SIP1

(survival of motor neuron protein interacting protein 1)

 

  • Alias                                 (According to NCBI)

 

  
  • GEMIN2;
  • SIP1-delta
  • SMN-interacting protein 1
  • survival interacting protein 1
  • SMN interacting protein 1-delta

 
  • The SMN complex plays an essential role in spliceosomal snRNP assembly in the cytoplasm and is required for pre-mRNA splicing in the nucleus.
  • Location: 8p23.2
  • Size: 2059455 bp
  • exons:
  • DNA sequence (Human): NC_000008.9

  • CGH (8p23.2):  Losses (%) -39.1   Gain (%)  3.9  

  • Mutations and SNPs (According to HGMD and SNP)

 

 
  • m-RNA                       (According to NCBI and CGAP)

 

  • mRNA sequence (Human):  

  • Size:  bp

  • cDNA libraries: SIP1
  • Size: 280 amino acids; 31585 Da
  • Catalytic activity:

  • Subcellular location: Nucleus, gem. Cytoplasm. Note=Localized in subnuclear structures next to coiled bodies, called gems, which are highly enriched in spliceosomal snRNPs. Also found in the cytoplasm.

  • Protein domains

     

  • Protein sequence (Human): O14893

  • Homologous genes:  69536

  • 2D PAGE:

  • 3D Structure:  2EHF

  • PTM:

  • Pathways and interactions (According to BioCarta, DIP)

 

  • Pathway:

                        

  • Protein interactions: SIP1
  • Clinical                            (According to OMIM, PubMed)