|
mutLBSgeneDB |
| |
| |
| |
| |
| |
| |
|
| Gene summary for TAF1 |
 Gene summary |
| Basic gene Info. | Gene symbol | TAF1 |
| Gene name | TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa | |
| Synonyms | BA2R|CCG1|CCGS|DYT3|DYT3/TAF1|KAT4|N-TAF1|NSCL2|OF|P250|TAF(II)250|TAF2A|TAFII-250|TAFII250|XDP | |
| Cytomap | UCSC genome browser: Xq13.1 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001286074.1, NM_004606.4,NM_138923.3,NR_104387.1,NR_104388.1, NR_104389.1,NR_104390.1,NR_104391.1,NR_104392.1, NR_104393.1,NR_104394.1,NR_104395.1,NR_104396.1, | |
| Description | TBP-associated factor 250 kDacell cycle gene 1 proteincell cycle, G1 phase defectcomplementation of cell cycle block, G1-to-Stranscription factor TFIID p250 polypeptidetranscription initiation factor TFIID subunit 1 | |
| Modification date | 20141219 | |
| dbXrefs | MIM : 313650 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000147133 | ||
| HPRD : 02436 | ||
| Vega : OTTHUMG00000022723 | ||
| Protein | UniProt: P21675 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_TAF1 | |
| BioGPS: 6872 | ||
| Pathway | NCI Pathway Interaction Database: TAF1 | |
| KEGG: TAF1 | ||
| REACTOME: TAF1 | ||
| Pathway Commons: TAF1 | ||
| Context | iHOP: TAF1 | |
| ligand binding site mutation search in PubMed: TAF1 | ||
| UCL Cancer Institute: TAF1 | ||
| Assigned class in mutLBSgeneDB | B: This gene belongs to targetable_mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID | GO:0016573 | histone acetylation | 8980232 | GO:0018105 | peptidyl-serine phosphorylation | 8625415 | GO:0018107 | peptidyl-threonine phosphorylation | 15053879 | GO:0032436 | positive regulation of proteasomal ubiquitin-dependent protein catabolic process | 15053879 | GO:0045944 | positive regulation of transcription from RNA polymerase II promoter | 17996705 | GO:0046777 | protein autophosphorylation | 8625415 |
| Top |
| Ligand binding site mutations for TAF1 |
| 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 |
| LBS | AAchange of nsSNV | Cancer type | # samples | Y1589 | S1587R | LUSC | 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 TAF1 |
| 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 | Y1589 | S1587R | -0.649918 |
| (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 TAF1 from PDB |
| Top |
| Differential gene expression and gene-gene network for TAF1 |
| 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 TAF1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C1839130 | Dystonia 3, Torsion, X-Linked | 14 | Biomarker, GeneticVariation |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
| Top |
| Pharmacological information for TAF1 |
| 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. |
 |
| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Gene-centered ligand-gene interaction network |
 |
| Ligands binding to mutated ligand binding site of TAF1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | III | Peptide ligand (LYS,GLY,GLY,LYS,GLY,LEU,GLY) | 4yym | A | Y1589 | III | Peptide ligand (LYS,GLY,GLY,LYS,GLY,LEU,GLY) | 4yym | B | Y1589 | III | Peptide ligand (SER,GLY,ARG,GLY,LYS,GLY,GLY,LYS,GLY,LEU,GLY) | 4yyn | A | Y1589 | III | Peptide ligand (SER,GLY,ARG,GLY,LYS,GLY,GLY,LYS,GLY,LEU,GLY) | 4yyn | B | Y1589 |
| Top |
| Conservation information for LBS of TAF1 |
| Multiple alignments for P21675 in multiple species |
| LBS | AA sequence | # species | Species | D1524 | MMAVPDSWPFH | 1 | Homo sapiens | D1524 | MKNIPKSALFH | 1 | Caenorhabditis elegans | D1524 | IKQLPESWPFL | 1 | Drosophila melanogaster | D1539 | KKFVPDYYKVI | 1 | Homo sapiens | D1539 | PKKIPAYYLKI | 1 | Caenorhabditis elegans | D1539 | KKQVKDYYTVI | 1 | Drosophila melanogaster | F1528 | PDSWPFHHPVN | 1 | Homo sapiens | F1528 | PKSALFHTRVD | 1 | Caenorhabditis elegans | F1528 | PESWPFLKPVN | 1 | Drosophila melanogaster | F1536 | PVNKKFVPDYY | 1 | Homo sapiens | F1536 | RVDPKKIPAYY | 1 | Caenorhabditis elegans | F1536 | PVNKKQVKDYY | 1 | Drosophila melanogaster | G1584 | SVKYNGPESQY | 1 | Homo sapiens | G1584 | SVVFNGAESVY | 1 | Caenorhabditis elegans | G1584 | CEQYNGSDTRY | 1 | Drosophila melanogaster | H1530 | SWPFHHPVNKK | 1 | Homo sapiens | H1530 | SALFHTRVDPK | 1 | Caenorhabditis elegans | H1530 | SWPFLKPVNKK | 1 | Drosophila melanogaster | K1542 | VPDYYKVIVNP | 1 | Homo sapiens | K1542 | IPAYYLKISDP | 1 | Caenorhabditis elegans | K1542 | VKDYYTVIKRP | 1 | Drosophila melanogaster | K1581 | LANSVKYNGPE | 1 | Homo sapiens | K1581 | YTNSVVFNGAE | 1 | Caenorhabditis elegans | K1581 | ATNCEQYNGSD | 1 | Drosophila melanogaster | M1548 | VIVNPMDLETI | 1 | Homo sapiens | M1548 | KISDPMDLSIM | 1 | Caenorhabditis elegans | M1548 | VIKRPMDLETI | 1 | Drosophila melanogaster | N1583 | NSVKYNGPESQ | 1 | Homo sapiens | N1583 | NSVVFNGAESV | 1 | Caenorhabditis elegans | N1583 | NCEQYNGSDTR | 1 | Drosophila melanogaster | P1527 | VPDSWPFHHPV | 1 | Homo sapiens | P1527 | IPKSALFHTRV | 1 | Caenorhabditis elegans | P1527 | LPESWPFLKPV | 1 | Drosophila melanogaster | V1532 | PFHHPVNKKFV | 1 | Homo sapiens | V1532 | LFHTRVDPKKI | 1 | Caenorhabditis elegans | V1532 | PFLKPVNKKQV | 1 | Drosophila melanogaster | V1537 | VNKKFVPDYYK | 1 | Homo sapiens | V1537 | VDPKKIPAYYL | 1 | Caenorhabditis elegans | V1537 | VNKKQVKDYYT | 1 | Drosophila melanogaster | W1526 | AVPDSWPFHHP | 1 | Homo sapiens | W1526 | NIPKSALFHTR | 1 | Caenorhabditis elegans | W1526 | QLPESWPFLKP | 1 | Drosophila melanogaster | Y1540 | KFVPDYYKVIV | 1 | Homo sapiens | Y1540 | KKIPAYYLKIS | 1 | Caenorhabditis elegans | Y1540 | KQVKDYYTVIK | 1 | Drosophila melanogaster | Y1582 | ANSVKYNGPES | 1 | Homo sapiens | Y1582 | TNSVVFNGAES | 1 | Caenorhabditis elegans | Y1582 | TNCEQYNGSDT | 1 | Drosophila melanogaster | Y1589 | GPESQYTKTAQ | 1 | Homo sapiens | Y1589 | GAESVYSLKAK | 1 | Caenorhabditis elegans | Y1589 | GSDTRYTKFSK | 1 | Drosophila melanogaster |
 |
Copyright © 2016-Present - The University of Texas Health Science Center at Houston |