RNU4-1
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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
| Field | Value |
|---|---|
| HGNC ID | HGNC:10192 |
| Approved symbol | RNU4-1 |
| Name | RNA, U4 small nuclear 1 |
| Location | 12q24.31 |
| Locus type | RNA, small nuclear |
| Status | Approved |
| Aliases | U4BL, U4 |
| Ensembl gene | ENSG00000200795 |
| Ensembl biotype | snRNA |
| OMIM | 620822 |
| Entrez | 26835 |
| RNAcentral | URS00003F07BD — 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
| Exon | Start | End |
|---|---|---|
| ENSE00001808090 | 120293093 | 120293237 |
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 ID | TPM avg | Samples expressed |
|---|---|---|
| 133624 | 96.6887 | 1536 |
Top tissues by expression
102 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| adrenal tissue | UBERON:0018303 | 99.90 | gold quality |
| sural nerve | UBERON:0015488 | 99.36 | gold quality |
| blood | UBERON:0000178 | 83.83 | gold quality |
| corpus callosum | UBERON:0002336 | 82.75 | gold quality |
| kidney | UBERON:0002113 | 81.72 | gold quality |
| calcaneal tendon | UBERON:0003701 | 80.63 | gold quality |
| monocyte | CL:0000576 | 80.07 | gold quality |
| islet of Langerhans | UBERON:0000006 | 79.64 | gold quality |
| liver | UBERON:0002107 | 79.24 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 79.01 | gold quality |
| lung | UBERON:0002048 | 76.24 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 75.88 | gold quality |
| stomach | UBERON:0000945 | 75.42 | gold quality |
| right testis | UBERON:0004534 | 75.29 | gold quality |
| body of pancreas | UBERON:0001150 | 74.63 | gold quality |
| left testis | UBERON:0004533 | 74.38 | gold quality |
| lymph node | UBERON:0000029 | 74.24 | gold quality |
| testis | UBERON:0000473 | 74.23 | gold quality |
| fundus of stomach | UBERON:0001160 | 74.10 | gold quality |
| heart | UBERON:0000948 | 73.51 | gold quality |
| bone marrow | UBERON:0002371 | 73.08 | gold quality |
| muscle of leg | UBERON:0001383 | 72.73 | gold quality |
| granulocyte | CL:0000094 | 72.52 | gold quality |
| duodenum | UBERON:0002114 | 71.15 | gold quality |
| gastrocnemius | UBERON:0001388 | 71.10 | gold quality |
| adrenal gland | UBERON:0002369 | 71.01 | gold quality |
| endometrium | UBERON:0001295 | 70.49 | gold quality |
| myometrium | UBERON:0001296 | 70.04 | gold quality |
| heart left ventricle | UBERON:0002084 | 70.03 | gold quality |
| multicellular organism | UBERON:0000468 | 69.88 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 3.49 |
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.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): gastroesophageal reflux disease