RNU4-1

gene
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Also known as U4BLU4

Summary

RNU4-1 (RNA, U4 small nuclear 1, HGNC:10192) is a small nuclear RNA gene on chromosome 12q24.31.

Predicted to enable U6 snRNA binding activity. Predicted to be involved in formation of quadruple SL/U4/U5/U6 snRNP and spliceosomal tri-snRNP complex assembly. Predicted to be part of U4 snRNP and U4/U6 x U5 tri-snRNP complex.

Source: NCBI Gene 26835 — RefSeq curated summary.

At a glance

  • Gene type: non-coding (snRNA) — no protein product; not a drug target. Variant/disease associations are omitted (they would be positional, from an overlapping protein-coding gene).

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:10192
Approved symbolRNU4-1
NameRNA, U4 small nuclear 1
Location12q24.31
Locus typeRNA, small nuclear
StatusApproved
AliasesU4BL, U4
Ensembl geneENSG00000200795
Ensembl biotypesnRNA
OMIM620822
Entrez26835
RNAcentralURS00003F07BD — snRNA, 144 nt, 2 organism(s)

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 snRNA

ENST00000363925

RefSeq mRNA: 0 — MANE Select: None

Canonical transcript exons

ENST00000363925 — 1 exons

ExonStartEnd
ENSE00001808090120293093120293237

Expression profiles

Bgee: expression breadth ubiquitous, 102 present calls, max score 99.90.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 96.6887 / max 3253.2496, expressed in 1536 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter IDTPM avgSamples expressed
13362496.68871536

Top tissues by expression

102 total, by Bgee expression score (0-100, higher = more expressed):

TissueAnatomy IDExpression scoreQuality
adrenal tissueUBERON:001830399.90gold quality
sural nerveUBERON:001548899.36gold quality
bloodUBERON:000017883.83gold quality
corpus callosumUBERON:000233682.75gold quality
kidneyUBERON:000211381.72gold quality
calcaneal tendonUBERON:000370180.63gold quality
monocyteCL:000057680.07gold quality
islet of LangerhansUBERON:000000679.64gold quality
liverUBERON:000210779.24gold quality
olfactory segment of nasal mucosaUBERON:000538679.01gold quality
lungUBERON:000204876.24gold quality
adult mammalian kidneyUBERON:000008275.88gold quality
stomachUBERON:000094575.42gold quality
right testisUBERON:000453475.29gold quality
body of pancreasUBERON:000115074.63gold quality
left testisUBERON:000453374.38gold quality
lymph nodeUBERON:000002974.24gold quality
testisUBERON:000047374.23gold quality
fundus of stomachUBERON:000116074.10gold quality
heartUBERON:000094873.51gold quality
bone marrowUBERON:000237173.08gold quality
muscle of legUBERON:000138372.73gold quality
granulocyteCL:000009472.52gold quality
duodenumUBERON:000211471.15gold quality
gastrocnemiusUBERON:000138871.10gold quality
adrenal glandUBERON:000236971.01gold quality
endometriumUBERON:000129570.49gold quality
myometriumUBERON:000129670.04gold quality
heart left ventricleUBERON:000208470.03gold quality
multicellular organismUBERON:000046869.88gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

ExperimentMarker?Max mean expression
E-ANND-3yes3.49

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 3)

  • NMR structure of the 3’ stem-loop from U4 snRNA (PMID:12384583)
  • mutant U4 snRNA designed to base pair with a mutant U6atac snRNA can activate U12-dependent splicing (PMID:14691257)
  • Inhibition of U4 snRNA in human cells causes the stable retention of polyadenylated pre-mRNA in the nucleus. (PMID:24796696)

Cross-species orthologs

0 orthologs

Protein

Non-coding RNA — no protein product; not a drug target.

Function

No curated pathway, Gene-Ontology, or interaction data.

Disease & clinical

No curated disease, variant, or cancer-driver associations.

Drugs & pharmacology

No drug or pharmacology data — not an established drug target.

  • Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): gastroesophageal reflux disease