Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	6625
Gene name	Small nuclear ribonucleoprotein U1 subunit 70
Gene symbol	SNRNP70
Synonyms (NCBI Gene)	RNPU1ZRPU1SNRP70Snp1U1-70KU170KU1APU1RNP
Chromosome	19
Chromosome location	19q13.33

Show/Hide all (71)

miRTarBase ID	miRNA	Experiments	Reference
MIRT028809	hsa-miR-26b-5p	Microarray	19088304
MIRT049622	hsa-miR-92a-3p	CLASH	23622248
MIRT043521	hsa-miR-331-3p	CLASH	23622248
MIRT041276	hsa-miR-193b-3p	CLASH	23622248
MIRT040687	hsa-miR-92b-3p	CLASH	23622248
MIRT039874	hsa-miR-615-3p	CLASH	23622248
MIRT1376063	hsa-miR-185	CLIP-seq
MIRT1376064	hsa-miR-4306	CLIP-seq
MIRT1376065	hsa-miR-4534	CLIP-seq
MIRT1376066	hsa-miR-4640-5p	CLIP-seq
MIRT1376067	hsa-miR-4644	CLIP-seq
MIRT1376068	hsa-miR-4726-5p	CLIP-seq
MIRT1376069	hsa-miR-605	CLIP-seq
MIRT1376070	hsa-miR-922	CLIP-seq
MIRT2111811	hsa-miR-1275	CLIP-seq
MIRT2111812	hsa-miR-1285	CLIP-seq
MIRT2111813	hsa-miR-2277-3p	CLIP-seq
MIRT2111814	hsa-miR-3120-3p	CLIP-seq
MIRT2111815	hsa-miR-3187-5p	CLIP-seq
MIRT2111816	hsa-miR-3677-5p	CLIP-seq
MIRT2111817	hsa-miR-3926	CLIP-seq
MIRT2111818	hsa-miR-432	CLIP-seq
MIRT2111819	hsa-miR-4443	CLIP-seq
MIRT2111820	hsa-miR-4492	CLIP-seq
MIRT2111821	hsa-miR-4498	CLIP-seq
MIRT2111822	hsa-miR-4505	CLIP-seq
MIRT2111823	hsa-miR-4525	CLIP-seq
MIRT2111824	hsa-miR-4665-5p	CLIP-seq
MIRT2111825	hsa-miR-4723-5p	CLIP-seq
MIRT2111826	hsa-miR-4728-5p	CLIP-seq
MIRT2111827	hsa-miR-548s	CLIP-seq
MIRT2111828	hsa-miR-612	CLIP-seq
MIRT2111829	hsa-miR-625	CLIP-seq
MIRT2111830	hsa-miR-762	CLIP-seq
MIRT2111831	hsa-miR-765	CLIP-seq
MIRT2111832	hsa-miR-873	CLIP-seq
MIRT2111811	hsa-miR-1275	CLIP-seq
MIRT2111812	hsa-miR-1285	CLIP-seq
MIRT2111813	hsa-miR-2277-3p	CLIP-seq
MIRT2111814	hsa-miR-3120-3p	CLIP-seq
MIRT2111815	hsa-miR-3187-5p	CLIP-seq
MIRT2111816	hsa-miR-3677-5p	CLIP-seq
MIRT2111817	hsa-miR-3926	CLIP-seq
MIRT2111818	hsa-miR-432	CLIP-seq
MIRT2111819	hsa-miR-4443	CLIP-seq
MIRT2111820	hsa-miR-4492	CLIP-seq
MIRT2111821	hsa-miR-4498	CLIP-seq
MIRT2111822	hsa-miR-4505	CLIP-seq
MIRT2111823	hsa-miR-4525	CLIP-seq
MIRT1376065	hsa-miR-4534	CLIP-seq
MIRT2111824	hsa-miR-4665-5p	CLIP-seq
MIRT2111825	hsa-miR-4723-5p	CLIP-seq
MIRT2111826	hsa-miR-4728-5p	CLIP-seq
MIRT2111827	hsa-miR-548s	CLIP-seq
MIRT2111828	hsa-miR-612	CLIP-seq
MIRT2111829	hsa-miR-625	CLIP-seq
MIRT2111830	hsa-miR-762	CLIP-seq
MIRT2111831	hsa-miR-765	CLIP-seq
MIRT2111832	hsa-miR-873	CLIP-seq
MIRT1376070	hsa-miR-922	CLIP-seq
MIRT2111811	hsa-miR-1275	CLIP-seq
MIRT2111816	hsa-miR-3677-5p	CLIP-seq
MIRT2111817	hsa-miR-3926	CLIP-seq
MIRT2111819	hsa-miR-4443	CLIP-seq
MIRT2111823	hsa-miR-4525	CLIP-seq
MIRT2111824	hsa-miR-4665-5p	CLIP-seq
MIRT2111825	hsa-miR-4723-5p	CLIP-seq
MIRT2111826	hsa-miR-4728-5p	CLIP-seq
MIRT2111827	hsa-miR-548s	CLIP-seq
MIRT2111829	hsa-miR-625	CLIP-seq
MIRT2111831	hsa-miR-765	CLIP-seq

Show/Hide all (40)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000398	Process	MRNA splicing, via spliceosome	IBA
GO:0000398	Process	MRNA splicing, via spliceosome	IC	9731529
GO:0000398	Process	MRNA splicing, via spliceosome	IDA	9531537
GO:0000398	Process	MRNA splicing, via spliceosome	NAS	33677607
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0003723	Function	RNA binding	IEA
GO:0003723	Function	RNA binding	IMP	2467746
GO:0003729	Function	MRNA binding	IBA
GO:0005515	Function	Protein binding	IPI	9447963, 12486009, 14561889, 17043677, 18559666, 18951082, 19928837, 21988832, 22365833, 23602568, 23793891, 24981860, 25719862, 26124092, 26828962, 32296183, 32707033, 33961781, 35271311, 35709258
GO:0005634	Component	Nucleus	IDA	18559850, 21113136
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	21113136
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005681	Component	Spliceosomal complex	IDA	9531537, 9731529
GO:0005681	Component	Spliceosomal complex	IPI	33677607
GO:0005685	Component	U1 snRNP	IBA
GO:0005685	Component	U1 snRNP	IDA	21113136, 23793891, 25555158
GO:0005685	Component	U1 snRNP	IEA
GO:0005685	Component	U1 snRNP	IPI	33677607
GO:0006397	Process	MRNA processing	IEA
GO:0016607	Component	Nuclear speck	IEA
GO:0016607	Component	Nuclear speck	ISS
GO:0030619	Function	U1 snRNA binding	IBA
GO:0030619	Function	U1 snRNA binding	IDA	21113136, 25555158
GO:0030619	Function	U1 snRNA binding	IEA
GO:0043202	Component	Lysosomal lumen	IDA	25719862
GO:0043484	Process	Regulation of RNA splicing	IEA
GO:0043484	Process	Regulation of RNA splicing	IMP	2467746
GO:0048026	Process	Positive regulation of mRNA splicing, via spliceosome	IEA
GO:0061084	Process	Negative regulation of protein refolding	IDA	25719862
GO:0071004	Component	U2-type prespliceosome	IBA
GO:0071300	Process	Cellular response to retinoic acid	IEA
GO:0071356	Process	Cellular response to tumor necrosis factor	IEA
GO:0071560	Process	Cellular response to transforming growth factor beta stimulus	IEA
GO:1904715	Process	Negative regulation of chaperone-mediated autophagy	IDA	25719862
GO:1990446	Function	U1 snRNP binding	IEA
GO:1990904	Component	Ribonucleoprotein complex	IEA

MIM	HGNC	e!Ensembl
180740	11150	ENSG00000104852

P08621

Protein name

U1 small nuclear ribonucleoprotein 70 kDa (U1 snRNP 70 kDa) (U1-70K) (snRNP70)

Protein function

Component of the spliceosomal U1 snRNP, which is essential for recognition of the pre-mRNA 5' splice-site and the subsequent assembly of the spliceosome (PubMed:19325628, PubMed:25555158). SNRNP70 binds to the loop I region of U1-snRNA (PubMed:1

PDB

2L5I , 2L5J , 3CW1 , 3PGW , 4PJO , 4PKD , 6QX9 , 7B0Y , 7VPX , 8R08

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF12220	U1snRNP70_N	3 → 94	U1 small nuclear ribonucleoprotein of 70kDa MW N terminal	Family
PF00076	RRM_1	105 → 175	RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain)	Domain

Sequence

MTQFLPPNLLALFAPRDPIPYLPPLEKLPHEKHHNQPYCGIAPYIREFEDPRDAPPPTRA
ETREERMERKRREKIERRQQEVETELKMWDPHNDPNAQGDAFKTLFVARVNYDTTESKLR
REFEVYGPIKRIHMVYSKRSGKPRGYAFIEYEHERDMHSAYKHADGKKIDGRRVLVDVER
GRTVKGWRPRRLGGGLGGTRRGGADVNIRHSGRDDTSRYDERPGPSPLPHRDRDRDRERE
RRERSRERDKERERRRSRSRDRRRRSRSRDKEERRRSRERSKDKDRDRKRRSSRSRERAR
RERERKEELRGGGGDMAEPSEAGDAPPDDGPPGELGPDGPDGPEEKGRDRDRERRRSHRS
ERERRRDRDRDRDRDREHKRGERGSERGRDEARGGGGGQDNGLEGLGNDSRDMYMESEGG
DGYLAPENGYLMEAAPE

Sequence length

437

Interactions

View interactions

	KEGG		Reactome
	Spliceosome		mRNA Splicing - Major Pathway

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Global developmental delay	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
HYPERTENSION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUPUS ERYTHEMATOSUS, SYSTEMIC	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (17)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma of Lung	Associate	40179422	★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Associate	24023061, 27718298, 29155708, 31723601	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Stimulate	37131295	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Associate	21677381	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Associate	40179422	★★★★★ ★☆☆☆☆ Found in Text Mining only
Connective Tissue Diseases	Associate	10209523	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatomyositis	Stimulate	37131295	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertension Pulmonary	Associate	10209523	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukopenia	Associate	31573470	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Associate	10361906, 11069087, 15880830, 16263701, 26333287, 27353506, 27819008, 31573470, 33686190, 8255767	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Stimulate	27110677	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mixed Connective Tissue Disease	Associate	11069087, 22053914, 27353506, 31573470, 33336388, 33430976	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mixed Connective Tissue Disease	Stimulate	37131295	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myositis	Associate	10361906, 27894310, 34144382	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephritis	Associate	33686190	★★★★★ ★☆☆☆☆ Found in Text Mining only
Scleroderma Systemic	Associate	24067471, 31573470	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stenosis Pulmonary Artery	Associate	10209523	★★★★★ ★☆☆☆☆ Found in Text Mining only

SNRNP70 (small nuclear ribonucleoprotein U1 subunit 70)