• Gene id: 64092

Gene Summary

• Gene Symbol: SAMSN1   Gene   UCSC   Ensembl
• Aliases: HACS1, NASH1, SASH2, SH3D6B, SLy2
• Gene name: SAM domain, SH3 domain and nuclear localization signals 1
• Alternate names: SAM domain-containing protein SAMSN-1, SAM and SH3 domain containing 2, SAM domain, SH3 domain and nuclear localisation signals, 1, SAM domain, SH3 domain and nuclear localization signals protein 1, SH3-SAM adaptor protein, Src homology domain 3 (SH3)-containi,
• Gene location: 21q11.2 (14583401: 14485227)     Exons: 7     NC_000021.9
• Gene summary(Entrez): SAMSN1 is a member of a novel gene family of putative adaptors and scaffold proteins containing SH3 and SAM (sterile alpha motif) domains (Claudio et al., 2001 [PubMed 11536050]).[supplied by OMIM, Mar 2008]
• OMIM: 607978

Protein Summary

• Protein general information: Q9NSI8  
  • Name: SAM domain containing protein SAMSN 1 (Hematopoietic adaptor containing SH3 and SAM domains 1) (Nash1) (SAM domain, SH3 domain and nuclear localization signals protein 1) (SH3 SAM adaptor protein)
  • Length: 373  
  • Mass: 41708
  • Tissue specificity: Detected in peripheral blood B-cells (at protein level). Detected in spleen, liver and peripheral blood. {ECO
• Sequence:

  MLKRKPSNVSEKEKHQKPKRSSSFGNFDRFRNNSLSKPDDSTEAHEGDPTNGSGEQSKTSNNGGGLGKKMRAISW
  TMKKKVGKKYIKALSEEKDEEDGENAHPYRNSDPVIGTHTEKVSLKASDSMDSLYSGQSSSSGITSCSDGTSNRD
  SFRLDDDGPYSGPFCGRARVHTDFTPSPYDTDSLKIKKGDIIDIICKTPMGMWTGMLNNKVGNFKFIYVDVISEE
  EAAPKKIKANRRSNSKKSKTLQEFLERIHLQEYTSTLLLNGYETLEDLKDIKESHLIELNIENPDDRRRLLSAAE
  NFLEEEIIQEQENEPEPLSLSSDISLNKSQLDDCPRDSGCYISSGNSDNGKEDLESENLSDMVHKIIITEPSD

• Structural information:
  • Protein Domains: (163..22-)
    (/note="SH3-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00192-)
    (241..30-)
    (/note="SAM-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00184"-)
  • Interpro: IPR021090  IPR001660  IPR013761  IPR037623  IPR036028   IPR001452  
  • Prosite: PS50105 PS50002
  • CDD: cd09561
  • PDB: 6UZJ
  • PDBsum: 6UZJ
  • STRING: ENSP00000285670
• Other Databases: GeneCards:  SAMSN1  Malacards:  SAMSN1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0050869	negative regulation of B cell activation	IBA	biological process
GO:0050732	negative regulation of peptidyl-tyrosine phosphorylation	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0005634	nucleus	IBA	cellular component
GO:0001784	phosphotyrosine residue binding	IBA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0050869	negative regulation of B cell activation	ISS	biological process
GO:0050732	negative regulation of peptidyl-tyrosine phosphorylation	ISS	biological process
GO:0002820	negative regulation of adaptive immune response	ISS	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0001784	phosphotyrosine residue binding	IDA	molecular function
GO:0005829	cytosol	IEA	cellular component
GO:0050869	negative regulation of B cell activation	IEA	biological process
GO:0002820	negative regulation of adaptive immune response	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0050732	negative regulation of peptidyl-tyrosine phosphorylation	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0001726	ruffle	IEA	cellular component
GO:0003723	RNA binding	HDA	molecular function

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)