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

    Gene ID: 54457, updated on 10-Dec-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_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_000023.11Genomic 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: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. 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
    2. 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
    3. The role of the testis-specific gene hTAF7L in the aetiology of male infertility. Stouffs K, et al. Mol Hum Reprod, 2006 Apr. PMID 16597641
    4. Mutation analysis of the X-chromosome linked, testis-specific TAF7L gene in spermatogenic failure. Akinloye O, et al. Andrologia, 2007 Oct. PMID 17714218
    5. An X-linked agammaglobulinemia contiguous gene syndrome with metachronous coprimary testicular cancers. Shaker M, et al. Ann Allergy Asthma Immunol, 2018 Feb. PMID 29307603

    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)

    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 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 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_2024_08

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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