mutLBSgeneDB

mutLBSgeneDB
mutated Ligand Binding Site gene DataBase

Home

Download

 Statistics

Help

About Us
Bioinformatics and Systems Medicine Laboratory Bioinformatics and Systems Medicine Laboratory

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 CA1
Gene summary
Basic gene Info.Gene symbolCA1
Gene namecarbonic anhydrase I
SynonymsCA-I|CAB|Car1|HEL-S-11
CytomapUCSC genome browser: 8q21.2
Type of geneprotein-coding
RefGenesNM_001128829.3,
NM_001128830.3,NM_001128831.3,NM_001164830.1,NM_001291967.1,
NM_001291968.1,NM_001738.4,
Descriptioncarbonate dehydratase Icarbonic anhydrase 1carbonic anhydrase Bepididymis secretory protein Li 11
Modification date20141207
dbXrefs MIM : 114800
HGNC : HGNC
Ensembl : ENSG00000133742
HPRD : 00265
Vega : OTTHUMG00000164941
ProteinUniProt: P00915
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_CA1
BioGPS: 759
PathwayNCI Pathway Interaction Database: CA1
KEGG: CA1
REACTOME: CA1
Pathway Commons: CA1
ContextiHOP: CA1
ligand binding site mutation search in PubMed: CA1
UCL Cancer Institute: CA1
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


Top
Ligand binding site mutations for CA1

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
D191D191HLUAD1
N70E72KLUAD1
F92R90SLUAD1
F92R90GOV1
Y8G7ESKCM1
Y8G7RSKCM1
P202P202RSKCM1
H120H120NUCEC1
N70F71VUCEC1
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.


Top
Protein structure related information for CA1
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
N70E72K-1.8163896
F92R90G-1.2938559
F92R90S-1.2321899
Y8G7E-1.183909
Y8G7R-1.133737
D191D191H-1.0804544
P202P202R-0.60912639
N70F71V-0.56187781
H120H120N-0.4160738
(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 CA1 from PDB

Top
Differential gene expression and gene-gene network for CA1
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 CA1 and the right PPI network was created from samples without mutations in the LBS of CA1. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Top

Top
Phenotype information for CA1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0038356Stomach Neoplasms2Biomarker
umls:C0001418Adenocarcinoma1Biomarker
umls:C0279626Esophageal Squamous Cell Carcinoma1Biomarker

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

Top
Pharmacological information for CA1
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
ApprovedDB00232MethyclothiazideSmall molecule
WithdrawnDB00311EthoxzolamideSmall molecule
ApprovedDB00381AmlodipineSmall molecule
Approved|vet_approvedDB00423MethocarbamolSmall molecule
ApprovedDB00436BendroflumethiazideSmall molecule
ApprovedDB00562BenzthiazideSmall molecule
ApprovedDB00606CyclothiazideSmall molecule
ApprovedDB00703MethazolamideSmall molecule
ApprovedDB00774HydroflumethiazideSmall molecule
Approved|vet_approvedDB00819AcetazolamideSmall molecule
ApprovedDB00869DorzolamideSmall molecule
Approved|vet_approvedDB00880ChlorothiazideSmall molecule
Approved|investigationalDB00909ZonisamideSmall molecule
Approved|vet_approvedDB00999HydrochlorothiazideSmall molecule
Approved|vet_approvedDB01021TrichlormethiazideSmall molecule
Approved|illicit|withdrawnDB01031EthinamateSmall molecule
ApprovedDB01119DiazoxideSmall molecule
ApprovedDB01144DiclofenamideSmall molecule
ApprovedDB01194BrinzolamideSmall molecule
ApprovedDB01325QuinethazoneSmall molecule
ExperimentalDB08155N-{2-[4-(AMINOSULFONYL)PHENYL]ETHYL}ACETAMIDESmall molecule
ExperimentalDB081563-[4-(AMINOSULFONYL)PHENYL]PROPANOIC ACIDSmall molecule
ExperimentalDB08157ETHYL 3-[4-(AMINOSULFONYL)PHENYL]PROPANOATESmall molecule
InvestigationalDB08846Ellagic AcidSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of CA1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
B30{2,2'-[(2-{[4-(AMINOSULFONYL)BENZOYL]AMINO}ETHYL)IMINO]DIACETATO(2-)-KAPPAO}COPPER2foyAP202
B30{2,2'-[(2-{[4-(AMINOSULFONYL)BENZOYL]AMINO}ETHYL)IMINO]DIACETATO(2-)-KAPPAO}COPPER2foyBP202
FLB1-(2-ETHOXYETHOXY)-3,5-BIS(TRIFLUOROMETHYL)BENZENE3w6hAP202
3TV2,3,5,6-TETRAFLUORO-4-(PROPYLSULFANYL) BENZENESULFONAMIDE4wr7BP202


Top
Conservation information for LBS of CA1
Multiple alignments for P00915 in multiple species
LBSAA sequence# speciesSpecies
A122GELHLVHWNSA2Mus musculus, Rattus norvegicus
A122AELHVAHWNSA1Homo sapiens
A122AELHLVHWNSA1Bos taurus
A122AELHIAHWNSA1Pan troglodytes
A133KYSSLAEAASK1Homo sapiens
A133KYPSFADAASQ1Bos taurus
A133KYSNLAEAASK1Pan troglodytes
A133KYSSASEAISK1Mus musculus
A133KYSSAAEAISK1Rattus norvegicus
A136SLAEAASKADG1Homo sapiens
A136SFADAASQADG1Bos taurus
A136NLAEAASKADG1Pan troglodytes
A136SASEAISKADG1Mus musculus
A136SAAEAISKADG1Rattus norvegicus
C213VTWIICKESIS2Homo sapiens, Pan troglodytes
C213VTWIIFKETIS1Bos taurus
C213VTWVICKDSIS1Mus musculus
C213VTWVICKESIS1Rattus norvegicus
D10DWGYDDKNGPE2Homo sapiens, Pan troglodytes
D10DWGYDGENGPE1Bos taurus
D10DWGYGSENGPD1Mus musculus
D10DWGYDSKNGPD1Rattus norvegicus
D191LPSSLDFWTYP2Homo sapiens, Pan troglodytes
D191LPSSLDYWTYF2Mus musculus, Rattus norvegicus
D191LPPSLDYWAYS1Bos taurus
D9PDWGYDDKNGP2Homo sapiens, Pan troglodytes
D9PDWGYDGENGP1Bos taurus
D9ADWGYGSENGP1Mus musculus
D9ADWGYDSKNGP1Rattus norvegicus
E103WGSTNEHGSEH2Homo sapiens, Pan troglodytes
E103WGNSNDHGSEH2Mus musculus, Rattus norvegicus
E103WGITDDCGSEH1Bos taurus
E215WIICKESISVS2Homo sapiens, Pan troglodytes
E215WIIFKETISVS1Bos taurus
E215WVICKDSISLS1Mus musculus
E215WVICKESISLS1Rattus norvegicus
F192PSSLDFWTYPG2Homo sapiens, Pan troglodytes
F192PSSLDYWTYFG2Mus musculus, Rattus norvegicus
F192PPSLDYWAYSG1Bos taurus
F92DSYRLFQFHFH2Homo sapiens, Pan troglodytes
F92DSYRLTQFHFH2Mus musculus, Rattus norvegicus
F92ESYRLRQFHFH1Bos taurus
G64EIVNVGHSFHV3Bos taurus, Mus musculus, Rattus norvegicus
G64EIINVGHSFHV2Homo sapiens, Pan troglodytes
G99FHFHWGSTNEH2Homo sapiens, Pan troglodytes
G99FHFHWGNSNDH2Mus musculus, Rattus norvegicus
G99FHFHWGITDDC1Bos taurus
H104GSTNEHGSEHT2Homo sapiens, Pan troglodytes
H104GNSNDHGSEHT2Mus musculus, Rattus norvegicus
H104GITDDCGSEHL1Bos taurus
H120YSGELHLVHWN2Mus musculus, Rattus norvegicus
H120YSAELHVAHWN1Homo sapiens
H120FSAELHLVHWN1Bos taurus
H120YSAELHIAHWN1Pan troglodytes
H201PGSLTHPPLYE2Homo sapiens, Pan troglodytes
H201FGSLTHPPLHE2Mus musculus, Rattus norvegicus
H201SGSLTHPPLHE1Bos taurus
H244AVPMQHNNRPT2Homo sapiens, Pan troglodytes
H244AVPVLSNHRPP2Mus musculus, Rattus norvegicus
H244EVHIKQNNRPP1Bos taurus
H65IINVGHSFHVN2Homo sapiens, Pan troglodytes
H65IVNVGHSFHVN1Bos taurus
H65IVNVGHSFHVI1Mus musculus
H65IVNVGHSFHVV1Rattus norvegicus
H68VGHSFHVNFED3Homo sapiens, Bos taurus, Pan troglodytes
H68VGHSFHVIFDD1Mus musculus
H68VGHSFHVVFDD1Rattus norvegicus
H95RLFQFHFHWGS2Homo sapiens, Pan troglodytes
H95RLTQFHFHWGN2Mus musculus, Rattus norvegicus
H95RLRQFHFHWGI1Bos taurus
H97FQFHFHWGSTN2Homo sapiens, Pan troglodytes
H97TQFHFHWGNSN2Mus musculus, Rattus norvegicus
H97RQFHFHWGITD1Bos taurus
K114TVDGVKYSAEL2Homo sapiens, Pan troglodytes
K114LVDGAKFSAEL1Bos taurus
K114TVDGTRYSGEL1Mus musculus
K114TVDGAKYSGEL1Rattus norvegicus
K214TWIICKESISV2Homo sapiens, Pan troglodytes
K214TWIIFKETISV1Bos taurus
K214TWVICKDSISL1Mus musculus
K214TWVICKESISL1Rattus norvegicus
L132AKYSSLAEAAS1Homo sapiens
L132AKYPSFADAAS1Bos taurus
L132AKYSNLAEAAS1Pan troglodytes
L132AKYSSASEAIS1Mus musculus
L132AKYSSAAEAIS1Rattus norvegicus
L142SKADGLAVIGV2Homo sapiens, Pan troglodytes
L142SQADGLALIGV1Bos taurus
L142SKADGLAILGV1Mus musculus
L142SKADGLAIIGV1Rattus norvegicus
L190LLPSSLDFWTY2Homo sapiens, Pan troglodytes
L190LLPSSLDYWTY2Mus musculus, Rattus norvegicus
L190LLPPSLDYWAY1Bos taurus
L199TYPGSLTHPPL2Homo sapiens, Pan troglodytes
L199TYFGSLTHPPL2Mus musculus, Rattus norvegicus
L199AYSGSLTHPPL1Bos taurus
M242DNAVPMQHNNR2Homo sapiens, Pan troglodytes
M242EPAVPVLSNHR2Mus musculus, Rattus norvegicus
M242DREVHIKQNNR1Bos taurus
N246PMQHNNRPTQP2Homo sapiens, Pan troglodytes
N246PVLSNHRPPQP2Mus musculus, Rattus norvegicus
N246HIKQNNRPPQP1Bos taurus
N70HSFHVNFEDND2Homo sapiens, Pan troglodytes
N70HSFHVNFEDSD1Bos taurus
N70HSFHVIFDDSS1Mus musculus
N70HSFHVVFDDSS1Rattus norvegicus
P187PSTLLPSSLDF2Homo sapiens, Pan troglodytes
P187PSSLLPSSLDY2Mus musculus, Rattus norvegicus
P187PSVLLPPSLDY1Bos taurus
P202GSLTHPPLHES3Bos taurus, Mus musculus, Rattus norvegicus
P202GSLTHPPLYES2Homo sapiens, Pan troglodytes
P203SLTHPPLHESV3Bos taurus, Mus musculus, Rattus norvegicus
P203SLTHPPLYESV2Homo sapiens, Pan troglodytes
P241GDNAVPMQHNN2Homo sapiens, Pan troglodytes
P241GEPAVPVLSNH2Mus musculus, Rattus norvegicus
P241GDREVHIKQNN1Bos taurus
Q243NAVPMQHNNRP2Homo sapiens, Pan troglodytes
Q243PAVPVLSNHRP2Mus musculus, Rattus norvegicus
Q243REVHIKQNNRP1Bos taurus
Q93SYRLFQFHFHW2Homo sapiens, Pan troglodytes
Q93SYRLTQFHFHW2Mus musculus, Rattus norvegicus
Q93SYRLRQFHFHW1Bos taurus
S100HFHWGSTNEHG2Homo sapiens, Pan troglodytes
S100HFHWGNSNDHG2Mus musculus, Rattus norvegicus
S100HFHWGITDDCG1Bos taurus
S189TLLPSSLDFWT2Homo sapiens, Pan troglodytes
S189SLLPSSLDYWT2Mus musculus, Rattus norvegicus
S189VLLPPSLDYWA1Bos taurus
S232FRSLLSNVEGD2Homo sapiens, Pan troglodytes
S232LRGLLSSAEGE2Mus musculus, Rattus norvegicus
S232FRSLLANAEGD1Bos taurus
S66INVGHSFHVNF2Homo sapiens, Pan troglodytes
S66VNVGHSFHVNF1Bos taurus
S66VNVGHSFHVIF1Mus musculus
S66VNVGHSFHVVF1Rattus norvegicus
T200YPGSLTHPPLY2Homo sapiens, Pan troglodytes
T200YFGSLTHPPLH2Mus musculus, Rattus norvegicus
T200YSGSLTHPPLH1Bos taurus
V144ADGLAVIGVLM2Homo sapiens, Pan troglodytes
V144ADGLALIGVLV1Bos taurus
V144ADGLAILGVLM1Mus musculus
V144ADGLAIIGVLM1Rattus norvegicus
V63KEIVNVGHSFH3Bos taurus, Mus musculus, Rattus norvegicus
V63KEIINVGHSFH2Homo sapiens, Pan troglodytes
W210YESVTWIICKE2Homo sapiens, Pan troglodytes
W210HESVTWIIFKE1Bos taurus
W210HESVTWVICKD1Mus musculus
W210HESVTWVICKE1Rattus norvegicus
Y8SPDWGYDDKNG2Homo sapiens, Pan troglodytes
Y8SPDWGYDGENG1Bos taurus
Y8SADWGYGSENG1Mus musculus
Y8SADWGYDSKNG1Rattus norvegicus


Copyright © 2016-Present - The University of Texas Health Science Center at Houston
Site Policies | State of Texas