• Gene id: 8439

Gene Summary

• Gene Symbol: NSMAF   Gene   UCSC   Ensembl
• Aliases: FAN, GRAMD5
• Gene name: neutral sphingomyelinase activation associated factor
• Alternate names: protein FAN, factor associated with N-SMase activation, factor associated with neutral sphingomyelinase activation, neutral sphingomyelinase (N-SMase) activation associated factor,
• Gene location: 8q12.1 (58659852: 58583503)     Exons: 32     NC_000008.11
• Gene summary(Entrez): This gene encodes a WD-repeat protein that binds the cytoplasmic sphingomyelinase activation domain of the 55kD tumor necrosis factor receptor. This protein is required for TNF-mediated activation of neutral sphingomyelinase and may play a role in regulat
• OMIM: 603043

Protein Summary

• Protein general information: Q92636  
  • Name: Protein FAN (Factor associated with neutral sphingomyelinase activation) (Factor associated with N SMase activation)
  • Length: 917  
  • Mass: 104372
  • Tissue specificity: Ubiquitous.
• Sequence:

  MAFIRKKQQEQQLQLYSKERFSLLLLNLEEYYFEQHRANHILHKGSHHERKIRGSLKICSKSVIFEPDSISQPII
  KIPLRDCIKIGKHGENGANRHFTKAKSGGISLIFSQVYFIKEHNVVAPYKIERGKMEYVFELDVPGKVEDVVETL
  LQLHRASCLDKLGDQTAMITAILQSRLARTSFDKNRFQNISEKLHMECKAEMVTPLVTNPGHVCITDTNLYFQPL
  NGYPKPVVQITLQDVRRIYKRRHGLMPLGLEVFCTEDDLCSDIYLKFYEPQDRDDLYFYIATYLEHHVAEHTAES
  YMLQWQRGHLSNYQYLLHLNNLADRSCNDLSQYPVFPWIIHDYSSSELDLSNPGTFRDLSKPVGALNKERLERLL
  TRYQEMPEPKFMYGSHYSSPGYVLFYLVRIAPEYMLCLQNGRFDNADRMFNSIAETWKNCLDGATDFKELIPEFY
  GDDVSFLVNSLKLDLGKRQGGQMVDDVELPPWASSPEDFLQKSKDALESNYVSEHLHEWIDLIFGYKQKGSDAVG
  AHNVFHPLTYEGGVDLNSIQDPDEKVAMLTQILEFGQTPKQLFVTPHPRRITPKFKSLSQTSSYNASMADSPGEE
  SFEDLTEESKTLAWNNITKLQLHEHYKIHKEAVTGITVSRNGSSVFTTSQDSTLKMFSKESKMLQRSISFSNMAL
  SSCLLLPGDATVITSSWDNNVYFYSIAFGRRQDTLMGHDDAVSKICWHDNRLYSASWDSTVKVWSGVPAEMPGTK
  RHHFDLLAELEHDVSVDTISLNAASTLLVSGTKEGTVNIWDLTTATLMHQIPCHSGIVCDTAFSPDSRHVLSTGT
  DGCLNVIDVQTGMLISSMTSDEPQRCFVWDGNSVLSGSQSGELLVWDLLGAKISERIQGHTGAVTCIWMNEQCSS
  IITGGEDRQIIFWKLQY

• Structural information:
  • Protein Domains: (176..24-)
    (/note="GRAM-)
    (189..28-)
    (/note="BEACH-type-PH)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01119-)
    (290..57-)
    (/note="BEACH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00026"-)
  • Interpro: IPR000409  IPR036372  IPR004182  IPR023362  IPR015943   IPR001680  IPR017986  IPR036322  
  • Prosite: PS50197 PS51783 PS50082 PS50294
  • CDD: cd06071
  • DIP: 44106
  • STRING: ENSP00000411012
• Other Databases: GeneCards:  NSMAF  Malacards:  NSMAF

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005737	cytoplasm	TAS	cellular component
GO:0006672	ceramide metabolic process	TAS	biological process
GO:0007165	signal transduction	TAS	biological process
GO:2000304	positive regulation of ceramide biosynthetic process	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	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:0043065	positive regulation of apoptotic process	IEA	biological process
GO:0016230	sphingomyelin phosphodiesterase activator activity	IEA	molecular function
GO:0043085	positive regulation of catalytic activity	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa04071	Sphingolipid signaling pathway

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Hypospermatogenesis	MIK: 28361989
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray