TAF5L TATA-box binding protein associated factor 5 like [Homo sapiens (human)] - Gene

Summary

Official Symbol: TAF5Lprovided by HGNC
Official Full Name: TATA-box binding protein associated factor 5 likeprovided by HGNC
Primary source: HGNC:HGNC:17304
See related: Ensembl:ENSG00000135801 AllianceGenome:HGNC:17304
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: PAF65B
Summary: The product of this gene belongs to the WD-repeat TAF5 family of proteins. This gene encodes a protein that is a component of the PCAF histone acetylase complex. The PCAF histone acetylase complex, which is composed of more than 20 polypeptides some of which are TAFs, is required for myogenic transcription and differentiation. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors to facilitate complex assembly and transcription initiation. The encoded protein is structurally similar to one of the histone-like TAFs, TAF5. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in bone marrow (RPKM 3.7), fat (RPKM 3.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1q42.13

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (229593134..229626122, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (228972074..229005072, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (229728881..229761869, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Observational study of gene-disease association. (HuGE Navigator)
Title: The TAF5L gene on chromosome 1q42 is associated with type 1 diabetes in Russian affected patients.
latent cytoplasmic coactivator TORC2 mediates target gene activation in response to cAMP signaling by associating with CBP/p300 and increasing its recruitment to a subset of CREB target genes
Title: Cooperative interactions between CBP and TORC2 confer selectivity to CREB target gene expression.
The TAF5L gene on chromosome 1q42 is associated tie type 1 diabetes in Russian patients.
Title: The TAF5L gene on chromosome 1q42 is associated with type 1 diabetes in Russian affected patients.
p300 can acetylate DNA-bound Myc:Max complexes and that acetylated Myc:Max heterodimers efficiently interact with Miz-1
Title: Six lysine residues on c-Myc are direct substrates for acetylation by p300.
p300 or PCAF maintains myoblast viability as effectively as added growth factors through mechanisms requiring the acetyltransferase activity of PCAF but not of p300.
Title: Muscle cell survival mediated by the transcriptional coactivators p300 and PCAF displays different requirements for acetyltransferase activity.
PCAF is a histone acetyltransferase which regulates gene transcription. PCAF interacts physically and functionally with PTEN. PTEN acetylation by PCAF block the ability of PTEN to downregulate PI3-K signalling and to induce G1 cell cycle arrest.
Title: PCAF modulates PTEN activity.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide and gene-centric analyses of circulating myeloperoxidase levels in the charge and care consortia. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH121164 (e-PCR)
- UniSTS:134159

G13251 (e-PCR)
- UniSTS:41655

SHGC-83350 (e-PCR)
- UniSTS:101049

RH103367 (e-PCR)
- UniSTS:88535

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transcription coactivator activity	IBA Inferred from Biological aspect of Ancestor more info
enables transcription coactivator activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in positive regulation of DNA-templated transcription	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of DNA repair	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of DNA-templated transcription	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of DNA-templated transcription	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of DNA-templated transcription	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of RNA splicing	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of somatic stem cell population maintenance	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in transcription by RNA polymerase II	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
part_of SAGA complex	IBA Inferred from Biological aspect of Ancestor more info
part_of SAGA complex	IDA Inferred from Direct Assay more info	PubMed
part_of SAGA complex	NAS Non-traceable Author Statement more info	PubMed
located_in cytoplasmic ribonucleoprotein granule	IDA Inferred from Direct Assay more info
located_in nuclear speck	IDA Inferred from Direct Assay more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
NOT part_of transcription factor TFIID complex	IBA Inferred from Biological aspect of Ancestor more info
part_of transcription factor TFTC complex	IBA Inferred from Biological aspect of Ancestor more info
part_of transcription factor TFTC complex	IDA Inferred from Direct Assay more info	PubMed
part_of transcription factor TFTC complex	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: TAF5-like RNA polymerase II p300/CBP-associated factor-associated factor 65 kDa subunit 5L

Names: PAF65-beta; PCAF-associated factor 65 beta; TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001025247.2 → NP_001020418.1 TAF5-like RNA polymerase II p300/CBP-associated factor-associated factor 65 kDa subunit 5L isoform b

See identical proteins and their annotated locations for NP_001020418.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and the 5' coding region, compared to variant 1. The resulting isoform (b) contains a distinct N-terminus, compared to isoform a.

Source sequence(s)

AF069736, AI251746, AL121990, BC041094

Consensus CDS

CCDS31051.1

UniProtKB/Swiss-Prot

O75529

Related

ENSP00000355635.3, ENST00000366675.3

Conserved Domains (2) summary

cd08044
Location:67 → 201

TAF5_NTD2; TAF5_NTD2 is the second conserved N-terminal region of TATA Binding Protein (TBP) Associated Factor 5 (TAF5), involved in forming Transcription Factor IID (TFIID)

sd00039
Location:272 → 304

7WD40; WD40 repeat [structural motif]
NM_014409.4 → NP_055224.1 TAF5-like RNA polymerase II p300/CBP-associated factor-associated factor 65 kDa subunit 5L isoform a

See identical proteins and their annotated locations for NP_055224.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the shorter transcript, but encodes the longer isoform (a).

Source sequence(s)

AF069736, AI251746, AJ009770, AL121990, BC041094

Consensus CDS

CCDS1581.1

UniProtKB/Swiss-Prot

O75529, Q5TDI5, Q5TDI6, Q8IW31

Related

ENSP00000258281.2, ENST00000258281.7

Conserved Domains (3) summary

cd08044
Location:67 → 201

TAF5_NTD2; TAF5_NTD2 is the second conserved N-terminal region of TATA Binding Protein (TBP) Associated Factor 5 (TAF5), involved in forming Transcription Factor IID (TFIID)

cd00200
Location:276 → 581

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

sd00039
Location:273 → 340

7WD40; WD40 repeat [structural motif]

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

229593134..229626122 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005273099.5 → XP_005273156.1 TAF5-like RNA polymerase II p300/CBP-associated factor-associated factor 65 kDa subunit 5L isoform X1

See identical proteins and their annotated locations for XP_005273156.1

UniProtKB/Swiss-Prot

O75529, Q5TDI5, Q5TDI6, Q8IW31

Conserved Domains (3) summary

cd08044
Location:67 → 201

TAF5_NTD2; TAF5_NTD2 is the second conserved N-terminal region of TATA Binding Protein (TBP) Associated Factor 5 (TAF5), involved in forming Transcription Factor IID (TFIID)

cd00200
Location:276 → 581

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

sd00039
Location:273 → 340

7WD40; WD40 repeat [structural motif]
XM_047417997.1 → XP_047273953.1 TAF5-like RNA polymerase II p300/CBP-associated factor-associated factor 65 kDa subunit 5L isoform X3
XM_011544162.2 → XP_011542464.1 TAF5-like RNA polymerase II p300/CBP-associated factor-associated factor 65 kDa subunit 5L isoform X2

Conserved Domains (4) summary

cd08044
Location:13 → 130

TAF5_NTD2; TAF5_NTD2 is the second conserved N-terminal region of TATA Binding Protein (TBP) Associated Factor 5 (TAF5), involved in forming Transcription Factor IID (TFIID)

COG2319
Location:183 → 485

WD40; WD40 repeat [General function prediction only]

cd00200
Location:205 → 510

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

sd00039
Location:202 → 269

7WD40; WD40 repeat [structural motif]
XM_047417996.1 → XP_047273952.1 TAF5-like RNA polymerase II p300/CBP-associated factor-associated factor 65 kDa subunit 5L isoform X3
XM_011544164.3 → XP_011542466.1 TAF5-like RNA polymerase II p300/CBP-associated factor-associated factor 65 kDa subunit 5L isoform X3

See identical proteins and their annotated locations for XP_011542466.1

Conserved Domains (3) summary

cd08044
Location:2 → 109

TAF5_NTD2; TAF5_NTD2 is the second conserved N-terminal region of TATA Binding Protein (TBP) Associated Factor 5 (TAF5), involved in forming Transcription Factor IID (TFIID)

cd00200
Location:184 → 489

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

sd00039
Location:181 → 248

7WD40; WD40 repeat [structural motif]

Alternate T2T-CHM13v2.0

Genomic

NC_060925.1 Alternate T2T-CHM13v2.0

Range

228972074..229005072 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054336005.1 → XP_054191980.1 TAF5-like RNA polymerase II p300/CBP-associated factor-associated factor 65 kDa subunit 5L isoform X1

UniProtKB/Swiss-Prot

O75529, Q5TDI5, Q5TDI6, Q8IW31
XM_054336008.1 → XP_054191983.1 TAF5-like RNA polymerase II p300/CBP-associated factor-associated factor 65 kDa subunit 5L isoform X3
XM_054336006.1 → XP_054191981.1 TAF5-like RNA polymerase II p300/CBP-associated factor-associated factor 65 kDa subunit 5L isoform X2
XM_054336007.1 → XP_054191982.1 TAF5-like RNA polymerase II p300/CBP-associated factor-associated factor 65 kDa subunit 5L isoform X3
XM_054336009.1 → XP_054191984.1 TAF5-like RNA polymerase II p300/CBP-associated factor-associated factor 65 kDa subunit 5L isoform X3