Seroatlas · Human Serome Atlas

GTF2H1

General transcription factor IIH subunit 1

Also known as: BTF2, P62, TF2H1_HUMAN, TFIIH

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

Protein identityUniProt · HPA

UniProt accession
P32780
Gene
GTF2H1
Ensembl
ENSG00000110768
Chromosome
11
Canonical length
548 aa
Protein class
Cancer-related genes, Predicted intracellular proteins
Subcellular location
Nucleoplasm

OverviewNCBI Gene

Enables nuclear thyroid hormone receptor binding activity. Involved in positive regulation of DNA-templated transcription and transcription initiation at RNA polymerase II promoter. Located in nucleoplasm. Part of transcription factor TFIIH core complex and transcription factor TFIIH holo complex. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

548 residues, UniProt reviewed canonical sequence.

>P32780|GTF2H1
     1  MATSSEEVLL IVKKVRQKKQ DGALYLMAER IAWAPEGKDR FTISHMYADI KCQKISPEGK
    61  AKIQLQLVLH AGDTTNFHFS NESTAVKERD AVKDLLQQLL PKFKRKANKE LEEKNRMLQE
   121  DPVLFQLYKD LVVSQVISAE EFWANRLNVN ATDSSSTSNH KQDVGISAAF LADVRPQTDG
   181  CNGLRYNLTS DIIESIFRTY PAVKMKYAEN VPHNMTEKEF WTRFFQSHYF HRDRLNTGSK
   241  DLFAECAKID EKGLKTMVSL GVKNPLLDLT ALEDKPLDEG YGISSVPSAS NSKSIKENSN
   301  AAIIKRFNHH SAMVLAAGLR KQEAQNEQTS EPSNMDGNSG DADCFQPAVK RAKLQESIEY
   361  EDLGKNNSVK TIALNLKKSD RYYHGPTPIQ SLQYATSQDI INSFQSIRQE MEAYTPKLTQ
   421  VLSSSAASST ITALSPGGAL MQGGTQQAIN QMVPNDIQSE LKHLYVAVGE LLRHFWSCFP
   481  VNTPFLEEKV VKMKSNLERF QVTKLCPFQE KIRRQYLSTN LVSHIEEMLQ TAYNKLHTWQ
   541  SRRLMKKT

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against GTF2H1 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
25 nTPM

Expression across tissuesHPA

Tissue

  • testis: 25 nTPM
  • cerebellum: 20 nTPM
  • blood vessel: 20 nTPM
  • skin: 19 nTPM
  • esophagus: 19 nTPM
  • ovary: 18 nTPM

Single-cell type

  • choroid plexus epithelial cells: 90 nCPM
  • podocytes: 53 nCPM
  • brain inhibitory neurons: 51 nCPM
  • oligodendrocytes: 49 nCPM
  • microglia: 47 nCPM
  • brain excitatory neurons: 47 nCPM

Immune cell

  • basophil: 11 nTPM
  • NK-cell: 7.6 nTPM
  • non-classical monocyte: 6 nTPM
  • naive CD4 T-cell: 5.8 nTPM
  • naive B-cell: 5.7 nTPM
  • eosinophil: 5.4 nTPM

Brain region

  • choroid plexus: 22 nTPM
  • cerebellum: 16 nTPM
  • white matter: 16 nTPM
  • cerebral cortex: 14 nTPM
  • thalamus: 13 nTPM
  • basal ganglia: 13 nTPM

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)
0.29
gnomAD pLI
0.99
gnomAD missense Z
1.8
DepMap mean gene effect
-0.76
DepMap dependency class
common

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of GTF2H1 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 GTF2H1 as an antibody target. Whether an autoantibody or antibody against GTF2H1 could matter depends on whether native GTF2H1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

GTF2H1 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 GTF2H1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/GTF2H1. 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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