ERCC3 - ERCC excision repair 3, TFIIH core complex helicase subunit Gene

Also Known as XPB; BTF2; Ssl2; TTD2; GTF2H; RAD25; TFIIH

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 2071

About ERCC3

Cytogenetic location: 2q14.3 Genomic coordinates (GRCh38): 2:127,257,290-127,294,144 (from NCBI)

This gene has 21 transcripts (splice variants), 208 orthologues and is associated with 85 phenotypes. Ubiquitous expression in testis (RPKM 20.2), lymph node (RPKM 14.6) and 25 other tissues.

Summary

This gene encodes an ATP-dependent DNA helicase that functions in nucleotide excision repair. The encoded protein is a subunit of basal transcription factor 2 (TFIIH) and, therefore, also functions in class II transcription. Mutations in this gene are associated with Xeroderma pigmentosum B, Cockayne's syndrome, and trichothiodystrophy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]

ERCC3 Products (3)

mRNA	Protein	Name
NM_000122.2	NP_000113.1	general transcription and DNA repair factor IIH helicase subunit XPB isoform a
NM_001303416.2	NP_001290345.1	general transcription and DNA repair factor IIH helicase subunit XPB isoform b
NM_001303418.2	NP_001290347.1	general transcription and DNA repair factor IIH helicase subunit XPB isoform b

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables 3'-5' DNA helicase activity	IDA IDA: Inferred from direct assay	17466626	GOA
enables 3'-5' DNA helicase activity	IMP IMP: Inferred from mutant phenotype	8663148	GOA
enables ATP hydrolysis activity	IDA IDA: Inferred from direct assay	17466626	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	7663514	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in DNA repair	IMP IMP: Inferred from mutant phenotype	2167179	GOA
involved in DNA topological change	IMP IMP: Inferred from mutant phenotype	8663148	GOA
involved in apoptotic process	IMP IMP: Inferred from mutant phenotype	8675009	GOA
involved in hair cell differentiation	IMP IMP: Inferred from mutant phenotype	11335038	GOA
involved in nucleotide-excision repair	IMP IMP: Inferred from mutant phenotype	8692841	GOA
involved in nucleotide-excision repair, DNA duplex unwinding	IMP IMP: Inferred from mutant phenotype	17466626	GOA
involved in positive regulation of apoptotic process	IDA IDA: Inferred from direct assay	16914395	GOA
involved in protein localization	IMP IMP: Inferred from mutant phenotype	17509950	GOA
involved in regulation of mitotic cell cycle phase transition	IMP IMP: Inferred from mutant phenotype	17088560	GOA
involved in response to UV	IMP IMP: Inferred from mutant phenotype	17509950	GOA
involved in response to oxidative stress	IMP IMP: Inferred from mutant phenotype	17614221	GOA
involved in transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	9852112	GOA
involved in transcription by RNA polymerase II	IMP IMP: Inferred from mutant phenotype	8663148	GOA
involved in transcription initiation at RNA polymerase II promoter	IDA IDA: Inferred from direct assay	8692841	GOA
involved in transcription-coupled nucleotide-excision repair	IDA IDA: Inferred from direct assay	8663148	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of transcription factor TFIID complex	IDA IDA: Inferred from direct assay	27193682	GOA
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

ERCC3 Protein Structure

Helicase_C_3

ResIII

Helicase_C

0
200
400
600
782 a.a.

Protein Preferred Names	Protein Names
general transcription and DNA repair factor IIH helicase subunit XPB	BTF2 p89

ERCC3 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	ERCC3	P19447	ADAMTSL4	Homo sapiens	Q6UY14-3	Y2H Prey Pooling	32296183
Intra	ERCC3	P19447	ADAMTSL4	Homo sapiens	Q6UY14-3	Validated Y2H	32296183
Intra	ERCC3	P19447	ADAMTSL4	Homo sapiens	Q6UY14-3	Y2H Array	32296183
Intra	ERCC3	P19447	FXR1	Homo sapiens	P51114-2	Y2H Array	32296183
Intra	ERCC3	P19447	FXR1	Homo sapiens	P51114-2	Y2H Prey Pooling	32296183
Intra	ERCC3	P19447	FXR1	Homo sapiens	P51114-2	Validated Y2H	32296183
Intra	ERCC3	P19447	ROPN1	Homo sapiens	Q9HAT0	Validated Y2H	32296183
Intra	ERCC3	P19447	ROPN1	Homo sapiens	Q9HAT0	Y2H Array	32296183
Intra	ERCC3	P19447	ROPN1	Homo sapiens	Q9HAT0	Y2H Prey Pooling	32296183
Intra	ERCC3	P19447	BLZF1	Homo sapiens	Q9H2G9	Y2H Prey Pooling	32296183
Intra	ERCC3	P19447	BLZF1	Homo sapiens	Q9H2G9	Validated Y2H	32296183
Intra	ERCC3	P19447	BLZF1	Homo sapiens	Q9H2G9	Y2H Array	32296183
Intra	ERCC3	P19447	TRIM14	Homo sapiens	Q14142	Y2H Array	32296183
Intra	ERCC3	P19447	TRIM14	Homo sapiens	Q14142	Validated Y2H	32296183
Intra	ERCC3	P19447	TRIM14	Homo sapiens	Q14142	Y2H Prey Pooling	32296183
Cross	ERCC3	P19447	Psmc5	Mus musculus	P62196	Pull Down	9173976
Cross	ERCC3	P19447	Psmc5	Mus musculus	P62196	Y2H	9173976
Cross	ERCC3	P19447	Psmc5	Mus musculus	P62196	Anti Bait CoIP	9173976
Intra	ERCC3	P19447	PSMC5	Homo sapiens	P62195	Anti Bait CoIP	9173976
Intra	ERCC3	P19447	PSMC5	Homo sapiens	P62195	Anti Tag CoIP	9173976
Intra	ERCC3	P19447	KPNA3	Homo sapiens	O00505	Y2H Array	32296183
Intra	ERCC3	P19447	KPNA3	Homo sapiens	O00505	Y2H Prey Pooling	32296183
Intra	ERCC3	P19447	XIAP	Homo sapiens	P98170	Y2H Prey Pooling	25416956
Intra	ERCC3	P19447	XIAP	Homo sapiens	P98170	Y2H Array	31515488
Intra	ERCC3	P19447	SNW1	Homo sapiens	Q13573	Y2H Prey Pooling	32296183
Intra	ERCC3	P19447	SNW1	Homo sapiens	Q13573	Validated Y2H	32296183
Intra	ERCC3	P19447	SNW1	Homo sapiens	Q13573	Y2H Array	32296183
Intra	ERCC3	P19447	GTF2H5	Homo sapiens	Q6ZYL4	Anti Tag CoIP	28514442
Intra	ERCC3	P19447	GTF2H5	Homo sapiens	Q6ZYL4	Anti Tag CoIP	33961781
Intra	ERCC3	P19447	ERCC2	Homo sapiens	P18074	Anti Tag CoIP	16669699
Intra	ERCC3	P19447	ERCC2	Homo sapiens	P18074	Anti Bait CoIP	19934020
Intra	ERCC3	P19447	MAGED1	Homo sapiens	Q9Y5V3	Y2H Prey Pooling	32296183
Intra	ERCC3	P19447	MAGED1	Homo sapiens	Q9Y5V3	Validated Y2H	32296183
Intra	ERCC3	P19447	MAGED1	Homo sapiens	Q9Y5V3	Y2H Array	32296183
Intra	ERCC3	P19447	TRIM27	Homo sapiens	P14373	Y2H Array	32296183
Intra	ERCC3	P19447	TRIM27	Homo sapiens	P14373	Y2H Prey Pooling	32296183
Intra	ERCC3	P19447	TRIM27	Homo sapiens	P14373	Y2H Array	31515488
Intra	ERCC3	P19447	CEP70	Homo sapiens	Q8NHQ1	Y2H Prey Pooling	25416956
Intra	ERCC3	P19447	CEP76	Homo sapiens	Q8TAP6	Y2H Array	32296183
Intra	ERCC3	P19447	CEP76	Homo sapiens	Q8TAP6	Y2H Prey Pooling	32296183
Intra	ERCC3	P19447	CEP76	Homo sapiens	Q8TAP6	Validated Y2H	32296183
Intra	ERCC3	P19447	RAD23B	Homo sapiens	P54727	Pull Down	10734143

Cross: Cross-species interaction Intra: Intraspecies interaction

ERCC3 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P85476	TFIIH p89 Antibody (YA5168)	WB	Human, Mouse, Rat, Bovine, Dog

Related Diseases

Diseases	Alias
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
Trichothiodystrophy 2, Photosensitive	TTD2 Photosensitive Trichothiodystrophy 2
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
Trichothiodystrophy	Ttd Amish Brittle Hair Syndrome Bids Syndrome Brittle Hair-Intellectual Impairment-Decreased Fertility-Short Stature Syndrome Ibids Pibids Trichothiodystrophy Syndromes
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Xp/Cs Complex
Cockayne Syndrome	Cockayne'S Syndrome Dwarfism-Retinal Atrophy-Deafness Syndrome Neill-Dingwall Syndrome Progeria-Like Syndrome Progeroid Nanism Cs
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
Skin Carcinoma	Skin Cancer Carcinoma Of Skin Ca - Skin Cancer Cancer Of Skin Malignant Neoplasm Of Skin Melanoma And Non-Melanoma Skin Cancer Skin Cancers Cancer, Skin
Hair Disease	Hair Diseases Hair Anomaly Hair Disorder Hair Problems
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
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, Complementation Group F	Xeroderma Pigmentosum, Group F Xeroderma Pigmentosum Vi Xp6 Xeroderma Pigmentosum, Type F/Cockayne Syndrome XPF Xp, Group F Xeroderma Pigmentosum Group F Xp Group F Xeroderma Pigmentosum, Type 6 Xeroderma Pigmentosum Complementation Group F XP-F Xeroderma Pigmentosum Type F/Cockayne Syndrome XPF/CS
Uv-Sensitive Syndrome	Uvss Uv Sensitive Syndrome Ultraviolet Sensitive Syndrome
Cerebrooculofacioskeletal Syndrome	Cerebro-Oculo-Facio-Skeletal Syndrome Cofs Syndrome Pena-Shokeir Syndrome Type 2 Pena Shokeir Syndrome Type 2
De Sanctis-Cacchione Syndrome	Xerodermic Idiocy Xeroderma Pigmentosum With Neurologic Manifestation DSC Xerodermic Idiocy Of De Sanctis And Cacchione
Parkinsonism With Spasticity, X-Linked	X-Linked Parkinsonism-Spasticity Syndrome XPDS X-Linked Parkinsonism With Spasticity
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
Xeroderma Pigmentosum, Complementation Group A	Xeroderma Pigmentosum Group A Xp1 Xeroderma Pigmentosum, Group A XPA Xeroderma Pigmentosum I Xeroderma Pigmentosum Complementation Group A Xp Group A Xp, Group A Xeroderma Pigmentosum 1 Xeroderma Pigmentosum, Type 1 XP-A
Trichothiodystrophy 3, Photosensitive	TTD3 Trichothiodystrophy, Complementation Group A Ttda Photosensitive Trichothiodystrophy 3 Trichothiodystrophy Complementation Group A
Xfe Progeroid Syndrome	Xpf-Ercc1 Progeroid Syndrome XFEPS
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
Ichthyosis	Ichthyoses Non-Syndromic Ichthyosis Congenital Ichthyosis
Cockayne Syndrome B	Cockayne Syndrome Type 2 Cockayne Syndrome, Type B Cockayne Syndrome Type Ii CSB Cockayne Syndrome 2 Cockayne Syndrome Type B Ckn2 Cockayne Syndrome, Type Ii
Prostate Calculus	Calculus Of Prostate Prostatic Lithiasis Stone Of Prostate Prostatic Stone Prostate Calculi Prostatolithiasis
Rothmund-Thomson Syndrome, Type 2	Rothmund-Thomson Syndrome Rts RTS2 Poikiloderma Of Rothmund-Thomson Rothmund-Thomson Syndrome Type 2 Congenital Poikiloderma Poikiloderma Congenitale Poikiloderma Atrophicans And Cataract Poikiloderma Congenitale Of Rothmund-Thomson Poikiloderma Of Rothmund-Thomson Type 2 Rothmund-Thomson Syndrome 2 Erythrokeratodermia Variabilis
Skin Benign Neoplasm	Neoplasm Of Skin By Site Tumor Of The Skin Skin Tumor Benign Neoplasm Of Skin Skin Neoplasms
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
Ovarian Cancer	Ovarian Carcinoma Ovarian Neoplasm Malignant Tumour Of Ovary Cancer Of The Ovary Epithelial Ovarian Cancer Neoplasm Of Ovary Ovarian Neoplasms Ovarian Cancers Malignant Neoplasm Of Ovary Primary Malignant Neoplasm Of Ovary Ovarian Cancer, Somatic Malignant Ovarian Tumor Ovary Neoplasm Primary Ovarian Cancer Tumor Of The Ovary Malignant Neoplasm Of The Ovary Malignant Tumor Of The Ovary Ovarian Malignant Tumor OC Ovarian Carcinomas Cancer, Ovarian Cancer Of Ovary Ovary Cancer Ca Ovary
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 (5)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-141549	BPK-21		99.56%	Unkown
HY-D2331	ZL-12A probe		99.71%	Unkown
HY-RS04480	ERCC3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS19680	Ercc3 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26173	Ercc3 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	ERCC3	MGD	MGI:95414
Canis familiaris	ERCC3	VGNC	VGNC:40443
Rattus norvegicus	ERCC3	RGD	RGD:1307139
Macaca mulatta	ERCC3	VGNC	VGNC:104526
Felis catus	ERCC3	VGNC	VGNC:61932
Bos taurus	ERCC3	VGNC	VGNC:28570
Others	ERCC3	NCBI