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UVSSA UV-stimulated scaffold protein A [ Homo sapiens (human) ]

Gene ID: 57654, updated on 26-Aug-2014
Official Symbol
UVSSAprovided by HGNC
Official Full Name
UV-stimulated scaffold protein Aprovided by HGNC
Primary source
HGNC:29304
See related
Ensembl:ENSG00000163945; HPRD:17216; MIM:614632; Vega:OTTHUMG00000160167
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
UVSS3; KIAA1530
Summary
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 to help repair UV-induced DNA damage. Defects in this gene can cause UV-sensitive syndrome 3. [provided by RefSeq, May 2012]
See UVSSA in Epigenomics, MapViewer
Location:
4p16.3
Exon count:
16
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 4 NC_000004.12 (1347255..1388049)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (1341043..1381837)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene macrophage erythroblast attacher Neighboring gene uncharacterized LOC101928676 Neighboring gene mucin-12-like Neighboring gene cysteine-rich PAK1 inhibitor Neighboring gene serine/arginine repetitive matrix protein 2-like

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
UV-sensitive syndrome 3
MedGen: CN124930 OMIM: 614640 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Joint influence of small-effect genetic variants on human longevity.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • KIAA1530, MGC117169

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA polymerase II core binding IDA
Inferred from Direct Assay
more info
 
RNA polymerase II core binding IMP
Inferred from Mutant Phenotype
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
 
Process Evidence Code Pubs
protein ubiquitination IMP
Inferred from Mutant Phenotype
more info
 
response to UV IMP
Inferred from Mutant Phenotype
more info
 
transcription-coupled nucleotide-excision repair IMP
Inferred from Mutant Phenotype
more info
 
Component Evidence Code Pubs
chromosome IDA
Inferred from Direct Assay
more info
 
Preferred Names
UV-stimulated scaffold protein A
Names
UV-stimulated scaffold protein A

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_032753.1 

    Range
    5001..45734
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_020894.2NP_065945.2  UV-stimulated scaffold protein A

    See proteins identical to NP_065945.2

    Status: REVIEWED

    Source sequence(s)
    AB040963, AC078852, AC118281, BC110331, EL735271
    Consensus CDS
    CCDS33938.1
    UniProtKB/Swiss-Prot
    Q2YD98
    Related
    ENSP00000374501, OTTHUMP00000217693, ENST00000389851, OTTHUMT00000359480
    Conserved Domains (1) summary
    pfam09740
    Location:495605
    Blast Score: 549
    DUF2043; Uncharacterized conserved protein (DUF2043)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000004.12 

    Range
    1347255..1388049
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006713897.1XP_006713960.1  

    See proteins identical to XP_006713960.1

    UniProtKB/Swiss-Prot
    Q2YD98
    Related
    ENSP00000425130, OTTHUMP00000217694, ENST00000511216, OTTHUMT00000359481
    Conserved Domains (1) summary
    pfam09740
    Location:495605
    Blast Score: 549
    DUF2043; Uncharacterized conserved protein (DUF2043)
  2. XM_005272290.2XP_005272347.1  

    See proteins identical to XP_005272347.1

    UniProtKB/Swiss-Prot
    Q2YD98
    Related
    ENSP00000421741, OTTHUMP00000217695, ENST00000507531, OTTHUMT00000359482
    Conserved Domains (1) summary
    pfam09740
    Location:495605
    Blast Score: 549
    DUF2043; Uncharacterized conserved protein (DUF2043)
  3. XM_006713898.1XP_006713961.1  

    See proteins identical to XP_006713961.1

    Conserved Domains (1) summary
    pfam09740
    Location:495586
    Blast Score: 422
    DUF2043; Uncharacterized conserved protein (DUF2043)
  4. XM_006713899.1XP_006713962.1  

    See proteins identical to XP_006713962.1

    Conserved Domains (1) summary
    pfam09740
    Location:495586
    Blast Score: 422
    DUF2043; Uncharacterized conserved protein (DUF2043)

Alternate HuRef

Genomic

  1. AC_000136.1 

    Range
    1308628..1349495
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018915.2 

    Range
    1340917..1381652
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)