Seroatlas · Human Serome Atlas

ERCC3

General transcription and DNA repair factor IIH helicase/translocase subunit XPB

Also known as: BTF2, ERCC3_HUMAN, RAD25, Ssl2, XPB

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: P19447
Gene: ERCC3
Ensembl: ENSG00000163161
Chromosome: 2
Canonical length: 782 aa
Protein class: Cancer-related genes, Disease related genes, Enzymes, Human disease related genes, Plasma proteins, Potential drug targets, Predicted intracellular proteins
Subcellular location: Nucleoplasm,Vesicles

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

782 residues, UniProt reviewed canonical sequence.

>P19447|ERCC3
     1  MGKRDRADRD KKKSRKRHYE DEEDDEEDAP GNDPQEAVPS AAGKQVDESG TKVDEYGAKD
    61  YRLQMPLKDD HTSRPLWVAP DGHIFLEAFS PVYKYAQDFL VAIAEPVCRP THVHEYKLTA
   121  YSLYAAVSVG LQTSDITEYL RKLSKTGVPD GIMQFIKLCT VSYGKVKLVL KHNRYFVESC
   181  HPDVIQHLLQ DPVIRECRLR NSEGEATELI TETFTSKSAI SKTAESSGGP STSRVTDPQG
   241  KSDIPMDLFD FYEQMDKDEE EEEETQTVSF EVKQEMIEEL QKRCIHLEYP LLAEYDFRND
   301  SVNPDINIDL KPTAVLRPYQ EKSLRKMFGN GRARSGVIVL PCGAGKSLVG VTAACTVRKR
   361  CLVLGNSAVS VEQWKAQFKM WSTIDDSQIC RFTSDAKDKP IGCSVAISTY SMLGHTTKRS
   421  WEAERVMEWL KTQEWGLMIL DEVHTIPAKM FRRVLTIVQA HCKLGLTATL VREDDKIVDL
   481  NFLIGPKLYE ANWMELQNNG YIAKVQCAEV WCPMSPEFYR EYVAIKTKKR ILLYTMNPNK
   541  FRACQFLIKF HERRNDKIIV FADNVFALKE YAIRLNKPYI YGPTSQGERM QILQNFKHNP
   601  KINTIFISKV GDTSFDLPEA NVLIQISSHG GSRRQEAQRL GRVLRAKKGM VAEEYNAFFY
   661  SLVSQDTQEM AYSTKRQRFL VDQGYSFKVI TKLAGMEEED LAFSTKEEQQ QLLQKVLAAT
   721  DLDAEEEVVA GEFGSRSSQA SRRFGTMSSM SGADDTVYME YHSSRSKAPS KHVHPLFKRF
   781  RK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ERCC3 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.31
Highest tissue expression: 30 nTPM

Expression across tissuesHPA

Tissue

skeletal muscle: 30 nTPM
parathyroid gland: 25 nTPM
thymus: 25 nTPM
testis: 25 nTPM
tongue: 24 nTPM
spleen: 21 nTPM

Single-cell type

pdcs: 50 nCPM
adrenal cortex cells: 49 nCPM
microglia: 48 nCPM
respiratory ciliated cells: 48 nCPM
late primary spermatocytes: 47 nCPM
tuft cells: 46 nCPM

Immune cell

NK-cell: 25 nTPM
T-reg: 21 nTPM
MAIT T-cell: 19 nTPM
gdT-cell: 18 nTPM
naive CD4 T-cell: 18 nTPM
myeloid DC: 17 nTPM

Brain region

choroid plexus: 18 nTPM
cerebral cortex: 11 nTPM
pons: 9.8 nTPM
basal ganglia: 9.6 nTPM
medulla oblongata: 9.4 nTPM
hippocampal formation: 9.2 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ERCC3.

Disease | AllUniProt

Conditions ERCC3 is implicated in, by any mechanism.

Xeroderma pigmentosum complementation group B (XP-B) MIM:610651
Trichothiodystrophy 2, photosensitive (TTD2) MIM:616390

Disease | GeneticClinVar

63 pathogenic / likely-pathogenic of 685 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Xeroderma pigmentosum group B
Trichothiodystrophy 2, photosensitive
Xeroderma pigmentosum
Inborn genetic diseases
ERCC3-related disorder

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.79
gnomAD pLI: 0
gnomAD missense Z: 0.93
DepMap mean gene effect: -1.47
DepMap dependency class: pan

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

nucleoplasm
nucleus
transcription factor TFIID complex
transcription factor TFIIH core complex
transcription factor TFIIH holo complex
transcription preinitiation complex
nucleotide-excision repair factor 3 complex

Protein domainsUniProt · Pfam · InterPro

Helicase, C-terminal domain-like
Helicase/UvrB, N-terminal
Helicase superfamily 1/2, ATP-binding domain
P-loop containing nucleoside triphosphate hydrolase
Type III restriction enzyme, res subunit
Helicase XPB/Ssl2
ERCC3/RAD25/XPB helicase, C-terminal domain
Helicase XPB/Ssl2, N-terminal domain
ATP-dependent DNA Helicase
Helicase conserved C-terminal domain
ERCC3/RAD25/XPB C-terminal helicase

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of ERCC3 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads ERCC3 as an antibody target. Whether an autoantibody or antibody against ERCC3 could matter depends on whether native ERCC3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ERCC3 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label ERCC3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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