SNRNP70 (small nuclear ribonucleoprotein U1 subunit 70)

Gene

• Entrez ID: 6625
• Gene name: Small nuclear ribonucleoprotein U1 subunit 70
• Gene symbol: SNRNP70
• Synonyms (NCBI Gene): RNPU1Z, RPU1, SNRP70, Snp1, U1-70K, U170K, U1AP, U1RNP
• Chromosome: 19
• Chromosome location: 19q13.33

miRNA

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

Gene ontology (GO)

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

Other IDs

• MIM: 180740
• HGNC: 11150
• e!Ensembl: ENSG00000104852

Protein

• UniProt ID: 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

Pathways

KEGG:

Spliceosome

Reactome:

mRNA Splicing - Major Pathway

Associated diseases

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
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

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Aganglionosis, Colonic	Colonic Aganglionosis	BEFREE	22325379		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	24023061, 27718298, 29155708, 31723601	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	37131295	Stimulate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	18335111, 23517037		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	17955477		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	17712621		★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	BEFREE	22407170		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	19070628		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	21677381	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	19070628		★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	40179422	Associate	★☆☆☆☆ Found in Text Mining only
Conduction disorder of the heart	Conduction Disorder Of The Heart	BEFREE	7722044		★☆☆☆☆ Found in Text Mining only
Connective Tissue Diseases	Connective tissue disease	Pubtator	10209523	Associate	★☆☆☆☆ Found in Text Mining only
Connective Tissue Diseases	Connective Tissue Disease	LHGDN	12218166		★☆☆☆☆ Found in Text Mining only
Connective Tissue Diseases	Connective Tissue Disease	BEFREE	31573470, 7722044		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	31337960		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	25592814, 31337960		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	31337960		★☆☆☆☆ Found in Text Mining only
Dermatomyositis	Dermatomyositis	Pubtator	37131295	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	12401729		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	12401729		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	12401729, 15156315		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	12086959, 18821326		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	22325379		★☆☆☆☆ Found in Text Mining only
Early onset schizophrenia	Schizophrenia	BEFREE	12873802		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	26296520		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	17389609		★☆☆☆☆ Found in Text Mining only
Heart Block	Heart Block	BEFREE	31079145		★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	BEFREE	22325379, 24528961		★☆☆☆☆ Found in Text Mining only
Hypertension Pulmonary	Pulmonary hypertension	Pubtator	10209523	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	29164429		★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	31337960		★☆☆☆☆ Found in Text Mining only
Lung Diseases, Interstitial	Lung Diseases	BEFREE	19054818		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus	Lupus Erythematosus	BEFREE	1444503		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	10361906, 11069087, 15880830, 16263701, 26333287, 27353506, 27819008, 31573470, 33686190, 8255767	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	27110677	Stimulate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Discoid	Lupus Erythematosus	BEFREE	1444503		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	1444503, 22673213, 27819008, 31573470, 7849580, 8255767		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lupus Vulgaris	Lupus Vulgaris	BEFREE	1444503		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	26296520		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	17085659		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	19070628		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	20797394		★☆☆☆☆ Found in Text Mining only
Mixed Connective Tissue Disease	Mixed connective tissue disease	Pubtator	11069087, 22053914, 27353506, 31573470, 33336388, 33430976	Associate	★☆☆☆☆ Found in Text Mining only
Mixed Connective Tissue Disease	Mixed connective tissue disease	Pubtator	37131295	Stimulate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	15454732		★☆☆☆☆ Found in Text Mining only
Myocarditis	Myocarditis	BEFREE	27055150		★☆☆☆☆ Found in Text Mining only
Myositis	Myositis	Pubtator	10361906, 27894310, 34144382	Associate	★☆☆☆☆ Found in Text Mining only
Myositis	Myositis	BEFREE	31068947		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	26148677		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	24057179, 27196486		★☆☆☆☆ Found in Text Mining only
Panic Disorder	Panic Disorder	BEFREE	15048659		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	15304593, 19394114		★☆☆☆☆ Found in Text Mining only
Pemphigus Vulgaris	Pemphigus Vulgaris	BEFREE	22053914		★☆☆☆☆ Found in Text Mining only
Pericarditis	Pericarditis	BEFREE	27055150		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	17085659		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	23587900		★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	BEFREE	31131913		★☆☆☆☆ Found in Text Mining only
Schizoaffective Disorder	Schizoaffective Disorder	BEFREE	11239712		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	11239712, 12873802, 15653273, 18541413, 18638388		★☆☆☆☆ Found in Text Mining only
Scleroderma Systemic	Systemic sclerosis	Pubtator	24067471, 31573470	Associate	★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 1	Spinocerebellar Ataxia	BEFREE	16133185		★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	11315929, 19054818, 31573470		★☆☆☆☆ Found in Text Mining only
Vesicoureteral Reflux 1	Vesicoureteral Reflux	BEFREE	15200408		★☆☆☆☆ Found in Text Mining only