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

Gene ID: 54457, updated on 5-Mar-2024

Summary

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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

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See TAF7L in Genome Data Viewer
Location:
Xq22.1
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (101268257..101293083, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (99712369..99751819, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (100523245..100548071, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene YWHAQ pseudogene 8 Neighboring gene dystrophin related protein 2 Neighboring gene RNA, U6 small nuclear 934, pseudogene Neighboring gene NANOGNB pseudogene 3

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: 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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Related articles in PubMed

  1. Deleterious variants in TAF7L cause human oligoasthenoteratozoospermia and its impairing histone to protamine exchange inducing reduced in vitro fertilization. Bai H, et al. Front Endocrinol (Lausanne), 2022. PMID 36714566, Free PMC Article
  2. The association of testis-specific hTAF7L gene variants with idiopathic azoospermic and severe oligozoospermic male infertility. Ambulkar PS, et al. Andrologia, 2022 Dec. PMID 36068176
  3. An X-linked agammaglobulinemia contiguous gene syndrome with metachronous coprimary testicular cancers. Shaker M, et al. Ann Allergy Asthma Immunol, 2018 Feb. PMID 29307603
  4. Frameshift mutations of TAF7L gene, a core component for transcription by RNA polymerase II, in colorectal cancers. Oh HR, et al. Pathol Oncol Res, 2015 Jul. PMID 25098277
  5. Mutation analysis of the X-chromosome linked, testis-specific TAF7L gene in spermatogenic failure. Akinloye O, et al. Andrologia, 2007 Oct. PMID 17714218

See all (24) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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†.
  4. these findings support a putative role of TAF7L in tumor suppression
    Title: An X-linked agammaglobulinemia contiguous gene syndrome with metachronous coprimary testicular cancers.
  5. Over-expression of TAF7L was observed in breast tumor cell lines.
    Title: Cancer/Testis OIP5 and TAF7L Genes are Up-Regulated in Breast Cancer.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ23157

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

  1. NG_016220.2 RefSeqGene

    Range
    6749..29826
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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

  2. 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

  3. 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_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    101268257..101293083 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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

  2. 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

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    99712369..99751819 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054327264.1 → XP_054183239.1  transcription initiation factor TFIID subunit 7-like isoform X4

  2. XM_054327263.1 → XP_054183238.1  transcription initiation factor TFIID subunit 7-like isoform X3

  3. XM_054327265.1 → XP_054183240.1  transcription initiation factor TFIID subunit 7-like isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q5H9L4.1 GenPept UniProtKB/Swiss-Prot:Q5H9L4

Gene LinkOut

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