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 MMACHC
Gene summary
Basic gene Info.Gene symbolMMACHC
Gene namemethylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
CytomapUCSC genome browser: 1p34.1
Type of geneprotein-coding
Descriptionmethylmalonic aciduria and homocystinuria type C protein
Modification date20141219
dbXrefs MIM : 609831
HPRD : 18585
ProteinUniProt: Q9Y4U1
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_MMACHC
BioGPS: 25974
PathwayNCI Pathway Interaction Database: MMACHC
Pathway Commons: MMACHC
ligand binding site mutation search in PubMed: MMACHC
UCL Cancer Institute: MMACHC
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez

Ligand binding site mutations for MMACHC

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
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.

Protein structure related information for MMACHC
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
(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 MMACHC from PDB

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


Phenotype information for MMACHC
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C1848561Methylmalonic acidemia with homocystinuria2Biomarker, GeneticVariation

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

Pharmacological information for MMACHC
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|nutraceuticalDB00115CyanocobalaminSmall molecule
ApprovedDB00200HydroxocobalaminSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of MMACHC go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
B12COBALAMIN3somAP113 F196
B12COBALAMIN3somBP113 F196
B12COBALAMIN3somCP113 F196
B12COBALAMIN3somDP113 F196
B12COBALAMIN3somEP113 F196
B12COBALAMIN3somFP113 F196
B12COBALAMIN3somGP113 F196
B12COBALAMIN3somHP113 F196
B12COBALAMIN3somIP113 F196
B12COBALAMIN3somJP113 F196
B12COBALAMIN3somKP113 F196
B12COBALAMIN3somLP113 F196
B12COBALAMIN3somMP113 F196
B12COBALAMIN3somNP113 F196
B12COBALAMIN3somOP113 F196
B12COBALAMIN3somPP113 F196

Conservation information for LBS of MMACHC
Multiple alignments for Q9Y4U1 in multiple species
LBSAA sequence# speciesSpecies
A117RPKILAQTAAH2Homo sapiens, Mus musculus
A117RPKILMQTCGH1Caenorhabditis elegans
A117RPKFLAQTAAH1Gallus gallus
A159FGGWFAIRGVV1Homo sapiens
A159YGGHFAFRSVL1Caenorhabditis elegans
A159YGGWFAIRGLL1Gallus gallus
A159FGGWFAIRGVM1Mus musculus
C149RISGVCIHPRF1Homo sapiens
C149KFIGLSLHPIY1Caenorhabditis elegans
C149KIFGVCIHPKY1Gallus gallus
C149HIAGVCIHPRF1Mus musculus
C182RKPHDCVPTRA1Homo sapiens
C182KEPRPILTASE1Caenorhabditis elegans
C182SAPVDCVSTEE1Gallus gallus
C182RKPPDCVPTRA1Mus musculus
D104IEIIADYEVHP1Homo sapiens
D104FEILHDYSMTP1Caenorhabditis elegans
D104VDVIFDYEILP1Gallus gallus
D104MEVIADYEVHP1Mus musculus
F196ALLEGFNFHWR1Homo sapiens
F196TALEKFNYNWK1Caenorhabditis elegans
F196ELLELFNFHWQ1Gallus gallus
F196TLLEGFNFHWR1Mus musculus
H122AQTAAHVAGAA3Homo sapiens, Gallus gallus, Mus musculus
H122MQTCGHVAGAA1Caenorhabditis elegans
H180PPRKPHDCVPT1Homo sapiens
H180CEKEPRPILTA1Caenorhabditis elegans
H180EQSAPVDCVST1Gallus gallus
H180PPRKPPDCVPT1Mus musculus
I115NRRPKILAQTA2Homo sapiens, Mus musculus
I115QRRPKILMQTC1Caenorhabditis elegans
I115SRRPKFLAQTA1Gallus gallus
I160GGWFAIRGVVL1Homo sapiens
I160GGHFAFRSVLI1Caenorhabditis elegans
I160GGWFAIRGLLL1Gallus gallus
I160GGWFAIRGVML1Mus musculus
L116RRPKILAQTAA2Homo sapiens, Mus musculus
L116RRPKILMQTCG1Caenorhabditis elegans
L116RRPKFLAQTAA1Gallus gallus
L34AWYNELL--PP2Homo sapiens, Mus musculus
L34GSYNEAVGESS1Caenorhabditis elegans
L34GWYNAVL--QP1Gallus gallus
L35WYNELL--PPA2Homo sapiens, Mus musculus
L35SYNEAVGESSP1Caenorhabditis elegans
L35WYNAVL--QPA1Gallus gallus
P113HPNRRPKILAQ2Homo sapiens, Mus musculus
P113TPQRRPKILMQ1Caenorhabditis elegans
P113LPSRRPKFLAQ1Gallus gallus
P152GVCIHPRFGGW2Homo sapiens, Mus musculus
P152GLSLHPIYGGH1Caenorhabditis elegans
P152GVCIHPKYGGW1Gallus gallus
P36ELL--PPAFHL2Homo sapiens, Mus musculus
P36EAVGESSPFAL1Caenorhabditis elegans
P36AVL--QPAFHL1Gallus gallus
Q118PKILAQTAAHV2Homo sapiens, Mus musculus
Q118PKILMQTCGHV1Caenorhabditis elegans
Q118PKFLAQTAAHV1Gallus gallus
Q131AAYYYQRQDVE1Homo sapiens
Q131AAFYYQPCHFQ1Caenorhabditis elegans
Q131AAYYYQRKDVK1Gallus gallus
Q131AAYYYQRQDVD1Mus musculus
Q133YYYQRQDVEAD1Homo sapiens
Q133FYYQPCHFQED1Caenorhabditis elegans
Q133YYYQRKDVKLD1Gallus gallus
Q133YYYQRQDVDAD1Mus musculus
R144--GNQRISGVC1Homo sapiens
R144MGPNLKFIGLS1Caenorhabditis elegans
R144--GEKKIFGVC1Gallus gallus
R144--GTQHIAGVC1Mus musculus
S146GNQRISGVCIH1Homo sapiens
S146PNLKFIGLSLH1Caenorhabditis elegans
S146GEKKIFGVCIH1Gallus gallus
S146GTQHIAGVCIH1Mus musculus
T119KILAQTAAHVA2Homo sapiens, Mus musculus
T119KILMQTCGHVA1Caenorhabditis elegans
T119KFLAQTAAHVA1Gallus gallus
V148QRISGVCIHPR1Homo sapiens
V148LKFIGLSLHPI1Caenorhabditis elegans
V148KKIFGVCIHPK1Gallus gallus
V148QHIAGVCIHPR1Mus musculus
V209TYRDAVTPQER1Homo sapiens
V209GFRDFGNPTRR1Caenorhabditis elegans
V209RYRDIIEVKER1Gallus gallus
V209TYRDAVTPEER1Mus musculus
W200GFNFHWRDWTY2Homo sapiens, Mus musculus
W200KFNYNWKDSGF1Caenorhabditis elegans
W200LFNFHWQDGRY1Gallus gallus
Y129AGAAYYYQRQD2Homo sapiens, Mus musculus
Y129AGAAFYYQPCH1Caenorhabditis elegans
Y129AGAAYYYQRKD1Gallus gallus
Y205WRDWTYRDAVT2Homo sapiens, Mus musculus
Y205WKDSGFRDFGN1Caenorhabditis elegans
Y205WQDGRYRDIIE1Gallus gallus

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