• Gene id: 6625

Gene Summary

• Gene Symbol: SNRNP70   Gene   UCSC   Ensembl
• Aliases: RNPU1Z, RPU1, SNRP70, Snp1, U1-70K, U170K, U1AP, U1RNP
• Gene name: small nuclear ribonucleoprotein U1 subunit 70
• Alternate names: U1 small nuclear ribonucleoprotein 70 kDa, U1 snRNP 70 kDa, small nuclear ribonucleoprotein 70kDa (U1), small nuclear ribonucleoprotein, U1 70kDa subunit,
• Gene location: 19q13.33 (122311353: 122464218)     Exons: 22     NC_000005.10
• OMIM: 180740

Protein Summary

• Protein general information: P08621  
  • Name: U1 small nuclear ribonucleoprotein 70 kDa (U1 snRNP 70 kDa) (U1 70K) (snRNP70)
  • Length: 437  
  • Mass: 51557
• Sequence:

  MTQFLPPNLLALFAPRDPIPYLPPLEKLPHEKHHNQPYCGIAPYIREFEDPRDAPPPTRAETREERMERKRREKI
  ERRQQEVETELKMWDPHNDPNAQGDAFKTLFVARVNYDTTESKLRREFEVYGPIKRIHMVYSKRSGKPRGYAFIE
  YEHERDMHSAYKHADGKKIDGRRVLVDVERGRTVKGWRPRRLGGGLGGTRRGGADVNIRHSGRDDTSRYDERPGP
  SPLPHRDRDRDRERERRERSRERDKERERRRSRSRDRRRRSRSRDKEERRRSRERSKDKDRDRKRRSSRSRERAR
  RERERKEELRGGGGDMAEPSEAGDAPPDDGPPGELGPDGPDGPEEKGRDRDRERRRSHRSERERRRDRDRDRDRD
  REHKRGERGSERGRDEARGGGGGQDNGLEGLGNDSRDMYMESEGGDGYLAPENGYLMEAAPE

• Structural information:
  • Protein Domains: (103..18-)
    (/note="RRM-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00176"-)
  • Interpro: IPR012677  IPR035979  IPR000504  IPR034143  IPR022023  
  • Prosite: PS50102
  • CDD: cd12236
  • PDB: 2L5I 2L5J 3CW1 3PGW 4PJO 4PKD 6QX9
  • PDBsum: 2L5I 2L5J 3CW1 3PGW 4PJO 4PKD 6QX9
  • DIP: 29406
  • STRING: ENSP00000472998
• Other Databases: GeneCards:  SNRNP70  Malacards:  SNRNP70

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1904715	negative regulation of chaperone-mediated autophagy	TAS	biological process
GO:0043462	regulation of ATPase activity	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0061084	negative regulation of protein refolding	TAS	biological process
GO:0005681	spliceosomal complex	IDA	cellular component
GO:0000398	mRNA splicing, via spliceosome	IC	biological process
GO:0003729	mRNA binding	IBA	molecular function
GO:0000398	mRNA splicing, via spliceosome	IBA	biological process
GO:0071004	U2-type prespliceosome	IBA	cellular component
GO:0030619	U1 snRNA binding	IBA	molecular function
GO:0017069	snRNA binding	IBA	molecular function
GO:0005685	U1 snRNP	IBA	cellular component
GO:0030619	U1 snRNA binding	IDA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0030619	U1 snRNA binding	IDA	molecular function
GO:0005685	U1 snRNP	IDA	cellular component
GO:0005685	U1 snRNP	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0016607	nuclear speck	ISS	cellular component
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0030619	U1 snRNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0006397	mRNA processing	IEA	biological process
GO:0003723	RNA binding	IEA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0000398	mRNA splicing, via spliceosome	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0048026	positive regulation of mRNA splicing, via spliceosome	IEA	biological process
GO:0016607	nuclear speck	IEA	cellular component
GO:0016607	nuclear speck	IEA	cellular component
GO:0005654	nucleoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005685	U1 snRNP	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005681	spliceosomal complex	IDA	cellular component
GO:0000398	mRNA splicing, via spliceosome	IDA	biological process
GO:0043484	regulation of RNA splicing	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0003723	RNA binding	IMP	molecular function
GO:0003723	RNA binding	HDA	molecular function
GO:0003723	RNA binding	HDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa03040	Spliceosome

Diseases

Associated diseases	References
Alzheimer's disease	PMID:24023061
Systemic lupus erythematosus	PMID:22454191
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)