|
mutLBSgeneDB |
| |
| |
| |
| |
| |
| |
|
| Gene summary for PYCR1 |
 Gene summary |
| Basic gene Info. | Gene symbol | PYCR1 |
| Gene name | pyrroline-5-carboxylate reductase 1 | |
| Synonyms | ARCL2B|ARCL3B|P5C|P5CR|PIG45|PP222|PRO3|PYCR | |
| Cytomap | UCSC genome browser: 17q25.3 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001282279.1, NM_001282280.1,NM_001282281.1,NM_006907.3,NM_153824.2, | |
| Description | P5C reductase 1proliferation-inducing protein 45pyrroline-5-carboxylate reductase 1, mitochondrial | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 179035 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000183010 | ||
| HPRD : 01528 | ||
| Vega : OTTHUMG00000178436 | ||
| Protein | UniProt: P32322 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_PYCR1 | |
| BioGPS: 5831 | ||
| Pathway | NCI Pathway Interaction Database: PYCR1 | |
| KEGG: PYCR1 | ||
| REACTOME: PYCR1 | ||
| Pathway Commons: PYCR1 | ||
| Context | iHOP: PYCR1 | |
| ligand binding site mutation search in PubMed: PYCR1 | ||
| UCL Cancer Institute: PYCR1 | ||
| 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 | GO:0006561 | proline biosynthetic process | 16730026 |
| Top |
| Ligand binding site mutations for PYCR1 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | V231 | S233F | BLCA | 1 | L11 | F13V | STAD | 1 | A97 | V99I | UCEC | 1 | A97 | V99A | UCEC | 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. |
| Top |
| Protein structure related information for PYCR1 |
| 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. |
| LBS | AAchange of nsSNV | Relative stability change | L11 | F13V | -0.60786334 | A97 | V99A | -0.53823081 | V231 | S233F | -0.49454595 | A97 | V99I | -0.15460129 |
| (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 PYCR1 from PDB |
| Top |
| Differential gene expression and gene-gene network for PYCR1 |
| 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) |
| Top |
| Top |
| Phenotype information for PYCR1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C2751987 | Cutis Laxa, Autosomal Recessive, Type IIB | 4 | Biomarker, GeneticVariation |
| umls:C0010495 | Cutis Laxa | 3 | Biomarker |
| umls:C0033300 | Progeria | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
| Top |
| Pharmacological information for PYCR1 |
| 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 status | DrugBank ID | Name | Type | Drug structure |
| Nutraceutical | DB00157 | NADH | Small molecule |  |
| Approved|nutraceutical | DB00172 | L-Proline | Small molecule |  |
| Gene-centered ligand-gene interaction network |
 |
| Ligands binding to mutated ligand binding site of PYCR1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | NAD | NAD ZWITTERION | 2izz | A | L11 A97 | NAD | NAD ZWITTERION | 2izz | B | L11 A97 | NAD | NAD ZWITTERION | 2izz | C | L11 A97 | NAD | NAD ZWITTERION | 2izz | D | L11 A97 | NAD | NAD ZWITTERION | 2izz | E | L11 A97 | NAD | NAD ZWITTERION | 2izz | A | V231 | NAD | NAD ZWITTERION | 2izz | B | V231 | NAD | NAD ZWITTERION | 2izz | C | V231 |
| Top |
| Conservation information for LBS of PYCR1 |
| Multiple alignments for P32322 in multiple species |
| LBS | AA sequence | # species | Species | A69 | DVLFLAVKPHI | 3 | Homo sapiens, Bos taurus, Mus musculus | A8 | VGFIGAGQLAF | 3 | Homo sapiens, Bos taurus, Mus musculus | A96 | IVVSCAAGVTI | 3 | Homo sapiens, Bos taurus, Mus musculus | A97 | VVSCAAGVTIS | 2 | Homo sapiens, Bos taurus | A97 | VVSCAAGVTIN | 1 | Mus musculus | C95 | HIVVSCAAGVT | 3 | Homo sapiens, Bos taurus, Mus musculus | E130 | PVVVREGATVY | 2 | Homo sapiens, Bos taurus | E130 | PVVVREGVTVY | 1 | Mus musculus | E221 | MLLHSEQHPGQ | 1 | Homo sapiens | E221 | MLLDSEQHPGQ | 1 | Bos taurus | E221 | MLLDSEQHPSQ | 1 | Mus musculus | F158 | LSSVGFCTEVE | 1 | Homo sapiens | F158 | MSSVGFCTEVE | 1 | Bos taurus | F158 | MGSVGFCTEVE | 1 | Mus musculus | G157 | LLSSVGFCTEV | 1 | Homo sapiens | G157 | LMSSVGFCTEV | 1 | Bos taurus | G157 | LMGSVGFCTEV | 1 | Mus musculus | G7 | SVGFIGAGQLA | 3 | Homo sapiens, Bos taurus, Mus musculus | G9 | GFIGAGQLAFA | 3 | Homo sapiens, Bos taurus, Mus musculus | H219 | AKMLLDSEQHP | 2 | Bos taurus, Mus musculus | H219 | AKMLLHSEQHP | 1 | Homo sapiens | I6 | MSVGFIGAGQL | 3 | Homo sapiens, Bos taurus, Mus musculus | I74 | AVKPHIIPFIL | 3 | Homo sapiens, Bos taurus, Mus musculus | I78 | HIIPFILDEIG | 2 | Homo sapiens, Mus musculus | I78 | HIIPFILDEIA | 1 | Bos taurus | K215 | LLGAAKMLLDS | 2 | Bos taurus, Mus musculus | K215 | LLGAAKMLLHS | 1 | Homo sapiens | K71 | LFLAVKPHIIP | 3 | Homo sapiens, Bos taurus, Mus musculus | L11 | IGAGQLAFALA | 3 | Homo sapiens, Bos taurus, Mus musculus | L217 | GAAKMLLDSEQ | 2 | Bos taurus, Mus musculus | L217 | GAAKMLLHSEQ | 1 | Homo sapiens | L218 | AAKMLLDSEQH | 2 | Bos taurus, Mus musculus | L218 | AAKMLLHSEQH | 1 | Homo sapiens | L39 | SPDMDLATVSA | 2 | Homo sapiens, Bos taurus | L39 | SPDMDQATVSA | 1 | Mus musculus | M121 | KVIRCMTNTPV | 2 | Bos taurus, Mus musculus | M121 | RVIRCMTNTPV | 1 | Homo sapiens | N230 | GQLKDNVSSPG | 1 | Homo sapiens | N230 | GQLKDNVCSPG | 1 | Bos taurus | N230 | SQLKDNVCSPG | 1 | Mus musculus | N56 | KLTPHNKETVQ | 1 | Homo sapiens | N56 | NLTHHNKETVQ | 1 | Bos taurus | N56 | NLTPHNKETVR | 1 | Mus musculus | P35 | IMASSPDMDLA | 2 | Homo sapiens, Bos taurus | P35 | IMASSPDMDQA | 1 | Mus musculus | P72 | FLAVKPHIIPF | 3 | Homo sapiens, Bos taurus, Mus musculus | Q10 | FIGAGQLAFAL | 3 | Homo sapiens, Bos taurus, Mus musculus | R129 | TPVVVREGATV | 2 | Homo sapiens, Bos taurus | R129 | TPVVVREGVTV | 1 | Mus musculus | S154 | MEQLLSSVGFC | 1 | Homo sapiens | S154 | LEQLMSSVGFC | 1 | Bos taurus | S154 | VEQLMGSVGFC | 1 | Mus musculus | S155 | EQLLSSVGFCT | 1 | Homo sapiens | S155 | EQLMSSVGFCT | 1 | Bos taurus | S155 | EQLMGSVGFCT | 1 | Mus musculus | S220 | KMLLHSEQHPG | 1 | Homo sapiens | S220 | KMLLDSEQHPG | 1 | Bos taurus | S220 | KMLLDSEQHPS | 1 | Mus musculus | S34 | KIMASSPDMDL | 2 | Homo sapiens, Bos taurus | S34 | KIMASSPDMDQ | 1 | Mus musculus | T122 | VIRCMTNTPVV | 3 | Homo sapiens, Bos taurus, Mus musculus | T124 | RCMTNTPVVVR | 3 | Homo sapiens, Bos taurus, Mus musculus | V156 | QLLSSVGFCTE | 1 | Homo sapiens | V156 | QLMSSVGFCTE | 1 | Bos taurus | V156 | QLMGSVGFCTE | 1 | Mus musculus | V231 | QLKDNVCSPGG | 2 | Bos taurus, Mus musculus | V231 | QLKDNVSSPGG | 1 | Homo sapiens | V70 | VLFLAVKPHII | 3 | Homo sapiens, Bos taurus, Mus musculus |
 |
Copyright © 2016-Present - The University of Texas Health Science Center at Houston |