Jump to content

RNU4ATAC

From Wikipedia, the free encyclopedia
RNU4ATAC
Identifiers
AliasesRNU4ATAC, MOPD1, RNU4ATAC1, TALS, U4ATAC, RFMN, RNA, U4atac small nuclear (U12-dependent splicing), LWS, U4atac
External IDsOMIM: 601428; GeneCards: RNU4ATAC; OMA:RNU4ATAC - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

n/a

n/a

RefSeq (protein)

n/a

n/a

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

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

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

[edit]

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

[edit]

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

[edit]
  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000264229Ensembl, May 2017
  2. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  3. ^ a b "Entrez Gene: RNA, U4atac small nuclear (U12-dependent splicing)". Retrieved 2012-04-15.

Further reading

[edit]