mutLBSgeneDB

mutLBSgeneDB
mutated Ligand Binding Site gene DataBase

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Gene Summary

Ligand Binding Site Mutation Information

Protein Structure Related Information

Gene Expression and Gene-Gene Network

Phenotype Information

Pharmacological Information

Conservation Information for LBS

Gene summary for MMP1
Gene summary
Basic gene Info.Gene symbolMMP1
Gene namematrix metallopeptidase 1 (interstitial collagenase)
SynonymsCLG|CLGN
CytomapUCSC genome browser: 11q22.3
Type of geneprotein-coding
RefGenesNM_001145938.1,
NM_002421.3,
Descriptionfibroblast collagenaseinterstitial collagenasematrix metalloprotease 1matrix metalloproteinase 1
Modification date20141222
dbXrefs MIM : 120353
HGNC : HGNC
Ensembl : ENSG00000196611
HPRD : 00384
Vega : OTTHUMG00000048192
ProteinUniProt: P03956
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_MMP1
BioGPS: 4312
PathwayNCI Pathway Interaction Database: MMP1
KEGG: MMP1
REACTOME: MMP1
Pathway Commons: MMP1
ContextiHOP: MMP1
ligand binding site mutation search in PubMed: MMP1
UCL Cancer Institute: MMP1
Assigned class in mutLBSgeneDBB: This gene belongs to targetable_mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO TermPubMed ID
GO:0006508proteolysis15863497
GO:0032461positive regulation of protein oligomerization19022250


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Ligand binding site mutations for MMP1
Lollipop-style diagram of mutations at LBS in amino-acid sequence.
We represented ligand binding site mutations only. (You can see big image via clicking.)
 : non-synonymous mutation on LBS, Circle size denotes number of samples.

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
D285D285EGBM1
R214R214CHNSC1
H222L224VHNSC1
Y210N211YLUAD1
R214R214SLUAD1
F174F174SLUSC1
D285A286DLUSC1
G179G179ESKCM1
D285A286VSTAD1
H183H183RSTAD1
R214R214CUCEC1
V164,M160S162YUCEC1
cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma.


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Protein structure related information for MMP1
Relative protein structure stability change (ΔΔE) using Mupro 1.1
Mupro score denotes assessment of the effect of mutations on thermodynamic stability.
  (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability)
: nsSNV at non-LBS: nsSNV at LBS

nsSNVs sorted by the relative stability change of protein structure by each mutation
Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene.
LBSAAchange of nsSNVRelative stability change
G179G179E0.10300584
F174F174S-1.6202629
D285A286D-1.0684882
R214R214S-1.02684
V164S162Y-0.78933681
M160S162Y-0.78933681
R214R214C-0.76921105
D285A286V-0.69153958
H183H183R-0.59916904
D285D285E-0.48009755
Y210N211Y-0.26704368
H222L224V-0.16407072
(MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132)

Structure image for MMP1 from PDB

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Differential gene expression and gene-gene network for MMP1
Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types

Differential co-expressed gene network based on protein-protein interaction data (CePIN)
* Left PPI network was created from samples with mutations in the LBS of MMP1 and the right PPI network was created from samples without mutations in the LBS of MMP1. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


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Phenotype information for MMP1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0027627Neoplasm Metastasis63AlteredExpression, Biomarker, GeneticVariation
umls:C0024117Pulmonary Disease, Chronic Obstructive16AlteredExpression, Biomarker, GeneticVariation
umls:C1458155Breast Neoplasms14AlteredExpression, Biomarker, GeneticVariation
umls:C0004153Atherosclerosis12AlteredExpression, Biomarker, GeneticVariation
umls:C0009404Colorectal Neoplasms11AlteredExpression, Biomarker, GeneticVariation
umls:C0024121Lung Neoplasms8AlteredExpression, Biomarker, GeneticVariation
umls:C0029172Oral Submucous Fibrosis5Biomarker, GeneticVariation
umls:C0007131Carcinoma, Non-Small-Cell Lung4Biomarker, GeneticVariation
umls:C0027626Neoplasm Invasiveness3AlteredExpression, Biomarker, GeneticVariation
umls:C0002940Aneurysm2Biomarker
umls:C0079294Epidermolysis Bullosa Dystrophica1Biomarker
umls:C0017661Glomerulonephritis, IGA1Biomarker
umls:C0023893Liver Cirrhosis, Experimental1Therapeutic
umls:C0400966Non-alcoholic Fatty Liver Disease1Biomarker
umls:C0028840Ocular Hypertension1Therapeutic

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype IDs

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Pharmacological information for MMP1
Gene expression profile of anticancer drug treated cell-lines (CCLE)
Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient.

Gene-centered drug-gene interaction network
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure
Approved|investigationalDB00786MarimastatSmall molecule
ExperimentalDB07556N-HYDROXY-2(R)-[[(4-METHOXYPHENYL)SULFONYL](3-PICOLYL)AMINO]-3-METHYLBUTANAMIDE HYDROCHLORIDESmall molecule
ExperimentalDB07926N-[3-(N'-HYDROXYCARBOXAMIDO)-2-(2-METHYLPROPYL)-PROPANOYL]-O-TYROSINE-N-METHYLAMIDESmall molecule
ExperimentalDB08403METHYLAMINO-PHENYLALANYL-LEUCYL-HYDROXAMIC ACIDSmall molecule
ExperimentalDB08482[[1-[N-HYDROXY-ACETAMIDYL]-3-METHYL-BUTYL]-CARBONYL-LEUCINYL]-ALANINE ETHYL ESTERSmall molecule
ExperimentalDB08491N-HYDROXY-2-[4-(4-PHENOXY-BENZENESULFONYL)-TETRAHYDRO-PYRAN-4-YL]-ACETAMIDESmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of MMP1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
CACALCIUM(2+)1su3AD285
CACALCIUM(2+)1su3BD285
0EDN-[(1S)-3-{[(BENZYLOXY)CARBONYL]AMINO}-1-CARBOXYPROPYL]-L-LEUCYL-N-(2-MORPHOLIN-4-YLETHYL)-L-PHENYLALANINAMIDE1cglBG179 H183 R214
0EDN-[(1S)-3-{[(BENZYLOXY)CARBONYL]AMINO}-1-CARBOXYPROPYL]-L-LEUCYL-N-(2-MORPHOLIN-4-YLETHYL)-L-PHENYLALANINAMIDE1cglAG179 H183 Y210 R214 H222
PLH3-BMMHMH1hfcAG179 Y210 H222
ZNZINC(2+)1cgeAH183
ZNZINC(2+)1cgfAH183
ZNZINC(2+)1cgfBH183
ZNZINC(2+)1cglAH183
ZNZINC(2+)1cglBH183
ZNZINC(2+)1hfcAH183
ZNZINC(2+)1su3AH183
ZNZINC(2+)1su3BH183
ZNZINC(2+)2j0tAH183
ZNZINC(2+)2j0tBH183
ZNZINC(2+)2j0tCH183
ZNZINC(2+)3shiAH183
ZNZINC(2+)3shiGH183
ZNZINC(2+)3shiMH183
ZNZINC(2+)966cAH183
ZNZINC(2+)1cgeAH222
ZNZINC(2+)1cgfAH222
ZNZINC(2+)1cgfBH222
ZNZINC(2+)1cglAH222
ZNZINC(2+)1cglBH222
ZNZINC(2+)1hfcAH222
ZNZINC(2+)1su3AH222
ZNZINC(2+)1su3BH222
ZNZINC(2+)2j0tAH222
ZNZINC(2+)2j0tBH222
ZNZINC(2+)2j0tCH222
ZNZINC(2+)3shiAH222
ZNZINC(2+)3shiGH222
ZNZINC(2+)3shiMH222
ZNZINC(2+)966cAH222
RS2N-HYDROXY-2-[4-(4-PHENOXYPHENYL)SULFONYLOXAN-4-YL]ACETAMIDE966cAH222
CACALCIUM(2+)1su3AM160
CACALCIUM(2+)1su3BM160


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Conservation information for LBS of MMP1
Multiple alignments for P03956 in multiple species
LBSAA sequence# speciesSpecies
A157VSEGQADIMIS2Homo sapiens, Bos taurus
A157VFEEEGDIVLS1Mus musculus
A182PGGNLAHAFQP2Homo sapiens, Bos taurus
A182PNYKLAHTFQP1Mus musculus
C92MKQPRCGVPDV2Homo sapiens, Bos taurus
C92MKKPRCGVPDV1Mus musculus
D124ENYTPDLPRAD1Homo sapiens
D124LNYTPYLPKAV1Mus musculus
D124ENYTPDLSRAD1Bos taurus
D158SEGQADIMISF2Homo sapiens, Bos taurus
D158FEEEGDIVLSF1Mus musculus
D170RGDHRDNSPFD2Homo sapiens, Bos taurus
D170RGDHGDNNPFD1Mus musculus
D175DNSPFDGPGGN2Homo sapiens, Bos taurus
D175DNNPFDGPNYK1Mus musculus
D194PGIGGDAHFDE1Homo sapiens
D194PGLGGDVHYDL1Mus musculus
D194AGIGGDAHFDD1Bos taurus
D198GDAHFDEDERW1Homo sapiens
D198GDVHYDLDETW1Mus musculus
D198GDAHFDDDEWW1Bos taurus
D200AHFDEDERWTN1Homo sapiens
D200VHYDLDETWTN1Mus musculus
D200AHFDDDEWWTS1Bos taurus
D285SKLTFDAITTI2Homo sapiens, Bos taurus
D285GDLTFDAITTF1Mus musculus
D378TVKHIDAALSE1Homo sapiens
D378NVTHIDAAVCE1Mus musculus
D378TVKSIDAAVSE1Bos taurus
D427IGHKVDAVFMK1Homo sapiens
D427IDDKVDDVFQK1Mus musculus
D427IGNKVDAVFQK1Bos taurus
E199DAHFDEDERWT1Homo sapiens
E199DVHYDLDETWT1Mus musculus
E199DAHFDDDEWWT1Bos taurus
E201HFDEDERWTNN1Homo sapiens
E201HYDLDETWTNS1Mus musculus
E201HFDDDEWWTSN1Bos taurus
E219RVAAHELGHSL1Homo sapiens
E219YVTAHELGHSL1Mus musculus
E219RVAAHEFGHSL1Bos taurus
E329LPNGLEAAYEF1Homo sapiens
E329LPVKLDAAYEA1Mus musculus
E329LPNGLQAAYEV1Bos taurus
F174RDNSPFDGPGG2Homo sapiens, Bos taurus
F174GDNNPFDGPNY1Mus musculus
G176NSPFDGPGGNL2Homo sapiens, Bos taurus
G176NNPFDGPNYKL1Mus musculus
G178PFDGPGGNLAH2Homo sapiens, Bos taurus
G178PFDGPNYKLAH1Mus musculus
G179FDGPGGNLAHA2Homo sapiens, Bos taurus
G179FDGPNYKLAHT1Mus musculus
G190FQPGPGIGGDA1Homo sapiens
G190FQPGPGLGGDV1Mus musculus
G190FQPGAGIGGDA1Bos taurus
G192PGPGIGGDAHF1Homo sapiens
G192PGPGLGGDVHY1Mus musculus
G192PGAGIGGDAHF1Bos taurus
G193GPGIGGDAHFD1Homo sapiens
G193GPGLGGDVHYD1Mus musculus
G193GAGIGGDAHFD1Bos taurus
H168FVRGDHRDNSP2Homo sapiens, Bos taurus
H168FHRGDHGDNNP1Mus musculus
H183GGNLAHAFQPG2Homo sapiens, Bos taurus
H183NYKLAHTFQPG1Mus musculus
H196IGGDAHFDEDE1Homo sapiens
H196LGGDVHYDLDE1Mus musculus
H196IGGDAHFDDDE1Bos taurus
H218HRVAAHELGHS1Homo sapiens
H218FYVTAHELGHS1Mus musculus
H218YRVAAHEFGHS1Bos taurus
H222AHELGHSLGLS1Homo sapiens
H222AHELGHSLGLT1Mus musculus
H222AHEFGHSLGLA1Bos taurus
H228SLGLSHSTDIG1Homo sapiens
H228SLGLTHSSDIG1Mus musculus
H228SLGLAHSTDIG1Bos taurus
I159EGQADIMISFV2Homo sapiens, Bos taurus
I159EEEGDIVLSFH1Mus musculus
I191QPGPGIGGDAH1Homo sapiens
I191QPGPGLGGDVH1Mus musculus
I191QPGAGIGGDAH1Bos taurus
L181GPGGNLAHAFQ2Homo sapiens, Bos taurus
L181GPNYKLAHTFQ1Mus musculus
L235TDIGALMYPSY2Homo sapiens, Bos taurus
L235SDIGALMFPSY1Mus musculus
M160GQADIMISFVR2Homo sapiens, Bos taurus
M160EEGDIVLSFHR1Mus musculus
N180DGPGGNLAHAF2Homo sapiens, Bos taurus
N180DGPNYKLAHTF1Mus musculus
P177SPFDGPGGNLA2Homo sapiens, Bos taurus
P177NPFDGPNYKLA1Mus musculus
P238GALMYPSYT-F2Homo sapiens, Bos taurus
P238GALMFPSYTWY1Mus musculus
R165MISFVRGDHRD2Homo sapiens, Bos taurus
R165VLSFHRGDHGD1Mus musculus
R202FDEDERWTNNF1Homo sapiens
R202YDLDETWTNSS1Mus musculus
R202FDDDEWWTSNF1Bos taurus
R214EYNLHRVAAHE1Homo sapiens
R214NFNLFYVTAHE1Mus musculus
R214DYNLYRVAAHE1Bos taurus
S172DHRDNSPFDGP2Homo sapiens, Bos taurus
S172DHGDNNPFDGP1Mus musculus
S239ALMYPSYT-FS2Homo sapiens, Bos taurus
S239ALMFPSYTWYT1Mus musculus
T122RIENYTPDLPR1Homo sapiens
T122SILNYTPYLPK1Mus musculus
T122RIENYTPDLSR1Bos taurus
T241MYPSYT-FSGD2Homo sapiens, Bos taurus
T241MFPSYTWYTED1Mus musculus
V164IMISFVRGDHR2Homo sapiens, Bos taurus
V164IVLSFHRGDHG1Mus musculus
V215YNLHRVAAHEL1Homo sapiens
V215FNLFYVTAHEL1Mus musculus
V215YNLYRVAAHEF1Bos taurus
W203DEDERWTNNFR1Homo sapiens
W203DLDETWTNSSE1Mus musculus
W203DDDEWWTSNFQ1Bos taurus
Y210NNFREYNLHRV1Homo sapiens
Y210NSSENFNLFYV1Mus musculus
Y210SNFQDYNLYRV1Bos taurus
Y237IGALMYPSYT-2Homo sapiens, Bos taurus
Y237IGALMFPSYTW1Mus musculus
Y240LMYPSYT-FSG2Homo sapiens, Bos taurus
Y240LMFPSYTWYTE1Mus musculus


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