RNU6-1

Summary

RNU6-1 (RNA, U6 small nuclear 1, HGNC:10227) is a small nuclear RNA gene on chromosome 15q23.

Predicted to enable U4 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/U6 x U5 tri-snRNP complex and U6 snRNP.

Source: NCBI Gene 26827 — 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:10227
Approved symbol	RNU6-1
Name	RNA, U6 small nuclear 1
Location	15q23
Locus type	RNA, small nuclear
Status	Approved
Aliases	U6, U6-1
Ensembl gene	ENSG00000206625
Ensembl biotype	snRNA
OMIM	180692
Entrez	26827
RNAcentral	URS000035C796 — snRNA, 106 nt, 3 organism(s)

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 snRNA

ENST00000383898

RefSeq mRNA: 0 — MANE Select: None

Canonical transcript exons

ENST00000383898 — 1 exons

Exon	Start	End
ENSE00001807378	67839939	67840045

Expression profiles

Bgee: expression breadth ubiquitous, 117 present calls, max score 99.60.

FANTOM5 (CAGE): breadth broad, TPM avg 2.4124 / max 468.2337, expressed in 667 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
172826	2.4124	667
172803	0.2525	87

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
sural nerve	UBERON:0015488	99.60	gold quality
adrenal tissue	UBERON:0018303	95.53	gold quality
corpus callosum	UBERON:0002336	90.77	gold quality
granulocyte	CL:0000094	90.62	gold quality
calcaneal tendon	UBERON:0003701	88.32	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	88.25	gold quality
endometrium	UBERON:0001295	87.15	gold quality
blood	UBERON:0000178	86.65	gold quality
skeletal muscle tissue	UBERON:0001134	86.57	gold quality
monocyte	CL:0000576	86.48	gold quality
Ammon’s horn	UBERON:0001954	86.27	gold quality
leukocyte	CL:0000738	85.88	gold quality
nucleus accumbens	UBERON:0001882	85.73	gold quality
anterior cingulate cortex	UBERON:0009835	85.71	gold quality
right hemisphere of cerebellum	UBERON:0014890	85.62	gold quality
substantia nigra	UBERON:0002038	85.50	gold quality
hypothalamus	UBERON:0001898	85.12	gold quality
cerebral cortex	UBERON:0000956	85.06	gold quality
amygdala	UBERON:0001876	85.04	gold quality
islet of Langerhans	UBERON:0000006	84.83	gold quality
frontal cortex	UBERON:0001870	84.48	gold quality
right frontal lobe	UBERON:0002810	84.41	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	84.30	gold quality
cerebellar hemisphere	UBERON:0002245	83.84	gold quality
brain	UBERON:0000955	83.80	gold quality
caudate nucleus	UBERON:0001873	83.69	gold quality
putamen	UBERON:0001874	83.63	gold quality
bone marrow	UBERON:0002371	83.51	gold quality
prefrontal cortex	UBERON:0000451	82.82	gold quality
Brodmann (1909) area 9	UBERON:0013540	82.72	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.54

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): FOS, GLI3, KDM5D, NR4A2, PAX1, POU2F1, SNAPC4, SPDEF, STAT2, TBP, TP53, YY1, ZNF143

Literature-anchored findings (GeneRIF, showing 7)

• Observations indicate conformational heterogeneity in the protein-free human U2-U6 snRNA complex consistent with a model in which the RNA has sufficient conformational flexibility to facilitate inter-conversion between steps of splicing in situ. (PMID:23426875)
• combination of miR-191-5p and U6 could be used as reference genes for serum microRNAs qPCR data in colorectal adenocarcinoma, colorectal adenoma and healthy controls. (PMID:24349425)
• Data indicate that U6 (RNU6A) and RNU6B are not suitable for use as endogenous controls for normalizing microRNA relative quantitation data in hepatic tissue, and their use can led to possibly erroneous conclusions. (PMID:24606728)
• Small non-coding RNA profiling in breast cancer: plasma U6 snRNA, miR-451a and miR-548b-5p as novel diagnostic and prognostic biomarkers. (PMID:34993725)
• N 2-methylguanosine modifications on human tRNAs and snRNA U6 are important for cell proliferation, protein translation and pre-mRNA splicing. (PMID:37283053)
• THUMPD2 catalyzes the N2-methylation of U6 snRNA of the spliceosome catalytic center and regulates pre-mRNA splicing and retinal degeneration. (PMID:38165050)
• Splicing analysis of STAT3 tandem donor suggests non-canonical binding registers for U1 and U6 snRNAs. (PMID:38426935)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
mus_musculus	Gm25064	ENSMUSG00000118764
rattus_norvegicus	U6	ENSRNOG00000082950
rattus_norvegicus	U6	ENSRNOG00000087357
rattus_norvegicus	U6	ENSRNOG00000091254

Paralogs (1313): RNU6-1123P (ENSG00000199217), RNU6-500P (ENSG00000199219), RNU6-50P (ENSG00000199226), RNU6-834P (ENSG00000199237), RNU6-896P (ENSG00000199246), RNU6-28P (ENSG00000199248), RNU6-664P (ENSG00000199251), RNU6-874P (ENSG00000199260), RNU6-349P (ENSG00000199272), RNU6-661P (ENSG00000199279), RNU6-1094P (ENSG00000199286), RNU6-502P (ENSG00000199289), RNU6-1312P (ENSG00000199295), RNU6-208P (ENSG00000199301), RNU6-858P (ENSG00000199306), RNU6-222P (ENSG00000199308), RNU6-1298P (ENSG00000199326), RNU6-230P (ENSG00000199327), RNU6-204P (ENSG00000199335), RNU6-766P (ENSG00000199348), RNU6-1115P (ENSG00000199360), RNU6-1084P (ENSG00000199368), RNU6-79P (ENSG00000199381), RNU6-369P (ENSG00000199385), RNU6-600P (ENSG00000199394), RNU6-543P (ENSG00000199446), RNU6-845P (ENSG00000199448), RNU6-1216P (ENSG00000199460), RNU6-556P (ENSG00000199468), RNU6-633P (ENSG00000199482), RNU6-1313P (ENSG00000199492), RNU6-247P (ENSG00000199506), RNU6-212P (ENSG00000199512), RNU6-235P (ENSG00000199514), RNU6-386P (ENSG00000199520), RNU6-462P (ENSG00000199529), RNU6-315P (ENSG00000199536), RNU6-545P (ENSG00000199551), RNU6-37P (ENSG00000199562), RNU6-228P (ENSG00000199570)

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.