• Gene id: 84081

Gene Summary

• Gene Symbol: NSRP1   Gene   UCSC   Ensembl
• Aliases: CCDC55, HSPC095, NSrp70
• Gene name: nuclear speckle splicing regulatory protein 1
• Alternate names: nuclear speckle splicing regulatory protein 1, coiled-coil domain containing 55, coiled-coil domain-containing protein 55, nuclear speckle-related protein 70,
• Gene location: 17q11.2 (30116806: 30186474)     Exons: 8     NC_000017.11
• OMIM: 601958

Protein Summary

• Protein general information: Q9H0G5  
  • Name: Nuclear speckle splicing regulatory protein 1 (Coiled coil domain containing protein 55) (Nuclear speckle related protein 70) (NSrp70)
  • Length: 558  
  • Mass: 66390
  • Tissue specificity: Expressed in dendritic cells, T-cells, B-cells and natural killer cells. Expressed in secondary lymphoid organs such as spleen and mesenteric, axillary and brachial lymph nodes. {ECO
• Sequence:

  MAIPGRQYGLILPKKTQQLHPVLQKPSVFGNDSDDDDETSVSESLQREAAKKQAMKQTKLEIQKALAEDATVYEY
  DSIYDEMQKKKEENNPKLLLGKDRKPKYIHNLLKAVEIRKKEQEKRMEKKIQREREMEKGEFDDKEAFVTSAYKK
  KLQERAEEEEREKRAAALEACLDVTKQKDLSGFYRHLLNQAVGEEEVPKCSFREARSGIKEEKSRGFSNEVSSKN
  RIPQEKCILQTDVKVEENPDADSDFDAKSSADDEIEETRVNCRREKVIETPENDFKHHRSQNHSRSPSEERGHST
  RHHTKGSRTSRGHEKREDQHQQKQSRDQENHYTDRDYRKERDSHRHREASHRDSHWKRHEQEDKPRARDQRERSD
  RVWKREKDREKYSQREQERDRQQNDQNRPSEKGEKEEKSKAKEEHMKVRKERYENNDKYRDREKREVGVQSSERN
  QDRKESSPNSRAKDKFLDQERSNKMRNMAKDKERNQEKPSNSESSLGAKHRLTEEGQEKGKEQERPPEAVSKFAK
  RNNEETVMSARDRYLARQMARVNAKTYIEKEDD

• Structural information:
  • Interpro: IPR018612  IPR042816  
  • STRING: ENSP00000247026
• Other Databases: GeneCards:  NSRP1  Malacards:  NSRP1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1990904	ribonucleoprotein complex	IDA	cellular component
GO:0003729	mRNA binding	IDA	molecular function
GO:0000381	regulation of alternative mRNA splicing, via spliceosome	IDA	biological process
GO:0016607	nuclear speck	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0032502	developmental process	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0003723	RNA binding	IEA	molecular function
GO:0008380	RNA splicing	IEA	biological process
GO:0006397	mRNA processing	IEA	biological process
GO:0016607	nuclear speck	IDA	cellular component
GO:0001701	in utero embryonic development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0016607	nuclear speck	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0003723	RNA binding	HDA	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray