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mutLBSgeneDB |
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| Gene summary for P4HA1 |
 Gene summary |
| Basic gene Info. | Gene symbol | P4HA1 |
| Gene name | prolyl 4-hydroxylase, alpha polypeptide I | |
| Synonyms | P4HA | |
| Cytomap | UCSC genome browser: 10q21.3-q23.1 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000917.3, NM_001017962.2,NM_001142595.1,NM_001142596.1, | |
| Description | C-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 date | 20141207 | |
| dbXrefs | MIM : 176710 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000122884 | ||
| HPRD : 08901 | ||
| Vega : OTTHUMG00000018449 | ||
| Protein | UniProt: P13674 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_P4HA1 | |
| BioGPS: 5033 | ||
| Pathway | NCI Pathway Interaction Database: P4HA1 | |
| KEGG: P4HA1 | ||
| REACTOME: P4HA1 | ||
| Pathway Commons: P4HA1 | ||
| Context | iHOP: P4HA1 | |
| ligand binding site mutation search in PubMed: P4HA1 | ||
| UCL Cancer Institute: P4HA1 | ||
| Assigned class in mutLBSgeneDB | C: This gene just belongs to mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID |
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| 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. |
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| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | Y180 | Y181S | STAD | 1 |
| 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 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 |
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| 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. |
| LBS | AAchange of nsSNV | Relative stability change | Y180 | Y181S | -1.4160002 |
| (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 |
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| 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) |
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| Phenotype information for P4HA1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| 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. |
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| Gene-centered drug-gene interaction network |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Approved|nutraceutical | DB00126 | Vitamin C | Small molecule |  |
| Approved|nutraceutical | DB00139 | Succinic acid | Small molecule |  |
| Approved|nutraceutical | DB00172 | L-Proline | Small molecule |  |
| Approved | DB01275 | Hydralazine | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of P4HA1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS |
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| Conservation information for LBS of P4HA1 |
| Multiple alignments for P13674 in multiple species |
| LBS | AA sequence | # species | Species | A178 | VAYTEADYYHT | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | A178 | SAYNQKDYYHC | 1 | Caenorhabditis elegans | A178 | AAYNEHDFYHT | 1 | Caenorhabditis elegans | D209 | KVSVLDYLSYA | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | D209 | EWEILEYLAYS | 1 | Caenorhabditis elegans | D209 | VEDILEYLAFA | 1 | Caenorhabditis elegans | F248 | GNLKYFEYIMA | 2 | Homo sapiens, Bos taurus | F248 | GNLVYFEYIMS | 2 | Mus musculus, Rattus norvegicus | F248 | GNVKWYEDMLQ | 1 | Caenorhabditis elegans | F248 | GNVKWYEDLLE | 1 | Caenorhabditis elegans | G243 | HQRANGNLKYF | 2 | Homo sapiens, Bos taurus | G243 | HQRANGNLVYF | 2 | Mus musculus, Rattus norvegicus | G243 | HPRAKGNVKWY | 2 | Caenorhabditis elegans, Caenorhabditis elegans | K246 | ANGNLKYFEYI | 2 | Homo sapiens, Bos taurus | K246 | ANGNLVYFEYI | 2 | Mus musculus, Rattus norvegicus | K246 | AKGNVKWYEDM | 1 | Caenorhabditis elegans | K246 | AKGNVKWYEDL | 1 | Caenorhabditis elegans | N244 | QRANGNLKYFE | 2 | Homo sapiens, Bos taurus | N244 | QRANGNLVYFE | 2 | Mus musculus, Rattus norvegicus | N244 | PRAKGNVKWYE | 2 | Caenorhabditis elegans, Caenorhabditis elegans | R240 | DPEHQRANGNL | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | R240 | APNHPRAKGNV | 1 | Caenorhabditis elegans | R240 | NPTHPRAKGNV | 1 | Caenorhabditis elegans | T176 | GKVAYTEADYY | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | T176 | GRSAYNQKDYY | 1 | Caenorhabditis elegans | T176 | ARAAYNEHDFY | 1 | Caenorhabditis elegans | Y175 | LGKVAYTEADY | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | Y175 | VGRSAYNQKDY | 1 | Caenorhabditis elegans | Y175 | IARAAYNEHDF | 1 | Caenorhabditis elegans | Y180 | YTEADYYHTEL | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | Y180 | YNQKDYYHCLM | 1 | Caenorhabditis elegans | Y180 | YNEHDFYHTVM | 1 | Caenorhabditis elegans | Y210 | VSVLDYLSYAV | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | Y210 | WEILEYLAYSL | 1 | Caenorhabditis elegans | Y210 | EDILEYLAFAL | 1 | Caenorhabditis elegans | Y213 | LDYLSYAVYQQ | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | Y213 | LEYLAYSLYQQ | 1 | Caenorhabditis elegans | Y213 | LEYLAFALYKQ | 1 | Caenorhabditis elegans | Y216 | LSYAVYQQGDL | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | Y216 | LAYSLYQQGNV | 1 | Caenorhabditis elegans | Y216 | LAFALYKQNNL | 1 | Caenorhabditis elegans | Y247 | NGNLKYFEYIM | 2 | Homo sapiens, Bos taurus | Y247 | NGNLVYFEYIM | 2 | Mus musculus, Rattus norvegicus | Y247 | KGNVKWYEDML | 1 | Caenorhabditis elegans | Y247 | KGNVKWYEDLL | 1 | Caenorhabditis elegans | Y250 | LKYFEYIMAKE | 2 | Homo sapiens, Bos taurus | Y250 | LVYFEYIMSKE | 2 | Mus musculus, Rattus norvegicus | Y250 | VKWYEDMLQ-- | 1 | Caenorhabditis elegans | Y250 | VKWYEDLLEQE | 1 | Caenorhabditis elegans |
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