TAF7L TATA-box binding protein associated factor 7 like [Homo sapiens (human)] - Gene

Summary

Official Symbol: TAF7Lprovided by HGNC
Official Full Name: TATA-box binding protein associated factor 7 likeprovided by HGNC
Primary source: HGNC:HGNC:11548
See related: Ensembl:ENSG00000102387 MIM:300314; AllianceGenome:HGNC:11548
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: CT40; TAF2Q
Summary: This gene is similar to a mouse gene that encodes a TATA box binding protein-associated factor, and shows testis-specific expression. The encoded protein could be a spermatogenesis-specific component of the DNA-binding general transcription factor complex TFIID. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]
Expression: Restricted expression toward testis (RPKM 16.4) See more
Orthologs: mouse all
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Genomic context

Location:: Xq22.1

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (101268257..101293083, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (99712369..99751819, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (100523245..100548071, complement)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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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?

Deleterious variants in TAF7L cause human oligoasthenoteratozoospermia and its impairing histone to protamine exchange inducing reduced in vitro fertilization.
Title: Deleterious variants in TAF7L cause human oligoasthenoteratozoospermia and its impairing histone to protamine exchange inducing reduced in vitro fertilization.
The association of testis-specific hTAF7L gene variants with idiopathic azoospermic and severe oligozoospermic male infertility.
Title: The association of testis-specific hTAF7L gene variants with idiopathic azoospermic and severe oligozoospermic male infertility.
Identification of a missense mutation (D136G) in the X-linked TAF7L gene as a potential cause of oligozoospermia in men.
Title: Genetic characterization of a missense mutation in the X-linked TAF7L gene identified in an oligozoospermic man†.
these findings support a putative role of TAF7L in tumor suppression
Title: An X-linked agammaglobulinemia contiguous gene syndrome with metachronous coprimary testicular cancers.
Over-expression of TAF7L was observed in breast tumor cell lines.
Title: Cancer/Testis OIP5 and TAF7L Genes are Up-Regulated in Breast Cancer.
Frameshift mutations of TAF7L gene is associated with stomach and colorectal cancers.
Title: Frameshift mutations of TAF7L gene, a core component for transcription by RNA polymerase II, in colorectal cancers.
expression of AURKC, OIP5, PIWIL2 and TAF7L differed between patients with Acute myeloid leukemia, myelodysplastic syndrome and healthy controls in a gender-dependent manner
Title: Expression analysis of four testis-specific genes AURKC, OIP5, PIWIL2 and TAF7L in acute myeloid leukemia: a gender-dependent expression pattern.
The sequence variant in exon 13 of the TAF7L gene located on the X chromosome may represent a risk factor for spermatogenic failure.
Title: Mutation analysis of the X-chromosome linked, testis-specific TAF7L gene in spermatogenic failure.
TAF7L gene polymorphisms were found in male infertility patients and normal controls.
Title: The role of the testis-specific gene hTAF7L in the aetiology of male infertility.

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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

D20S151 (e-PCR)
- UniSTS:19226

G65769 (e-PCR)
- UniSTS:225914

RH92089 (e-PCR)
- UniSTS:88702

DXS9715 (e-PCR)
- UniSTS:41962

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
contributes_to RNA polymerase II general transcription initiation factor activity	IBA Inferred from Biological aspect of Ancestor more info
enables molecular_function	ND No biological Data available more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in RNA polymerase II preinitiation complex assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in biological_process	ND No biological Data available more info
involved_in cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in spermatogenesis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
part_of transcription factor TFIID complex	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: transcription initiation factor TFIID subunit 7-like

Names: RNA polymerase II TBP-associated factor subunit Q; TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa; TATA box-binding protein-associated factor 50 kDa; TBP-associated factor, RNA polymerase II, Q; cancer/testis antigen 40; transcription initiation factor TFIID 50 kDa subunit

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.

Genomic

NG_016220.2 RefSeqGene

Range

6749..29826

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001168474.2 → NP_001161946.1 transcription initiation factor TFIID subunit 7-like isoform 2

See identical proteins and their annotated locations for NP_001161946.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus, compared to isoform 1.

Source sequence(s)

AF285595, BC043391

Consensus CDS

CCDS55466.1

UniProtKB/Swiss-Prot

Q5H9L4

Related

ENSP00000349235.1, ENST00000356784.2

Conserved Domains (1) summary

pfam04658
Location:12 → 190

TAFII55_N; TAFII55 protein conserved region
NM_001410720.1 → NP_001397649.1 transcription initiation factor TFIID subunit 7-like isoform 3

Status: REVIEWED

Source sequence(s)

AL109801, Z68331

Consensus CDS

CCDS94640.1

Related

ENSP00000320283.6, ENST00000324762.10
NM_024885.4 → NP_079161.3 transcription initiation factor TFIID subunit 7-like isoform 1

See identical proteins and their annotated locations for NP_079161.3

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AL109801, BC043391, DB455298

Consensus CDS

CCDS35347.1

UniProtKB/Swiss-Prot

Q5H9L4, Q5H9L6, Q86XI4, Q9BXU5, Q9H5R0

Related

ENSP00000361998.3, ENST00000372907.7

Conserved Domains (1) summary

pfam04658
Location:98 → 276

TAFII55_N; TAFII55 protein conserved region

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_000023.11 Reference GRCh38.p14 Primary Assembly

Range

101268257..101293083 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006724664.2 → XP_006724727.1 transcription initiation factor TFIID subunit 7-like isoform X1

Conserved Domains (1) summary

pfam04658
Location:98 → 276

TAFII55_N; TAFII55 protein conserved region
XM_005262152.2 → XP_005262209.1 transcription initiation factor TFIID subunit 7-like isoform X2

See identical proteins and their annotated locations for XP_005262209.1

Conserved Domains (1) summary

pfam04658
Location:12 → 190

TAFII55_N; TAFII55 protein conserved region

Alternate T2T-CHM13v2.0

Genomic

NC_060947.1 Alternate T2T-CHM13v2.0

Range

99712369..99751819 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054327264.1 → XP_054183239.1 transcription initiation factor TFIID subunit 7-like isoform X4
XM_054327263.1 → XP_054183238.1 transcription initiation factor TFIID subunit 7-like isoform X3
XM_054327265.1 → XP_054183240.1 transcription initiation factor TFIID subunit 7-like isoform X2