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

Gene ID: 57654, updated on 22-Aug-2020

Summary

Official Symbol
UVSSAprovided by HGNC
Official Full Name
UV stimulated scaffold protein Aprovided by HGNC
Primary source
HGNC:HGNC:29304
See related
Ensembl:ENSG00000163945 MIM:614632
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, 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]
Expression
Ubiquitous expression in testis (RPKM 2.2), spleen (RPKM 1.5) and 25 other tissues See more
Orthologs

Genomic context

See UVSSA in Genome Data Viewer
Location:
4p16.3
Exon count:
27
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (1341998..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 uncharacterized LOC105374347 Neighboring gene uncharacterized LOC105374346 Neighboring gene macrophage erythroblast attacher, E3 ubiquitin ligase Neighboring gene Sharpr-MPRA regulatory region 8056 Neighboring gene Sharpr-MPRA regulatory region 3424 Neighboring gene NK1 homeobox 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Joint influence of small-effect genetic variants on human longevity.
GeneReviews: Not available
UV-sensitive syndrome 3
MedGen: C3553328 OMIM: 614640 GeneReviews: Not available
Compare labs

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA1530, MGC117169, AC078852.1

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA polymerase II complex binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
RNA polymerase II complex binding IDA
Inferred from Direct Assay
more info
PubMed 
RNA polymerase II complex binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
protein ubiquitination IMP
Inferred from Mutant Phenotype
more info
PubMed 
response to UV IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
response to UV IMP
Inferred from Mutant Phenotype
more info
PubMed 
transcription-coupled nucleotide-excision repair IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transcription-coupled nucleotide-excision repair IMP
Inferred from Mutant Phenotype
more info
PubMed 
transcription-coupled nucleotide-excision repair TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
chromosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
chromosome IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
UV-stimulated scaffold protein A

NCBI Reference Sequences (RefSeq)

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 RefSeqGene

    Range
    4893..45734
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001317934.2NP_001304863.1  UV-stimulated scaffold protein A

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.
    Source sequence(s)
    AC078852, AL390128, BC021930, BC110331
    Consensus CDS
    CCDS33938.1
    UniProtKB/Swiss-Prot
    Q2YD98
    UniProtKB/TrEMBL
    Q69YU2
    Related
    ENSP00000425130.1, ENST00000511216.6
    Conserved Domains (1) summary
    pfam09740
    Location:498601
    DUF2043; Uncharacterized conserved protein (DUF2043)
  2. NM_001317935.2NP_001304864.1  UV-stimulated scaffold protein A

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.
    Source sequence(s)
    AC078852, AL390128, BC021930, BC110331, HY104489
    Consensus CDS
    CCDS33938.1
    UniProtKB/Swiss-Prot
    Q2YD98
    UniProtKB/TrEMBL
    Q69YU2
    Related
    ENSP00000421741.1, ENST00000507531.5
    Conserved Domains (1) summary
    pfam09740
    Location:498601
    DUF2043; Uncharacterized conserved protein (DUF2043)
  3. NM_020894.4NP_065945.2  UV-stimulated scaffold protein A

    See identical proteins and their annotated locations for NP_065945.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2 and 3 encode the same protein.
    Source sequence(s)
    AB040963, AC078852, AL390128, BC021930, BC110331, EL735271
    Consensus CDS
    CCDS33938.1
    UniProtKB/Swiss-Prot
    Q2YD98
    UniProtKB/TrEMBL
    Q69YU2
    Related
    ENSP00000374501.4, ENST00000389851.10
    Conserved Domains (1) summary
    pfam09740
    Location:498601
    DUF2043; Uncharacterized conserved protein (DUF2043)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    1341998..1388049
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017008493.2XP_016863982.1  UV-stimulated scaffold protein A isoform X1

    UniProtKB/Swiss-Prot
    Q2YD98
    Conserved Domains (1) summary
    pfam09740
    Location:498601
    DUF2043; Uncharacterized conserved protein (DUF2043)
  2. XM_017008496.1XP_016863985.1  UV-stimulated scaffold protein A isoform X3

  3. XM_017008497.2XP_016863986.1  UV-stimulated scaffold protein A isoform X4

  4. XM_017008499.1XP_016863988.1  UV-stimulated scaffold protein A isoform X6

  5. XM_017008494.2XP_016863983.1  UV-stimulated scaffold protein A isoform X1

    UniProtKB/Swiss-Prot
    Q2YD98
    Conserved Domains (1) summary
    pfam09740
    Location:498601
    DUF2043; Uncharacterized conserved protein (DUF2043)
  6. XM_017008490.1XP_016863979.1  UV-stimulated scaffold protein A isoform X1

    UniProtKB/Swiss-Prot
    Q2YD98
    Conserved Domains (1) summary
    pfam09740
    Location:498601
    DUF2043; Uncharacterized conserved protein (DUF2043)
  7. XM_017008492.2XP_016863981.1  UV-stimulated scaffold protein A isoform X1

    UniProtKB/Swiss-Prot
    Q2YD98
    Conserved Domains (1) summary
    pfam09740
    Location:498601
    DUF2043; Uncharacterized conserved protein (DUF2043)
  8. XM_017008491.1XP_016863980.1  UV-stimulated scaffold protein A isoform X1

    UniProtKB/Swiss-Prot
    Q2YD98
    Conserved Domains (1) summary
    pfam09740
    Location:498601
    DUF2043; Uncharacterized conserved protein (DUF2043)
  9. XM_017008498.2XP_016863987.1  UV-stimulated scaffold protein A isoform X5

  10. XM_017008495.2XP_016863984.1  UV-stimulated scaffold protein A isoform X2

  11. XM_024454162.1XP_024309930.1  UV-stimulated scaffold protein A isoform X8

    Related
    ENSP00000423340.1, ENST00000511563.5
    Conserved Domains (1) summary
    pfam09740
    Location:49152
    DUF2043; Uncharacterized conserved protein (DUF2043)
  12. XM_017008500.1XP_016863989.1  UV-stimulated scaffold protein A isoform X7

RNA

  1. XR_001741304.1 RNA Sequence

  2. XR_001741303.1 RNA Sequence

  3. XR_001741302.1 RNA Sequence

  4. XR_001741305.1 RNA Sequence

  5. XR_001741299.1 RNA Sequence

  6. XR_001741301.1 RNA Sequence

  7. XR_001741300.1 RNA Sequence

  8. XR_001741298.1 RNA Sequence

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