Seroatlas · Human Serome Atlas

GTF2H5

General transcription factor IIH subunit 5

Also known as: bA120J8.2, C6orf175, FLJ30544, TF2H5_HUMAN, TFB5, TFIIH, TTD, TTD-A, TTDA

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q6ZYL4
Gene
GTF2H5
Ensembl
ENSG00000272047
Chromosome
6
Canonical length
71 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins

OverviewNCBI Gene

This gene encodes a subunit of transcription/repair factor TFIIH, which functions in gene transcription and DNA repair. This protein stimulates ERCC3/XPB ATPase activity to trigger DNA opening during DNA repair, and is implicated in regulating cellular levels of TFIIH. Mutations in this gene result in trichothiodystrophy, complementation group A. [provided by RefSeq, Mar 2009]

Canonical amino-acid sequenceUniProt

71 residues, UniProt reviewed canonical sequence.

>Q6ZYL4|GTF2H5
     1  MVNVLKGVLI ECDPAMKQFL LYLDESNALG KKFIIQDIDD THVFVIAELV NVLQERVGEL
    61  MDQNAFSLTQ K

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against GTF2H5 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.42
Highest tissue expression
55 nTPM

Expression across tissuesHPA

Tissue

  • liver: 55 nTPM
  • adrenal gland: 52 nTPM
  • skeletal muscle: 52 nTPM
  • epididymis: 47 nTPM
  • heart muscle: 44 nTPM
  • adipose tissue: 43 nTPM

Single-cell type

  • late primary spermatocytes: 495 nCPM
  • esophageal apical cells: 475 nCPM
  • parietal cells: 398 nCPM
  • esophageal suprabasal cells: 392 nCPM
  • early spermatids: 356 nCPM
  • megakaryocytes: 284 nCPM

Immune cell

  • plasmacytoid DC: 76 nTPM
  • T-reg: 57 nTPM
  • NK-cell: 55 nTPM
  • memory B-cell: 54 nTPM
  • non-classical monocyte: 53 nTPM
  • myeloid DC: 53 nTPM

Brain region

  • white matter: 46 nTPM
  • basal ganglia: 42 nTPM
  • hypothalamus: 41 nTPM
  • spinal cord: 39 nTPM
  • medulla oblongata: 39 nTPM
  • cerebral cortex: 38 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about GTF2H5.

Disease | AllUniProt

Conditions GTF2H5 is implicated in, by any mechanism.

  • Trichothiodystrophy 3, photosensitive (TTD3) MIM:616395

Disease | GeneticClinVar

10 pathogenic / likely-pathogenic of 75 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Trichothiodystrophy 3, photosensitive

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
1.71
gnomAD pLI
0.05
gnomAD missense Z
-0.12
DepMap mean gene effect
-0.2
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Cellular components

Protein domainsUniProt · Pfam · InterPro

  • TFIIH subunit TTDA/Tfb5
  • TFB5-like superfamily
  • Transcription factor TFIIH complex subunit Tfb5

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of GTF2H5 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads GTF2H5 as an antibody target. Whether an autoantibody or antibody against GTF2H5 could matter depends on whether native GTF2H5 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

GTF2H5 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label GTF2H5 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/GTF2H5. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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