Seroatlas · Human Serome Atlas

UVSSA

UV-stimulated scaffold protein A

Also known as: KIAA1530, UVSSA_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q2YD98
Gene: UVSSA
Ensembl: ENSG00000163945
Chromosome: 4
Canonical length: 709 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Nucleoplasm

OverviewNCBI Gene

The protein encoded by this gene appears to be involved in ubiquitination and dephosphorylation of RNA polymerase II subunits that stall after UV irradiation. The encoded protein interacts with several members of the nucleotide excision repair complex, and is thought to be involved in the transcription-coupled nucleotide excision repair (TC-NER) pathway to help remove lesions in the DNA that block transcription. Defects in this gene can cause UV-sensitive syndrome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]

Canonical amino-acid sequenceUniProt

709 residues, UniProt reviewed canonical sequence.

>Q2YD98|UVSSA
     1  MDQKLSKLVE ELTTSGEPRL NPEKMKELKK ICKSSEEQLS RAYRLLIAQL TQEHAEIRLS
    61  AFQIVEELFV RSHQFRMLVV SNFQEFLELT LGTDPAQPLP PPREAAQRLR QATTRAVEGW
   121  NEKFGEAYKK LALGYHFLRH NKKVDFQDTN ARSLAERKRE EEKQKHLDKI YQERASQAER
   181  EMQEMSGEIE SCLTEVESCF RLLVPFDFDP NPETESLGMA SGMSDALRSS CAGQVGPCRS
   241  GTPDPRDGEQ PCCSRDLPAS AGHPRAGGGA QPSQTATGDP SDEDEDSDLE EFVRSHGLGS
   301  HKYTLDVELC SEGLKVQENE DNLALIHAAR DTLKLIRNKF LPAVCSWIQR FTRVGTHGGC
   361  LKRAIDLKAE LELVLRKYKE LDIEPEGGER RRTEALGDAE EDEDDEDFVE VPEKEGYEPH
   421  IPDHLRPEYG LEAAPEKDTV VRCLRTRTRM DEEVSDPTSA AAQLRQLRDH LPPPSSASPS
   481  RALPEPQEAQ KLAAERARAP VVPYGVDLHY WGQELPTAGK IVKSDSQHRF WKPSEVEEEV
   541  VNADISEMLR SRHITFAGKF EPVQHWCRAP RPDGRLCERQ DRLKCPFHGK IVPRDDEGRP
   601  LDPEDRAREQ RRQLQKQERP EWQDPELMRD VEAATGQDLG SSRYSGKGRG KKRRYPSLTN
   661  LKAQADTARA RIGRKVFAKA AVRRVVAAMN RMDQKKHEKF SNQFNYALN

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against UVSSA 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): 0.46
Highest tissue expression: 17 nTPM

Expression across tissuesHPA

Tissue

pituitary gland: 17 nTPM
testis: 12 nTPM
thyroid gland: 10 nTPM
spleen: 9.3 nTPM
pancreas: 9.2 nTPM
skin: 8.8 nTPM

Single-cell type

somatotrophs: 195 nCPM
lactotrophs: 140 nCPM
thyrotrophs: 103 nCPM
corticotrophs: 101 nCPM
thymocytes: 84 nCPM
neutrophils: 81 nCPM

Immune cell

NK-cell: 3.3 nTPM
myeloid DC: 1 nTPM
neutrophil: 1 nTPM
eosinophil: 0.9 nTPM
non-classical monocyte: 0.8 nTPM
plasmacytoid DC: 0.8 nTPM

Brain region

white matter: 23 nTPM
medulla oblongata: 19 nTPM
cerebral cortex: 19 nTPM
choroid plexus: 19 nTPM
thalamus: 19 nTPM
pons: 17 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about UVSSA.

Disease | AllUniProt

Conditions UVSSA is implicated in, by any mechanism.

UV-sensitive syndrome 3 (UVSS3) MIM:614640

Disease | GeneticClinVar

13 pathogenic / likely-pathogenic of 237 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

UV-sensitive syndrome 3

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): 1.48
gnomAD pLI: 0
gnomAD missense Z: -2.03
DepMap mean gene effect: -0.09
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

ENTH/VHS
UV-stimulated scaffold protein A
UV-stimulated scaffold protein A, N-terminal alpha-solenoid repeats
UV-stimulated scaffold protein A, C-terminal domain
Uncharacterized conserved protein (DUF2043)
UVSSA N-terminal domain

KeywordsUniProt

InteractionsUniProt · HPA

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

UVSSA 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 UVSSA as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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