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Protein

UV-stimulated scaffold protein A

Gene

UVSSA

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

Functioni

Factor involved in transcription-coupled nucleotide excision repair (TC-NER) in response to UV damage. TC-NER allows RNA polymerase II-blocking lesions to be rapidly removed from the transcribed strand of active genes. Acts by promoting stabilization of ERCC6 by recruiting deubiquitinating enzyme USP7 to TC-NER complexes, preventing UV-induced degradation of ERCC6 by the proteasome. Interacts with the elongating form of RNA polymerase II (RNA pol IIo) and facilitates its ubiquitination at UV damage sites, leading to promote RNA pol IIo backtracking to allow access to the nucleotide excision repair machinery. Not involved in processing oxidative damage.3 Publications

GO - Molecular functioni

  • RNA polymerase II complex binding Source: UniProtKB

GO - Biological processi

  • protein ubiquitination Source: UniProtKB
  • response to UV Source: UniProtKB
  • transcription-coupled nucleotide-excision repair Source: UniProtKB

Keywordsi

Biological processDNA damage, DNA repair

Enzyme and pathway databases

ReactomeiR-HSA-6781823 Formation of TC-NER Pre-Incision Complex
R-HSA-6781827 Transcription-Coupled Nucleotide Excision Repair (TC-NER)
R-HSA-6782135 Dual incision in TC-NER
R-HSA-6782210 Gap-filling DNA repair synthesis and ligation in TC-NER

Names & Taxonomyi

Protein namesi
Recommended name:
UV-stimulated scaffold protein A
Gene namesi
Name:UVSSA
Synonyms:KIAA1530
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 4

Organism-specific databases

EuPathDBiHostDB:ENSG00000163945.15
HGNCiHGNC:29304 UVSSA
MIMi614632 gene
neXtProtiNX_Q2YD98

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

Chromosome

Pathology & Biotechi

Involvement in diseasei

UV-sensitive syndrome 3 (UVSS3)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder characterized by cutaneous photosensitivity and slight dyspigmentation, without an increased risk of skin tumors.
See also OMIM:614640
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06779832C → R in UVSS3; mild phenotype; impairs transcription-coupled nucleotide excision repair ability. 1 PublicationCorresponds to variant dbSNP:rs387907164EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi120W → A: Impairs transcription-coupled nucleotide excision repair ability. 1 Publication1
Mutagenesisi157 – 159RKR → EEE: Impairs transcription-coupled nucleotide excision repair ability. 1 Publication3

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi57654
MalaCardsiUVSSA
MIMi614640 phenotype
OpenTargetsiENSG00000163945
Orphaneti178338 UV-sensitive syndrome
PharmGKBiPA162393105

Polymorphism and mutation databases

BioMutaiUVSSA
DMDMi296434546

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003172821 – 709UV-stimulated scaffold protein AAdd BLAST709

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei281PhosphoserineCombined sources1
Modified residuei287PhosphoserineCombined sources1

Post-translational modificationi

Monoubiquitinated: ubiquitination does not increase in response to UV.1 Publication

Keywords - PTMi

Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiQ2YD98
MaxQBiQ2YD98
PaxDbiQ2YD98
PeptideAtlasiQ2YD98
PRIDEiQ2YD98
ProteomicsDBi61547
61548 [Q2YD98-2]

PTM databases

iPTMnetiQ2YD98
PhosphoSitePlusiQ2YD98

Expressioni

Gene expression databases

BgeeiENSG00000163945 Expressed in 199 organ(s), highest expression level in oviduct epithelium
CleanExiHS_KIAA1530
ExpressionAtlasiQ2YD98 baseline and differential
GenevisibleiQ2YD98 HS

Organism-specific databases

HPAiHPA050824
HPA053496

Interactioni

Subunit structurei

Interacts with the elongating form of RNA polymerase II (RNA pol IIo). Interacts with ERCC6, ERCC8 and USP7.2 Publications

GO - Molecular functioni

Protein-protein interaction databases

BioGridi121689, 12 interactors
IntActiQ2YD98, 5 interactors
MINTiQ2YD98
STRINGi9606.ENSP00000374501

Structurei

Secondary structure

1709
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliQ2YD98
SMRiQ2YD98
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni2 – 145VHS-likeAdd BLAST144

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili165 – 199Sequence analysisAdd BLAST35

Sequence similaritiesi

Belongs to the UVSSA family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiKOG2374 Eukaryota
ENOG410XP15 LUCA
GeneTreeiENSGT00390000000377
HOGENOMiHOG000060117
HOVERGENiHBG076421
InParanoidiQ2YD98
OMAiYEPHIPD
OrthoDBiEOG091G054F
PhylomeDBiQ2YD98
TreeFamiTF321660

Family and domain databases

InterProiView protein in InterPro
IPR018610 UVSSA
PANTHERiPTHR28670 PTHR28670, 1 hit
PfamiView protein in Pfam
PF09740 DUF2043, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: Q2YD98-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MDQKLSKLVE ELTTSGEPRL NPEKMKELKK ICKSSEEQLS RAYRLLIAQL
60 70 80 90 100
TQEHAEIRLS AFQIVEELFV RSHQFRMLVV SNFQEFLELT LGTDPAQPLP
110 120 130 140 150
PPREAAQRLR QATTRAVEGW NEKFGEAYKK LALGYHFLRH NKKVDFQDTN
160 170 180 190 200
ARSLAERKRE EEKQKHLDKI YQERASQAER EMQEMSGEIE SCLTEVESCF
210 220 230 240 250
RLLVPFDFDP NPETESLGMA SGMSDALRSS CAGQVGPCRS GTPDPRDGEQ
260 270 280 290 300
PCCSRDLPAS AGHPRAGGGA QPSQTATGDP SDEDEDSDLE EFVRSHGLGS
310 320 330 340 350
HKYTLDVELC SEGLKVQENE DNLALIHAAR DTLKLIRNKF LPAVCSWIQR
360 370 380 390 400
FTRVGTHGGC LKRAIDLKAE LELVLRKYKE LDIEPEGGER RRTEALGDAE
410 420 430 440 450
EDEDDEDFVE VPEKEGYEPH IPDHLRPEYG LEAAPEKDTV VRCLRTRTRM
460 470 480 490 500
DEEVSDPTSA AAQLRQLRDH LPPPSSASPS RALPEPQEAQ KLAAERARAP
510 520 530 540 550
VVPYGVDLHY WGQELPTAGK IVKSDSQHRF WKPSEVEEEV VNADISEMLR
560 570 580 590 600
SRHITFAGKF EPVQHWCRAP RPDGRLCERQ DRLKCPFHGK IVPRDDEGRP
610 620 630 640 650
LDPEDRAREQ RRQLQKQERP EWQDPELMRD VEAATGQDLG SSRYSGKGRG
660 670 680 690 700
KKRRYPSLTN LKAQADTARA RIGRKVFAKA AVRRVVAAMN RMDQKKHEKF

SNQFNYALN
Length:709
Mass (Da):80,591
Last modified:May 18, 2010 - v2
Checksum:i34698BE37A43BF2F
GO
Isoform 2 (identifier: Q2YD98-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-449: Missing.

Show »
Length:260
Mass (Da):29,763
Checksum:i5A72163E1A43CE42
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0Y924H0Y924_HUMAN
UV-stimulated scaffold protein A
UVSSA
136Annotation score:

Sequence cautioni

The sequence BAA96054 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06779832C → R in UVSS3; mild phenotype; impairs transcription-coupled nucleotide excision repair ability. 1 PublicationCorresponds to variant dbSNP:rs387907164EnsemblClinVar.1
Natural variantiVAR_038499391R → H. Corresponds to variant dbSNP:rs2276904Ensembl.1
Natural variantiVAR_038500620P → L3 PublicationsCorresponds to variant dbSNP:rs28522910Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0309321 – 449Missing in isoform 2. 2 PublicationsAdd BLAST449

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB040963 mRNA Translation: BAA96054.1 Different initiation.
AK292661 mRNA Translation: BAF85350.1
AC078852 Genomic DNA No translation available.
AC118281 Genomic DNA No translation available.
BC021930 mRNA Translation: AAH21930.1
BC110331 mRNA Translation: AAI10332.1
BC140901 mRNA Translation: AAI40902.1
CCDSiCCDS33938.1 [Q2YD98-1]
RefSeqiNP_001304863.1, NM_001317934.1 [Q2YD98-1]
NP_001304864.1, NM_001317935.1 [Q2YD98-1]
NP_065945.2, NM_020894.3 [Q2YD98-1]
XP_016863979.1, XM_017008490.1 [Q2YD98-1]
XP_016863980.1, XM_017008491.1 [Q2YD98-1]
XP_016863981.1, XM_017008492.1 [Q2YD98-1]
XP_016863982.1, XM_017008493.1 [Q2YD98-1]
XP_016863983.1, XM_017008494.1 [Q2YD98-1]
UniGeneiHs.380475
Hs.744620

Genome annotation databases

EnsembliENST00000389851; ENSP00000374501; ENSG00000163945 [Q2YD98-1]
ENST00000507531; ENSP00000421741; ENSG00000163945 [Q2YD98-1]
ENST00000511216; ENSP00000425130; ENSG00000163945 [Q2YD98-1]
ENST00000511563; ENSP00000423340; ENSG00000163945 [Q2YD98-2]
ENST00000512728; ENSP00000427701; ENSG00000163945 [Q2YD98-2]
GeneIDi57654
KEGGihsa:57654
UCSCiuc003gde.5 human [Q2YD98-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB040963 mRNA Translation: BAA96054.1 Different initiation.
AK292661 mRNA Translation: BAF85350.1
AC078852 Genomic DNA No translation available.
AC118281 Genomic DNA No translation available.
BC021930 mRNA Translation: AAH21930.1
BC110331 mRNA Translation: AAI10332.1
BC140901 mRNA Translation: AAI40902.1
CCDSiCCDS33938.1 [Q2YD98-1]
RefSeqiNP_001304863.1, NM_001317934.1 [Q2YD98-1]
NP_001304864.1, NM_001317935.1 [Q2YD98-1]
NP_065945.2, NM_020894.3 [Q2YD98-1]
XP_016863979.1, XM_017008490.1 [Q2YD98-1]
XP_016863980.1, XM_017008491.1 [Q2YD98-1]
XP_016863981.1, XM_017008492.1 [Q2YD98-1]
XP_016863982.1, XM_017008493.1 [Q2YD98-1]
XP_016863983.1, XM_017008494.1 [Q2YD98-1]
UniGeneiHs.380475
Hs.744620

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5XV8NMR-A390-434[»]
ProteinModelPortaliQ2YD98
SMRiQ2YD98
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121689, 12 interactors
IntActiQ2YD98, 5 interactors
MINTiQ2YD98
STRINGi9606.ENSP00000374501

PTM databases

iPTMnetiQ2YD98
PhosphoSitePlusiQ2YD98

Polymorphism and mutation databases

BioMutaiUVSSA
DMDMi296434546

Proteomic databases

EPDiQ2YD98
MaxQBiQ2YD98
PaxDbiQ2YD98
PeptideAtlasiQ2YD98
PRIDEiQ2YD98
ProteomicsDBi61547
61548 [Q2YD98-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000389851; ENSP00000374501; ENSG00000163945 [Q2YD98-1]
ENST00000507531; ENSP00000421741; ENSG00000163945 [Q2YD98-1]
ENST00000511216; ENSP00000425130; ENSG00000163945 [Q2YD98-1]
ENST00000511563; ENSP00000423340; ENSG00000163945 [Q2YD98-2]
ENST00000512728; ENSP00000427701; ENSG00000163945 [Q2YD98-2]
GeneIDi57654
KEGGihsa:57654
UCSCiuc003gde.5 human [Q2YD98-1]

Organism-specific databases

CTDi57654
DisGeNETi57654
EuPathDBiHostDB:ENSG00000163945.15
GeneCardsiUVSSA
HGNCiHGNC:29304 UVSSA
HPAiHPA050824
HPA053496
MalaCardsiUVSSA
MIMi614632 gene
614640 phenotype
neXtProtiNX_Q2YD98
OpenTargetsiENSG00000163945
Orphaneti178338 UV-sensitive syndrome
PharmGKBiPA162393105
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2374 Eukaryota
ENOG410XP15 LUCA
GeneTreeiENSGT00390000000377
HOGENOMiHOG000060117
HOVERGENiHBG076421
InParanoidiQ2YD98
OMAiYEPHIPD
OrthoDBiEOG091G054F
PhylomeDBiQ2YD98
TreeFamiTF321660

Enzyme and pathway databases

ReactomeiR-HSA-6781823 Formation of TC-NER Pre-Incision Complex
R-HSA-6781827 Transcription-Coupled Nucleotide Excision Repair (TC-NER)
R-HSA-6782135 Dual incision in TC-NER
R-HSA-6782210 Gap-filling DNA repair synthesis and ligation in TC-NER

Miscellaneous databases

ChiTaRSiUVSSA human
GeneWikiiKIAA1530
GenomeRNAii57654
PROiPR:Q2YD98
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000163945 Expressed in 199 organ(s), highest expression level in oviduct epithelium
CleanExiHS_KIAA1530
ExpressionAtlasiQ2YD98 baseline and differential
GenevisibleiQ2YD98 HS

Family and domain databases

InterProiView protein in InterPro
IPR018610 UVSSA
PANTHERiPTHR28670 PTHR28670, 1 hit
PfamiView protein in Pfam
PF09740 DUF2043, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiUVSSA_HUMAN
AccessioniPrimary (citable) accession number: Q2YD98
Secondary accession number(s): A8K9E6
, B2RU11, Q8WTX4, Q9P1Z8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 5, 2008
Last sequence update: May 18, 2010
Last modified: November 7, 2018
This is version 101 of the entry and version 2 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 chromosome 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
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