GTF2H1 - general transcription factor IIH subunit 1 Gene

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

GTF2H1 Protein Structure

PH_TFIIH

BSD

0
100
200
300
400
500
548 a.a.

Protein Preferred Names

Protein Names

general transcription factor IIH subunit 1

BTF2 p62

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		/	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

Name
Email *

	Sorry, but the email address you supplied was invalid.