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Q2YD98

- UVSSA_HUMAN

UniProt

Q2YD98 - UVSSA_HUMAN

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Protein

UV-stimulated scaffold protein A

Gene

UVSSA

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- 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

  1. RNA polymerase II core binding Source: UniProtKB

GO - Biological processi

  1. protein ubiquitination Source: UniProtKB
  2. response to UV Source: UniProtKB
  3. transcription-coupled nucleotide-excision repair Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

DNA damage, DNA repair

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
ProteomesiUP000005640: Chromosome 4

Organism-specific databases

HGNCiHGNC:29304. UVSSA.

Subcellular locationi

Chromosome 2 Publications
Note: Accumulates at UV DNA damage sites.

GO - Cellular componenti

  1. chromosome Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Chromosome

Pathology & Biotechi

Involvement in diseasei

UV-sensitive syndrome 3 (UVSS3) [MIM:614640]: An autosomal recessive disorder characterized by cutaneous photosensitivity and slight dyspigmentation, without an increased risk of skin tumors.3 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti32 – 321C → R in UVSS3; mild phenotype; impairs transcription-coupled nucleotide excision repair ability. 1 Publication
VAR_067798

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi120 – 1201W → A: Impairs transcription-coupled nucleotide excision repair ability. 1 Publication
Mutagenesisi157 – 1593RKR → EEE: Impairs transcription-coupled nucleotide excision repair ability. 1 Publication

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi614640. phenotype.
Orphaneti178338. UV-sensitive syndrome.
PharmGKBiPA162393105.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 709709UV-stimulated scaffold protein APRO_0000317282Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei281 – 2811Phosphoserine1 Publication
Modified residuei287 – 2871Phosphoserine1 Publication

Post-translational modificationi

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

Keywords - PTMi

Phosphoprotein, Ubl conjugation

Proteomic databases

MaxQBiQ2YD98.
PaxDbiQ2YD98.
PRIDEiQ2YD98.

PTM databases

PhosphoSiteiQ2YD98.

Expressioni

Gene expression databases

BgeeiQ2YD98.
CleanExiHS_KIAA1530.
ExpressionAtlasiQ2YD98. baseline and differential.
GenevestigatoriQ2YD98.

Organism-specific databases

HPAiHPA050824.

Interactioni

Subunit structurei

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

Protein-protein interaction databases

BioGridi121689. 11 interactions.
STRINGi9606.ENSP00000374501.

Structurei

3D structure databases

ProteinModelPortaliQ2YD98.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni2 – 145144VHS-likeAdd
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili165 – 19935Sequence AnalysisAdd
BLAST

Sequence similaritiesi

Belongs to the UVSSA family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiNOG313134.
GeneTreeiENSGT00390000000377.
HOGENOMiHOG000060117.
HOVERGENiHBG076421.
InParanoidiQ2YD98.
OMAiRMDQKKH.
OrthoDBiEOG7X0VHQ.
PhylomeDBiQ2YD98.
TreeFamiTF321660.

Family and domain databases

InterProiIPR018610. DUF2043.
[Graphical view]
PfamiPF09740. DUF2043. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

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

Sequence cautioni

The sequence BAA96054.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti32 – 321C → R in UVSS3; mild phenotype; impairs transcription-coupled nucleotide excision repair ability. 1 Publication
VAR_067798
Natural varianti391 – 3911R → H.
Corresponds to variant rs2276904 [ dbSNP | Ensembl ].
VAR_038499
Natural varianti620 – 6201P → L.3 Publications
Corresponds to variant rs28522910 [ dbSNP | Ensembl ].
VAR_038500

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 449449Missing in isoform 2. 2 PublicationsVSP_030932Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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_065945.2. NM_020894.2. [Q2YD98-1]
XP_005272347.1. XM_005272290.2. [Q2YD98-1]
XP_006713960.1. XM_006713897.1. [Q2YD98-1]
UniGeneiHs.380475.

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.4. human. [Q2YD98-1]
uc010ibv.3. human. [Q2YD98-2]

Polymorphism databases

DMDMi296434546.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS33938.1. [Q2YD98-1 ]
RefSeqi NP_065945.2. NM_020894.2. [Q2YD98-1 ]
XP_005272347.1. XM_005272290.2. [Q2YD98-1 ]
XP_006713960.1. XM_006713897.1. [Q2YD98-1 ]
UniGenei Hs.380475.

3D structure databases

ProteinModelPortali Q2YD98.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 121689. 11 interactions.
STRINGi 9606.ENSP00000374501.

PTM databases

PhosphoSitei Q2YD98.

Polymorphism databases

DMDMi 296434546.

Proteomic databases

MaxQBi Q2YD98.
PaxDbi Q2YD98.
PRIDEi Q2YD98.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000389851 ; ENSP00000374501 ; ENSG00000163945 . [Q2YD98-1 ]
ENST00000507531 ; ENSP00000421741 ; ENSG00000163945 . [Q2YD98-1 ]
ENST00000511216 ; ENSP00000425130 ; ENSG00000163945 . [Q2YD98-1 ]
ENST00000511563 ; ENSP00000423340 ; ENSG00000163945 . [Q2YD98-2 ]
ENST00000512728 ; ENSP00000427701 ; ENSG00000163945 . [Q2YD98-2 ]
GeneIDi 57654.
KEGGi hsa:57654.
UCSCi uc003gde.4. human. [Q2YD98-1 ]
uc010ibv.3. human. [Q2YD98-2 ]

Organism-specific databases

CTDi 57654.
GeneCardsi GC04P001341.
HGNCi HGNC:29304. UVSSA.
HPAi HPA050824.
MIMi 614632. gene.
614640. phenotype.
neXtProti NX_Q2YD98.
Orphaneti 178338. UV-sensitive syndrome.
PharmGKBi PA162393105.
HUGEi Search...
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG313134.
GeneTreei ENSGT00390000000377.
HOGENOMi HOG000060117.
HOVERGENi HBG076421.
InParanoidi Q2YD98.
OMAi RMDQKKH.
OrthoDBi EOG7X0VHQ.
PhylomeDBi Q2YD98.
TreeFami TF321660.

Miscellaneous databases

GeneWikii KIAA1530.
GenomeRNAii 57654.
NextBioi 64404.
PROi Q2YD98.
SOURCEi Search...

Gene expression databases

Bgeei Q2YD98.
CleanExi HS_KIAA1530.
ExpressionAtlasi Q2YD98. baseline and differential.
Genevestigatori Q2YD98.

Family and domain databases

InterProi IPR018610. DUF2043.
[Graphical view ]
Pfami PF09740. DUF2043. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
    Nagase T., Kikuno R., Ishikawa K., Hirosawa M., Ohara O.
    DNA Res. 7:143-150(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT LEU-620.
    Tissue: Brain.
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANT LEU-620.
    Tissue: Thymus.
  3. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
    Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
    , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
    Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "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] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), VARIANT LEU-620.
    Tissue: Duodenum, Lung and Skin.
  5. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  6. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
    Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
    Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-281 AND SER-287, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Leukemic T-cell.
  7. "Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair."
    Nakazawa Y., Sasaki K., Mitsutake N., Matsuse M., Shimada M., Nardo T., Takahashi Y., Ohyama K., Ito K., Mishima H., Nomura M., Kinoshita A., Ono S., Takenaka K., Masuyama R., Kudo T., Slor H., Utani A.
    , Tateishi S., Yamashita S., Stefanini M., Lehmann A.R., Yoshiura K.I., Ogi T.
    Nat. Genet. 44:586-592(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, INVOLVEMENT IN UVSS3, MUTAGENESIS OF TRP-120 AND 157-ARG--ARG-159, VARIANT UVSS3 ARG-32, CHARACTERIZATION OF VARIANT UVSS3 ARG-32.
  8. Cited for: FUNCTION, INVOLVEMENT IN UVSS3, SUBCELLULAR LOCATION, UBIQUITINATION, INTERACTION WITH USP7.
  9. "Mutations in UVSSA cause UV-sensitive syndrome and destabilize ERCC6 in transcription-coupled DNA repair."
    Zhang X., Horibata K., Saijo M., Ishigami C., Ukai A., Kanno S.I., Tahara H., Neilan E.G., Honma M., Nohmi T., Yasui A., Tanaka K.
    Nat. Genet. 44:593-597(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, INVOLVEMENT IN UVSS3, SUBCELLULAR LOCATION, INTERACTION WITH ERCC6; ERCC8 AND USP7.

Entry informationi

Entry nameiUVSSA_HUMAN
AccessioniPrimary (citable) accession number: Q2YD98
Secondary accession number(s): A8K9E6
, B2RU11, Q8WTX4, Q9P1Z8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 5, 2008
Last sequence update: May 18, 2010
Last modified: October 29, 2014
This is version 69 of the entry and version 2 of the sequence. [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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  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. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3