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 HIF1AN
Gene summary
Basic gene Info.Gene symbolHIF1AN
Gene namehypoxia inducible factor 1, alpha subunit inhibitor
SynonymsFIH1
CytomapUCSC genome browser: 10q24
Type of geneprotein-coding
RefGenesNM_017902.2,
DescriptionFIH-1factor inhibiting HIF-1factor inhibiting HIF1hypoxia-inducible factor 1-alpha inhibitorhypoxia-inducible factor asparagine hydroxylasepeptide-aspartate beta-dioxygenase
Modification date20141207
dbXrefs MIM : 606615
HGNC : HGNC
HPRD : 09426
ProteinUniProt: Q9NWT6
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_HIF1AN
BioGPS: 55662
PathwayNCI Pathway Interaction Database: HIF1AN
KEGG: HIF1AN
REACTOME: HIF1AN
Pathway Commons: HIF1AN
ContextiHOP: HIF1AN
ligand binding site mutation search in PubMed: HIF1AN
UCL Cancer Institute: HIF1AN
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO TermPubMed ID
GO:0036138peptidyl-histidine hydroxylation21251231
GO:0042264peptidyl-aspartic acid hydroxylation21177872
GO:0042265peptidyl-asparagine hydroxylation12080085
GO:0045663positive regulation of myoblast differentiation18299578
GO:0045746negative regulation of Notch signaling pathway18299578
GO:0055114oxidation-reduction process12080085
GO:0061428negative regulation of transcription from RNA polymerase II promoter in response to hypoxia11641274


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Ligand binding site mutations for HIF1AN

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
F162F162LCOAD1
F162F162VCOAD1
Y93S94NCOAD1
Y308P309HCOAD1
Q147,Y145L146MLUAD1
F207Q209ELUAD1
P221P221LSTAD1
I306I306VUCEC1
K304,I306R305IUCEC1
Y102F100LUCEC1
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 HIF1AN
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
F162F162V-1.3351397
F162F162L-1.1107093
Q147L146M-1.1085993
Y145L146M-1.1085993
Y308P309H-1.0162007
I306I306V-0.76612752
I306R305I-0.75359691
K304R305I-0.75359691
Y102F100L-0.71638241
P221P221L-0.59322572
Y93S94N-0.58681709
F207Q209E-0.56273143
(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 HIF1AN from PDB

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Differential gene expression and gene-gene network for HIF1AN
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 HIF1AN and the right PPI network was created from samples without mutations in the LBS of HIF1AN. 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 HIF1AN
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type

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

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Pharmacological information for HIF1AN
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
ExperimentalDB01694D-tartaric acidSmall molecule
ExperimentalDB08263N-(carboxycarbonyl)-D-phenylalanineSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of HIF1AN go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
IIIPeptide ligand (LEU,LEU,GLN,GLY,GLU,GLU,LEU,LEU,ARG,ALA,LEU,ASP)1h2kAF162
IIIPeptide ligand (LEU,GLN,GLY,GLU,GLU,LEU,LEU,ARG,ALA,LEU)1h2lAF162
IIIPeptide ligand (LEU,GLN,GLY,GLU,GLU,LEU,LEU,ARG,ALA,LEU)1h2mAF162
NDFN-OXALYL-D-PHENYLALANINE1yciAP221
HQYQUINOLIN-8-OL3kcyAQ147 F207
IIIPeptide ligand (LEU,THR,SER,TYR,ASP,CYS,GLU,VAL,ASN,ALA,PRO,ILE)1h2kAY102
IIIPeptide ligand (LEU,THR,SER,TYR,ASP,CYS,GLU,VAL,ASN,ALA,PRO,ILE)1h2lAY102
IIIPeptide ligand (LEU,THR,SER,TYR,ASP,CYS,GLU,VAL,ASN,ALA,PRO,ILE)1h2mAY102
IIIPeptide ligand (SER,VAL,VAL,GLU,TYR,LEU,LEU,GLN,HIS,GLY,ALA,ASP,VAL,HIS)2y0iAY102
IIIPeptide ligand (GLN,LEU,THR,SER,TYR,ASP,CYS,GLU,VAL,ASN,ALA,PRO,ILE)3d8cAY102
IIIPeptide ligand (LEU,GLU,ASP,LEU,ILE,ASN,SER,HIS,ALA,ASP,VAL,ASN,ALA)3p3pAY102
IIIPeptide ligand (ARG,LEU,LEU,GLU,ALA,SER,ALA,ASP,ALA,ASN)3p3nAY102 I306
IIIPeptide ligand (GLU,VAL,VAL,LYS,LEU,LEU,LEU,GLU,HIS,GLY,ALA,ASP,VAL,ASP,ALA,GLN,ASP,LYS)2xumAY102 K304 I306 Y308
8XQ8-HYDROXYQUINOLINE-5-CARBOXYLIC ACID4bioAY102 Y145 F207
OGAN-OXALYLGLYCINE1h2kAY145 F207
AKG2-OXOGLUTARIC ACID1h2lAY145 F207
OGAN-OXALYLGLYCINE1h2mAY145 F207
AKG2-OXOGLUTARIC ACID1h2nAY145 F207
AKG2-OXOGLUTARIC ACID1mzfAY145 F207
FUMFUMARIC ACID2cgoAY145 F207
AKG2-OXOGLUTARIC ACID2ilmAY145 F207
PD2LUTIDINIC ACID2w0xAY145 F207
A292-(3-HYDROXYPHENYL)-2-OXO-ETHANOIC ACID2wa3AY145 F207
069N,3-DIHYDROXYBENZAMIDE2wa4AY145 F207
OGAN-OXALYLGLYCINE2xumAY145 F207
AKG2-OXOGLUTARIC ACID2y0iAY145 F207
2HG(R)-2-HYDROXYGLUTARIC ACID2yc0AY145 F207
S2G(S)-2-HYDROXYGLUTARIC ACID2ydeAY145 F207
AKG2-OXOGLUTARIC ACID3d8cAY145 F207
CQLDIPROFORM3kcxAY145 F207
8XQ8-HYDROXYQUINOLINE-5-CARBOXYLIC ACID3od4AY145 F207
AKG2-OXOGLUTARIC ACID3p3nAY145 F207
AKG2-OXOGLUTARIC ACID3p3pAY145 F207
DZADAMINOZIDE4ai8AY145 F207
AKG2-OXOGLUTARIC ACID4z2wAY145 F207
NDFN-OXALYL-D-PHENYLALANINE1yciAY145 Q147 F207
IIIPeptide ligand (VAL,VAL,LYS,LEU,LEU,LEU,GLU,HIS,GLY,ALA,ASP,VAL,SER,ALA,GLN)4b7kAY93 Y102 I306
IIIPeptide ligand (GLU,VAL,VAL,LYS,LEU,LEU,LEU,GLU,HIS,GLY,ALA,ASP,VAL,DYL,ALA)4nr1AY93 Y102 I306 Y308
IIIPeptide ligand (GLU,VAL,VAL,LYS,LEU,LEU,LEU,GLU,HIS,GLY,ALA,ASP,VAL,LEU,ALA,GLN,ASP)4b7eAY93 Y102 K304 I306
IIIPeptide ligand (VAL,VAL,LYS,LEU,LEU,LEU,GLU,HIS,GLY,ALA,ASP,VAL,DLE,ALA,GLN,ASP)4jaaAY93 Y102 Q147 I306 Y308


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Conservation information for LBS of HIF1AN
Multiple alignments for Q9NWT6 in multiple species
LBSAA sequence# speciesSpecies
A300FWYKGAPTPKR3Homo sapiens, Danio rerio, Mus musculus
A317AHQKVAIMRNI3Homo sapiens, Danio rerio, Mus musculus
D104KFLYYDEKKMA1Homo sapiens
D104KFLYYDEKKMV1Danio rerio
D104KFLYYDEKKMG1Mus musculus
D152QQTLNDTVGRK3Homo sapiens, Danio rerio, Mus musculus
D201TPAHYDEQQNF3Homo sapiens, Danio rerio, Mus musculus
D222ILFPPDQFECL2Homo sapiens, Mus musculus
D222ILFPPDQFDCL1Danio rerio
E105FLYYDEKKMAN1Homo sapiens
E105FLYYDEKKMVN1Danio rerio
E105FLYYDEKKMGN1Mus musculus
E202PAHYDEQQNFF3Homo sapiens, Danio rerio, Mus musculus
E225PPDQFECLYPY2Homo sapiens, Mus musculus
E225PPDQFDCLYPY1Danio rerio
F162KIVMDFLGFNW2Homo sapiens, Mus musculus
F162KIVVDFLGFNW1Danio rerio
F207EQQNFFAQIKG3Homo sapiens, Danio rerio, Mus musculus
F224FPPDQFECLYP2Homo sapiens, Mus musculus
F224FPPDQFDCLYP1Danio rerio
G299NFWYKGAPTPK3Homo sapiens, Danio rerio, Mus musculus
H199NVTPAHYDEQQ3Homo sapiens, Danio rerio, Mus musculus
H279PMYWWHHIESL3Homo sapiens, Danio rerio, Mus musculus
I273GDVLYIPMYWW3Homo sapiens, Danio rerio, Mus musculus
I281YWWHHIESLLN3Homo sapiens, Danio rerio, Mus musculus
I306PTPKRIEYPLK3Homo sapiens, Danio rerio, Mus musculus
I318HQKVAIMRNIE3Homo sapiens, Danio rerio, Mus musculus
I322AIMRNIEKMLG3Homo sapiens, Danio rerio, Mus musculus
K106LYYDEKKMANF1Homo sapiens
K106LYYDEKKMVNF1Danio rerio
K106LYYDEKKMGNF1Mus musculus
K214QIKGHKRCILF2Danio rerio, Mus musculus
K214QIKGYKRCILF1Homo sapiens
K298VNFWYKGAPTP3Homo sapiens, Danio rerio, Mus musculus
K304GAPTPKRIEYP3Homo sapiens, Danio rerio, Mus musculus
K315LKAHQKVAIMR3Homo sapiens, Danio rerio, Mus musculus
K324MRNIEKMLGEA3Homo sapiens, Danio rerio, Mus musculus
L150YLQQTLNDTVG3Homo sapiens, Danio rerio, Mus musculus
L163IVMDFLGFNWN2Homo sapiens, Mus musculus
L163IVVDFLGFNWN1Danio rerio
L182RGWGQLTSNLL2Homo sapiens, Mus musculus
L182RNWGPLTSNLL1Danio rerio
L186QLTSNLLLIGM2Homo sapiens, Mus musculus
L186PLTSNLLLIGM1Danio rerio
L188TSNLLLIGMEG3Homo sapiens, Danio rerio, Mus musculus
M275VLYIPMYWWHH3Homo sapiens, Danio rerio, Mus musculus
M319QKVAIMRNIEK3Homo sapiens, Danio rerio, Mus musculus
M325RNIEKMLGEAL3Homo sapiens, Danio rerio, Mus musculus
N151LQQTLNDTVGR3Homo sapiens, Danio rerio, Mus musculus
N205YDEQQNFFAQI3Homo sapiens, Danio rerio, Mus musculus
N294ITITVNFWYKG2Homo sapiens, Mus musculus
N294ETITVNFWYKG1Danio rerio
N321VAIMRNIEKML3Homo sapiens, Danio rerio, Mus musculus
P221CILFPPDQFEC2Homo sapiens, Mus musculus
P221CILFPPDQFDC1Danio rerio
P303KGAPTPKRIEY3Homo sapiens, Danio rerio, Mus musculus
Q147ERLYLQQTLND2Homo sapiens, Mus musculus
Q147GRVYLQQTLND1Danio rerio
Q148RLYLQQTLNDT2Homo sapiens, Mus musculus
Q148RVYLQQTLNDT1Danio rerio
Q181KRGWGQLTSNL2Homo sapiens, Mus musculus
Q181KRNWGPLTSNL1Danio rerio
Q203AHYDEQQNFFA3Homo sapiens, Danio rerio, Mus musculus
Q239HPCDRQSQVDF3Homo sapiens, Danio rerio, Mus musculus
Q314PLKAHQKVAIM3Homo sapiens, Danio rerio, Mus musculus
R238HHPCDRQSQVD3Homo sapiens, Danio rerio, Mus musculus
S184WGQLTSNLLLI2Homo sapiens, Mus musculus
S184WGPLTSNLLLI1Danio rerio
T149LYLQQTLNDTV2Homo sapiens, Mus musculus
T149VYLQQTLNDTV1Danio rerio
T153QTLNDTVGRKI3Homo sapiens, Danio rerio, Mus musculus
T183GWGQLTSNLLL2Homo sapiens, Mus musculus
T183NWGPLTSNLLL1Danio rerio
T196MEGNVTPAHYD3Homo sapiens, Danio rerio, Mus musculus
T302YKGAPTPKRIE3Homo sapiens, Danio rerio, Mus musculus
V159VGRKIVMDFLG2Homo sapiens, Mus musculus
V159VGRKIVVDFLG1Danio rerio
W167FLGFNWNWINK3Homo sapiens, Danio rerio, Mus musculus
W296ITVNFWYKGAP3Homo sapiens, Danio rerio, Mus musculus
Y102THKFLYYDEKK2Homo sapiens, Mus musculus
Y102NHKFLYYDEKK1Danio rerio
Y103HKFLYYDEKKM3Homo sapiens, Danio rerio, Mus musculus
Y145GEERLYLQQTL2Homo sapiens, Mus musculus
Y145GKGRVYLQQTL1Danio rerio
Y276LYIPMYWWHHI3Homo sapiens, Danio rerio, Mus musculus
Y308PKRIEYPLKAH3Homo sapiens, Danio rerio, Mus musculus
Y93GDFSVYSASTH2Homo sapiens, Mus musculus
Y93GDFSVYIAENH1Danio rerio


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