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
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. 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 COVID-19; artery disease (multiple); arthritis (multiple); idiopathic pulmonary fibrosis; and immunoglobulin light chain amyloidosis.
Type: protein-coding
RefSeq Status: REVIEWED
Also 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
GRCh38.p13 Ensembl11102,789,401 - 102,798,160 (-)EnsemblGRCh38hg38GRCh38
GRCh3811102,789,919 - 102,798,160 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh3711102,660,650 - 102,668,891 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3611102,165,861 - 102,174,104 (-)NCBINCBI36hg18NCBI36
Build 3411102,165,860 - 102,174,104NCBI
Celera1199,822,300 - 99,830,624 (-)NCBI
Cytogenetic Map11q22.2NCBI
HuRef1198,588,616 - 98,596,940 (-)NCBIHuRef
CHM1_111102,543,487 - 102,551,813 (-)NCBICHM1_1
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)
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)
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)
Mammary Neoplasms, Experimental  (IMP)
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)
recessive dystrophic epidermolysis bullosa  (IEA)
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)
2,4,6-trinitrobenzenesulfonic acid  (ISO)
2-amino-2-deoxy-D-glucopyranose  (EXP)
2-hydroxypropanoic acid  (EXP)
2-trans,6-trans,10-trans-geranylgeranyl diphosphate  (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)
anandamide  (EXP)
anthra[1,9-cd]pyrazol-6(2H)-one  (EXP)
apigenin  (EXP)
Arg-Gly-Asp  (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)
chloropicrin  (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)
crocidolite asbestos  (EXP)
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)
dieckol  (EXP)
diethyl maleate  (EXP)
dimethyl sulfoxide  (EXP)
dimethylarsinous acid  (EXP)
dinophysistoxin 1  (EXP)
dioxygen  (EXP)
diuron  (EXP)
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)
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-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-butyl-DL-homocysteine (S,R)-sulfoximine  (EXP)
SB 203580  (EXP)
selumetinib  (EXP)
senecionine  (EXP)
Senkirkine  (EXP)
serpentine asbestos  (EXP)
silicon dioxide  (EXP)
simvastatin  (EXP)
sirolimus  (EXP)
sodium arsenite  (EXP)
sodium azide  (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)
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)
vemurafenib  (EXP)
vincaleukoblastine  (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 blistering of the skin  (IAGP)
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)
Abnormality of bladder morphology  (IAGP)
Abnormality of blood and blood-forming tissues  (IAGP)
Abnormality of head or neck  (IAGP)
Abnormality of the uterine cervix  (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)
Fragile skin  (IAGP)
Gastroesophageal reflux  (IAGP)
Gastrointestinal inflammation  (IAGP)
Genital blistering  (IAGP)
Glomerulonephritis  (IAGP)
Growth delay  (IAGP)
IgA deposition in the glomerulus  (IAGP)
Intellectual disability  (IAGP)
Iron deficiency anemia  (IAGP)
Joint contractures involving the joints of the feet  (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)
Urethral stricture  (IAGP)
Urinary bladder sphincter dysfunction  (IAGP)
Visual loss  (IAGP)
References

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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:33170424  
PMID:33309320   PMID:33331536   PMID:33396463   PMID:33449301   PMID:33761760  


Genomics

Comparative Map Data
MMP1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl11102,789,401 - 102,798,160 (-)EnsemblGRCh38hg38GRCh38
GRCh3811102,789,919 - 102,798,160 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh3711102,660,650 - 102,668,891 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3611102,165,861 - 102,174,104 (-)NCBINCBI36hg18NCBI36
Build 3411102,165,860 - 102,174,104NCBI
Celera1199,822,300 - 99,830,624 (-)NCBI
Cytogenetic Map11q22.2NCBI
HuRef1198,588,616 - 98,596,940 (-)NCBIHuRef
CHM1_111102,543,487 - 102,551,813 (-)NCBICHM1_1
Mmp1b
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3997,367,670 - 7,388,026 (-)NCBIGRCm39mm39
GRCm39 Ensembl97,368,239 - 7,388,047 (-)Ensembl
GRCm3897,367,670 - 7,388,026 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl97,368,239 - 7,388,047 (-)EnsemblGRCm38mm10GRCm38
MGSCv3797,367,670 - 7,388,026 (-)NCBIGRCm37mm9NCBIm37
MGSCv3697,368,237 - 7,387,993 (-)NCBImm8
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 (+)NCBI
Rnor_6.0 Ensembl85,703,206 - 5,723,591 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.085,703,206 - 5,723,593 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.085,706,054 - 5,726,441 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.484,333,773 - 4,354,284 (+)NCBIRGSC3.4rn4RGSC3.4
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_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 (+)NCBI
ROS_Cfam_1.0529,029,643 - 29,038,059 (+)NCBI
UMICH_Zoey_3.1529,064,653 - 29,073,076 (+)NCBI
UNSW_CanFamBas_1.0528,944,064 - 28,952,288 (+)NCBI
UU_Cfam_GSD_1.0529,119,065 - 29,127,510 (+)NCBI
Mmp1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494786,361,179 - 86,368,526 (-)NCBI
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 - 33,454,000 (-)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 (-)NCBI
ChlSab1.1 Ensembl194,167,219 - 94,176,767 (-)Ensembl
Vero_WHO_p1.0NW_02366604331,701,312 - 31,710,000 (+)NCBI
Mmp1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462487871,642 - 79,660 (+)NCBI

Position Markers
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

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.


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
  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
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
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: P03956 (UniProtKB/Swiss-Prot),   Q53G95 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000322788   ⟸   ENST00000315274
Protein Domains
Peptidase_M10   ZnMc

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 Epidermolysis bullosa dystrophica, autosomal recessive, modifier of [RCV000018650]|Preterm premature rupture of membranes [RCV000018651]|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 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 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.105+115del deletion Preterm premature rupture of membranes [RCV000988627] Chr11:102797873 [GRCh38]
Chr11:102668604 [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.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 deletion Intellectual disability [RCV001293382] Chr11:118359328..118372573 [GRCh37]
Chr11:11p15.3-q23.3
pathogenic
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

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, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000315274 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.101.10 UniProtKB/TrEMBL
  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
  PGBDSf 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
  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