TAF8
entrez
129685
canonical
uniprot
Q7Z7C8
canonical
ensembl
ENSG00000137413
resolver
ensp
ENSP00000362068
resolver
ensp
ENSP00000362069
resolver
ensp
ENSP00000362073
resolver
ensp
ENSP00000411900
resolver
ensp
ENSP00000510369
resolver
ensp
ENSP00000510786
resolver
ensp
ENSP00000647369
resolver
enst
ENST00000686229
resolver
enst
ENST00000687601
resolver
genesymbol
TAF8
resolver
genesymbol_syn
TAFII43
resolver
genesymbol_syn
TBN
resolver
hgnc
HGNC:17300
resolver
uniprot
A0A8I5KXI2
resolver
uniprot
A0A8I5QL44
resolver
uniprot
Q5T0K1
resolver
uniprot
Q8N4R9
resolver
uniprot
Q96M52
resolver
uniprot_entry
A0A8I5KXI2_HUMAN
resolver
uniprot_entry
A0A8I5QL44_HUMAN
resolver
uniprot_entry
TAF8_HUMAN
resolver
uniprot_sec
Q5T0K1
resolver
uniprot_sec
Q8N4R9
resolver
uniprot_sec
Q96M52
resolver
amino_acid_sequence
MADAAATAGAGGSGTRSGSKQSTNPADNYHLARRRTLQVVVSSLLTEAGFESAEKASVETLTEMLQSYISEIGRSAKSYCEHTARTQPTLSDIVVTLVEMGFNVDTLPAYAKRSQRMVITAPPVTNQPVTPKALTAGQNRPHPPHIPSHFPEFPDPHTYIKTPTYREPVSDYQVLREKAASQRRDVERALTRFMAKTGETQSLFKDDVSTFPLIAARPFTIPYLTALLPSELEMQQMEETDSSEQDEQTDTENLALHISMEDSGAEKENTSVLQQNPSLSGSRNGEENIIDNPYLRPVKKPKIRRKKSLS
uniprot
proteins
disease_involvement
DISEASE: Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy (NEDMLHB) [MIM:619972]: An autosomal recessive disorder with onset soon after birth or in early infancy. Affected individuals do not show developmental progress, are unable to sit or walk, do not acquire speech, have poor visual fixation, and show poor overall growth associated with feeding problems. Additional variable features include seizures, spasticity, and joint contractures. Brain imaging shows hypomyelination, thin corpus callosum, and cerebral and cerebellar atrophy. {ECO:0000269|PubMed:29648665, ECO:0000269|PubMed:35759269}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: The TFIID basal transcription factor complex plays a major role in the initiation of RNA polymerase II (Pol II)-dependent transcription (PubMed:33795473). TFIID recognizes and binds promoters with or without a TATA box via its subunit TBP, a TATA-box-binding protein, and promotes assembly of the pre-initiation complex (PIC) (PubMed:33795473). The TFIID complex consists of TBP and TBP-associated factors (TAFs), including TAF1, TAF2, TAF3, TAF4, TAF5, TAF6, TAF7, TAF8, TAF9, TAF10, TAF11, TAF12 and TAF13 (PubMed:33795473). The TFIID complex structure can be divided into 3 modules TFIID-A, TFIID-B, and TFIID-C (PubMed:33795473). TAF8 is involved in forming the TFIID-B module, together with TAF5 (PubMed:33795473). Mediates both basal and activator-dependent transcription (PubMed:14580349). Plays a role in the differentiation of preadipocyte fibroblasts to adipocytes, however, does not seem to play a role in differentiation of myoblasts (PubMed:14580349). Required for the integration of TAF10 in the TAF complex (PubMed:14580349). May be important for survival of cells of the inner cell mass which constitute the pluripotent cell population of the early embryo (By similarity). {ECO:0000250|UniProtKB:Q9EQH4, ECO:0000269|PubMed:14580349, ECO:0000269|PubMed:33795473}.
uniprot
proteins
mass_dalton
34262
uniprot
proteins
protein_family
TAF8 family
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
14580349
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15870280
uniprot
proteins
pubmed
17375202
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
29648665
uniprot
proteins
pubmed
33795473
uniprot
proteins
pubmed
35759269
uniprot
proteins
sequence_length
310
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:14580349, ECO:0000269|PubMed:35759269}. Cytoplasm {ECO:0000269|PubMed:35759269}. Note=Predominantly nuclear. {ECO:0000269|PubMed:35759269}.
uniprot
proteins