RNU7-1

Summary

RNU7-1 (RNA, U7 small nuclear 1, HGNC:34033) is a small nuclear RNA gene on chromosome 12p13.31.

Implicated in Aicardi-Goutieres syndrome.

Source: NCBI Gene 100147744 — 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:34033
Approved symbol	RNU7-1
Name	RNA, U7 small nuclear 1
Location	12p13.31
Locus type	RNA, small nuclear
Status	Approved
Aliases	U7.1
Ensembl gene	ENSG00000238923
Ensembl biotype	snRNA
OMIM	617876
Entrez	100147744
RNAcentral	URS0000659914 — ncRNA, 63 nt, 2 organism(s)

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 snRNA

ENST00000458811

RefSeq mRNA: 0 — MANE Select: None

Canonical transcript exons

ENST00000458811 — 1 exons

Exon	Start	End
ENSE00001809246	6943816	6943878

Expression profiles

Bgee: expression breadth broad, 23 present calls, max score 97.19.

FANTOM5 (CAGE): breadth broad, TPM avg 2.0836 / max 146.8102, expressed in 696 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
123844	2.0836	696

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
sural nerve	UBERON:0015488	97.19	gold quality
liver	UBERON:0002107	93.60	gold quality
skeletal muscle tissue	UBERON:0001134	84.69	gold quality
tibial nerve	UBERON:0001323	73.47	gold quality
blood	UBERON:0000178	72.26	gold quality
thoracic aorta	UBERON:0001515	70.50	gold quality
muscle of leg	UBERON:0001383	69.79	gold quality
endometrium	UBERON:0001295	69.07	gold quality
caudate nucleus	UBERON:0001873	67.00	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	60.47	gold quality
heart left ventricle	UBERON:0002084	59.63	gold quality
gastrocnemius	UBERON:0001388	55.41	gold quality
adult mammalian kidney	UBERON:0000082	54.63	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	54.56	gold quality
muscle layer of sigmoid colon	UBERON:0035805	52.06	gold quality
esophagus mucosa	UBERON:0002469	50.91	gold quality
smooth muscle tissue	UBERON:0001135	49.60	gold quality
Ammon’s horn	UBERON:0001954	46.77	gold quality
putamen	UBERON:0001874	44.95	gold quality
right atrium auricular region	UBERON:0006631	43.57	gold quality
vagina	UBERON:0000996	42.63	silver quality
right lobe of thyroid gland	UBERON:0001119	42.15	silver quality
body of stomach	UBERON:0001161	41.92	silver quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 2)

• cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing. (PMID:33230297)
• Mutations in RNU7-1 Weaken Secondary RNA Structure, Induce MCP-1 and CXCL10 in CSF, and Result in Aicardi-Goutieres Syndrome with Severe End-Organ Involvement. (PMID:35320431)

Cross-species orthologs

0 orthologs

Paralogs (155): RNU7-120P (ENSG00000238302), RNU7-50P (ENSG00000238304), RNU7-148P (ENSG00000238357), RNU7-140P (ENSG00000238364), RNU7-57P (ENSG00000238365), RNU7-103P (ENSG00000238370), RNU7-180P (ENSG00000238374), RNU7-165P (ENSG00000238380), RNU7-48P (ENSG00000238386), RNU7-171P (ENSG00000238406), RNU7-63P (ENSG00000238417), RNU7-186P (ENSG00000238419), RNU7-136P (ENSG00000238427), RNU7-157P (ENSG00000238431), RNU7-130P (ENSG00000238441), RNU7-38P (ENSG00000238446), RNU7-134P (ENSG00000238447), RNU7-144P (ENSG00000238452), RNU7-169P (ENSG00000238457), RNU7-14P (ENSG00000238468), RNU7-87P (ENSG00000238500), RNU7-107P (ENSG00000238523), RNU7-93P (ENSG00000238540), RNU7-104P (ENSG00000238542), RNU7-21P (ENSG00000238558), RNU7-159P (ENSG00000238562), RNU7-167P (ENSG00000238584), RNU7-54P (ENSG00000238590), RNU7-7P (ENSG00000238606), RNU7-94P (ENSG00000238609), RNU7-26P (ENSG00000238610), RNU7-126P (ENSG00000238632), RNU7-62P (ENSG00000238653), RNU7-147P (ENSG00000238698), RNU7-97P (ENSG00000238704), RNU7-56P (ENSG00000238709), RNU7-96P (ENSG00000238719), RNU7-194P (ENSG00000238721), RNU7-164P (ENSG00000238730), RNU7-90P (ENSG00000238731)

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.