Oxford). 2012 Jun;51(6):1049-52. doi: 10.1093/rheumatology/ker367. Epub 2012 Jan 27.
18. Total glucosides of Danggui Buxue Tang attenuates bleomycin-induced pulmonary fibrosis via inhibition of extracellular matrix remodelling. Gao J, etal., J Pharm Pharmacol. 2012 Jun;64(6):811-20. doi: 10.1111/j.2042-7158.2012.01490.x. Epub 2012 Apr 5.
19. [The expressions of TNF-alpha and MMP-9 in serum and MMP-1 mRNA in the bone tissue in chronic obstructive pulmonary disease patients of cold dryness syndrome in northwest China]. Gao Z, etal., Zhongguo Zhong Xi Yi Jie He Za Zhi. 2012 Aug;32(8):1103-6.
20. Treatment of sheep steroid-induced ocular hypertension with a glucocorticoid-inducible MMP1 gene therapy virus. Gerometta R, etal., Invest Ophthalmol Vis Sci. 2010 Jun;51(6):3042-8. doi: 10.1167/iovs.09-4920. Epub 2010 Jan 20.
21. Matrix metalloproteinase-1 promoter polymorphism 1G/2G is correlated with colorectal cancer invasiveness. Ghilardi G, etal., Clin Cancer Res. 2001 Aug;7(8):2344-6.
22. A single nucleotide polymorphism in the matrix metalloproteinase-3 promoter enhances breast cancer susceptibility. Ghilardi G, etal., Clin Cancer Res. 2002 Dec;8(12):3820-3.
23. Matrix metalloproteinase-1 and matrix metalloproteinase-3 gene promoter polymorphisms are associated with carotid artery stenosis. Ghilardi G, etal., Stroke. 2002 Oct;33(10):2408-12.
24. Varicose veins possess greater quantities of MMP-1 than normal veins and demonstrate regional variation in MMP-1 and MMP-13. Gillespie DL, etal., J Surg Res. 2002 Aug;106(2):233-8.
25. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
26. Expression of matrix metalloproteinase-1 (MMP-1) in Wistar rat's intervertebral disc after experimentally induced scoliotic deformity. Grivas TB, etal., Scoliosis. 2011 May 9;6(1):9. doi: 10.1186/1748-7161-6-9.
27. Lipodermatosclerosis is characterized by elevated expression and activation of matrix metalloproteinases: implications for venous ulcer formation. Herouy Y, etal., J Invest Dermatol. 1998 Nov;111(5):822-7.
28. Interstitial fibrosis in the heart: differences in extracellular matrix proteins and matrix metalloproteinases in end-stage dilated, ischaemic and valvular cardiomyopathy. Herpel E, etal., Histopathology. 2006 May;48(6):736-47.
29. A single nucleotide polymorphism in the matrix metalloproteinase-1 promoter is associated with conventional renal cell carcinoma. Hirata H, etal., Int J Cancer. 2003 Sep 1;106(3):372-4.
30. Multiple-polymorphism associations of 7 matrix metalloproteinase and tissue inhibitor metalloproteinase genes with myocardial infarction and angiographic coronary artery disease. Horne BD, etal., Am Heart J. 2007 Oct;154(4):751-8.
31. Protective effects of berberine in an experimental rat osteoarthritis model. Hu PF, etal., Phytother Res. 2011 Jun;25(6):878-85. doi: 10.1002/ptr.3359. Epub 2010 Nov 24.
32. Matrix metalloproteinase-1 polymorphism is associated with persistent airway obstruction in asthma in the Taiwanese population. Huang CD, etal., J Asthma. 2009 Feb;46(1):41-6.
33. Expression of matrix metalloproteinases and endogenous inhibitors within ascending aortic aneurysms of patients with Marfan syndrome. Ikonomidis JS, etal., Circulation. 2006 Jul 4;114(1 Suppl):I365-70.
34. Circulating matrix metalloproteinase-1 and -3 in patients with an acute coronary syndrome. Inoue T, etal., Am J Cardiol. 2003 Dec 15;92(12):1461-4.
35. Matrix metalloproteinase-1 and -3 gene promoter polymorphisms in Japanese patients with periodontitis. Itagaki M, etal., J Clin Periodontol. 2004 Sep;31(9):764-9.
36. Proteolytic cleavage of type I collagen generates an autoantigen in autoimmune uveitis. Jha P, etal., J Biol Chem. 2009 Nov 6;284(45):31401-11. doi: 10.1074/jbc.M109.033381. Epub 2009 Sep 15.
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PMID:20460098   PMID:20463008   PMID:20463013   PMID:20467172   PMID:20471133   PMID:20483790   PMID:20485444   PMID:20517696   PMID:20538124   PMID:20565774   PMID:20584750   PMID:20587546  
PMID:20609440   PMID:20616708   PMID:20617463   PMID:20628086   PMID:20628624   PMID:20648623   PMID:20662554   PMID:20673868   PMID:20701626   PMID:20702488   PMID:20706772   PMID:20813982  
PMID:20826916   PMID:20827277   PMID:20855151   PMID:20860530   PMID:20873121   PMID:20971661   PMID:20979817   PMID:21039987   PMID:21042785   PMID:21048031   PMID:21070736   PMID:21108787  
PMID:21143918   PMID:21144496   PMID:21161310   PMID:21170377   PMID:21224082   PMID:21232745   PMID:21241837   PMID:21244504   PMID:21244711   PMID:21251748   PMID:21277671   PMID:21279994  
PMID:21336947   PMID:21344389   PMID:21345293   PMID:21357403   PMID:21382168   PMID:21397653   PMID:21410405   PMID:21410539   PMID:21424117   PMID:21432777   PMID:21440529   PMID:21451543  
PMID:21454617   PMID:21481333   PMID:21519144   PMID:21523769   PMID:21531813   PMID:21539914   PMID:21544886   PMID:21547130   PMID:21591259   PMID:21606841   PMID:21637818   PMID:21640141  
PMID:21670150   PMID:21672616   PMID:21673681   PMID:21694466   PMID:21707906   PMID:21709637   PMID:21715326   PMID:21753786   PMID:21756063   PMID:21757573   PMID:21761103   PMID:21770773  
PMID:21835828   PMID:21858729   PMID:21872446   PMID:21873635   PMID:21881840   PMID:21909684   PMID:21925842   PMID:21935932   PMID:21948273   PMID:21952248   PMID:21964487   PMID:21964541  
PMID:21966428   PMID:21988832   PMID:22005258   PMID:22011282   PMID:22024213   PMID:22030392   PMID:22092736   PMID:22117411   PMID:22177562   PMID:22184992   PMID:22207289   PMID:22210296  
PMID:22253805   PMID:22323068   PMID:22333608   PMID:22341926   PMID:22367096   PMID:22369948   PMID:22390030   PMID:22439866   PMID:22442164   PMID:22487523   PMID:22515421   PMID:22573325  
PMID:22580338   PMID:22655095   PMID:22683752   PMID:22712305   PMID:22776467   PMID:22788708   PMID:22819245   PMID:22853432   PMID:22863019   PMID:22868188   PMID:22889273   PMID:22901654  
PMID:22922035   PMID:22936257   PMID:22965879   PMID:22992122   PMID:22992722   PMID:22993337   PMID:23060436   PMID:23063352   PMID:23098370   PMID:23108733   PMID:23116893   PMID:23147541  
PMID:23155052   PMID:23164104   PMID:23217186   PMID:23222305   PMID:23239492   PMID:23253141   PMID:23313298   PMID:23322779   PMID:23343931   PMID:23357697   PMID:23370084   PMID:23377317  
PMID:23383108   PMID:23389922   PMID:23418737   PMID:23418792   PMID:23441173   PMID:23485169   PMID:23497408   PMID:23500593   PMID:23504324   PMID:23509928   PMID:23527212   PMID:23585206  
PMID:23601157   PMID:23603351   PMID:23608755   PMID:23614742   PMID:23639976   PMID:23644699   PMID:23644943   PMID:23650722   PMID:23653009   PMID:23676485   PMID:23687338   PMID:23696797  
PMID:23705892   PMID:23708302   PMID:23744893   PMID:23762835   PMID:23763354   PMID:23776649   PMID:23794948   PMID:23800176   PMID:23800300   PMID:23814055   PMID:23815085   PMID:23819551  
PMID:23840483   PMID:23845380   PMID:23849018   PMID:23870768   PMID:23873107   PMID:23874603   PMID:23893803   PMID:23900981   PMID:23902766   PMID:23929359   PMID:23934131   PMID:23935888  
PMID:23946168   PMID:23978194   PMID:24001791   PMID:24025334   PMID:24043512   PMID:24058270   PMID:24063540   PMID:24075964   PMID:24134675   PMID:24202438   PMID:24212294   PMID:24268990  
PMID:24289089   PMID:24293148   PMID:24352036   PMID:24390660   PMID:24414606   PMID:24442990   PMID:24472657   PMID:24479343   PMID:24505358   PMID:24505369   PMID:24513266   PMID:24587395  
PMID:24637763   PMID:24755160   PMID:24760149   PMID:24792232   PMID:24805876   PMID:24834994   PMID:24838892   PMID:24843171   PMID:24899116   PMID:24959655   PMID:24972610   PMID:24973648  
PMID:24980707   PMID:24995609   PMID:25022892   PMID:25043669   PMID:25115393   PMID:25148204   PMID:25181017   PMID:25201474   PMID:25219839   PMID:25233933   PMID:25241761   PMID:25253367  
PMID:25257555   PMID:25263962   PMID:25269045   PMID:25291965   PMID:25312481   PMID:25319362   PMID:25372932   PMID:25391421   PMID:25391977   PMID:25496486   PMID:25527274   PMID:25530657  
PMID:25549795   PMID:25599395   PMID:25605062   PMID:25605938   PMID:25635325   PMID:25691572   PMID:25704319   PMID:25724359   PMID:25725450   PMID:25739290   PMID:25747934   PMID:25770908  
PMID:25798074   PMID:25854159   PMID:25856795   PMID:25863779   PMID:25950130   PMID:25977510   PMID:26018933   PMID:26074138   PMID:26120586   PMID:26130135   PMID:26215578   PMID:26260627  
PMID:26292968   PMID:26293377   PMID:26301605   PMID:26305549   PMID:26363461   PMID:26367274   PMID:26510114   PMID:26513020   PMID:26600542   PMID:26751737   PMID:26782559   PMID:26891870  
PMID:26900010   PMID:26926305   PMID:26960630   PMID:26973196   PMID:26995105   PMID:27017522   PMID:27060293   PMID:27072559   PMID:27130665   PMID:27138044   PMID:27173221   PMID:27245218  
PMID:27271323   PMID:27313452   PMID:27323171   PMID:27354591   PMID:27354592   PMID:27378148   PMID:27381606   PMID:27412345   PMID:27412967   PMID:27418197   PMID:27428613   PMID:27556208  
PMID:27630193   PMID:27653023   PMID:27659332   PMID:27659527   PMID:27693213   PMID:27706715   PMID:27733582   PMID:27754420   PMID:27771306   PMID:27793533   PMID:27797337   PMID:27798872  
PMID:27884164   PMID:27898420   PMID:28002595   PMID:28005267   PMID:28008134   PMID:28013036   PMID:28068631   PMID:28101856   PMID:28119029   PMID:28122331   PMID:28129430   PMID:28160256  
PMID:28238786   PMID:28262727   PMID:28262842   PMID:28334049   PMID:28367737   PMID:28379603   PMID:28387651   PMID:28398769   PMID:28447732   PMID:28497435   PMID:28543681   PMID:28551623  
PMID:28557373   PMID:28577062   PMID:28637905   PMID:28683186   PMID:28819304   PMID:28944430   PMID:28954603   PMID:28958661   PMID:28961241   PMID:29044936   PMID:29049163   PMID:29070037  
PMID:29096757   PMID:29115452   PMID:29122080   PMID:29132384   PMID:29215835   PMID:29217529   PMID:29249121   PMID:29250654   PMID:29263043   PMID:29277780   PMID:29290801   PMID:29317790  
PMID:29358561   PMID:29384216   PMID:29428815   PMID:29436615   PMID:29458338   PMID:29463039   PMID:29498767   PMID:29532899   PMID:29622563   PMID:29626520   PMID:29670668   PMID:29695550  
PMID:29763735   PMID:29883760   PMID:29947568   PMID:29970511   PMID:29987050   PMID:29992758   PMID:30015831   PMID:30117779   PMID:30171660   PMID:30177524   PMID:30221334   PMID:30327948  
PMID:30328228   PMID:30379883   PMID:30440036   PMID:30458287   PMID:30471916   PMID:30567303   PMID:30594980   PMID:30627228   PMID:30633757   PMID:30664222   PMID:30691874   PMID:30715578  
PMID:30789935   PMID:30825334   PMID:30886066   PMID:31001893   PMID:31080992   PMID:31115512   PMID:31124635   PMID:31129674   PMID:31215762   PMID:31244308   PMID:31264811   PMID:31311559  
PMID:31348577   PMID:31356534   PMID:31366549   PMID:31380578   PMID:31389576   PMID:31391080   PMID:31444694   PMID:31525531   PMID:31526198   PMID:31652448   PMID:31653934   PMID:31670855  
PMID:31677173   PMID:31903873   PMID:31917802   PMID:31932027   PMID:31977248   PMID:32014911   PMID:32218695   PMID:32317080   PMID:32323782   PMID:32350561   PMID:32417757   PMID:32437034  
PMID:32555355   PMID:32556014   PMID:32596320   PMID:32650441   PMID:32702237   PMID:32703314   PMID:32769324   PMID:32828277   PMID:33002044   PMID:33055012   PMID:33058879   PMID:33090337  
PMID:33157237   PMID:33170424   PMID:33309320   PMID:33331536   PMID:33391541   PMID:33396463   PMID:33449301   PMID:33487115   PMID:33597224   PMID:33684534   PMID:33737203   PMID:33761760  
PMID:33768649   PMID:33885811   PMID:33888009   PMID:33902302   PMID:34171070   PMID:34214240   PMID:34233423   PMID:34280010   PMID:34369270   PMID:34410940   PMID:34445715   PMID:34459757  
PMID:34477058   PMID:34495460   PMID:34561981   PMID:34568889   PMID:34587931   PMID:34693500   PMID:34969762   PMID:35095838   PMID:35168639   PMID:35254603   PMID:35426219   PMID:35463655  
PMID:35466619   PMID:35756415   PMID:35912721   PMID:35948625   PMID:36291686  


Genomics

Comparative Map Data
MMP1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3811102,789,919 - 102,798,160 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl11102,789,401 - 102,798,160 (-)EnsemblGRCh38hg38GRCh38
GRCh3711102,660,650 - 102,668,891 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3611102,165,861 - 102,174,104 (-)NCBINCBI36Build 36hg18NCBI36
Build 3411102,165,860 - 102,174,104NCBI
Celera1199,822,300 - 99,830,624 (-)NCBICelera
Cytogenetic Map11q22.2NCBI
HuRef1198,588,616 - 98,596,940 (-)NCBIHuRef
CHM1_111102,543,487 - 102,551,813 (-)NCBICHM1_1
T2T-CHM13v2.011102,793,739 - 102,801,980 (-)NCBIT2T-CHM13v2.0
Mmp1b
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3997,367,670 - 7,388,026 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl97,368,239 - 7,388,047 (-)EnsemblGRCm39 Ensembl
GRCm3897,367,670 - 7,388,026 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl97,368,239 - 7,388,047 (-)EnsemblGRCm38mm10GRCm38
MGSCv3797,367,670 - 7,388,026 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3697,368,237 - 7,387,993 (-)NCBIMGSCv36mm8
Celera94,767,814 - 4,788,756 (-)NCBICelera
Cytogenetic Map9A1NCBI
Mmp1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.284,658,588 - 4,679,099 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl84,658,588 - 4,679,097 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx88,618,256 - 8,638,758 (+)NCBIRnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.086,916,028 - 6,936,530 (+)NCBIRnor_SHRSP
UTH_Rnor_WKY_Bbb_1.084,918,249 - 4,938,764 (+)NCBIRnor_WKY
Rnor_6.085,703,206 - 5,723,593 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl85,703,206 - 5,723,591 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.085,706,054 - 5,726,441 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.484,333,773 - 4,354,284 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.184,333,814 - 4,353,725 (+)NCBI
Celera86,218,410 - 6,238,921 (+)NCBICelera
Cytogenetic Map8q11NCBI
MMP1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.111101,221,393 - 101,230,104 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl11101,221,393 - 101,230,104 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01197,730,545 - 97,739,190 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
MMP1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1528,978,385 - 28,986,644 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl528,978,473 - 28,986,648 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha528,926,897 - 28,935,120 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0529,029,643 - 29,038,059 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl529,029,685 - 29,075,950 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1529,064,653 - 29,073,076 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0528,944,064 - 28,952,288 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0529,119,065 - 29,127,510 (+)NCBIUU_Cfam_GSD_1.0
Mmp1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494786,361,179 - 86,368,526 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365515,168,044 - 5,174,857 (+)EnsemblSpeTri2.0
SpeTri2.0NW_0049365515,167,909 - 5,175,149 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MMP1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl933,411,065 - 33,420,076 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1933,411,738 - 33,420,205 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2937,358,454 - 37,367,107 (-)NCBISscrofa10.2Sscrofa10.2susScr3
MMP1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1194,167,507 - 94,177,357 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl194,167,219 - 94,176,767 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604331,701,312 - 31,710,000 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Mmp1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462487871,642 - 79,602 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462487871,642 - 79,660 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in MMP1
45 total Variants
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR222hsa-miR-222-3pMirecordsexternal_infoNANA19487542
MIR222hsa-miR-222-3pOncomiRDBexternal_infoNANA19487542

Predicted Target Of
Summary Value
Count of predictions:163
Count of miRNA genes:154
Interacting mature miRNAs:159
Transcripts:ENST00000315274
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
MMP1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711102,660,726 - 102,661,128UniSTSGRCh37
GRCh3711102,667,395 - 102,668,078UniSTSGRCh37
Build 3611102,165,936 - 102,166,338RGDNCBI36
Celera1199,829,054 - 99,829,737UniSTS
Celera1199,822,385 - 99,822,787RGD
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map11q22.2UniSTS
HuRef1198,595,370 - 98,596,053UniSTS
HuRef1198,588,701 - 98,589,103UniSTS
GeneMap99-GB4 RH Map11352.42UniSTS
NCBI RH Map11903.0UniSTS
SHGC-82595  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711102,667,789 - 102,668,119UniSTSGRCh37
Build 3611102,172,999 - 102,173,329RGDNCBI36
Celera1199,829,448 - 99,829,778RGD
Cytogenetic Map11q22.2UniSTS
Cytogenetic Map11q22.3UniSTS
HuRef1198,595,764 - 98,596,094UniSTS
TNG Radiation Hybrid Map1147470.0UniSTS
G54104  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711102,660,835 - 102,660,950UniSTSGRCh37
Build 3611102,166,045 - 102,166,160RGDNCBI36
Celera1199,822,494 - 99,822,609RGD
Cytogenetic Map11q22.2UniSTS
Cytogenetic Map11q22.3UniSTS
HuRef1198,588,810 - 98,588,925UniSTS
GDB:197898  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711102,668,768 - 102,669,229UniSTSGRCh37
Build 3611102,173,978 - 102,174,439RGDNCBI36
Celera1199,830,426 - 99,830,887RGD
Cytogenetic Map11q22.2UniSTS
Cytogenetic Map11q22.3UniSTS
HuRef1198,596,742 - 98,597,203UniSTS
PMC125702P3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711102,668,875 - 102,669,122UniSTSGRCh37
Build 3611102,174,085 - 102,174,332RGDNCBI36
Celera1199,830,533 - 99,830,780RGD
Cytogenetic Map11q22.2UniSTS
Cytogenetic Map11q22.3UniSTS
HuRef1198,596,849 - 98,597,096UniSTS
PMC125702P5  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711102,663,354 - 102,663,463UniSTSGRCh37
Build 3611102,168,564 - 102,168,673RGDNCBI36
Celera1199,825,013 - 99,825,122RGD
Cytogenetic Map11q22.2UniSTS
Cytogenetic Map11q22.3UniSTS
HuRef1198,591,329 - 98,591,438UniSTS
PMC151710P3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711102,668,922 - 102,669,103UniSTSGRCh37
Build 3611102,174,132 - 102,174,313RGDNCBI36
Celera1199,830,580 - 99,830,761RGD
Cytogenetic Map11q22.2UniSTS
Cytogenetic Map11q22.3UniSTS
HuRef1198,596,896 - 98,597,077UniSTS
PMC151710P4  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711102,660,729 - 102,660,849UniSTSGRCh37
Build 3611102,165,939 - 102,166,059RGDNCBI36
Celera1199,822,388 - 99,822,508RGD
Cytogenetic Map11q22.2UniSTS
Cytogenetic Map11q22.3UniSTS
HuRef1198,588,704 - 98,588,824UniSTS
PMC65699P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711102,661,154 - 102,661,507UniSTSGRCh37
Build 3611102,166,364 - 102,166,717RGDNCBI36
Celera1199,822,813 - 99,823,166RGD
Cytogenetic Map11q22.2UniSTS
Cytogenetic Map11q22.3UniSTS
HuRef1198,589,129 - 98,589,482UniSTS
SHGC-11954  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711102,660,835 - 102,660,957UniSTSGRCh37
Build 3611102,166,045 - 102,166,167RGDNCBI36
Celera1199,822,494 - 99,822,616RGD
Cytogenetic Map11q22.2UniSTS
Cytogenetic Map11q22.3UniSTS
HuRef1198,588,810 - 98,588,932UniSTS
Stanford-G3 RH Map114497.0UniSTS
NCBI RH Map11888.1UniSTS
GeneMap99-G3 RH Map114497.0UniSTS
RH17661  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711102,660,705 - 102,660,841UniSTSGRCh37
Build 3611102,165,915 - 102,166,051RGDNCBI36
Celera1199,822,364 - 99,822,500RGD
Cytogenetic Map11q22.2UniSTS
Cytogenetic Map11q22.3UniSTS
HuRef1198,588,680 - 98,588,816UniSTS
GeneMap99-GB4 RH Map11351.61UniSTS
MMP1_3098  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711102,660,654 - 102,661,223UniSTSGRCh37
Build 3611102,165,864 - 102,166,433RGDNCBI36
Celera1199,822,313 - 99,822,882RGD
HuRef1198,588,629 - 98,589,198UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component
High 8 2 1 2 9 5 2 2 8 10 1
Medium 352 12 29 33 78 23 53 12 30 55 86 239 18 6 6 1
Low 667 351 307 175 533 102 515 129 130 207 337 590 78 1 219 210 2
Below cutoff 875 1681 906 296 616 230 2376 1181 1549 131 730 571 68 708 1531

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_011740 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001145938 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002421 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF007878 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF023338 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ002550 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK024818 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK098450 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK130687 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK223034 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK223035 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK223036 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK223056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK223281 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225495 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297723 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301340 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP000619 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY769434 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC013118 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC013875 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT006874 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT020147 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC385245 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ399597 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF583680 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M13509 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M15996 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M16567 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U78045 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X05231 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X54925 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000315274   ⟹   ENSP00000322788
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11102,789,919 - 102,798,160 (-)Ensembl
RefSeq Acc Id: ENST00000680179
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11102,789,401 - 102,794,463 (-)Ensembl
RefSeq Acc Id: ENST00000681445
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11102,789,401 - 102,793,233 (-)Ensembl
RefSeq Acc Id: ENST00000681643
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11102,789,401 - 102,792,837 (-)Ensembl
RefSeq Acc Id: NM_001145938   ⟹   NP_001139410
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811102,789,919 - 102,798,160 (-)NCBI
GRCh3711102,660,641 - 102,668,966 (-)ENTREZGENE
HuRef1198,588,616 - 98,596,940 (-)ENTREZGENE
CHM1_111102,543,487 - 102,551,813 (-)NCBI
T2T-CHM13v2.011102,793,739 - 102,801,980 (-)NCBI
Sequence:
RefSeq Acc Id: NM_002421   ⟹   NP_002412
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811102,789,919 - 102,798,160 (-)NCBI
GRCh3711102,660,641 - 102,668,966 (-)ENTREZGENE
Build 3611102,165,861 - 102,174,104 (-)NCBI Archive
HuRef1198,588,616 - 98,596,940 (-)ENTREZGENE
CHM1_111102,543,487 - 102,551,813 (-)NCBI
T2T-CHM13v2.011102,793,739 - 102,801,980 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001139410   ⟸   NM_001145938
- Peptide Label: isoform 2
- UniProtKB: B4DN15 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_002412   ⟸   NM_002421
- Peptide Label: isoform 1 preproprotein
- UniProtKB: P08156 (UniProtKB/Swiss-Prot),   P03956 (UniProtKB/Swiss-Prot),   Q53G95 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000322788   ⟸   ENST00000315274
Protein Domains
Peptidase_M10   ZnMc

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P03956-F1-model_v2 AlphaFold P03956 1-469 view protein structure

Promoters
RGD ID:6849888
Promoter ID:EP15034
Type:single initiation site
Name:HS_MMP1
Description:Collagenase, Matrix metalloproteinase-1, MMP1 or CLG gene.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Notes:homology_group=Homology group 174; Mammalian collagenase.
Experiment Methods:Nuclease protection; Sequencing of a full-length cDNA; Primer extension; transfected or transformed cells
Regulation:fibroblasts; (induced by or strongly expressed in) TPA
Position:
Human AssemblyChrPosition (strand)Source
Build 3611102,174,099 - 102,174,159EPD
RGD ID:7221923
Promoter ID:EPDNEW_H16708
Type:initiation region
Name:MMP1_1
Description:matrix metallopeptidase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811102,798,158 - 102,798,218EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_002421.3(MMP1):c.-1673G= single nucleotide variant Pulmonary disease, chronic obstructive, rate of decline of lung function in [RCV000018649] Chr11:102799765 [GRCh38]
Chr11:102670496 [GRCh37]
Chr11:11q22.2
pathogenic|risk factor
GRCh38/hg38 11q14.1-22.3(chr11:78232836-106779420)x1 copy number loss See cases [RCV000052710] Chr11:78232836..106779420 [GRCh38]
Chr11:77943882..106650146 [GRCh37]
Chr11:77621530..106155356 [NCBI36]
Chr11:11q14.1-22.3
pathogenic
GRCh38/hg38 11q14.1-22.2(chr11:85242847-102920097)x1 copy number loss See cases [RCV000052711] Chr11:85242847..102920097 [GRCh38]
Chr11:84953891..102738968 [GRCh37]
Chr11:84631539..102296037 [NCBI36]
Chr11:11q14.1-22.2
pathogenic
GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3 copy number gain See cases [RCV000053638] Chr11:100348599..135040246 [GRCh38]
Chr11:100219331..134910140 [GRCh37]
Chr11:99724541..134415350 [NCBI36]
Chr11:11q22.1-25
pathogenic
NM_002421.3(MMP1):c.821C>T (p.Thr274Ile) single nucleotide variant Malignant melanoma [RCV000062116] Chr11:102795252 [GRCh38]
Chr11:102665983 [GRCh37]
Chr11:102171193 [NCBI36]
Chr11:11q22.2
not provided
NM_002421.3(MMP1):c.351G>A (p.Arg117=) single nucleotide variant Malignant melanoma [RCV000062117] Chr11:102797162 [GRCh38]
Chr11:102667893 [GRCh37]
Chr11:102173103 [NCBI36]
Chr11:11q22.2
not provided
GRCh38/hg38 11q22.1-22.3(chr11:98357901-106059146)x1 copy number loss See cases [RCV000136574] Chr11:98357901..106059146 [GRCh38]
Chr11:98228629..105929873 [GRCh37]
Chr11:97733839..105435083 [NCBI36]
Chr11:11q22.1-22.3
pathogenic
GRCh38/hg38 11q22.1-22.3(chr11:101452984-104044105)x3 copy number gain See cases [RCV000136846] Chr11:101452984..104044105 [GRCh38]
Chr11:101323715..103914833 [GRCh37]
Chr11:100828925..103420043 [NCBI36]
Chr11:11q22.1-22.3
pathogenic
GRCh38/hg38 11q14.3-22.3(chr11:91086659-109595582)x1 copy number loss See cases [RCV000138038] Chr11:91086659..109595582 [GRCh38]
Chr11:90819827..109466308 [GRCh37]
Chr11:90459475..108971518 [NCBI36]
Chr11:11q14.3-22.3
pathogenic
GRCh37/hg19 11q22.2(chr11:102642841-102826187)x1 copy number loss See cases [RCV000448411] Chr11:102642841..102826187 [GRCh37]
Chr11:11q22.2
uncertain significance
NM_002421.4(MMP1):c.900-13T>A single nucleotide variant not specified [RCV000454837] Chr11:102792751 [GRCh38]
Chr11:102663482 [GRCh37]
Chr11:11q22.2
benign
NM_002421.4(MMP1):c.315G>A (p.Gly105=) single nucleotide variant not provided [RCV001653799]|not specified [RCV000454871] Chr11:102797291 [GRCh38]
Chr11:102668022 [GRCh37]
Chr11:11q22.2
benign
NM_002421.4(MMP1):c.831G>A (p.Ala277=) single nucleotide variant not specified [RCV000455534] Chr11:102795242 [GRCh38]
Chr11:102665973 [GRCh37]
Chr11:11q22.2
benign
NM_002421.4(MMP1):c.900-8dup duplication not specified [RCV000455930] Chr11:102792745..102792746 [GRCh38]
Chr11:102663476..102663477 [GRCh37]
Chr11:11q22.2
benign
NM_002421.4(MMP1):c.648A>G (p.Ala216=) single nucleotide variant not provided [RCV001618694]|not specified [RCV000456077] Chr11:102795585 [GRCh38]
Chr11:102666316 [GRCh37]
Chr11:11q22.2
benign
GRCh37/hg19 11q14.2-22.3(chr11:88152458-109414650)x1 copy number loss See cases [RCV000510457] Chr11:88152458..109414650 [GRCh37]
Chr11:11q14.2-22.3
pathogenic
GRCh37/hg19 11q22.1-22.3(chr11:98515900-104970876)x1 copy number loss See cases [RCV000511844] Chr11:98515900..104970876 [GRCh37]
Chr11:11q22.1-22.3
likely pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
NM_002421.4(MMP1):c.988del (p.Ala330fs) deletion Idiopathic Pulmonary Fibrosis [RCV000677219] Chr11:102792650 [GRCh38]
Chr11:102663381 [GRCh37]
Chr11:11q22.2
uncertain significance
GRCh37/hg19 11q22.2-22.3(chr11:102578709-107230611)x1 copy number loss not provided [RCV000683366] Chr11:102578709..107230611 [GRCh37]
Chr11:11q22.2-22.3
likely pathogenic
GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3 copy number gain not provided [RCV000683374] Chr11:71588805..116680918 [GRCh37]
Chr11:11q13.4-23.3
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11q14.1-23.2(chr11:80053454-113316236)x1 copy number loss not provided [RCV000737595] Chr11:80053454..113316236 [GRCh37]
Chr11:11q14.1-23.2
pathogenic
NM_002421.4(MMP1):c.1197-220C>T single nucleotide variant not provided [RCV001669293] Chr11:102791026 [GRCh38]
Chr11:102661757 [GRCh37]
Chr11:11q22.2
benign
NM_002421.4(MMP1):c.781+19A>G single nucleotide variant not provided [RCV001709367] Chr11:102795433 [GRCh38]
Chr11:102666164 [GRCh37]
Chr11:11q22.2
benign
NM_002421.4(MMP1):c.105+115del deletion Preterm premature rupture of membranes [RCV000988627]|not provided [RCV001692334] Chr11:102797873 [GRCh38]
Chr11:102668604 [GRCh37]
Chr11:11q22.2
benign
NM_002421.4(MMP1):c.105+114_105+115del deletion not provided [RCV001648378] Chr11:102797873..102797874 [GRCh38]
Chr11:102668604..102668605 [GRCh37]
Chr11:11q22.2
benign
NM_002421.4(MMP1):c.365C>T (p.Thr122Met) single nucleotide variant not provided [RCV000925656] Chr11:102797148 [GRCh38]
Chr11:102667879 [GRCh37]
Chr11:11q22.2
likely benign
NM_002421.4(MMP1):c.248C>A (p.Thr83Asn) single nucleotide variant not provided [RCV000892523] Chr11:102797358 [GRCh38]
Chr11:102668089 [GRCh37]
Chr11:11q22.2
likely benign
NM_002421.4(MMP1):c.33G>A (p.Leu11=) single nucleotide variant not provided [RCV000943286] Chr11:102798060 [GRCh38]
Chr11:102668791 [GRCh37]
Chr11:11q22.2
likely benign
NM_002421.4(MMP1):c.571A>G (p.Ile191Val) single nucleotide variant not provided [RCV000971017] Chr11:102796718 [GRCh38]
Chr11:102667449 [GRCh37]
Chr11:11q22.2
likely benign
NM_002421.4(MMP1):c.1120G>A (p.Val374Met) single nucleotide variant not provided [RCV000947380] Chr11:102791409 [GRCh38]
Chr11:102662140 [GRCh37]
Chr11:11q22.2
benign
NM_002421.4(MMP1):c.1299T>C (p.Asp433=) single nucleotide variant not provided [RCV000964324] Chr11:102790704 [GRCh38]
Chr11:102661435 [GRCh37]
Chr11:11q22.2
benign
NM_002421.4(MMP1):c.350+4G>A single nucleotide variant not provided [RCV000922311] Chr11:102797252 [GRCh38]
Chr11:102667983 [GRCh37]
Chr11:11q22.2
likely benign
NM_002421.4(MMP1):c.*63C>T single nucleotide variant not provided [RCV001619031] Chr11:102790349 [GRCh38]
Chr11:102661080 [GRCh37]
Chr11:11q22.2
benign
Single allele single nucleotide variant not provided [RCV001675486] Chr11:102798499 [GRCh38]
Chr11:102669230 [GRCh37]
Chr11:11q22.2
benign
NM_002421.4(MMP1):c.782-21T>C single nucleotide variant not provided [RCV001693789] Chr11:102795312 [GRCh38]
Chr11:102666043 [GRCh37]
Chr11:11q22.2
benign
NM_002421.4(MMP1):c.782-15T>C single nucleotide variant not provided [RCV001676105] Chr11:102795306 [GRCh38]
Chr11:102666037 [GRCh37]
Chr11:11q22.2
benign
NM_002421.4(MMP1):c.900-34A>G single nucleotide variant not provided [RCV001717814] Chr11:102792772 [GRCh38]
Chr11:102663503 [GRCh37]
Chr11:11q22.2
benign
NM_002421.4(MMP1):c.1301-24A>C single nucleotide variant not provided [RCV001669274] Chr11:102790545 [GRCh38]
Chr11:102661276 [GRCh37]
Chr11:11q22.2
benign
NM_002421.4(MMP1):c.626-317C>A single nucleotide variant not provided [RCV001594644] Chr11:102795924 [GRCh38]
Chr11:102666655 [GRCh37]
Chr11:11q22.2
benign
NM_002421.4(MMP1):c.*184T>C single nucleotide variant not provided [RCV001653408] Chr11:102790228 [GRCh38]
Chr11:102660959 [GRCh37]
Chr11:11q22.2
benign
NM_002421.4(MMP1):c.1216T>A (p.Ser406Thr) single nucleotide variant not provided [RCV000883956] Chr11:102790787 [GRCh38]
Chr11:102661518 [GRCh37]
Chr11:11q22.2
likely benign
NM_002421.4(MMP1):c.996C>T (p.Tyr332=) single nucleotide variant not provided [RCV000911766] Chr11:102792642 [GRCh38]
Chr11:102663373 [GRCh37]
Chr11:11q22.2
likely benign
Single allele single nucleotide variant not provided [RCV001639116] Chr11:102798479 [GRCh38]
Chr11:102669210 [GRCh37]
Chr11:11q22.2
benign
NM_002421.4(MMP1):c.899+236A>G single nucleotide variant not provided [RCV001621606] Chr11:102794938 [GRCh38]
Chr11:102665669 [GRCh37]
Chr11:11q22.2
benign
NM_002421.4(MMP1):c.*269C>T single nucleotide variant not provided [RCV001678429] Chr11:102790143 [GRCh38]
Chr11:102660874 [GRCh37]
Chr11:11q22.2
benign
NM_002421.4(MMP1):c.105+17A>G single nucleotide variant not provided [RCV001617959] Chr11:102797971 [GRCh38]
Chr11:102668702 [GRCh37]
Chr11:11q22.2
benign
NM_002421.4(MMP1):c.1197-128C>T single nucleotide variant not provided [RCV001698520] Chr11:102790934 [GRCh38]
Chr11:102661665 [GRCh37]
Chr11:11q22.2
benign
NM_002421.4(MMP1):c.1034-240A>G single nucleotide variant not provided [RCV001681802] Chr11:102791735 [GRCh38]
Chr11:102662466 [GRCh37]
Chr11:11q22.2
benign
Single allele single nucleotide variant not provided [RCV001612115] Chr11:102798678 [GRCh38]
Chr11:102669409 [GRCh37]
Chr11:11q22.2
benign
NM_002421.4(MMP1):c.105+32A>C single nucleotide variant not provided [RCV001710025] Chr11:102797956 [GRCh38]
Chr11:102668687 [GRCh37]
Chr11:11q22.2
benign
NM_002421.4(MMP1):c.1196+251C>G single nucleotide variant not provided [RCV001709267] Chr11:102791082 [GRCh38]
Chr11:102661813 [GRCh37]
Chr11:11q22.2
benign
Single allele deletion Intellectual disability [RCV001293382] Chr11:118359328..118372573 [GRCh37]
Chr11:11p15.3-q23.3
pathogenic
NM_002421.4(MMP1):c.1197-58T>C single nucleotide variant not provided [RCV001539693] Chr11:102790864 [GRCh38]
Chr11:102661595 [GRCh37]
Chr11:11q22.2
benign
NM_002421.4(MMP1):c.1213C>T (p.Arg405Ter) single nucleotide variant Chronic obstructive pulmonary disease [RCV001335939] Chr11:102790790 [GRCh38]
Chr11:102661521 [GRCh37]
Chr11:11q22.2
pathogenic
NM_002421.4(MMP1):c.782-2A>G single nucleotide variant Chronic obstructive pulmonary disease [RCV001330928] Chr11:102795293 [GRCh38]
Chr11:102666024 [GRCh37]
Chr11:11q22.2
pathogenic
NM_002421.4(MMP1):c.105+2T>C single nucleotide variant Chronic obstructive pulmonary disease [RCV001293911] Chr11:102797986 [GRCh38]
Chr11:102668717 [GRCh37]
Chr11:11q22.2
pathogenic
NM_002421.4(MMP1):c.1300+1G>T single nucleotide variant Chronic obstructive pulmonary disease [RCV001330926] Chr11:102790702 [GRCh38]
Chr11:102661433 [GRCh37]
Chr11:11q22.2
pathogenic
NM_002421.4(MMP1):c.79C>T (p.Gln27Ter) single nucleotide variant Chronic obstructive pulmonary disease [RCV001335940] Chr11:102798014 [GRCh38]
Chr11:102668745 [GRCh37]
Chr11:11q22.2
pathogenic
NC_000011.9:g.(?_94153285)_(111965700_?)del deletion Ataxia-telangiectasia syndrome [RCV001389105] Chr11:94153285..111965700 [GRCh37]
Chr11:11q21-23.1
pathogenic
NM_002421.4(MMP1):c.27del (p.Leu10fs) deletion Chronic obstructive pulmonary disease [RCV001330927] Chr11:102798066 [GRCh38]
Chr11:102668797 [GRCh37]
Chr11:11q22.2
pathogenic
NM_002421.4(MMP1):c.900-239A>C single nucleotide variant not provided [RCV001530545] Chr11:102792977 [GRCh38]
Chr11:102663708 [GRCh37]
Chr11:11q22.2
benign
NM_002421.4(MMP1):c.626-219G>T single nucleotide variant not provided [RCV001694741] Chr11:102795826 [GRCh38]
Chr11:102666557 [GRCh37]
Chr11:11q22.2
benign
NM_002421.4(MMP1):c.899+221T>A single nucleotide variant not provided [RCV001695357] Chr11:102794953 [GRCh38]
Chr11:102665684 [GRCh37]
Chr11:11q22.2
benign
NM_002421.4(MMP1):c.*44A>G single nucleotide variant not provided [RCV001654020] Chr11:102790368 [GRCh38]
Chr11:102661099 [GRCh37]
Chr11:11q22.2
benign
NM_002421.4(MMP1):c.-59C>T single nucleotide variant not provided [RCV001695772] Chr11:102798151 [GRCh38]
Chr11:102668882 [GRCh37]
Chr11:11q22.2
benign
NM_002421.4(MMP1):c.625+332G>A single nucleotide variant not provided [RCV001683928] Chr11:102796332 [GRCh38]
Chr11:102667063 [GRCh37]
Chr11:11q22.2
benign
NM_002421.4(MMP1):c.105+33A>T single nucleotide variant not provided [RCV001616660] Chr11:102797955 [GRCh38]
Chr11:102668686 [GRCh37]
Chr11:11q22.2
benign
GRCh37/hg19 11q14.1-23.3(chr11:85422071-118022671)x1 copy number loss not provided [RCV001832892] Chr11:85422071..118022671 [GRCh37]
Chr11:11q14.1-23.3
uncertain significance
GRCh37/hg19 11q22.2(chr11:102308740-102676879) copy number gain not specified [RCV002052953] Chr11:102308740..102676879 [GRCh37]
Chr11:11q22.2
uncertain significance
NC_000011.9:g.(?_101323686)_(103349981_?)del deletion Jeune thoracic dystrophy [RCV001942288]|not provided [RCV001942287] Chr11:101323686..103349981 [GRCh37]
Chr11:11q22.1-22.3
pathogenic
NM_002421.4(MMP1):c.1389G>A (p.Trp463Ter) single nucleotide variant not specified [RCV002247982] Chr11:102790433 [GRCh38]
Chr11:102661164 [GRCh37]
Chr11:11q22.2
uncertain significance
GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3 copy number gain MISSED ABORTION [RCV002282973] Chr11:32799481..134938470 [GRCh37]
Chr11:11p13-q25
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7155 AgrOrtholog
COSMIC MMP1 COSMIC
Ensembl Genes ENSG00000196611 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000322788 ENTREZGENE
  ENSP00000322788.6 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000315274 ENTREZGENE
  ENST00000315274.7 UniProtKB/Swiss-Prot
Gene3D-CATH 2.110.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.390.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000196611 GTEx
HGNC ID HGNC:7155 ENTREZGENE
Human Proteome Map MMP1 Human Proteome Map
InterPro Hemopexin-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Hemopexin-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Hemopexin-like_repeat UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Hemopexin_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  M10A_MMP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MetalloPept_cat_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pept_M10_metallopeptidase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pept_M10A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pept_M10A_Zn_BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_Metallo UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidoglycan-bd-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PGBD-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:4312 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 4312 ENTREZGENE
OMIM 120353 OMIM
  226600 OMIM
  606963 OMIM
Pfam Hemopexin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_M10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PG_binding_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA30867 PharmGKB
PIRSF Peptidase_M10A_matrix UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PRINTS MATRIXIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE CYSTEINE_SWITCH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HEMOPEXIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HEMOPEXIN_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZINC_PROTEASE UniProtKB/Swiss-Prot
SMART SM00120 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZnMc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47090 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF50923 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A5GZ69_HUMAN UniProtKB/TrEMBL
  B4DN15 ENTREZGENE, UniProtKB/TrEMBL
  L8EC95_HUMAN UniProtKB/TrEMBL
  MMP1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  P08156 ENTREZGENE
  Q53G95 ENTREZGENE, UniProtKB/TrEMBL
  Q96DZ4_HUMAN UniProtKB/TrEMBL
UniProt Secondary P08156 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-03-03 MMP1  matrix metallopeptidase 1  MMP1  matrix metallopeptidase 1 (interstitial collagenase)  Symbol and/or name change 5135510 APPROVED