TAF1D TATA-box binding protein associated factor, RNA polymerase I subunit D [Homo sapiens (human)] - Gene

Summary

Official Symbol: TAF1Dprovided by HGNC
Official Full Name: TATA-box binding protein associated factor, RNA polymerase I subunit Dprovided by HGNC
Primary source: HGNC:HGNC:28759
See related: Ensembl:ENSG00000166012 MIM:612823; AllianceGenome:HGNC:28759
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: JOSD3; RAFI41; TAFI41; TAF(I)41
Summary: TAF1D is a member of the SL1 complex, which includes TBP (MIM 600075) and TAF1A (MIM 604903), TAF1B (MIM 604904), and TAF1C (MIM 604905), and plays a role in RNA polymerase I transcription (Wang et al., 2004 [PubMed 15520167]; Gorski et al., 2007 [PubMed 17318177]).[supplied by OMIM, Jun 2009]
Expression: Ubiquitous expression in lymph node (RPKM 25.5), appendix (RPKM 22.4) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11q21

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (93730194..93741495, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (93646573..93657877, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (93463360..93474661, complement)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

TAF1D promotes proliferation by transcriptionally activating G2/M phase-related genes in MYCN-amplified neuroblastoma.
Title: TAF1D promotes proliferation by transcriptionally activating G2/M phase-related genes in MYCN-amplified neuroblastoma.
An antigrowth activity and modulations of cell cycle events are identified in cells expressing siRNAMGC5306.
Title: A novel nuclear protein, MGC5306 interacts with DNA polymerase beta and has a potential role in cellular phenotype.
TAF(I)41 (MGC5306) is integral to transcriptionally active SL1 and plays a role in Pol I recruitment and, therefore, preinitiation complex formation in vivo.
Title: A novel TBP-associated factor of SL1 functions in RNA polymerase I transcription.

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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

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

RH35 (e-PCR)
- UniSTS:83775

D11S4684 (e-PCR)
- UniSTS:45126

D11S4346 (e-PCR)
- UniSTS:79240

SHGC-132183 (e-PCR)
- UniSTS:170698

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in regulation of DNA-templated transcription	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of RNA polymerase transcription factor SL1 complex	IEA Inferred from Electronic Annotation more info
located_in centriolar satellite	IDA Inferred from Direct Assay more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in mitotic spindle	IDA Inferred from Direct Assay more info
located_in nucleolus	IDA Inferred from Direct Assay more info
is_active_in nucleoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info

General protein information

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Preferred Names: TATA box-binding protein-associated factor RNA polymerase I subunit D

Names: Josephin domain containing 3; RNA polymerase I-specific TBP-associated factor 41 kDa; TATA box binding protein (TBP)-associated factor, RNA polymerase I, D, 41kDa; TATA box-binding protein-associated factor 1D; TATA-box binding protein associated factor, RNA polymerase I, D; TBP-associated factor 1D; transcription initiation factor SL1/TIF-IB subunit D

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_024116.4 → NP_077021.1 TATA box-binding protein-associated factor RNA polymerase I subunit D

See identical proteins and their annotated locations for NP_077021.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the shortest transcript and encodes the functional protein.

Source sequence(s)

AP001273, BC001972, BQ774057

Consensus CDS

CCDS8293.1

UniProtKB/Swiss-Prot

Q6I9Y6, Q9H5J8

Related

ENSP00000410409.2, ENST00000448108.7

Conserved Domains (1) summary

pfam15333
Location:31 → 244

TAF1D; TATA box-binding protein-associated factor 1D

RNA

NR_146090.2 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate 3' exon structure, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AA449756, AP001273, BC001972
NR_146091.2 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (3) uses an alternate 3' exon structure, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AP001273