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TAF8
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; GeneCards: TAF8
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	4WV6, 5FUR
Gene location (Human)
Chr.	Chromosome 6 (human)
End	42,087,461 bp
Gene location (Mouse)
Chr.	Chromosome 17 (mouse)
End	47,813,217 bp
RNA expression pattern
	Top expressed in
	buccal mucosa cell; ; apex of heart; ; oocyte; ; monocyte; ; bone marrow cell; ; left ventricle; ; gastrocnemius muscle; ; muscle of thigh; ; tendon of biceps brachii; ; appendix;
	Top expressed in
	granulocyte; ; secondary oocyte; ; thymus; ; zygote; ; yolk sac; ; neural layer of retina; ; ventricular zone; ; primary oocyte; ; tail of embryo; ; muscle of thigh;
	More reference expression data
	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
Databases	NCBI: entry; OMA: entry
	129685
	63856
	ENSG00000137413
	ENSMUSG00000023980
	Q7Z7C8
	Q9EQH4
	NM_138572
	NM_022015; NM_001356290
	NP_612639
	NP_071298; NP_001343219
	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

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000137413 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000023980 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ ^a ^b "Entrez Gene: TBN taube nuss homolog (mouse)".
^ 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.

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.

This article on a gene on human chromosome 6 is a stub. You can help Wikipedia by adding missing information.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000137413 – Ensembl, May 2017

[refGRCm38Ensembl-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.

[entrez-5] "Entrez Gene: TBN taube nuss homolog (mouse)".

[pmid35759269-6] 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.

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TAF8

Clinical significance

References

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