TAF1

Protein identityUniProt · HPA

UniProt accession

P21675

Gene

TAF1

Ensembl

ENSG00000147133

Chromosome

X

Canonical length

1893 aa

Protein class

Cancer-related genes, Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted intracellular proteins, Transcription factors

Subcellular location

Nucleoplasm

OverviewNCBI Gene

Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is the basal transcription factor TFIID, which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes the largest subunit of TFIID. This subunit binds to core promoter sequences encompassing the transcription start site. It also binds to activators and other transcriptional regulators, and these interactions affect the rate of transcription initiation. This subunit contains two independent protein kinase domains at the N- and C-terminals, but also possesses acetyltransferase activity and can act as a ubiquitin-activating/conjugating enzyme. Mutations in this gene result in Dystonia 3, torsion, X-linked, a dystonia-parkinsonism disorder. Alternative splicing of this gene results in multiple transcript variants. This gene is part of a complex transcription unit (TAF1/DYT3), wherein some transcript variants share exons with TAF1 as well as additional downstream DYT3 exons. [provided by RefSeq, Oct 2013]

Canonical amino-acid sequenceUniProt

1893 residues, UniProt reviewed canonical sequence.

>P21675|TAF1
     1  MGPGCDLLLR TAATITAAAI MSDTDSDEDS AGGGPFSLAG FLFGNINGAG QLEGESVLDD
    61  ECKKHLAGLG ALGLGSLITE LTANEELTGT DGALVNDEGW VRSTEDAVDY SDINEVAEDE
   121  SRRYQQTMGS LQPLCHSDYD EDDYDADCED IDCKLMPPPP PPPGPMKKDK DQDSITGVSE
   181  NGEGIILPSI IAPSSLASEK VDFSSSSDSE SEMGPQEATQ AESEDGKLTL PLAGIMQHDA
   241  TKLLPSVTEL FPEFRPGKVL RFLRLFGPGK NVPSVWRSAR RKRKKKHREL IQEEQIQEVE
   301  CSVESEVSQK SLWNYDYAPP PPPEQCLSDD EITMMAPVES KFSQSTGDID KVTDTKPRVA
   361  EWRYGPARLW YDMLGVPEDG SGFDYGFKLR KTEHEPVIKS RMIEEFRKLE ENNGTDLLAD
   421  ENFLMVTQLH WEDDIIWDGE DVKHKGTKPQ RASLAGWLPS SMTRNAMAYN VQQGFAATLD
   481  DDKPWYSIFP IDNEDLVYGR WEDNIIWDAQ AMPRLLEPPV LTLDPNDENL ILEIPDEKEE
   541  ATSNSPSKES KKESSLKKSR ILLGKTGVIK EEPQQNMSQP EVKDPWNLSN DEYYYPKQQG
   601  LRGTFGGNII QHSIPAVELR QPFFPTHMGP IKLRQFHRPP LKKYSFGALS QPGPHSVQPL
   661  LKHIKKKAKM REQERQASGG GEMFFMRTPQ DLTGKDGDLI LAEYSEENGP LMMQVGMATK
   721  IKNYYKRKPG KDPGAPDCKY GETVYCHTSP FLGSLHPGQL LQAFENNLFR APIYLHKMPE
   781  TDFLIIRTRQ GYYIRELVDI FVVGQQCPLF EVPGPNSKRA NTHIRDFLQV FIYRLFWKSK
   841  DRPRRIRMED IKKAFPSHSE SSIRKRLKLC ADFKRTGMDS NWWVLKSDFR LPTEEEIRAM
   901  VSPEQCCAYY SMIAAEQRLK DAGYGEKSFF APEEENEEDF QMKIDDEVRT APWNTTRAFI
   961  AAMKGKCLLE VTGVADPTGC GEGFSYVKIP NKPTQQKDDK EPQPVKKTVT GTDADLRRLS
  1021  LKNAKQLLRK FGVPEEEIKK LSRWEVIDVV RTMSTEQARS GEGPMSKFAR GSRFSVAEHQ
  1081  ERYKEECQRI FDLQNKVLSS TEVLSTDTDS SSAEDSDFEE MGKNIENMLQ NKKTSSQLSR
  1141  EREEQERKEL QRMLLAAGSA ASGNNHRDDD TASVTSLNSS ATGRCLKIYR TFRDEEGKEY
  1201  VRCETVRKPA VIDAYVRIRT TKDEEFIRKF ALFDEQHREE MRKERRRIQE QLRRLKRNQE
  1261  KEKLKGPPEK KPKKMKERPD LKLKCGACGA IGHMRTNKFC PLYYQTNAPP SNPVAMTEEQ
  1321  EEELEKTVIH NDNEELIKVE GTKIVLGKQL IESADEVRRK SLVLKFPKQQ LPPKKKRRVG
  1381  TTVHCDYLNR PHKSIHRRRT DPMVTLSSIL ESIINDMRDL PNTYPFHTPV NAKVVKDYYK
  1441  IITRPMDLQT LRENVRKRLY PSREEFREHL ELIVKNSATY NGPKHSLTQI SQSMLDLCDE
  1501  KLKEKEDKLA RLEKAINPLL DDDDQVAFSF ILDNIVTQKM MAVPDSWPFH HPVNKKFVPD
  1561  YYKVIVNPMD LETIRKNISK HKYQSRESFL DDVNLILANS VKYNGPESQY TKTAQEIVNV
  1621  CYQTLTEYDE HLTQLEKDIC TAKEAALEEA ELESLDPMTP GPYTPQPPDL YDTNTSLSMS
  1681  RDASVFQDES NMSVLDIPSA TPEKQVTQEG EDGDGDLADE EEGTVQQPQA SVLYEDLLMS
  1741  EGEDDEEDAG SDEEGDNPFS AIQLSESGSD SDVGSGGIRP KQPRMLQENT RMDMENEESM
  1801  MSYEGDGGEA SHGLEDSNIS YGSYEEPDPK SNTQDTSFSS IGGYEVSEEE EDEEEEEQRS
  1861  GPSVLSQVHL SEDEEDSEDF HSIAGDSDLD SDE

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TAF1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.49

Highest tissue expression

19 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TAF1.

Disease | AllUniProt

Conditions TAF1 is implicated in, by any mechanism.

• Dystonia 3, torsion, X-linked (DYT3) MIM:314250
• Intellectual developmental disorder, X-linked, syndromic 33 (MRXS33) MIM:300966

Disease | GeneticClinVar

39 pathogenic / likely-pathogenic of 973 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Intellectual disability, X-linked, syndromic 33
• Abnormal heart morphology
• Intellectual disability
• Thyroid cancer, nonmedullary, 1
• Inborn genetic diseases

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.04

gnomAD pLI

1

gnomAD missense Z

5.49

DepMap mean gene effect

-0.78

DepMap dependency class

common

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• cellular response to ATP
• cellular response to UV
• DNA damage response
• midbrain development
• mRNA transcription by RNA polymerase II
• negative regulation of gene expression
• negative regulation of protein autoubiquitination
• negative regulation of signal transduction by p53 class mediator
• negative regulation of transcription by RNA polymerase II
• negative regulation of ubiquitin-dependent protein catabolic process
• positive regulation of proteasomal ubiquitin-dependent protein catabolic process
• positive regulation of transcription by RNA polymerase II
• positive regulation of transcription initiation by RNA polymerase II
• protein autophosphorylation
• protein polyubiquitination
• protein stabilization
• regulation of cell cycle G1/S phase transition
• regulation of signal transduction by p53 class mediator
• RNA polymerase II preinitiation complex assembly
• transcription by RNA polymerase II
• transcription initiation at RNA polymerase I promoter
• transcription initiation at RNA polymerase II promoter
• ubiquitin-dependent protein catabolic process
• positive regulation of androgen receptor signaling pathway

Molecular functions

• ATP binding
• histone acetyltransferase activity
• histone H4K16ac reader activity
• kinase activity
• nuclear receptor binding
• p53 binding
• protein heterodimerization activity
• protein kinase activity
• protein serine kinase activity
• protein serine/threonine kinase activity
• RNA polymerase I general transcription initiation factor activity
• RNA polymerase II core promoter sequence-specific DNA binding
• RNA polymerase II general transcription initiation factor activity
• RNA polymerase II general transcription initiation factor binding
• RNA polymerase II-specific DNA-binding transcription factor binding
• sequence-specific DNA binding
• TBP-class protein binding
• transcription regulator inhibitor activity
• ubiquitin conjugating enzyme activity

Cellular components

• chromatin
• MLL1 complex
• nucleoplasm
• nucleus
• transcription factor TFIID complex
• transcription regulator complex

Protein domainsUniProt · Pfam · InterPro

• Bromodomain
• TAFII-230 TBP-binding
• Transcription initiation factor TFIID subunit 1, animal
• Bromodomain, conserved site
• Transcription initiation factor TFIID subunit 1, histone acetyltransferase domain
• Bromodomain-like superfamily
• TAFII-230 TBP-binding domain superfamily
• Transcription initiation factor TFIID subunit 1
• Zinc knuckle
• Bromodomain
• TATA box-binding protein binding
• Protein of unknown function (DUF3591)
• Zinc knuckle

KeywordsUniProt

• Acetylation
• Acyltransferase
• Alternative initiation
• ATP-binding
• Bromodomain
• Cell cycle
• DNA-binding
• Dystonia
• Host-virus interaction
• Intellectual disability
• Isopeptide bond
• Kinase
• Nucleotide-binding
• Nucleus
• Parkinsonism
• Phosphoprotein
• Repeat
• Serine/threonine-protein kinase
• Transcription
• Transcription regulation
• Transferase
• Ubl conjugation

InteractionsUniProt · HPA

Protein binding partners of TAF1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• ASF1A
• ASF1B
• TAF7
• TAF7L
• TAF8
• GTF2F1
• TAF4
• TAF9B
• TBP