DNA excision repair protein ERCC-1 - Homo sapiens (Human)

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Reviewed, UniProtKB/Swiss-Prot P07992 (ERCC1_HUMAN)

Last modified June 16, 2009. Version 97. History...

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Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents

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Names and origin

Protein names

Recommended name:
DNA excision repair protein ERCC-1

Gene names

Name:

ERCC1

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

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Protein attributes

Sequence length	297 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at protein level.

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General annotation (Comments)

Function	Structure-specific DNA repair endonuclease responsible for the 5'-incision during DNA repair.
Subunit structure	Heterodimer composed of ERCC1 and XPF/ERRC4.
Subcellular location	Nucleus.
Involvement in disease	Defects in ERCC1 are the cause of cerebro-oculo-facio-skeletal syndrome type 4 (COFS4) [MIM:610758]. COFS is a degenerative autosomal recessive disorder of prenatal onset affecting the brain, eye and spinal cord. After birth, it leads to brain atrophy, hypoplasia of the corpus callosum, hypotonia, cataracts, microcornea, optic atrophy, progressive joint contractures and growth failure. Facial dysmorphism is a constant feature. Abnormalities of the skull, eyes, limbs, heart and kidney also occur. Ref.7
Sequence similarities	Belongs to the ERCC1/RAD10/SWI10 family.

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Ontologies

Keywords
Biological process	DNA damage DNA repair
Cellular component	Nucleus
Coding sequence diversity	Polymorphism
Disease	Cataract
Ligand	DNA-binding
Molecular function	Endonuclease Hydrolase Nuclease
Technical term	3D-structure
Gene Ontology (GO)
Biological process	mitotic recombination Inferred from mutant phenotype. Source: UniProtKB negative regulation of telomere maintenance Inferred from mutant phenotype. Source: UniProtKB nucleotide-excision repair, DNA damage removal Inferred from Experiment. Source: Reactome nucleotide-excision repair, DNA incision, 3'-to lesion Inferred from mutant phenotype. Source: UniProtKB nucleotide-excision repair, DNA incision, 5'-to lesion Inferred from mutant phenotype. Source: UniProtKB response to oxidative stress Inferred from mutant phenotype. Source: UniProtKB
Cellular component	nuclear chromosome, telomeric region Inferred from direct assay. Source: UniProtKB nucleoplasm Inferred from Experiment. Source: Reactome nucleotide-excision repair complex Inferred from direct assay. Source: UniProtKB
Molecular function	damaged DNA binding Inferred from direct assay. Source: UniProtKB endonuclease activity Inferred from electronic annotation. Source: UniProtKB-KW protein C-terminus binding Inferred from physical interaction. Source: UniProtKB protein domain specific binding Inferred from physical interaction. Source: UniProtKB single-stranded DNA binding Inferred from direct assay. Source: UniProtKB
Complete GO annotation...

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Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 297

297

DNA excision repair protein ERCC-1

PRO_0000087006

Regions

DNA binding

134 – 156

Potential

Motif

17 – 23

Nuclear localization signal Potential

Natural variations

Natural variant

231

F → L in COFS4. Ref.7

VAR_032776

Natural variant

266

A → T: dbSNP rs3212977. Ref.5

VAR_019167

Secondary structure

297

Helix Strand Turn

Details...

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Sequences

Sequence

Length

Mass (Da)

Tools

P07992-1 [UniParc].

Last modified August 1, 1988. Version 1.
Checksum: 6FCE3615732349E5
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FASTA

297

32,562

        10         20         30         40         50         60 
MDPGKDKEGV PQPSGPPARK KFVIPLDEDE VPPGVAKPLF RSTQSLPTVD TSAQAAPQTY 

        70         80         90        100        110        120 
AEYAISQPLE GAGATCPTGS EPLAGETPNQ ALKPGAKSNS IIVSPRQRGN PVLKFVRNVP 

       130        140        150        160        170        180 
WEFGDVIPDY VLGQSTCALF LSLRYHNLHP DYIHGRLQSL GKNFALRVLL VQVDVKDPQQ 

       190        200        210        220        230        240 
ALKELAKMCI LADCTLILAW SPEEAGRYLE TYKAYEQKPA DLLMEKLEQD FVSRVTECLT 

       250        260        270        280        290 
TVKSVNKTDS QTLLTTFGSL EQLIAASRED LALCPGLGPQ KARRLFDVLH EPFLKVP

« Hide

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References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Molecular characterization of the human excision repair gene ERCC-1: cDNA cloning and amino acid homology with the yeast DNA repair gene RAD10." van Duin M., de Wit J., Odijk H., Westerveld A., Yasui A., Koken M.H.M., Hoeijmakers J.H.J., Bootsma D. Cell 44:913-923(1986) [PubMed: 2420469] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[2]	"Identification of DNA repair genes in the human genome." Hoeijmakers J.H.J., van Duin M., Westerveld A., Yasui A., Bootsma D. Cold Spring Harb. Symp. Quant. Biol. 51:91-101(1986) [PubMed: 3034490] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[3]	"A nucleotide polymorphism in ERCC1 in human ovarian cancer cell lines and tumor tissues." Yu J.J., Mu C.J., Lee K.B., Okamoto A., Reed E.L., Bostick-Bruton F., Mitchell K.C., Reed E. Mutat. Res. 382:13-20(1997) [PubMed: 9360634] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[4]	"Cloning of human full-length CDSs in BD Creator(TM) system donor vector." Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A. Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[5]	NIEHS SNPs program Submitted (MAY-2002) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT THR-266.
[6]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Lung.
[7]	"First reported patient with human ERCC1 deficiency has cerebro-oculo-facio-skeletal syndrome with a mild defect in nucleotide excision repair and severe developmental failure." Jaspers N.G.J., Raams A., Silengo M.C., Wijgers N., Niedernhofer L.J., Robinson A.R., Giglia-Mari G., Hoogstraten D., Kleijer W.J., Hoeijmakers J.H.J., Vermeulen W. Am. J. Hum. Genet. 80:457-466(2007) [PubMed: 17273966] [Abstract] Cited for: VARIANT COFS4 LEU-231.
+	Additional computationally mapped references.

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Web resources

Atlas of Genetics and Cytogenetics in Oncology and Haematology

NIEHS-SNPs

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Cross-references

Sequence databases

M13194 mRNA. Translation: AAA52394.1.
M26163 Genomic DNA. Translation: AAA52395.1.
M28650 mRNA. Translation: AAA35810.1.
AF001925 mRNA. Translation: AAC16253.1.
BT019806 mRNA. Translation: AAV38609.1.
AF512555 Genomic DNA. Translation: AAM34796.1.
BC008930 mRNA. Translation: AAH08930.1.

IPI

IPI00014040.

PIR

A24781. A32875.

RefSeq

NP_001974.1.

UniGene

Hs.435981

3D structure databases

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
1Z00	NMR	-	A	220-297	[»]
2A1I	X-ray	1.90	A	96-227	[»]
2A1J	X-ray	2.70	B	220-296	[»]
2JNW	NMR	-	A	96-214	[»]
2JPD	NMR	-	A	96-219	[»]

ModBase

Search...

Protein-protein interaction databases

DIP

DIP:24235N.

IntAct

P07992. 2 interactions.

Proteomic databases

PRIDE

P07992.

Genome annotation databases

Ensembl

ENSG00000012061. Homo sapiens. [Contig view]

GeneID

2067.

KEGG

hsa:2067.

Organism-specific databases

GeneCards

GC19M050602.

H-InvDB

HIX0022267.

HGNC

HGNC:3433. ERCC1.

HPA

CAB004390.

MIM

126380. gene.
610758. phenotype.

Orphanet

1466. COFS syndrome.

PharmGKB

PA155.

GenAtlas

Search...

Phylogenomic databases

HOVERGEN

P07992.

Enzyme and pathway databases

Reactome

REACT_216. DNA Repair.

Gene expression databases

ArrayExpress

P07992.

Bgee

P07992.

CleanEx

HS_ERCC1.

GermOnline

ENSG00000012061. Homo sapiens.

Family and domain databases

InterPro

IPR004579. DNA_repair_Rad10.
IPR003583. Helix-hairpin-helix_DNA-bd.
IPR000445. HhH_motif.
[Graphical view]

Pfam

PF00633. HHH. 1 hit.
PF03834. Rad10. 1 hit.
[Graphical view]

SMART

SM00278. HhH1. 1 hit.
[Graphical view]

TIGRFAMs

TIGR00597. rad10. 1 hit.

ProtoNet

Search...

Other Resources

NextBio

8403.

SOURCE

Search...

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Entry information

Entry name

ERCC1_HUMAN

Accession

Primary (citable) accession number: P07992

Entry history

Integrated into UniProtKB/Swiss-Prot:	August 1, 1988
Last sequence update:	August 1, 1988
Last modified:	June 16, 2009
This is version 97 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

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