RNU4ATAC

RNA, U4atac small nuclear (U12-dependent splicing) is a small nuclear RNA that in humans is encoded by the RNU4ATAC gene.[3]

RNU4ATAC
Identifiers
AliasesRNU4ATAC, MOPD1, RNU4ATAC1, TALS, U4ATAC, RFMN, RNA, U4atac small nuclear (U12-dependent splicing)
External IDsOMIM: 601428 GeneCards: RNU4ATAC
Gene location (Human)
Chr.Chromosome 2 (human)[1]
Band2q14.2Start121,530,881 bp[1]
End121,531,007 bp[1]
Orthologs
SpeciesHumanMouse
Entrez

100151683

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Ensembl

ENSG00000264229

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)Chr 2: 121.53 – 121.53 Mbn/a
PubMed search[2]n/a
Wikidata
View/Edit Human

The small nuclear RNA (snRNA) encoded by this gene is part of the U12-dependent minor spliceosome complex. In addition to the encoded RNA, this ribonucleoprotein complex consists of U11, U12, U5, and U6atac snRNAs. The U12-dependent spliceosome is required for the splicing of approximately 700 specific introns in the human genome.

Genomics

The RNU4ATAC gene is located on chromosome 2 (2q14.2). It is a single copy gene that is embedded within an intron of the protein coding CLASP1 gene but is transcribed in the antisense direction from CLASP1.

Clinical importance

Defects in this gene are a cause of several human inherited syndromes all of which show autosomal recessive inheritance. These include Taybi Linder syndrome (microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1), Roifman syndrome and Lowry-Wood syndrome.[3]

References
  1. GRCh38: Ensembl release 89: ENSG00000264229 - Ensembl, May 2017
  2. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  3. "Entrez Gene: RNA, U4atac small nuclear (U12-dependent splicing)". Retrieved 2012-04-15.

Further reading


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