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mutLBSgeneDB |
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| Gene summary for RLBP1 |
 Gene summary |
| Basic gene Info. | Gene symbol | RLBP1 |
| Gene name | retinaldehyde binding protein 1 | |
| Synonyms | CRALBP | |
| Cytomap | UCSC genome browser: 15q26 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000326.4, | |
| Description | cellular retinaldehyde-binding proteincellular retinaldehyde-binding protein-1retinaldehyde-binding protein 1 | |
| Modification date | 20141219 | |
| dbXrefs | MIM : 180090 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000140522 | ||
| HPRD : 01572 | ||
| Vega : OTTHUMG00000172884 | ||
| Protein | UniProt: P12271 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_RLBP1 | |
| BioGPS: 6017 | ||
| Pathway | NCI Pathway Interaction Database: RLBP1 | |
| KEGG: RLBP1 | ||
| REACTOME: RLBP1 | ||
| Pathway Commons: RLBP1 | ||
| Context | iHOP: RLBP1 | |
| ligand binding site mutation search in PubMed: RLBP1 | ||
| UCL Cancer Institute: RLBP1 | ||
| 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 RLBP1 |
| 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 | I163 | E164Q | BLCA | 1 | F161 | F161S | GBM | 1 | M223 | M223I | HNSC | 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 RLBP1 |
| 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 | F161 | F161S | -1.2046411 | I163 | E164Q | -1.1400079 | M223 | M223I | -0.89415631 |
| (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 RLBP1 from PDB |
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| Differential gene expression and gene-gene network for RLBP1 |
| 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 RLBP1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C1405854 | Retinitis punctata albescens (disorder) | 11 | Biomarker, GeneticVariation |
| umls:C0035334 | Retinitis Pigmentosa | 5 | Biomarker, GeneticVariation |
| umls:C0311338 | Fundus Albipunctatus | 1 | Biomarker, GeneticVariation |
| umls:C0015398 | Eye Diseases, Hereditary | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for RLBP1 |
| 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|vet_approved | DB00162 | Vitamin A | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of RLBP1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | RET | RETINAL | 4cj6 | A | F161 I163 M223 | RET | RETINAL | 3hx3 | A | F161 M223 | RET | RETINAL | 3hy5 | A | F161 M223 | RET | RETINAL | 4ciz | A | M223 |
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| Conservation information for LBS of RLBP1 |
| Multiple alignments for P12271 in multiple species |
| LBS | AA sequence | # species | Species | E202 | GFCIIENFKGF | 2 | Homo sapiens, Bos taurus | E202 | GFCIVENFKGF | 1 | Mus musculus | F161 | RVVMLFNIENW | 3 | Homo sapiens, Mus musculus, Bos taurus | F173 | SQEITFDEILQ | 1 | Homo sapiens | F173 | CEEVTFDEILQ | 1 | Mus musculus | F173 | SEEITFDEILQ | 1 | Bos taurus | F204 | CIIENFKGFTM | 2 | Homo sapiens, Bos taurus | F204 | CIVENFKGFTM | 1 | Mus musculus | F240 | FKAIHFIHQPW | 2 | Homo sapiens, Mus musculus | F240 | FKAIHFIYQPW | 1 | Bos taurus | F247 | HQPWYFTTTYN | 2 | Homo sapiens, Mus musculus | F247 | YQPWYFTTTYN | 1 | Bos taurus | I163 | VMLFNIENWQS | 1 | Homo sapiens | I163 | VMLFNIENWHC | 1 | Mus musculus | I163 | VMLFNIENWDS | 1 | Bos taurus | I176 | ITFDEILQAYC | 2 | Homo sapiens, Bos taurus | I176 | VTFDEILQAYC | 1 | Mus musculus | I238 | ARFKAIHFIHQ | 2 | Homo sapiens, Mus musculus | I238 | ARFKAIHFIYQ | 1 | Bos taurus | L220 | LRTSDLRKMVD | 1 | Homo sapiens | L220 | LRPSDLKKMVD | 1 | Mus musculus | L220 | LRPSDLRKMVD | 1 | Bos taurus | L227 | KMVDMLQDSFP | 3 | Homo sapiens, Mus musculus, Bos taurus | L258 | VVKPFLKSKLL | 2 | Homo sapiens, Bos taurus | L258 | VVKPFLKNKLL | 1 | Mus musculus | M223 | SDLRKMVDMLQ | 2 | Homo sapiens, Bos taurus | M223 | SDLKKMVDMLQ | 1 | Mus musculus | T250 | WYFTTTYNVVK | 3 | Homo sapiens, Mus musculus, Bos taurus | V224 | DLRKMVDMLQD | 2 | Homo sapiens, Bos taurus | V224 | DLKKMVDMLQD | 1 | Mus musculus | V254 | TTYNVVKPFLK | 3 | Homo sapiens, Mus musculus, Bos taurus | V266 | KLLERVFVHGD | 1 | Homo sapiens | V266 | KLLQRVFVHGD | 1 | Mus musculus | V266 | KLLQRVFVHGE | 1 | Bos taurus | W166 | FNIENWQSQEI | 1 | Homo sapiens | W166 | FNIENWHCEEV | 1 | Mus musculus | W166 | FNIENWDSEEI | 1 | Bos taurus | Y180 | EILQAYCFILE | 2 | Homo sapiens, Mus musculus | Y180 | EILQAYCVILE | 1 | Bos taurus |
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