KIAA1530

Last updated
UVSSA
Identifiers
Aliases UVSSA , KIAA1530, UVSS3, UV stimulated scaffold protein A
External IDs MGI: 1918351 HomoloGene: 13807 GeneCards: UVSSA
Gene location (Human)
Ideogram human chromosome 4.svg
Chr. Chromosome 4 (human) [1]
Human chromosome 4 ideogram.svg
HSR 1996 II 3.5e.svg
Red rectangle 2x18.png
Band 4p16.3Start1,347,266 bp [1]
End1,395,992 bp [1]
Orthologs
SpeciesHumanMouse
Entrez

57654

71101

Ensembl

ENSG00000163945

ENSMUSG00000037355

UniProt

Q2YD98

Q9D479

RefSeq (mRNA)

NM_020894
NM_001317934
NM_001317935

NM_001081101
NM_027674

RefSeq (protein)

NP_001304863
NP_001304864
NP_065945

NP_001074570
NP_081950

Location (UCSC) Chr 4: 1.35 – 1.4 Mb Chr 5: 33.38 – 33.42 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

KIAA1530 is a protein that in humans that is encoded by the KIAA1530 gene, also known as UVSSA. [5] Mutations in this gene have been identified to cause the UV-sensitive syndrome and recently, its important role in Transcription-coupled repair has been identified. [6]

Protein Biological molecule consisting of chains of amino acid residues

Proteins are large biomolecules, or macromolecules, consisting of one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, responding to stimuli, providing structure to cells and organisms, and transporting molecules from one location to another. Proteins differ from one another primarily in their sequence of amino acids, which is dictated by the nucleotide sequence of their genes, and which usually results in protein folding into a specific three-dimensional structure that determines its activity.

Gene Basic physical and functional unit of heredity

In biology, a gene is a sequence of nucleotides in DNA or RNA that codes for a molecule that has a function. During gene expression, the DNA is first copied into RNA. The RNA can be directly functional or be the intermediate template for a protein that performs a function. The transmission of genes to an organism's offspring is the basis of the inheritance of phenotypic trait. These genes make up different DNA sequences called genotypes. Genotypes along with environmental and developmental factors determine what the phenotypes will be. Most biological traits are under the influence of polygenes as well as gene–environment interactions. Some genetic traits are instantly visible, such as eye color or number of limbs, and some are not, such as blood type, risk for specific diseases, or the thousands of basic biochemical processes that constitute life.

UV-sensitive syndrome autosomal recessive disease characterized by photosensitivity and liver spots (solar lentigines)

UV-sensitive syndrome is a cutaneous condition inherited in an autosomal recessive fashion, characterized by photosensitivity and solar lentigines. Recent research identified that mutations of the KIAA1530 (UVSSA) gene as cause for the development of UV-sensitive syndrome. Furthermore, this protein was identified as a new player in the Transcription-coupled repair (TC-NER).

Contents

Clinical relevance

Mutations in this gene cause UV-sensitive syndrome. [7]

Related Research Articles

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References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000163945 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000037355 - Ensembl, May 2017
  3. ↑ "Human PubMed Reference:".
  4. ↑ "Mouse PubMed Reference:".
  5. ↑ "Entrez Gene: KIAA1530" . Retrieved 2012-05-07.
  6. ↑ Schwertman P, Lagarou A, Dekkers DH, Raams A, van der Hoek AC, Laffeber C, Hoeijmakers JH, Demmers JA, Fousteri M, Vermeulen W, Marteijn JA (May 2012). "UV-sensitive syndrome protein UVSSA recruits USP7 to regulate transcription-coupled repair". Nat. Genet. 44 (5): 598–602. doi:10.1038/ng.2230. PMID   22466611.
  7. ↑ Zhang X, Horibata K, Saijo M, Ishigami C, Ukai A, Kanno S, Tahara H, Neilan EG, Honma M, Nohmi T, Yasui A, Tanaka K (May 2012). "Mutations in UVSSA cause UV-sensitive syndrome and destabilize ERCC6 in transcription-coupled DNA repair". Nat. Genet. 44 (5): 593–7. doi:10.1038/ng.2228. PMID   22466612.

Further reading

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