RNU1-4

Summary

RNU1-4 (RNA, U1 small nuclear 4, HGNC:10128) is a small nuclear RNA gene on chromosome 1p36.1.

Predicted to enable pre-mRNA 5’-splice site binding activity. Predicted to be involved in mRNA 5’-splice site recognition. Predicted to be part of U1 snRNP.

Source: NCBI Gene 6060 — 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:10128
Approved symbol	RNU1-4
Name	RNA, U1 small nuclear 4
Location	1p36.1
Locus type	RNA, small nuclear
Status	Approved
Aliases	HSD6, U1E2, HSD2, U1D2, HSD5, U1B2, U1F, HSD7
Ensembl gene	ENSG00000207389
Ensembl biotype	snRNA
OMIM	180680
Entrez	6060
RNAcentral	URS000032B6B6 — snRNA, 164 nt, 83 organism(s)

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 snRNA

ENST00000384659

RefSeq mRNA: 0 — MANE Select: None

Canonical transcript exons

ENST00000384659 — 1 exons

Exon	Start	End
ENSE00001806909	16740516	16740679

Expression profiles

Bgee: expression breadth ubiquitous, 126 present calls, max score 99.96.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.1538 / max 54.1666, expressed in 46 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
10540	0.1538	46

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
corpus callosum	UBERON:0002336	99.96	gold quality
adrenal tissue	UBERON:0018303	99.95	gold quality
sural nerve	UBERON:0015488	99.92	gold quality
calcaneal tendon	UBERON:0003701	99.76	gold quality
granulocyte	CL:0000094	96.26	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	89.16	gold quality
bone marrow	UBERON:0002371	86.35	gold quality
blood	UBERON:0000178	86.14	gold quality
monocyte	CL:0000576	85.95	gold quality
leukocyte	CL:0000738	85.35	gold quality
skeletal muscle tissue	UBERON:0001134	80.18	gold quality
left testis	UBERON:0004533	79.76	gold quality
right testis	UBERON:0004534	79.05	gold quality
putamen	UBERON:0001874	78.91	gold quality
testis	UBERON:0000473	78.83	gold quality
cerebellar hemisphere	UBERON:0002245	77.79	gold quality
cerebellar cortex	UBERON:0002129	77.28	gold quality
caudate nucleus	UBERON:0001873	77.26	gold quality
cerebellum	UBERON:0002037	77.11	gold quality
liver	UBERON:0002107	77.07	gold quality
muscle of leg	UBERON:0001383	76.50	gold quality
nucleus accumbens	UBERON:0001882	76.32	gold quality
gastrocnemius	UBERON:0001388	75.99	gold quality
anterior cingulate cortex	UBERON:0009835	75.39	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	75.22	gold quality
right hemisphere of cerebellum	UBERON:0014890	75.10	gold quality
brain	UBERON:0000955	74.88	gold quality
hindlimb stylopod muscle	UBERON:0004252	74.81	gold quality
amygdala	UBERON:0001876	74.39	gold quality
Ammon’s horn	UBERON:0001954	73.96	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	9.27

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 6)

• Analysis of inhibitory action of modified U1 snRNAs on target gene expression: discrimination of two RNA targets differing by a 1 bp mismatch. (PMID:12034819)
• structure and binding of U1A to U1 hairpin II RNA (PMID:12082087)
• we found that particular amino acids associate with one activity but not another, in 3 mutant proteins, these activities were improved upon, suggesting that U1A autoregulation is selected for suboptimal inhibitory efficiency. (PMID:12697817)
• CRYAB localized with snRNP U1A. (PMID:12837281)
• Endogenous non-snRNP associated U1A inhibits poly(A) polymerase activity proportional to U1A recovered, suggesting that available U1A level alone is responsible for changes in its inhibitory effect at the secretory IgM poly (A) site. (PMID:16373497)
• Study demonstrates that some atypical 5’ splice site are actually efficiently recognized by U1, in an alternative base-pairing register that is shifted by one nucleotide. (PMID:19169258)

Cross-species orthologs

0 orthologs

Paralogs (147): RNU1-75P (ENSG00000194297), RNU1-15P (ENSG00000195024), RNU1-58P (ENSG00000199283), RNU1-150P (ENSG00000199361), RNU1-108P (ENSG00000199426), RNU1-62P (ENSG00000199469), RNU1-70P (ENSG00000199488), RNU1-94P (ENSG00000199497), RNU1-14P (ENSG00000199629), RNU1-35P (ENSG00000199652), RNU1-38P (ENSG00000199687), RNU1-76P (ENSG00000199773), RNU1-134P (ENSG00000199805), RNU1-47P (ENSG00000199836), RNU1-72P (ENSG00000199846), RNVU1-22 (ENSG00000199879), RNU1-17P (ENSG00000199892), RNU1-18P (ENSG00000199932), RNU1-19P (ENSG00000200176), RNU1-20P (ENSG00000200184), RNU1-21P (ENSG00000200197), RNU1-22P (ENSG00000200204), RNU1-23P (ENSG00000200231), RNU1-83P (ENSG00000200296), RNU1-49P (ENSG00000200338), RNU1-105P (ENSG00000200340), RNVU1-33 (ENSG00000200597), RNU1-124P (ENSG00000200731), RNU1-31P (ENSG00000200745), RNU1-65P (ENSG00000200789), RNU1-130P (ENSG00000200800), RNU1-32P (ENSG00000200807), RNU1-146P (ENSG00000200885), RNU1-42P (ENSG00000200903), RNU1-7P (ENSG00000200975), RNVU1-34 (ENSG00000200997), RNU1-96P (ENSG00000201033), RNU1-33P (ENSG00000201119), RNU1-151P (ENSG00000201142), RNU1-24P (ENSG00000201155)

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.