2. Gene
  3. GTF2H1 - general transcription factor IIH subunit 1 Gene

GTF2H1 - general transcription factor IIH subunit 1 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as P62; BTF2; TFB1; TFIIH

Gene ID: 2965 | Gene type: protein coding

About GTF2H1

Cytogenetic location: 11p15.1 Genomic coordinates (GRCh38): 11:18,322,567-18,367,045 (from NCBI)

This gene has 16 transcripts (splice variants), 1 gene allele and 219 orthologues. Ubiquitous expression in testis (RPKM 18.1), thyroid (RPKM 12.6) and 25 other tissues.

Summary

Enables Thyroid Hormone Receptor binding activity. Involved in positive regulation of transcription, DNA-templated and transcription by RNA polymerase II. Located in nucleoplasm. Part of transcription factor TFIIH core complex and transcription factor TFIIH holo complex. [provided by Alliance of Genome Resources, Apr 2022]

GTF2H1 Products(2)

mRNA Protein Name
NM_001142307.2 NP_001135779.1 general transcription factor IIH subunit 1
NM_005316.4 NP_005307.1 general transcription factor IIH subunit 1
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables nuclear thyroid hormone receptor binding IPI
IPI: Inferred from physical interaction
15625236 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
8652557 GOA
Biological Process GO Annotation Evidence Reference Source
involved in positive regulation of DNA-templated transcription IDA
IDA: Inferred from direct assay
15625236 GOA
involved in transcription by RNA polymerase II IDA
IDA: Inferred from direct assay
9852112 GOA
involved in transcription initiation at RNA polymerase II promoter IDA
IDA: Inferred from direct assay
8692841 GOA
Cellular Component GO Annotation Evidence Reference Source
part of transcription factor TFIIH core complex IDA
IDA: Inferred from direct assay
8692841 GOA
part of transcription factor TFIIH holo complex IDA
IDA: Inferred from direct assay
9852112 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

GTF2H1 Protein Structure

PH_TFIIH

PH_TFIIH: TFIIH p62 subunit, N-terminal domain (10 - 81)

BSD

BSD: BSD domain (104 - 148)

BSD

BSD: BSD domain (179 - 235)

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  • 548 a.a.
Protein Preferred Names Protein Names

general transcription factor IIH subunit 1

BTF2 p62

GTF2H1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
GTF2H1 P32780 AGTRAP Homo sapiens Q6RW13-2
Y2H Prey Pooling
32296183
Intra
GTF2H1 P32780 AGTRAP Homo sapiens Q6RW13-2
Y2H Array
32296183
Intra
GTF2H1 P32780 AGTRAP Homo sapiens Q6RW13-2
Validated Y2H
32296183
Intra
GTF2H1 P32780 GTF2H2 Homo sapiens Q13888
Anti Tag CoIP
33961781
Intra
GTF2H1 P32780 XPC Homo sapiens Q01831-1
NMR
26278177
Intra
GTF2H1 P32780 XPC Homo sapiens Q01831-1
ITC
26278177
Intra
GTF2H1 P32780 TP53 Homo sapiens P04637
Pull Down
18354501
Intra
GTF2H1 P32780 GTF2E1 Homo sapiens P29083
Y2H Array
32296183
Intra
GTF2H1 P32780 GTF2E1 Homo sapiens P29083
NMR
18354501
Intra
GTF2H1 P32780 GTF2E1 Homo sapiens P29083
Pull Down
18354501
Intra
GTF2H1 P32780 GTF2E1 Homo sapiens P29083
Y2H Prey Pooling
32296183
Intra
GTF2H1 P32780 FHL2 Homo sapiens Q14192
Validated Y2H
32296183
Intra
GTF2H1 P32780 EAF1 Homo sapiens Q96JC9
Validated Y2H
32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

GTF2H1 Antibodies

Cat. No. Product Name Application Reactivity
HY-P81322 GTF2H1 Antibody (YA1067) WB, ICC/IF, IP Human

Related Diseases

Diseases Alias
Rift Valley Fever

Rfv - [Rift Valley Fever]
Phlebotomus Fever

Pappataci Fever

Sandfly Fever

Sandfly-Borne Phleboviral Disease

Sandfly-Borne Arboviral Fever

Sandfly-Borne Bunyavirus Fever

Three Day Fever

Chitral Fever

Italy Summer Grippe

Italy Summer Grippe Influenza
Trichothiodystrophy

Ttd

Amish Brittle Hair Syndrome

Bids Syndrome

Brittle Hair-Intellectual Impairment-Decreased Fertility-Short Stature Syndrome

Ibids

Pibids

Trichothiodystrophy Syndromes
Cockayne Syndrome

Cockayne'S Syndrome

Dwarfism-Retinal Atrophy-Deafness Syndrome

Neill-Dingwall Syndrome

Progeria-Like Syndrome

Progeroid Nanism

Cs
Hermansky-Pudlak Syndrome 5

HPS5

Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial

Delta Storage Pool Disease

Hermansky-Pudlak Syndrome, Type 5

Platelet Storage Pool Deficiency

Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells
Cerebrooculofacioskeletal Syndrome 1

Cofs Syndrome

COFS1

Pena-Shokeir Syndrome Type 2

Cofs

Pena-Shokeir Syndrome, Type Ii

Cerebrooculofacioskeletal Syndrome

Cerebro-Oculo-Facio-Skeletal Syndrome 1

Pena Shokeir Syndrome Type 2
Xeroderma Pigmentosum, Complementation Group G

Xeroderma Pigmentosum, Group G

Xeroderma Pigmentosum Vii

Xp7

XPG

Xeroderma Pigmentosum Group G

Xp Group G

Xp, Group G

Xpgc

Xeroderma Pigmentosum, Group G/Cockayne Syndrome

Xeroderma Pigmentosum, Type 7

Xeroderma Pigmentosum Complementation Group G

XP-G

Xp-G/Cs

Xeroderma Pigmentosum Group G/Cockayne Syndrome
Xeroderma Pigmentosum, Variant Type

Xeroderma Pigmentosum

XPV

Xeroderma Pigmentosum Variant Type

Xeroderma Pigmentosum With Normal Dna Repair Rates

Photosensitivity With Defective Dna Synthesis

Xp

De Sanctis-Cacchione Syndrome

Desanctis-Cacchione Syndrome

Xeroderma Pigmentosa

Xerodermic Idiocy

Xeroderma Pigmentosum Variant

Xp - [Xeroderma Pigmentosum]

Atrophoderma Pigmentosum
Xeroderma Pigmentosum, Complementation Group C

Xeroderma Pigmentosum, Group C

XPC

Xpcc

Xeroderma Pigmentosum Iii

Xp3

Xeroderma Pigmentosum Group C

Xp Group C

Xp, Group C

Xeroderma Pigmentosum, Type 3

Xeroderma Pigmentosum Complementation Group C

XP-C
Uv-Sensitive Syndrome

Uvss

Uv Sensitive Syndrome

Ultraviolet Sensitive Syndrome
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS05898 GTF2H1 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Felis catus GTF2H1 VGNC VGNC:67498
Bos taurus GTF2H1 VGNC VGNC:29695
Canis familiaris GTF2H1 VGNC VGNC:41547
Macaca mulatta GTF2H1 VGNC VGNC:73311
Mus musculus GTF2H1 MGD MGI:1277216
Rattus norvegicus GTF2H1 RGD RGD:1308225