Details for: TAF7L

Gene ID: 54457

Gene Type:  Protein-coding  - A gene that serves as a template for producing a messenger RNA (mRNA) molecule, which is then translated into a functional protein.

Symbol: TAF7L

Ensembl ID: ENSG00000102387

Description: TATA-box binding protein associated factor 7 like

Cell Significance Landscape

Associated with

Significant Cells

Cell Significance Index (CSI) scores for the chosen context(s)

  • neural progenitor cell CL0011020
    CSI 1.53
    rCSI 6.74%
    PRS 98.64
  • GABAergic neuron CL0000617
    CSI 1.52
    rCSI 5.09%
    PRS 99.22

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.
Network Configuration

Explore relationships of the current gene. Select an Interaction Source: 'ONTOLOGY' for shared pathways (GO/Reactome) or 'STRING' for protein-protein interactions. Further refine by selecting context genes and comparing Cell Significance Index (CSI) scores between baseline and target cell types and their specific contexts.

Comma-separated if multiple.
Comma-separated if multiple.
Legend:
  • Query Gene
  • Node Color (Target Cell CSI, relative to current network):
    • Very High
    • High
    • Medium
    • Low
    • Very Low
    • CSI N/A
  • Node Size: Proportional to Target Cell CSI magnitude
  • STRING PPI Edge
  • Shared Pathway Edge (ONTOLOGY)

Loading network (please wait)...

Other Information

This section provides additional information about the gene, including a description generated by an AI language model and details about associated proteins.

## Summary Analyzed for its expression specificity (CSI Z-Score), [TAF7L](/details-gene/54457) is a protein-coding gene on the X chromosome that functions as a subunit of the TATA-box binding protein associated factor (TAF) family within the general transcription factor TFIID complex. While literature strongly supports a crucial, testis-specific role in spermatogenesis, the provided `**Overall**` expression data indicates high, but non-specific, expression in neural cell types. Its established involvement in transcription initiation and documented association with male infertility ([OMIM:300314](https://omim.org/entry/300314)) highlights its importance in developmental processes. ## Cellular Roles and Expression Landscape The expression profile of [TAF7L](/details-gene/54457), when evaluated for cellular specificity, presents a complex picture. In the `**Overall**` context, the gene does not emerge as a statistically significant specific marker for any cell type. This is demonstrated by a CSI (Z-SCORE) of 0.00 and high p-values (p > 0.6) for its top-expressing cells, [neural progenitor cell](/details-cell/CL0011020) and [GABAergic neuron](/details-cell/CL0000617). A Z-score of zero indicates that its expression level is at the mean, suggesting a lack of unique enrichment. However, a maximal Effect Size of 1.00 and high Percentile Rank Scores (PRS > 98%) in these neural cells suggest that [TAF7L](/details-gene/54457) is abundantly expressed, even if not uniquely. This may point to a basal or housekeeping transcriptional function in these cells. This finding contrasts with substantial evidence from targeted studies that describe [TAF7L](/details-gene/54457) as a testis-specific gene crucial for male germ cell development (PubMed: [16597641](https://doi.org/10.1093/molehr/gal020), [11279525](https://doi.org/10.1038/86927)). The discrepancy suggests that the `**Overall**` dataset may lack sufficient representation of testicular cell types, where the gene's specificity would likely be highly significant. Mutations in [TAF7L](/details-gene/54457) have been directly linked to spermatogenic failure and oligozoospermia in humans, reinforcing its specialized role in this lineage (PubMed: [17714218](https://doi.org/10.1111/j.1439-0272.2007.00789.x), [35554494](https://doi.org/10.1093/biolre/ioac093)). ## Pathways and Molecular Function The molecular functions of [TAF7L](/details-gene/54457) are consistent with its role as a core component of the transcriptional machinery. As a subunit of the [transcription factor TFIID complex](/details-go/GO:0005669), it is integral to [RNA polymerase II general transcription initiation factor activity](/details-go/GO:0016251) and [RNA polymerase II preinitiation complex assembly](/details-go/GO:0051123). This is further supported by its deep involvement in numerous Reactome pathways related to [gene expression](/details-reactome/R-HSA-74160), particularly [RNA polymerase II transcription initiation](/details-reactome/R-HSA-75953). This general function in transcription likely explains its detectable expression in diverse cell types like neurons. However, its specific annotation for [spermatogenesis](/details-go/GO:0007283) highlights a specialized, non-redundant function in this process. Interestingly, [TAF7L](/details-gene/54457) is also implicated in pathways of [viral infection](/details-reactome/R-HSA-9824446), such as the [HIV life cycle](/details-reactome/R-HSA-162587), where it may be co-opted by viruses to facilitate transcription of the viral genome. Its role in the [regulation of TP53 activity](/details-reactome/R-HSA-5633007) further suggests a potential link to cell cycle control and stress responses. ## Research Directions The primary research challenge is to reconcile the broad, non-specific expression observed in the `**Overall**` dataset with the well-documented testis-specific function of [TAF7L](/details-gene/54457). This discrepancy is a fertile ground for new investigations. **Testable Hypotheses:** 1. **Hypothesis:** [TAF7L](/details-gene/54457) possesses a previously unappreciated, non-redundant function in neural development or homeostasis. The high expression in [neural progenitor cell](/details-cell/CL0011020)s and [GABAergic neuron](/details-cell/CL0000617)s may be functionally significant despite the lack of statistical specificity in a broad context. * **Experimental Approach:** Utilize CRISPRi to selectively knock down [TAF7L](/details-gene/54457) in human iPSC-derived neural progenitor cell and GABAergic neuron cultures. Subsequent single-cell RNA sequencing and functional assays (e.g., neurite outgrowth, electrophysiology) could reveal defects in differentiation or cellular function. 2. **Hypothesis:** The specificity of [TAF7L](/details-gene/54457) function is determined by its interaction with cell-type-specific cofactors. In testicular cells, it partners with germline-specific factors to drive spermatogenesis, while in neural cells, it engages with different partners to support basal transcription. * **Experimental Approach:** Perform comparative co-immunoprecipitation followed by mass spectrometry (Co-IP/MS) using TAF7L as bait in lysates from human testicular tissue and primary neural cultures. Identifying differential binding partners would provide direct evidence for context-specific functional modules. 3. **Hypothesis:** The involvement of [TAF7L](/details-gene/54457) in HIV-related pathways suggests it may be a host dependency factor for other viruses that replicate in the testis or nervous system. * **Experimental Approach:** Conduct a CRISPR-based genetic screen in a relevant cell line (e.g., a Sertoli cell line or a neuroblastoma line) to identify host factors required for infection by viruses known to target these tissues (e.g., Zika virus, which has known testicular and neural tropism). Validation would involve targeted knockdown of [TAF7L](/details-gene/54457) and measuring its effect on viral replication. **Therapeutic Potential:** Given its critical role in spermatogenesis and its association with male infertility, [TAF7L](/details-gene/54457) is a strong candidate as a diagnostic biomarker. Screening for mutations in this gene could be integrated into clinical workflows for idiopathic male infertility. Therapeutically, while direct gene therapy is a distant prospect, understanding its specific function could inform strategies to modulate downstream pathways in assisted reproductive technologies for men with specific [TAF7L](/details-gene/54457) variants.

Genular Protein ID: 2658364341

Symbol: TAF7L_HUMAN

Name: Transcription initiation factor TFIID subunit 7-like

UniProtKB Accession Codes:

Q5H9L4 Q5H9L6 Q86XI4 Q9BXU5 Q9H5R0

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 3 CDD 1 CTD 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 7 Ensembl 3 ExpressionAtlas 1 GO 5 GeneCards 1 GeneTree 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 2 KEGG 1 MANE-Select 1 MIM 1 MINT 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 3 Pumba 1 RNAct 1 Reactome 9 RefSeq 2 SMART 1 SMR 1 STRING 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 11279525

Title: An abundance of X-linked genes expressed in spermatogonia.

PubMed ID: 11279525

DOI: 10.1038/86927

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15772651

Title: The DNA sequence of the human X chromosome.

PubMed ID: 15772651

DOI: 10.1038/nature03440

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 16597641

Title: The role of the testis-specific gene hTAF7L in the aetiology of male infertility.

PubMed ID: 16597641

DOI: 10.1093/molehr/gal020

PubMed ID: 17714218

Title: Mutation analysis of the X-chromosome linked, testis-specific TAF7L gene in spermatogenic failure.

PubMed ID: 17714218

DOI: 10.1111/j.1439-0272.2007.00789.x

PubMed ID: 35554494

Title: Genetic characterization of a missense mutation in the X-linked TAF7L gene identified in an oligozoospermic man.

PubMed ID: 35554494

DOI: 10.1093/biolre/ioac093

Sequence Information:

  • Length: 462
  • Mass: 52588
  • Checksum: 92BB59377D35A62F
  • Sequence:
    • MECPEGQLPI SSENDSTPTV STSEVTSQQE PQILVDRGSE TTYESSADIA GDEGTQIPAD 
EDTQTDADSS AQAAAQAPEN FQEGKDMSES QDEVPDEVEN QFILRLPLEH ACTVRNLARS 
QSVKMKDKLK IDLLPDGRHA VVEVEDVPLA AKLVDLPCVI ESLRTLDKKT FYKTADISQM 
LVCTADGDIH LSPEEPAAST DPNIVRKKER GREEKCVWKH GITPPLKNVR KKRFRKTQKK 
VPDVKEMEKS SFTEYIESPD VENEVKRLLR SDAEAVSTRW EVIAEDGTKE IESQGSIPGF 
LISSGMSSHK QGHTSSEYDM LREMFSDSRS NNDDDEDEDD EDEDEDEDED EDEDKEEEEE 
DCSEEYLERQ LQAEFIESGQ YRANEGTSSI VMEIQKQIEK KEKKLHKIQN KAQRQKDLIM 
KVENLTLKNH FQSVLEQLEL QEKQKNEKLI SLQEQLQRFL KK