GTF2H5 - general transcription factor IIH subunit 5 Gene

Also Known as TTD; TFB5; TTD3; TTDA; TFIIH; TTD-A; TGF2H5; C6orf175; bA120J8.2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 404672

About GTF2H5

Cytogenetic location: 6q25.3 Genomic coordinates (GRCh38): 6:158,168,350-158,199,344 (from NCBI)

This gene has 7 transcripts (splice variants), 216 orthologues and is associated with 3 phenotypes. Ubiquitous expression in brain (RPKM 4.4), fat (RPKM 3.8) and 25 other tissues.

Summary

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]

GTF2H5 Products (1)

mRNA	Protein	Name
NM_207118.3	NP_997001.1	general transcription factor IIH subunit 5

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Verweise	Source
enables protein binding	IPI IPI: Inferred from physical interaction	16669699	GOA

Biological Process GO Annotation	Evidence	Verweise	Source
acts upstream of or within nucleotide-excision repair	IMP IMP: Inferred from mutant phenotype	23637614	GOA

Cellular Component GO Annotation	Evidence	Verweise	Source
located in nucleolus	IDA IDA: Inferred from direct assay	23562818	GOA
part of transcription factor TFIID complex	IDA IDA: Inferred from direct assay	27193682	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

GTF2H5 Protein Structure

Tfb5

0
71 a.a.

Protein Preferred Names	Protein Names
general transcription factor IIH subunit 5	TFB5 ortholog

GTF2H5 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	GTF2H5	Q6ZYL4	ERCC3	Homo sapiens	P19447	Anti Tag CoIP	16669699
Intra	GTF2H5	Q6ZYL4	ERCC3	Homo sapiens	P19447	Anti Tag CoIP	19172752
Intra	GTF2H5	Q6ZYL4	ERCC3	Homo sapiens	P19447	Anti Tag CoIP	26496610
Intra	GTF2H5	Q6ZYL4	GTF2H2	Homo sapiens	Q13888	Anti Tag CoIP	28514442
Intra	GTF2H5	Q6ZYL4	GTF2H2	Homo sapiens	Q13888	Anti Bait CoIP	16669699
Intra	GTF2H5	Q6ZYL4	GTF2H2	Homo sapiens	Q13888	Anti Tag CoIP	19172752
Intra	GTF2H5	Q6ZYL4	GTF2H2	Homo sapiens	Q13888	Anti Tag CoIP	26496610
Intra	GTF2H5	Q6ZYL4	GTF2H2	Homo sapiens	Q13888	Anti Tag CoIP	33961781
Intra	GTF2H5	Q6ZYL4	ANKRD29	Homo sapiens	Q8N6D5	Y2H Prey Pooling	32296183
Intra	GTF2H5	Q6ZYL4	ANKRD29	Homo sapiens	Q8N6D5	Validated Y2H	32296183
Intra	GTF2H5	Q6ZYL4	ANKRD29	Homo sapiens	Q8N6D5	Y2H Array	32296183
Intra	GTF2H5	Q6ZYL4	GSC2	Homo sapiens	O15499	Y2H Prey Pooling	32296183
Intra	GTF2H5	Q6ZYL4	GSC2	Homo sapiens	O15499	Y2H Array	32296183
Intra	GTF2H5	Q6ZYL4	NGRN	Homo sapiens	Q9NPE2	Y2H Prey Pooling	32296183
Intra	GTF2H5	Q6ZYL4	NGRN	Homo sapiens	Q9NPE2	Validated Y2H	32296183
Intra	GTF2H5	Q6ZYL4	NGRN	Homo sapiens	Q9NPE2	Y2H Array	32296183
Intra	GTF2H5	Q6ZYL4	GTF2H4	Homo sapiens	Q92759	Anti Tag CoIP	19172752
Intra	GTF2H5	Q6ZYL4	GTF2H4	Homo sapiens	Q92759	Anti Tag CoIP	26496610
Intra	GTF2H5	Q6ZYL4	GTF2H4	Homo sapiens	Q92759	Anti Tag CoIP	33961781
Intra	GTF2H5	Q6ZYL4	GTF2H4	Homo sapiens	Q92759	Y2H Prey Pooling	32296183
Intra	GTF2H5	Q6ZYL4	GTF2H4	Homo sapiens	Q92759	Validated Y2H	32296183
Intra	GTF2H5	Q6ZYL4	GTF2H4	Homo sapiens	Q92759	Anti Tag CoIP	28514442
Intra	GTF2H5	Q6ZYL4	GTF2H4	Homo sapiens	Q92759	Y2H Array	32296183
Intra	GTF2H5	Q6ZYL4	GTF2H4	Homo sapiens	Q92759	Anti Bait CoIP	19172752
Intra	GTF2H5	Q6ZYL4	INCA1	Homo sapiens	Q0VD86	Y2H Prey Pooling	32296183
Intra	GTF2H5	Q6ZYL4	INCA1	Homo sapiens	Q0VD86	Y2H Array	32296183
Intra	GTF2H5	Q6ZYL4	AGR2	Homo sapiens	O95994	Y2H Array	32296183
Intra	GTF2H5	Q6ZYL4	AGR2	Homo sapiens	O95994	Y2H Prey Pooling	32296183
Intra	GTF2H5	Q6ZYL4	DDIT4L	Homo sapiens	Q96D03	Validated Y2H	32296183
Intra	GTF2H5	Q6ZYL4	DDIT4L	Homo sapiens	Q96D03	Y2H Prey Pooling	32296183
Intra	GTF2H5	Q6ZYL4	DDIT4L	Homo sapiens	Q96D03	Y2H Array	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Trichothiodystrophy 3, Photosensitive	TTD3 Trichothiodystrophy, Complementation Group A Ttda Photosensitive Trichothiodystrophy 3 Trichothiodystrophy Complementation Group A
Trichothiodystrophy	Ttd Amish Brittle Hair Syndrome Bids Syndrome Brittle Hair-Intellectual Impairment-Decreased Fertility-Short Stature Syndrome Ibids Pibids Trichothiodystrophy Syndromes
Trichothiodystrophy 1, Photosensitive	TTD1 Tay Syndrome Trichothiodystrophy With Congenital Ichthyosis Photosensitive Trichothiodystrophy Ibids Syndrome Ttdp Ichthyosiform Erythroderma With Hair Abnormality And Mental And Growth Retardation Ichthyosis, Congenital, With Trichothiodystrophy Pibids Syndrome Photosensitive Trichothiodystrophy 1 Trichothiodystrophy, Photosensitive Sulfur-Deficient Brittle Hair Syndrome Ttd-P Ichthyosis With Brittle Hair, Intellectual Impairment, Decreased Fertility And Short Stature Trichothiodystrophy Photosensitive Trichothiodystrophy, Type 1 Tricho-Thiodystrophy Disorder Trichothiodystrophy Syndromes Amish Brittle Hair Brain Syndrome
Rectosigmoid Junction Neoplasm	Neoplasm Of Rectosigmoid Junction Rectosigmoid Neoplasm Rectosigmoid Tumor Rectosigmoid Carcinoma Carcinoma Of The Rectosigmoid Junction Malignant Tumor Of Rectosigmoid Junction Rectosigmoid Junction Cancer Primary Malignant Neoplasm Of Rectosigmoid Junction Rectosigmoid Colon Cancer Carcinoma Of Rectum With Sigmoid Colorectal Cancer Nos Colorectal Carcinoma Nos Rectosigmoid Cancer
Sigmoid Neoplasm	Sigmoid Neoplasms Neoplasm Of Sigmoid Colon Tumor Of Sigmoid Colon
Xeroderma Pigmentosum, Complementation Group B	Xeroderma Pigmentosum Group B Xeroderma Pigmentosum, Group B XPB Xpbc Xp Group B Xp, Group B Xeroderma Pigmentosum Complementation Group B XP-B Xeroderma Pigmentosum Group B With Cockayne Syndrome Xeroderma Pigmentosum Ii Xp2 Xp-B/Cs
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
Ichthyosis	Ichthyoses Non-Syndromic Ichthyosis Congenital Ichthyosis
Cerebrooculofacioskeletal Syndrome	Cerebro-Oculo-Facio-Skeletal Syndrome Cofs Syndrome Pena-Shokeir Syndrome Type 2 Pena Shokeir Syndrome Type 2
Uv-Sensitive Syndrome	Uvss Uv Sensitive Syndrome Ultraviolet Sensitive Syndrome
Xeroderma Pigmentosum, Complementation Group D	Xeroderma Pigmentosum, Group D Xpdc Xeroderma Pigmentosum Iv XPD Xeroderma Pigmentosum Group D Xeroderma Pigmentosum Viii Xp Group D Xp Group H Xp4 Xp8 Xph Xp, Group D Xp4 Xeroderma Pigmentosum Viii, Formerly Xp8, Formerly Xp, Group H, Formerly Xph, Formerly Xeroderma Pigmentosum Complementation Group D XP-D Xp-D/Cs
Chromosome 6q24-Q25 Deletion Syndrome	Chromosome 6q25-Q25 Deletion Syndrome 6q25 Microdeletion Syndrome Monosomy 6q25 Del(6)(Q25)
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 Group E	Xeroderma Pigmentosum, Group E Xeroderma Pigmentosum V Xp Group E Xp5 Xpe Xeroderma Pigmentosum, Complementation Group E
De Sanctis-Cacchione Syndrome	Xerodermic Idiocy Xeroderma Pigmentosum With Neurologic Manifestation DSC Xerodermic Idiocy Of De Sanctis And Cacchione
Cockayne Syndrome A	Cockayne Syndrome Type 1 Cockayne Syndrome, Type A Cockayne Syndrome Type I CSA Cockayne Syndrome Classic Form Cockayne Syndrome Classical Cockayne Syndrome Type A Ckn1
Fanconi Anemia, Complementation Group A	Fanconi Anemia Fanconi Pancytopenia Fanconi Anemia Complementation Group A FANCA Fa Fanconi Panmyelopathy Fanconi'S Anemia Fanconi Anaemia Fanconi'S Anaemia Fanconi Hypoplastic Anemia Estren-Dameshek Variant Of Fanconi Anemia Estren-Dameshek Variant Of Fanconi Pancytopenia Fanconi Anemia Estren-Dameshek Variant Fanconis Anemia
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder

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

Pre-clinical Phase

Bioactive Molecules (1)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS05902	GTF2H5 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	GTF2H5	RGD	RGD:1560991
Canis familiaris	GTF2H5	VGNC	VGNC:41549
Mus musculus	GTF2H5	MGD	MGI:107227
Bos taurus	GTF2H5	VGNC	VGNC:29698
Felis catus	GTF2H5	VGNC	VGNC:102435
Macaca mulatta	GTF2H5	VGNC	VGNC:73211
Others	GTF2H5	NCBI