TAF8

TAF8
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 4WV6, 5FUR
Identifiers
Aliases	TAF8 , 43, II, TAF, TAFII-43, TAFII43, TBN, TATA-box binding protein associated factor 8, TAF(II)43
External IDs	OMIM: 609514 MGI: 1926879 HomoloGene: 11094 GeneCards: TAF8
Gene location (Human) Chr. Chromosome 6 (human) [1] Band 6p21.1 Start 42,050,513 bp [1] End 42,087,461 bp [1]
Gene location (Mouse) Chr. Chromosome 17 (mouse) [2] Band 17|17 C Start 47,794,289 bp [2] End 47,813,217 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in oocyte monocyte bone marrow cells left ventricle gastrocnemius muscle appendix blood secondary oocyte lymph node right lobe of thyroid gland Top expressed in secondary oocyte thymus yolk sac morula spermatocyte lip neural tube renal corpuscle medullary collecting duct spleen More reference expression data BioGPS n/a
Gene ontology Molecular function protein binding protein heterodimerization activity Cellular component cytoplasm perinuclear region of cytoplasm nucleus nucleoplasm transcription factor TFIID complex Biological process positive regulation of transcription, DNA-templated multicellular organism development cell differentiation regulation of transcription, DNA-templated regulation of fat cell differentiation transcription, DNA-templated maintenance of protein location in nucleus inner cell mass cell proliferation snRNA transcription by RNA polymerase II Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 129685 63856 Ensembl ENSG00000137413 ENSMUSG00000023980 UniProt Q7Z7C8 Q9EQH4 RefSeq (mRNA) NM_138572 NM_022015 NM_001356290 RefSeq (protein) NP_612639 NP_071298 NP_001343219 Location (UCSC) Chr 6: 42.05 – 42.09 Mb Chr 17: 47.79 – 47.81 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Transcription initiation factor TFIID subunit 8 is a protein that in humans is encoded by the TAF8 gene. ^[5]

This gene encodes one of several TATA-binding protein (TBP)-associated factors (TAFs), which are integral subunits of the general transcription factor complex TFIID. TFIID recognizes the core promoter of many genes and nucleates the assembly of a transcription preinitiation complex containing RNA polymerase II and other initiation factors. The protein encoded by this gene contains an H4-like histone fold domain, and interacts with several subunits of TFIID including TBP and the histone-fold protein TAF10. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. ^[5]

Clinical significance

Mutations of the TAF8 gene cause a neurodegenerative disorder first described in 2022 ^[6] and presenting as severe psychomotor retardation with almost absent development, feeding problems, microcephaly, growth retardation, spasticity and epilepsy.

References

1. GRCh38: Ensembl release 89: ENSG00000137413 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000023980 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "Entrez Gene: TBN taube nuss homolog (mouse)".
6. Wong KM, Jepsen WM, Efthymiou S, Salpietro V, Sanchez-Castillo M, Yip J, Kriouile Y, Diegmann S, Dreha-Kulaczewski S, Altmüller J, Thiele H, Nürnberg P, Toosi MB, Akhondian J, Ghayoor Karimiani E, Hummel-Abmeier H, Huppke B, Houlden H, Gärtner J, Maroofian R, Huppke P (June 2022). "Mutations in TAF8 cause a neurodegenerative disorder". Brain: A Journal of Neurology. 145 (9): 3022–3034. doi:10.1093/brain/awac154. PMID   35759269.

Further reading

• Zhou Q, Sharp PA (1995). "Novel mechanism and factor for regulation by HIV-1 Tat". EMBO J. 14 (2): 321–8. doi:10.1002/j.1460-2075.1995.tb07006.x. PMC   398086 . PMID   7835343.
• Parada CA, Yoon JB, Roeder RG (1995). "A novel LBP-1-mediated restriction of HIV-1 transcription at the level of elongation in vitro". J. Biol. Chem. 270 (5): 2274–83. doi: 10.1074/jbc.270.5.2274 . PMID   7836461.
• Ou SH, Garcia-Martínez LF, Paulssen EJ, Gaynor RB (1994). "Role of flanking E box motifs in human immunodeficiency virus type 1 TATA element function". J. Virol. 68 (11): 7188–99. doi:10.1128/JVI.68.11.7188-7199.1994. PMC   237158 . PMID   7933101.
• Kashanchi F, Piras G, Radonovich MF, et al. (1994). "Direct interaction of human TFIID with the HIV-1 transactivator tat". Nature. 367 (6460): 295–9. Bibcode:1994Natur.367..295K. doi:10.1038/367295a0. PMID   8121496. S2CID   4362048.
• Wang Z, Morris GF, Rice AP, et al. (1996). "Wild-type and transactivation-defective mutants of human immunodeficiency virus type 1 Tat protein bind human TATA-binding protein in vitro". J. Acquir. Immune Defic. Syndr. Hum. Retrovirol. 12 (2): 128–38. doi:10.1097/00042560-199606010-00005. PMID   8680883.
• Pendergrast PS, Morrison D, Tansey WP, Hernandez N (1996). "Mutations in the carboxy-terminal domain of TBP affect the synthesis of human immunodeficiency virus type 1 full-length and short transcripts similarly". J. Virol. 70 (8): 5025–34. doi:10.1128/JVI.70.8.5025-5034.1996. PMC   190456 . PMID   8764009.
• Kashanchi F, Khleif SN, Duvall JF, et al. (1996). "Interaction of human immunodeficiency virus type 1 Tat with a unique site of TFIID inhibits negative cofactor Dr1 and stabilizes the TFIID-TFIIA complex". J. Virol. 70 (8): 5503–10. doi:10.1128/JVI.70.8.5503-5510.1996. PMC   190508 . PMID   8764062.
• Zhou Q, Sharp PA (1996). "Tat-SF1: cofactor for stimulation of transcriptional elongation by HIV-1 Tat". Science. 274 (5287): 605–10. Bibcode:1996Sci...274..605Z. doi:10.1126/science.274.5287.605. PMID   8849451. S2CID   13266489.
• García-Martínez LF, Ivanov D, Gaynor RB (1997). "Association of Tat with purified HIV-1 and HIV-2 transcription preinitiation complexes". J. Biol. Chem. 272 (11): 6951–8. doi: 10.1074/jbc.272.11.6951 . PMID   9054383.
• Purrello M, Di Pietro C, Viola A, et al. (1998). "Genomics and transcription analysis of human TFIID". Oncogene. 16 (12): 1633–8. doi: 10.1038/sj.onc.1201673 . PMID   9569032.
• Guermah M, Tao Y, Roeder RG (2001). "Positive and Negative TAFII Functions That Suggest a Dynamic TFIID Structure and Elicit Synergy with TRAPs in Activator-Induced Transcription". Mol. Cell. Biol. 21 (20): 6882–94. doi:10.1128/MCB.21.20.6882-6894.2001. PMC   99865 . PMID   11564872.
• Tora L (2002). "A unified nomenclature for TATA box binding protein (TBP)-associated factors (TAFs) involved in RNA polymerase II transcription". Genes Dev. 16 (6): 673–5. doi: 10.1101/gad.976402 . PMID   11963920.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC   139241 . PMID   12477932.
• Guermah M, Ge K, Chiang CM, Roeder RG (2003). "The TBN protein, which is essential for early embryonic mouse development, is an inducible TAFII implicated in adipogenesis". Mol. Cell. 12 (4): 991–1001. doi: 10.1016/S1097-2765(03)00396-4 . PMID   14580349.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi: 10.1038/ng1285 . PMID   14702039.
• Soutoglou E, Demény MA, Scheer E, et al. (2005). "The Nuclear Import of TAF10 Is Regulated by One of Its Three Histone Fold Domain-Containing Interaction Partners". Mol. Cell. Biol. 25 (10): 4092–104. doi:10.1128/MCB.25.10.4092-4104.2005. PMC   1087738 . PMID   15870280.