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 MAD2L1
Gene summary
Basic gene Info.Gene symbolMAD2L1
Gene nameMAD2 mitotic arrest deficient-like 1 (yeast)
CytomapUCSC genome browser: 4q27
Type of geneprotein-coding
DescriptionMAD2 (mitotic arrest deficient, yeast, homolog)-like 1MAD2-like protein 1mitotic arrest deficient 2-like protein 1mitotic arrest deficient, yeast, homolog-like 1mitotic spindle assembly checkpoint protein MAD2A
Modification date20141207
dbXrefs MIM : 601467
HPRD : 03274
ProteinUniProt: Q13257
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_MAD2L1
BioGPS: 4085
PathwayNCI Pathway Interaction Database: MAD2L1
Pathway Commons: MAD2L1
ContextiHOP: MAD2L1
ligand binding site mutation search in PubMed: MAD2L1
UCL Cancer Institute: MAD2L1
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO:0007093mitotic cell cycle checkpoint8824189
GO:0042177negative regulation of protein catabolic process11459825
GO:0060564negative regulation of mitotic anaphase-promoting complex activity11459825

Ligand binding site mutations for MAD2L1

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 MAD2L1
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 MAD2L1 from PDB

Differential gene expression and gene-gene network for MAD2L1
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 MAD2L1 and the right PPI network was created from samples without mutations in the LBS of MAD2L1. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Phenotype information for MAD2L1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0279626Esophageal Squamous Cell Carcinoma1Biomarker
umls:C0017661Glomerulonephritis, IGA1Biomarker
umls:C0032460Polycystic Ovary Syndrome1Biomarker

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

Pharmacological information for MAD2L1
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.
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of MAD2L1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS

Conservation information for LBS of MAD2L1
Multiple alignments for Q13257 in multiple species
LBSAA sequence# speciesSpecies
C149EVS--CSFDLL2Homo sapiens, Mus musculus
C149TKEGGYTFTVL1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
C149EEQ--CTFNVL1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
C149DET--CVFDVL1Arabidopsis thaliana
D152--CSFDLLIYT2Homo sapiens, Mus musculus
D152GGYTFTVLAYT1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
D152--CTFNVLVYA1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
D152--CVFDVLAYT1Arabidopsis thaliana
D158LLIYTDKDLVV2Homo sapiens, Mus musculus
D158VLAYTDADAKV1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
D158VLVYADKDSEV1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
D158VLAYTDTDVAV1Arabidopsis thaliana
D160IYTDKDLVVPE2Homo sapiens, Mus musculus
D160AYTDADAKVPL1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
D160VYADKDSEVPT1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
D160AYTDTDVAVPF1Arabidopsis thaliana
D58LLVTTDLELIK1Homo sapiens
D58LLKTHDDELKD1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
D58MLVSVDEEVKT1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
D58MLLIEDESVKS1Arabidopsis thaliana
D58LLTTTDPELIK1Mus musculus
E168VPEKWEESGPQ2Homo sapiens, Mus musculus
E168VPLEWADSNSK1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
E168VPTDWVDSDPR1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
E168VPFTWIESDPK1Arabidopsis thaliana
E169PEKWEESGPQF2Homo sapiens, Mus musculus
E169PLEWADSNSKE1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
E169PTDWVDSDPRI1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
E169PFTWIESDPKL1Arabidopsis thaliana
E60VTTDLELIKYL1Homo sapiens
E60KTHDDELKDYI1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
E60VSVDEEVKTYI1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
E60LIEDESVKSFM1Arabidopsis thaliana
E60TTTDPELIKYL1Mus musculus
F151S--CSFDLLIY2Homo sapiens, Mus musculus
F151EGGYTFTVLAY1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
F151Q--CTFNVLVY1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
F151T--CVFDVLAY1Arabidopsis thaliana
F174ESGPQFITNSE1Homo sapiens
F174DSNSKEIPDGE1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
F174DSDPRILRDAE1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
F174ESDPKLIANPQ1Arabidopsis thaliana
F174ESGPQFITNCE1Mus musculus
G171KWEESGPQFIT2Homo sapiens, Mus musculus
G171EWADSNSKEIP1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G171DWVDSDPRILR1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G171TWIESDPKLIA1Arabidopsis thaliana
I155SFDLLIYTDKD2Homo sapiens, Mus musculus
I155TFTVLAYTDAD1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
I155TFNVLVYADKD1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
I155VFDVLAYTDTD1Arabidopsis thaliana
I37LYQRGIYPSET2Homo sapiens, Mus musculus
I37LYQRGVYPAED1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
I37LFQRGIYPAED1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
I37LYNRAVYPEES1Arabidopsis thaliana
K159LIYTDKDLVVP2Homo sapiens, Mus musculus
K159LAYTDADAKVP1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
K159LVYADKDSEVP1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
K159LAYTDTDVAVP1Arabidopsis thaliana
K166LVVPEKWEESG2Homo sapiens, Mus musculus
K166AKVPLEWADSN1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
K166SEVPTDWVDSD1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
K166VAVPFTWIESD1Arabidopsis thaliana
K83KCSVQKLVVVI2Homo sapiens, Mus musculus
K83GGKCNQLVLCI1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
K83AKKIQKLILVI1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
K83AGKLQRVVLVI1Arabidopsis thaliana
L153-CSFDLLIYTD2Homo sapiens, Mus musculus
L153GYTFTVLAYTD1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
L153-CTFNVLVYAD1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
L153-CVFDVLAYTD1Arabidopsis thaliana
L154CSFDLLIYTDK2Homo sapiens, Mus musculus
L154YTFTVLAYTDA1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
L154CTFNVLVYADK1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
L154CVFDVLAYTDT1Arabidopsis thaliana
L161YTDKDLVVPEK2Homo sapiens, Mus musculus
L161YTDADAKVPLE1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
L161YADKDSEVPTD1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
L161YTDTDVAVPFT1Arabidopsis thaliana
N67IKYLNNVVEQL2Homo sapiens, Mus musculus
N67KDYIRKILLQV1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
N67KTYIRKIVSQL1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
N67KSFMSNLTSQI1Arabidopsis thaliana
P172WEESGPQFITN2Homo sapiens, Mus musculus
P172WADSNSKEIPD1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
P172WVDSDPRILRD1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
P172WIESDPKLIAN1Arabidopsis thaliana
Q173EESGPQFITNS1Homo sapiens
Q173ADSNSKEIPDG1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
Q173VDSDPRILRDA1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Q173IESDPKLIANP1Arabidopsis thaliana
Q173EESGPQFITNC1Mus musculus
R99GEVLERWQFDI2Homo sapiens, Mus musculus
R99GEVVERWSFNV1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
R99GEDLERWQFNV1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R99GEVLERWNFRI1Arabidopsis thaliana
S170EKWEESGPQFI2Homo sapiens, Mus musculus
S170LEWADSNSKEI1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
S170TDWVDSDPRIL1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
S170FTWIESDPKLI1Arabidopsis thaliana
T157DLLIYTDKDLV2Homo sapiens, Mus musculus
T157TVLAYTDADAK1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
T157NVLVYADKDSE1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
T157DVLAYTDTDVA1Arabidopsis thaliana
V162TDKDLVVPEKW2Homo sapiens, Mus musculus
V162TDADAKVPLEW1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
V162ADKDSEVPTDW1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
V162TDTDVAVPFTW1Arabidopsis thaliana
V163DKDLVVPEKWE2Homo sapiens, Mus musculus
V163DADAKVPLEWA1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
V163DKDSEVPTDWV1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
V163DTDVAVPFTWI1Arabidopsis thaliana
V68KYLNNVVEQLK2Homo sapiens, Mus musculus
V68DYIRKILLQVH1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
V68TYIRKIVSQLH1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
V68SFMSNLTSQIS1Arabidopsis thaliana
V85SVQKLVVVISN2Homo sapiens, Mus musculus
V85KCNQLVLCIVD1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
V85KIQKLILVITS1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
V85KLQRVVLVIMS1Arabidopsis thaliana
W167VVPEKWEESGP2Homo sapiens, Mus musculus
W167KVPLEWADSNS1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
W167EVPTDWVDSDP1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
W167AVPFTWIESDP1Arabidopsis thaliana
W75EQLKDWLYKCS1Homo sapiens
W75LQVHRWLLGGK1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
W75SQLHKWMFAKK1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
W75SQISEWLEAGK1Arabidopsis thaliana
W75EQLKEWLYKCS1Mus musculus
Y156FDLLIYTDKDL2Homo sapiens, Mus musculus
Y156FTVLAYTDADA1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
Y156FNVLVYADKDS1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Y156FDVLAYTDTDV1Arabidopsis thaliana
Y38YQRGIYPSETF2Homo sapiens, Mus musculus
Y38YQRGVYPAEDF1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
Y38FQRGIYPAEDF1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Y38YNRAVYPEESF1Arabidopsis thaliana
Y64LELIKYLNNVV1Homo sapiens
Y64DELKDYIRKIL1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
Y64EEVKTYIRKIV1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Y64ESVKSFMSNLT1Arabidopsis thaliana
Y64PELIKYLNNVV1Mus musculus

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