Q8IZX4 (TAF1L_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
December 14, 2011.
Version 76.
History...
Names·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Transcription initiation factor TFIID subunit 1-like Alternative name(s): TAF(II)210 TBP-associated factor 1-like TBP-associated factor 210 kDa Transcription initiation factor TFIID 210 kDa subunit | ||
| Gene names |
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| Organism | Homo sapiens (Human) | ||
| Taxonomic identifier | 9606 [NCBI] | ||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 1826 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | May act as a functional substitute for TAF1/TAFII250 during male meiosis, when sex chromosomes are transcriptionally silenced. Ref.1 |
| Subunit structure | Can bind directly to TATA-box binding protein (TBP). |
| Subcellular location | Nucleus By similarity. |
| Tissue specificity | Testis specific, expressed apparently in germ cells. |
| Sequence similarities | Belongs to the TAF1 family. Contains 2 bromo domains. |
Ontologies
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||||||||||||||||||||
Molecule processing | |||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 1826 | 1826 | Transcription initiation factor TFIID subunit 1-like | PRO_0000211217 | |||||||||||||||||||||||
Regions | |||||||||||||||||||||||||||
| Domain | 1416 – 1486 | 71 | Bromo 1 | ||||||||||||||||||||||||
| Domain | 1539 – 1609 | 71 | Bromo 2 | ||||||||||||||||||||||||
| Motif | 1370 – 1377 | 8 | Nuclear localization signal Potential | ||||||||||||||||||||||||
| Compositional bias | 156 – 164 | 9 | Pro-rich | ||||||||||||||||||||||||
Amino acid modifications | |||||||||||||||||||||||||||
| Disulfide bond | 1383 ↔ 1638 | By similarity | |||||||||||||||||||||||||
Natural variations | |||||||||||||||||||||||||||
| Natural variant | 47 | 1 | G → A in a lung small cell carcinoma sample; somatic mutation. Ref.2 | VAR_041934 | |||||||||||||||||||||||
| Natural variant | 171 | 1 | Q → E. Ref.2 | VAR_041935 | |||||||||||||||||||||||
| Natural variant | 256 | 1 | G → A. Ref.2 Corresponds to variant rs55991718 [ dbSNP | Ensembl ]. | VAR_041936 | |||||||||||||||||||||||
| Natural variant | 371 | 1 | M → V. Ref.2 Corresponds to variant rs17219559 [ dbSNP | Ensembl ]. | VAR_041937 | |||||||||||||||||||||||
| Natural variant | 532 | 1 | I → N. Ref.2 Corresponds to variant rs56128445 [ dbSNP | Ensembl ]. | VAR_041938 | |||||||||||||||||||||||
| Natural variant | 637 | 1 | P → S. Ref.2 Corresponds to variant rs56157814 [ dbSNP | Ensembl ]. | VAR_041939 | |||||||||||||||||||||||
| Natural variant | 750 | 1 | L → F in a lung adenocarcinoma sample; somatic mutation. Ref.2 | VAR_041940 | |||||||||||||||||||||||
| Natural variant | 762 | 1 | L → I in a lung adenocarcinoma sample; somatic mutation. Ref.2 | VAR_041941 | |||||||||||||||||||||||
| Natural variant | 794 | 1 | E → D in a lung adenocarcinoma sample; somatic mutation. Ref.2 | VAR_041942 | |||||||||||||||||||||||
| Natural variant | 820 | 1 | M → T. Corresponds to variant rs1258 [ dbSNP | Ensembl ]. | VAR_048434 | |||||||||||||||||||||||
| Natural variant | 845 | 1 | R → Q. Ref.2 Corresponds to variant rs34787787 [ dbSNP | Ensembl ]. | VAR_041943 | |||||||||||||||||||||||
| Natural variant | 1016 | 1 | R → C. Ref.2 Corresponds to variant rs35905429 [ dbSNP | Ensembl ]. | VAR_041944 | |||||||||||||||||||||||
| Natural variant | 1038 | 1 | K → N. Ref.2 Corresponds to variant rs55767137 [ dbSNP | Ensembl ]. | VAR_041945 | |||||||||||||||||||||||
| Natural variant | 1169 | 1 | T → I. Ref.2 Corresponds to variant rs55976674 [ dbSNP | Ensembl ]. | VAR_041946 | |||||||||||||||||||||||
| Natural variant | 1312 | 1 | V → L. Ref.2 Corresponds to variant rs55824107 [ dbSNP | Ensembl ]. | VAR_041947 | |||||||||||||||||||||||
| Natural variant | 1356 | 1 | R → C. Ref.2 Corresponds to variant rs56107531 [ dbSNP | Ensembl ]. | VAR_041948 | |||||||||||||||||||||||
| Natural variant | 1389 | 1 | P → S. Ref.2 Corresponds to variant rs56393725 [ dbSNP | Ensembl ]. | VAR_041949 | |||||||||||||||||||||||
| Natural variant | 1411 | 1 | I → V. Ref.2 Corresponds to variant rs34500740 [ dbSNP | Ensembl ]. | VAR_041950 | |||||||||||||||||||||||
| Natural variant | 1540 | 1 | A → T. Ref.2 Corresponds to variant rs55782058 [ dbSNP | Ensembl ]. | VAR_041951 | |||||||||||||||||||||||
| Natural variant | 1549 | 1 | H → Y in a glioblastoma multiforme sample; somatic mutation. Ref.2 | VAR_041952 | |||||||||||||||||||||||
| Natural variant | 1731 | 1 | K → N. Ref.2 Corresponds to variant rs34241003 [ dbSNP | Ensembl ]. | VAR_041953 | |||||||||||||||||||||||
| Natural variant | 1805 | 1 | I → V. Corresponds to variant rs16918393 [ dbSNP | Ensembl ]. | VAR_048435 | |||||||||||||||||||||||
| Natural variant | 1810 | 1 | P → L. Ref.2 Corresponds to variant rs56342342 [ dbSNP | Ensembl ]. | VAR_041954 | |||||||||||||||||||||||
| Natural variant | 1824 | 1 | H → Q in a lung adenocarcinoma sample; somatic mutation. Ref.2 | VAR_041955 | |||||||||||||||||||||||
Secondary structure | |||||||||||||||||||||||||||
Helix Strand Turn | |||||||||||||||||||||||||||
| Helix | 1523 – 1536 | 14 | |||||||||||||||||||||||||
| Turn | 1537 – 1540 | 4 | |||||||||||||||||||||||||
| Turn | 1542 – 1544 | 3 | |||||||||||||||||||||||||
| Helix | 1545 – 1547 | 3 | |||||||||||||||||||||||||
| Turn | 1553 – 1555 | 3 | |||||||||||||||||||||||||
| Helix | 1557 – 1562 | 6 | |||||||||||||||||||||||||
| Helix | 1569 – 1577 | 9 | |||||||||||||||||||||||||
| Helix | 1584 – 1601 | 18 | |||||||||||||||||||||||||
| Helix | 1607 – 1625 | 19 | |||||||||||||||||||||||||
| Helix | 1627 – 1649 | 23 | |||||||||||||||||||||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Functional substitution for TAF(II)250 by a retroposed homolog that is expressed in human spermatogenesis." Wang P.J., Page D.C. Hum. Mol. Genet. 11:2341-2346(2002) [PubMed: 12217962] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, INTERACTION WITH TBP. Tissue: Testis. |
| [2] | "Patterns of somatic mutation in human cancer genomes." Greenman C., Stephens P., Smith R., Dalgliesh G.L., Hunter C., Bignell G., Davies H., Teague J., Butler A., Stevens C., Edkins S., O'Meara S., Vastrik I., Schmidt E.E., Avis T., Barthorpe S., Bhamra G., Buck G. Stratton M.R.Nature 446:153-158(2007) [PubMed: 17344846] [Abstract] Cited for: VARIANTS [LARGE SCALE ANALYSIS] ALA-47; GLU-171; ALA-256; VAL-371; ASN-532; SER-637; PHE-750; ILE-762; ASP-794; GLN-845; CYS-1016; ASN-1038; ILE-1169; LEU-1312; CYS-1356; SER-1389; VAL-1411; THR-1540; TYR-1549; ASN-1731; LEU-1810 AND GLN-1824. |
Cross-references
Sequence databases | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| EMBL GenBank DDBJ | AF390562 mRNA. Translation: AAN40840.1. | ||||||||||||
| IPI | IPI00100867. | ||||||||||||
| RefSeq | NP_722516.1. NM_153809.2. | ||||||||||||
| UniGene | Hs.591086. | ||||||||||||
3D structure databases | |||||||||||||
| PDBe RCSB PDB PDBj |
| ||||||||||||
| ProteinModelPortal | Q8IZX4. | ||||||||||||
| SMR | Q8IZX4. Positions 28-84, 1378-1644. | ||||||||||||
| ModBase | Search... | ||||||||||||
Protein-protein interaction databases | |||||||||||||
| IntAct | Q8IZX4. 1 interaction. | ||||||||||||
| STRING | Q8IZX4. | ||||||||||||
Polymorphism databases | |||||||||||||
| DMDM | 57013082. | ||||||||||||
Proteomic databases | |||||||||||||
| PRIDE | Q8IZX4. | ||||||||||||
Protocols and materials databases | |||||||||||||
| StructuralBiologyKnowledgebase | Search... | ||||||||||||
Genome annotation databases | |||||||||||||
| Ensembl | ENST00000242310; ENSP00000418379; ENSG00000122728. | ||||||||||||
| GeneID | 138474. | ||||||||||||
| KEGG | hsa:138474. | ||||||||||||
| NMPDR | fig|9606.3.peg.31136. | ||||||||||||
| UCSC | uc003zrg.1. human. | ||||||||||||
Organism-specific databases | |||||||||||||
| CTD | 138474. | ||||||||||||
| GeneCards | GC09M032619. | ||||||||||||
| H-InvDB | HIX0034783. | ||||||||||||
| HGNC | HGNC:18056. TAF1L. | ||||||||||||
| MIM | 607798. gene. | ||||||||||||
| neXtProt | NX_Q8IZX4. | ||||||||||||
| PharmGKB | PA134947802. | ||||||||||||
| GenAtlas | Search... | ||||||||||||
Phylogenomic databases | |||||||||||||
| eggNOG | prNOG16035. | ||||||||||||
| GeneTree | ENSGT00390000012659. | ||||||||||||
| HOGENOM | HBG378506. | ||||||||||||
| HOVERGEN | HBG050223. | ||||||||||||
| InParanoid | Q8IZX4. | ||||||||||||
| OrthoDB | EOG4K3KVC. | ||||||||||||
| PhylomeDB | Q8IZX4. | ||||||||||||
Gene expression databases | |||||||||||||
| ArrayExpress | Q8IZX4. | ||||||||||||
| CleanEx | HS_TAF1L. | ||||||||||||
| Genevestigator | Q8IZX4. | ||||||||||||
| GermOnline | ENSG00000122728. Homo sapiens. | ||||||||||||
Family and domain databases | |||||||||||||
| InterPro | IPR001487. Bromodomain. IPR018359. Bromodomain_CS. IPR011177. TAF1_animal. IPR009067. TAF_II_230-bd. IPR022591. TFIID_sub1_DUF3591. [Graphical view] | ||||||||||||
| Gene3D | G3DSA:1.20.920.10. Bromodomain. 2 hits. | ||||||||||||
| KO | K03125. | ||||||||||||
| Pfam | PF00439. Bromodomain. 2 hits. PF12157. DUF3591. 1 hit. PF09247. TBP-binding. 1 hit. [Graphical view] | ||||||||||||
| PIRSF | PIRSF003047. TAF1_animal. 1 hit. | ||||||||||||
| PRINTS | PR00503. BROMODOMAIN. | ||||||||||||
| SMART | SM00297. BROMO. 2 hits. [Graphical view] | ||||||||||||
| SUPFAM | SSF47370. Bromodomain. 2 hits. SSF47055. TAF_II_230. 1 hit. | ||||||||||||
| PROSITE | PS00633. BROMODOMAIN_1. 2 hits. PS50014. BROMODOMAIN_2. 2 hits. [Graphical view] | ||||||||||||
| ProtoNet | Search... | ||||||||||||
Other | |||||||||||||
| NextBio | 83796. | ||||||||||||
| SOURCE | Search... | ||||||||||||
Entry information
| Entry name | TAF1L_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q8IZX4 Secondary accession number(s): Q0VG57 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. | ||||||||
Relevant documents
| Human chromosome 9 Human chromosome 9: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| PDB cross-references Index of Protein Data Bank (PDB) cross-references |
| SIMILARITY comments Index of protein domains and families |

Clusters with