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mutLBSgeneDB |
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| Gene summary for CD1D |
 Gene summary |
| Basic gene Info. | Gene symbol | CD1D |
| Gene name | CD1d molecule | |
| Synonyms | CD1A|R3 | |
| Cytomap | UCSC genome browser: 1q23.1 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001766.3, | |
| Description | CD1D antigen, d polypeptideHMC class I antigen-like glycoprotein CD1DR3G1T-cell surface glycoprotein CD1dantigen-presenting glycoprotein CD1ddifferentiation antigen CD1-alpha-3thymocyte antigen CD1D | |
| Modification date | 20141222 | |
| dbXrefs | MIM : 188410 | |
| HGNC : HGNC | ||
| HPRD : 01780 | ||
| Protein | UniProt: P15813 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_CD1D | |
| BioGPS: 912 | ||
| Pathway | NCI Pathway Interaction Database: CD1D | |
| KEGG: CD1D | ||
| REACTOME: CD1D | ||
| Pathway Commons: CD1D | ||
| Context | iHOP: CD1D | |
| ligand binding site mutation search in PubMed: CD1D | ||
| UCL Cancer Institute: CD1D | ||
| 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:0042102 | positive regulation of T cell proliferation | 19124746 | GO:0048006 | antigen processing and presentation, endogenous lipid antigen via MHC class Ib | 10523605 |
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| Ligand binding site mutations for CD1D |
| 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 | F132 | F131L | BLCA | 1 | Y91 | R92Q | BRCA | 1 | L114 | V116A | KIRC | 1 | T172 | T172K | KIRC | 1 | I87 | I87T | LUAD | 1 | F136 | Q137H | LUAD | 1 | D61 | S62L | LUAD | 1 | T42 | T42K | LUSC | 1 | W149 | W149L | LUSC | 1 | L108 | S109C | LUSC | 1 | A37 | F36Y | OV | 1 | L28 | P27L | SKCM | 1 | I141 | D140N | SKCM | 1 | C184,G182 | T183I | SKCM | 1 | V99 | V99M | STAD | 1 | G46 | D45G | STAD | 1 | W158 | L157P | STAD | 1 | R43 | R43C | STAD | 1 | L112 | P111L | UCEC | 1 | F187 | S189N | UCEC | 1 | F88,V90 | R89Q | 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. |
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| Protein structure related information for CD1D |
| 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 | G46 | D45G | 0.085514086 | L114 | V116A | -1.2893188 | T42 | T42K | -1.2781487 | W158 | L157P | -1.2330798 | F88 | R89Q | -1.2245574 | V90 | R89Q | -1.2245574 | V99 | V99M | -1.1749305 | I87 | I87T | -1.1027935 | T172 | T172K | -0.95877618 | L108 | S109C | -0.927402 | D61 | S62L | -0.87310453 | Y91 | R92Q | -0.77313967 | F136 | Q137H | -0.76829698 | G182 | T183I | -0.73137377 | C184 | T183I | -0.73137377 | F132 | F131L | -0.71226937 | A37 | F36Y | -0.64415287 | L112 | P111L | -0.6088159 | R43 | R43C | -0.5687601 | L28 | P27L | -0.39006638 | I141 | D140N | -0.36653281 | W149 | W149L | -0.046222948 | F187 | S189N | -0.041279143 |
| (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 CD1D from PDB |
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| Differential gene expression and gene-gene network for CD1D |
| 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 CD1D |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0017661 | Glomerulonephritis, IGA | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for CD1D |
| 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 |
| Experimental | DB04661 | Cis-tetracosenoyl sulfatide | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of CD1D 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 CD1D |
| Multiple alignments for P15813 in multiple species |
| LBS | AA sequence | # species | Species | A37 | QISSFANSSWT | 2 | Homo sapiens, Pan troglodytes | A37 | QMSSFANRSWS | 1 | Mus musculus | A37 | QISSFANRSWS | 1 | Rattus norvegicus | A48 | RTDGLAWLGEL | 2 | Homo sapiens, Pan troglodytes | A48 | RTDSVVWLGDL | 2 | Mus musculus, Rattus norvegicus | C184 | LLNGTCPQFVS | 2 | Homo sapiens, Pan troglodytes | C184 | LLNDTCPLFVR | 1 | Mus musculus | C184 | LLNDTCPQFVR | 1 | Rattus norvegicus | C30 | LFPLRCLQISS | 2 | Homo sapiens, Pan troglodytes | C30 | NYTFRCLQMSS | 1 | Mus musculus | C30 | NYTFGCLQISS | 1 | Rattus norvegicus | D169 | QVLNQDKWTRE | 2 | Homo sapiens, Pan troglodytes | D169 | KVLNADQGTSA | 1 | Mus musculus | D169 | KMLNADEGTRE | 1 | Rattus norvegicus | D61 | HSWSNDSDTVR | 2 | Homo sapiens, Pan troglodytes | D61 | HRWSNDSATIS | 1 | Mus musculus | D61 | HRWSNDSDTIS | 1 | Rattus norvegicus | D98 | SSFTRDVKEFA | 2 | Homo sapiens, Pan troglodytes | D98 | VSFTRDIQELV | 1 | Mus musculus | D98 | TSFTRDIKEIV | 1 | Rattus norvegicus | F102 | RDVKEFAKML- | 2 | Homo sapiens, Pan troglodytes | F102 | RDIQELVKMMS | 1 | Mus musculus | F102 | RDIKEIVKMMS | 1 | Rattus norvegicus | F132 | ASNNFFHVAFQ | 2 | Homo sapiens, Pan troglodytes | F132 | ASESFLHVAFQ | 2 | Mus musculus, Rattus norvegicus | F136 | FFHVAFQGKDI | 2 | Homo sapiens, Pan troglodytes | F136 | FLHVAFQGKYV | 1 | Mus musculus | F136 | FLHVAFQGEYV | 1 | Rattus norvegicus | F187 | GTCPQFVSGLL | 2 | Homo sapiens, Pan troglodytes | F187 | DTCPLFVRGLL | 1 | Mus musculus | F187 | DTCPQFVRGLL | 1 | Rattus norvegicus | F88 | TLQHIFRVYRS | 2 | Homo sapiens, Pan troglodytes | F88 | KLQHMFQVYRV | 1 | Mus musculus | F88 | KLQHMFQVYRT | 1 | Rattus norvegicus | F95 | VYRSSFTRDVK | 2 | Homo sapiens, Pan troglodytes | F95 | VYRVSFTRDIQ | 1 | Mus musculus | F95 | VYRTSFTRDIK | 1 | Rattus norvegicus | G182 | QWLLNGTCPQF | 2 | Homo sapiens, Pan troglodytes | G182 | QMLLNDTCPLF | 1 | Mus musculus | G182 | QILLNDTCPQF | 1 | Rattus norvegicus | G46 | WTRTDGLAWLG | 2 | Homo sapiens, Pan troglodytes | G46 | WSRTDSVVWLG | 2 | Mus musculus, Rattus norvegicus | H56 | GELQTHSWSND | 2 | Homo sapiens, Pan troglodytes | H56 | GDLQTHRWSND | 2 | Mus musculus, Rattus norvegicus | H86 | WETLQHIFRVY | 2 | Homo sapiens, Pan troglodytes | H86 | WEKLQHMFQVY | 2 | Mus musculus, Rattus norvegicus | I141 | FQGKDILSFQG | 2 | Homo sapiens, Pan troglodytes | I141 | FQGKYVVRFWG | 1 | Mus musculus | I141 | FQGEYVVRFHG | 1 | Rattus norvegicus | I87 | ETLQHIFRVYR | 2 | Homo sapiens, Pan troglodytes | I87 | EKLQHMFQVYR | 2 | Mus musculus, Rattus norvegicus | L108 | ML--RLSYPLE | 2 | Homo sapiens, Pan troglodytes | L108 | MMSPKEDYPIE | 2 | Mus musculus, Rattus norvegicus | L112 | RLSYPLELQVS | 2 | Homo sapiens, Pan troglodytes | L112 | KEDYPIEIQLS | 1 | Mus musculus | L112 | KEDYPIEVQLS | 1 | Rattus norvegicus | L114 | SYPLELQVSAG | 2 | Homo sapiens, Pan troglodytes | L114 | DYPIEIQLSAG | 1 | Mus musculus | L114 | DYPIEVQLSAG | 1 | Rattus norvegicus | L142 | QGKDILSFQGT | 2 | Homo sapiens, Pan troglodytes | L142 | QGKYVVRFWGT | 1 | Mus musculus | L142 | QGEYVVRFHGT | 1 | Rattus norvegicus | L166 | LAIQVLNQDKW | 2 | Homo sapiens, Pan troglodytes | L166 | LPIKVLNADQG | 1 | Mus musculus | L166 | LPIKMLNADEG | 1 | Rattus norvegicus | L179 | ETVQWLLNGTC | 2 | Homo sapiens, Pan troglodytes | L179 | ATVQMLLNDTC | 1 | Mus musculus | L179 | ETVQILLNDTC | 1 | Rattus norvegicus | L28 | QRLFPLRCLQI | 2 | Homo sapiens, Pan troglodytes | L28 | QKNYTFRCLQM | 1 | Mus musculus | L28 | Q-NYTFGCLQI | 1 | Rattus norvegicus | L31 | FPLRCLQISSF | 2 | Homo sapiens, Pan troglodytes | L31 | YTFRCLQMSSF | 1 | Mus musculus | L31 | YTFGCLQISSF | 1 | Rattus norvegicus | L47 | TRTDGLAWLGE | 2 | Homo sapiens, Pan troglodytes | L47 | SRTDSVVWLGD | 2 | Mus musculus, Rattus norvegicus | L84 | QQWETLQHIFR | 2 | Homo sapiens, Pan troglodytes | L84 | QQWEKLQHMFQ | 2 | Mus musculus, Rattus norvegicus | N181 | VQWLLNGTCPQ | 2 | Homo sapiens, Pan troglodytes | N181 | VQMLLNDTCPL | 1 | Mus musculus | N181 | VQILLNDTCPQ | 1 | Rattus norvegicus | N38 | ISSFANSSWTR | 2 | Homo sapiens, Pan troglodytes | N38 | MSSFANRSWSR | 1 | Mus musculus | N38 | ISSFANRSWSR | 1 | Rattus norvegicus | N60 | THSWSNDSDTV | 2 | Homo sapiens, Pan troglodytes | N60 | THRWSNDSATI | 1 | Mus musculus | N60 | THRWSNDSDTI | 1 | Rattus norvegicus | Q32 | PLRCLQISSFA | 2 | Homo sapiens, Pan troglodytes | Q32 | TFRCLQMSSFA | 1 | Mus musculus | Q32 | TFGCLQISSFA | 1 | Rattus norvegicus | R43 | NSSWTRTDGLA | 2 | Homo sapiens, Pan troglodytes | R43 | NRSWSRTDSVV | 2 | Mus musculus, Rattus norvegicus | R97 | RSSFTRDVKEF | 2 | Homo sapiens, Pan troglodytes | R97 | RVSFTRDIQEL | 1 | Mus musculus | R97 | RTSFTRDIKEI | 1 | Rattus norvegicus | S94 | RVYRSSFTRDV | 2 | Homo sapiens, Pan troglodytes | S94 | QVYRVSFTRDI | 1 | Mus musculus | S94 | QVYRTSFTRDI | 1 | Rattus norvegicus | T172 | NQDKWTRETVQ | 2 | Homo sapiens, Pan troglodytes | T172 | NADQGTSATVQ | 1 | Mus musculus | T172 | NADEGTRETVQ | 1 | Rattus norvegicus | T175 | KWTRETVQWLL | 2 | Homo sapiens, Pan troglodytes | T175 | QGTSATVQMLL | 1 | Mus musculus | T175 | EGTRETVQILL | 1 | Rattus norvegicus | T42 | ANSSWTRTDGL | 2 | Homo sapiens, Pan troglodytes | T42 | ANRSWSRTDSV | 2 | Mus musculus, Rattus norvegicus | V134 | NNFFHVAFQGK | 2 | Homo sapiens, Pan troglodytes | V134 | ESFLHVAFQGK | 1 | Mus musculus | V134 | ESFLHVAFQGE | 1 | Rattus norvegicus | V176 | WTRETVQWLLN | 2 | Homo sapiens, Pan troglodytes | V176 | GTSATVQMLLN | 1 | Mus musculus | V176 | GTRETVQILLN | 1 | Rattus norvegicus | V65 | NDSDTVRSLKP | 2 | Homo sapiens, Pan troglodytes | V65 | NDSATISFTKP | 1 | Mus musculus | V65 | NDSDTISFTKP | 1 | Rattus norvegicus | V90 | QHIFRVYRSSF | 2 | Homo sapiens, Pan troglodytes | V90 | QHMFQVYRVSF | 1 | Mus musculus | V90 | QHMFQVYRTSF | 1 | Rattus norvegicus | V99 | SFTRDVKEFAK | 2 | Homo sapiens, Pan troglodytes | V99 | SFTRDIQELVK | 1 | Mus musculus | V99 | SFTRDIKEIVK | 1 | Rattus norvegicus | W149 | FQGTSWEPTQE | 2 | Homo sapiens, Pan troglodytes | W149 | FWGTSWQTVPG | 1 | Mus musculus | W149 | FHGTSWQKVPE | 1 | Rattus norvegicus | W158 | QEAPLWVNLAI | 2 | Homo sapiens, Pan troglodytes | W158 | PGAPSWLDLPI | 1 | Mus musculus | W158 | PEAPSWLDLPI | 1 | Rattus norvegicus | W171 | LNQDKWTRETV | 2 | Homo sapiens, Pan troglodytes | W171 | LNADQGTSATV | 1 | Mus musculus | W171 | LNADEGTRETV | 1 | Rattus norvegicus | W41 | FANSSWTRTDG | 2 | Homo sapiens, Pan troglodytes | W41 | FANRSWSRTDS | 2 | Mus musculus, Rattus norvegicus | W58 | LQTHSWSNDSD | 2 | Homo sapiens, Pan troglodytes | W58 | LQTHRWSNDSA | 1 | Mus musculus | W58 | LQTHRWSNDSD | 1 | Rattus norvegicus | W81 | FSDQQWETLQH | 2 | Homo sapiens, Pan troglodytes | W81 | LSNQQWEKLQH | 1 | Mus musculus | W81 | FSNQQWEKLQH | 1 | Rattus norvegicus | Y91 | HIFRVYRSSFT | 2 | Homo sapiens, Pan troglodytes | Y91 | HMFQVYRVSFT | 1 | Mus musculus | Y91 | HMFQVYRTSFT | 1 | Rattus norvegicus |
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