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

Homo sapiens

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

Gene ID: 2071 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

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

Bioactive Molecules (3)

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 Sets	/	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