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 P4HA1
Gene summary
Basic gene Info.Gene symbolP4HA1
Gene nameprolyl 4-hydroxylase, alpha polypeptide I
CytomapUCSC genome browser: 10q21.3-q23.1
Type of geneprotein-coding
DescriptionC-P4Halpha(I)collagen prolyl 4-hydroxylase alpha(I)procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide Iprocollagen-proline,2-oxoglutarate-4-dioxygenase subunit alpha-1prolyl 4-hydroxylase subunit alpha-1
Modification date20141207
dbXrefs MIM : 176710
Ensembl : ENSG00000122884
HPRD : 08901
Vega : OTTHUMG00000018449
ProteinUniProt: P13674
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_P4HA1
BioGPS: 5033
PathwayNCI Pathway Interaction Database: P4HA1
Pathway Commons: P4HA1
ContextiHOP: P4HA1
ligand binding site mutation search in PubMed: P4HA1
UCL Cancer Institute: P4HA1
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 P4HA1
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
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 P4HA1
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 P4HA1 from PDB

Differential gene expression and gene-gene network for P4HA1
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 P4HA1 and the right PPI network was created from samples without mutations in the LBS of P4HA1. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Phenotype information for P4HA1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type

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

Pharmacological information for P4HA1
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|nutraceuticalDB00126Vitamin CSmall molecule
Approved|nutraceuticalDB00139Succinic acidSmall molecule
Approved|nutraceuticalDB00172L-ProlineSmall molecule
ApprovedDB01275HydralazineSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of P4HA1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS

Conservation information for LBS of P4HA1
Multiple alignments for P13674 in multiple species
LBSAA sequence# speciesSpecies
A178VAYTEADYYHT4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
A178SAYNQKDYYHC1Caenorhabditis elegans
A178AAYNEHDFYHT1Caenorhabditis elegans
D209KVSVLDYLSYA4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
D209EWEILEYLAYS1Caenorhabditis elegans
D209VEDILEYLAFA1Caenorhabditis elegans
F248GNLKYFEYIMA2Homo sapiens, Bos taurus
F248GNLVYFEYIMS2Mus musculus, Rattus norvegicus
F248GNVKWYEDMLQ1Caenorhabditis elegans
F248GNVKWYEDLLE1Caenorhabditis elegans
G243HQRANGNLKYF2Homo sapiens, Bos taurus
G243HQRANGNLVYF2Mus musculus, Rattus norvegicus
G243HPRAKGNVKWY2Caenorhabditis elegans, Caenorhabditis elegans
K246ANGNLKYFEYI2Homo sapiens, Bos taurus
K246ANGNLVYFEYI2Mus musculus, Rattus norvegicus
K246AKGNVKWYEDM1Caenorhabditis elegans
K246AKGNVKWYEDL1Caenorhabditis elegans
N244QRANGNLKYFE2Homo sapiens, Bos taurus
N244QRANGNLVYFE2Mus musculus, Rattus norvegicus
N244PRAKGNVKWYE2Caenorhabditis elegans, Caenorhabditis elegans
R240DPEHQRANGNL4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
R240APNHPRAKGNV1Caenorhabditis elegans
R240NPTHPRAKGNV1Caenorhabditis elegans
T176GKVAYTEADYY4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
T176GRSAYNQKDYY1Caenorhabditis elegans
T176ARAAYNEHDFY1Caenorhabditis elegans
Y175LGKVAYTEADY4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
Y175VGRSAYNQKDY1Caenorhabditis elegans
Y175IARAAYNEHDF1Caenorhabditis elegans
Y180YTEADYYHTEL4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
Y180YNQKDYYHCLM1Caenorhabditis elegans
Y180YNEHDFYHTVM1Caenorhabditis elegans
Y210VSVLDYLSYAV4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
Y210WEILEYLAYSL1Caenorhabditis elegans
Y210EDILEYLAFAL1Caenorhabditis elegans
Y213LDYLSYAVYQQ4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
Y213LEYLAYSLYQQ1Caenorhabditis elegans
Y213LEYLAFALYKQ1Caenorhabditis elegans
Y216LSYAVYQQGDL4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
Y216LAYSLYQQGNV1Caenorhabditis elegans
Y216LAFALYKQNNL1Caenorhabditis elegans
Y247NGNLKYFEYIM2Homo sapiens, Bos taurus
Y247NGNLVYFEYIM2Mus musculus, Rattus norvegicus
Y247KGNVKWYEDML1Caenorhabditis elegans
Y247KGNVKWYEDLL1Caenorhabditis elegans
Y250LKYFEYIMAKE2Homo sapiens, Bos taurus
Y250LVYFEYIMSKE2Mus musculus, Rattus norvegicus
Y250VKWYEDMLQ--1Caenorhabditis elegans
Y250VKWYEDLLEQE1Caenorhabditis elegans

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