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Protein

DNA repair protein complementing XP-A cells

Gene

XPA

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Involved in DNA excision repair. Initiates repair by binding to damaged sites with various affinities, depending on the photoproduct and the transcriptional state of the region. Required for UV-induced CHEK1 phosphorylation and the recruitment of CEP164 to cyclobutane pyrimidine dimmers (CPD), sites of DNA damage after UV irradiation.1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri105 – 129Add BLAST25

GO - Molecular functioni

  • damaged DNA binding Source: UniProtKB
  • metal ion binding Source: UniProtKB-KW
  • protein domain specific binding Source: UniProtKB
  • protein homodimerization activity Source: UniProtKB

GO - Biological processi

Keywordsi

Molecular functionDNA-binding
Biological processDNA damage, DNA repair
LigandMetal-binding, Zinc

Enzyme and pathway databases

ReactomeiR-HSA-5696395 Formation of Incision Complex in GG-NER
R-HSA-5696400 Dual Incision in GG-NER
R-HSA-6781823 Formation of TC-NER Pre-Incision Complex
R-HSA-6782135 Dual incision in TC-NER
SIGNORiP23025

Names & Taxonomyi

Protein namesi
Recommended name:
DNA repair protein complementing XP-A cells
Alternative name(s):
Xeroderma pigmentosum group A-complementing protein
Gene namesi
Name:XPA
Synonyms:XPAC
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 9

Organism-specific databases

EuPathDBiHostDB:ENSG00000136936.10
HGNCiHGNC:12814 XPA
MIMi611153 gene
neXtProtiNX_P23025

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Xeroderma pigmentosum complementation group A (XP-A)5 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive pigmentary skin disorder characterized by solar hypersensitivity of the skin, high predisposition for developing cancers on areas exposed to sunlight and, in some cases, neurological abnormalities. The skin develops marked freckling and other pigmentation abnormalities. XP-A patients show the most severe skin symptoms and progressive neurological disorders.
See also OMIM:278700
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00772794P → L in XP-A. 1
Natural variantiVAR_007728108C → F in XP-A; severe form. 2 PublicationsCorresponds to variant dbSNP:rs104894131EnsemblClinVar.1
Natural variantiVAR_007729130R → K in XP-A. 1
Natural variantiVAR_007730185Q → H in XP-A. Corresponds to variant dbSNP:rs746617574EnsemblClinVar.1
Natural variantiVAR_007731244H → R in XP-A; mild form. 1 PublicationCorresponds to variant dbSNP:rs144725456EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Xeroderma pigmentosum

Organism-specific databases

DisGeNETi7507
GeneReviewsiXPA
MalaCardsiXPA
MIMi278700 phenotype
OpenTargetsiENSG00000136936
Orphaneti910 Xeroderma pigmentosum
PharmGKBiPA368

Polymorphism and mutation databases

BioMutaiXPA
DMDMi139816

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedCombined sources
ChainiPRO_00002086482 – 273DNA repair protein complementing XP-A cellsAdd BLAST272

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylalanineCombined sources1
Cross-linki63Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki86Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki145Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei196PhosphoserineCombined sources1 Publication1

Post-translational modificationi

ATR-dependent phosphorylation of XPA at Ser-196 is important for cell survival in response to UV damage.1 Publication
Ubiquitinated by HERC2 leading to degradation by the proteasome.1 Publication

Keywords - PTMi

Acetylation, Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiP23025
MaxQBiP23025
PaxDbiP23025
PeptideAtlasiP23025
PRIDEiP23025
ProteomicsDBi54051

PTM databases

iPTMnetiP23025
PhosphoSitePlusiP23025

Expressioni

Tissue specificityi

Expressed in various cell lines and in skin fibroblasts.2 Publications

Gene expression databases

BgeeiENSG00000136936 Expressed in 224 organ(s), highest expression level in amniotic fluid
CleanExiHS_XPA
ExpressionAtlasiP23025 baseline and differential
GenevisibleiP23025 HS

Organism-specific databases

HPAiCAB000155
HPA056856

Interactioni

Subunit structurei

Interacts with GPN1. Interacts with RPA1 and RPA2; the interaction is direct and associates XPA with the RPA complex. Interacts (via N-terminus) with CEP164 upon UV irradiation. Interacts with HERC2.5 Publications

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi113344, 30 interactors
CORUMiP23025
DIPiDIP-24191N
ELMiP23025
IntActiP23025, 39 interactors
MINTiP23025
STRINGi9606.ENSP00000364270

Structurei

Secondary structure

1273
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

DisProtiDP00243
ProteinModelPortaliP23025
SMRiP23025
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP23025

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni4 – 97Interaction with CEP164 and required for UV resistance1 PublicationAdd BLAST94

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi26 – 47Nuclear localization signalSequence analysisAdd BLAST22

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi78 – 84Poly-Glu7

Sequence similaritiesi

Belongs to the XPA family.Curated

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri105 – 129Add BLAST25

Keywords - Domaini

Zinc-finger

Phylogenomic databases

eggNOGiKOG4017 Eukaryota
COG5145 LUCA
GeneTreeiENSGT00390000002721
HOGENOMiHOG000045820
HOVERGENiHBG009053
InParanoidiP23025
KOiK10847
OMAiVAHQHEY
OrthoDBiEOG091G17K3
PhylomeDBiP23025
TreeFamiTF101241

Family and domain databases

Gene3Di3.90.530.10, 1 hit
InterProiView protein in InterPro
IPR009061 DNA-bd_dom_put_sf
IPR000465 XPA
IPR022656 XPA_C
IPR022658 XPA_CS
IPR037129 XPA_sf
IPR022652 Znf_XPA_CS
PANTHERiPTHR10142 PTHR10142, 1 hit
PfamiView protein in Pfam
PF05181 XPA_C, 1 hit
PF01286 XPA_N, 1 hit
SUPFAMiSSF46955 SSF46955, 1 hit
TIGRFAMsiTIGR00598 rad14, 1 hit
PROSITEiView protein in PROSITE
PS00752 XPA_1, 1 hit
PS00753 XPA_2, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

P23025-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MAAADGALPE AAALEQPAEL PASVRASIER KRQRALMLRQ ARLAARPYSA
60 70 80 90 100
TAAAATGGMA NVKAAPKIID TGGGFILEEE EEEEQKIGKV VHQPGPVMEF
110 120 130 140 150
DYVICEECGK EFMDSYLMNH FDLPTCDNCR DADDKHKLIT KTEAKQEYLL
160 170 180 190 200
KDCDLEKREP PLKFIVKKNP HHSQWGDMKL YLKLQIVKRS LEVWGSQEAL
210 220 230 240 250
EEAKEVRQEN REKMKQKKFD KKVKELRRAV RSSVWKRETI VHQHEYGPEE
260 270
NLEDDMYRKT CTMCGHELTY EKM
Length:273
Mass (Da):31,368
Last modified:November 1, 1991 - v1
Checksum:iF89F735219A8494B
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F2Z2T2F2Z2T2_HUMAN
DNA repair protein-complementing XP...
XPA
264Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01420378Missing 1 Publication1
Natural variantiVAR_00772794P → L in XP-A. 1
Natural variantiVAR_03790797V → I. Corresponds to variant dbSNP:rs10983315Ensembl.1
Natural variantiVAR_007728108C → F in XP-A; severe form. 2 PublicationsCorresponds to variant dbSNP:rs104894131EnsemblClinVar.1
Natural variantiVAR_007729130R → K in XP-A. 1
Natural variantiVAR_007730185Q → H in XP-A. Corresponds to variant dbSNP:rs746617574EnsemblClinVar.1
Natural variantiVAR_014799228R → Q. Corresponds to variant dbSNP:rs1805160EnsemblClinVar.1
Natural variantiVAR_029325234V → L. Corresponds to variant dbSNP:rs3176749Ensembl.1
Natural variantiVAR_007731244H → R in XP-A; mild form. 1 PublicationCorresponds to variant dbSNP:rs144725456EnsemblClinVar.1
Natural variantiVAR_020324252L → V. Corresponds to variant dbSNP:rs3176750EnsemblClinVar.1
Natural variantiVAR_061987256M → V. Corresponds to variant dbSNP:rs57519506EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
D14533 mRNA Translation: BAA03403.1
BT019518 mRNA Translation: AAV38325.1
AF503166 Genomic DNA Translation: AAM18969.1
AL445531 Genomic DNA No translation available.
CH471105 Genomic DNA Translation: EAW58855.1
BC014965 mRNA Translation: AAH14965.1
U16815 Genomic DNA Translation: AAB60404.1
U10347
, U10343, U10344, U10345, U10346 Genomic DNA Translation: AAA92883.1
CCDSiCCDS6729.1
PIRiI38886
JG0190
RefSeqiNP_000371.1, NM_000380.3
UniGeneiHs.654364

Genome annotation databases

EnsembliENST00000375128; ENSP00000364270; ENSG00000136936
GeneIDi7507
KEGGihsa:7507
UCSCiuc004axr.5 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology
NIEHS-SNPs
Protein Spotlight

Nature's flaws - Issue 142 of September 2012

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
D14533 mRNA Translation: BAA03403.1
BT019518 mRNA Translation: AAV38325.1
AF503166 Genomic DNA Translation: AAM18969.1
AL445531 Genomic DNA No translation available.
CH471105 Genomic DNA Translation: EAW58855.1
BC014965 mRNA Translation: AAH14965.1
U16815 Genomic DNA Translation: AAB60404.1
U10347
, U10343, U10344, U10345, U10346 Genomic DNA Translation: AAA92883.1
CCDSiCCDS6729.1
PIRiI38886
JG0190
RefSeqiNP_000371.1, NM_000380.3
UniGeneiHs.654364

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1D4UNMR-A98-208[»]
1XPANMR-A98-219[»]
2JNWNMR-B67-80[»]
DisProtiDP00243
ProteinModelPortaliP23025
SMRiP23025
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi113344, 30 interactors
CORUMiP23025
DIPiDIP-24191N
ELMiP23025
IntActiP23025, 39 interactors
MINTiP23025
STRINGi9606.ENSP00000364270

PTM databases

iPTMnetiP23025
PhosphoSitePlusiP23025

Polymorphism and mutation databases

BioMutaiXPA
DMDMi139816

Proteomic databases

EPDiP23025
MaxQBiP23025
PaxDbiP23025
PeptideAtlasiP23025
PRIDEiP23025
ProteomicsDBi54051

Protocols and materials databases

DNASUi7507
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000375128; ENSP00000364270; ENSG00000136936
GeneIDi7507
KEGGihsa:7507
UCSCiuc004axr.5 human

Organism-specific databases

CTDi7507
DisGeNETi7507
EuPathDBiHostDB:ENSG00000136936.10
GeneCardsiXPA
GeneReviewsiXPA
HGNCiHGNC:12814 XPA
HPAiCAB000155
HPA056856
MalaCardsiXPA
MIMi278700 phenotype
611153 gene
neXtProtiNX_P23025
OpenTargetsiENSG00000136936
Orphaneti910 Xeroderma pigmentosum
PharmGKBiPA368
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4017 Eukaryota
COG5145 LUCA
GeneTreeiENSGT00390000002721
HOGENOMiHOG000045820
HOVERGENiHBG009053
InParanoidiP23025
KOiK10847
OMAiVAHQHEY
OrthoDBiEOG091G17K3
PhylomeDBiP23025
TreeFamiTF101241

Enzyme and pathway databases

ReactomeiR-HSA-5696395 Formation of Incision Complex in GG-NER
R-HSA-5696400 Dual Incision in GG-NER
R-HSA-6781823 Formation of TC-NER Pre-Incision Complex
R-HSA-6782135 Dual incision in TC-NER
SIGNORiP23025

Miscellaneous databases

EvolutionaryTraceiP23025
GeneWikiiXPA
GenomeRNAii7507
PROiPR:P23025
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000136936 Expressed in 224 organ(s), highest expression level in amniotic fluid
CleanExiHS_XPA
ExpressionAtlasiP23025 baseline and differential
GenevisibleiP23025 HS

Family and domain databases

Gene3Di3.90.530.10, 1 hit
InterProiView protein in InterPro
IPR009061 DNA-bd_dom_put_sf
IPR000465 XPA
IPR022656 XPA_C
IPR022658 XPA_CS
IPR037129 XPA_sf
IPR022652 Znf_XPA_CS
PANTHERiPTHR10142 PTHR10142, 1 hit
PfamiView protein in Pfam
PF05181 XPA_C, 1 hit
PF01286 XPA_N, 1 hit
SUPFAMiSSF46955 SSF46955, 1 hit
TIGRFAMsiTIGR00598 rad14, 1 hit
PROSITEiView protein in PROSITE
PS00752 XPA_1, 1 hit
PS00753 XPA_2, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiXPA_HUMAN
AccessioniPrimary (citable) accession number: P23025
Secondary accession number(s): Q5T1U9, Q6LCW7, Q6LD02
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1991
Last sequence update: November 1, 1991
Last modified: November 7, 2018
This is version 199 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  7. Protein Spotlight
    Protein Spotlight articles and cited UniProtKB/Swiss-Prot entries
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Main funding by: National Institutes of Health

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