ENSG00000035681


Homo sapiens

Features
Gene ID: ENSG00000035681
  
Biological name :NSMAF
  
Synonyms : neutral sphingomyelinase activation associated factor / NSMAF / Q92636
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 8
Strand: -1
Band: q12.1
Gene start: 58583504
Gene end: 58659844
  
Corresponding Affymetrix probe sets: 1558775_s_at (Human Genome U133 Plus 2.0 Array)   203269_at (Human Genome U133 Plus 2.0 Array)   232148_at (Human Genome U133 Plus 2.0 Array)   232149_s_at (Human Genome U133 Plus 2.0 Array)   240056_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000411012
Ensembl peptide - ENSP00000430982
Ensembl peptide - ENSP00000430195
Ensembl peptide - ENSP00000038176
NCBI entrez gene - 8439     See in Manteia.
OMIM - 603043
RefSeq - NM_003580
RefSeq - NM_001144772
RefSeq Peptide - NP_001138244
RefSeq Peptide - NP_003571
swissprot - Q92636
swissprot - E5RGU2
swissprot - E5RGF5
Ensembl - ENSG00000035681
  
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 nsmafENSDARG00000051920Danio rerio
 NSMAFENSGALG00000038838Gallus gallus
 NsmafENSMUSG00000028245Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
LRBA / P50851 / LPS responsive beige-like anchor proteinENSG0000019858928
NBEAL2 / Q6ZNJ1 / neurobeachin like 2ENSG0000016079628
NBEA / Q8NFP9 / neurobeachinENSG0000017291528
NBEAL1 / Q6ZS30 / neurobeachin like 1ENSG0000014442627
WDFY3 / Q8IZQ1 / WD repeat and FYVE domain containing 3ENSG0000016362526
WDFY4 / Q6ZS81 / WDFY family member 4ENSG0000012881526
LYST / Q99698 / lysosomal trafficking regulatorENSG0000014366925
WDR81 / Q562E7 / WD repeat domain 81ENSG0000016771612


Protein motifs (from Interpro)
Interpro ID Name
 IPR000409  BEACH domain
 IPR001680  WD40 repeat
 IPR004182  GRAM domain
 IPR011993  PH-like domain superfamily
 IPR015943  WD40/YVTN repeat-like-containing domain superfamily
 IPR017986  WD40-repeat-containing domain
 IPR023362  PH-BEACH domain
 IPR036322  WD40-repeat-containing domain superfamily
 IPR036372  BEACH domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006672 ceramide metabolic process TAS
 biological_processGO:0007165 signal transduction TAS
 biological_processGO:0043065 positive regulation of apoptotic process IEA
 biological_processGO:0043085 positive regulation of catalytic activity IEA
 biological_processGO:2000304 positive regulation of ceramide biosynthetic process TAS
 cellular_componentGO:0005737 cytoplasm TAS
 cellular_componentGO:0005829 cytosol TAS
 molecular_functionGO:0005057 obsolete signal transducer activity, downstream of receptor TAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0016230 sphingomyelin phosphodiesterase activator activity IEA


Pathways (from Reactome)
Pathway description
TNFR1-mediated ceramide production


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
No match
  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000232810 TNF / P01375 / tumor necrosis factor  / complex / reaction
 ENSG00000067182 P19438 / TNFRSF1A / TNF receptor superfamily member 1A  / complex / reaction
 ENSG00000204628 RACK1 / P63244 / receptor for activated C kinase 1  / complex / reaction
 ENSG00000135587 SMPD2 / O60906 / sphingomyelin phosphodiesterase 2  / reaction / complex
 ENSG00000103056 SMPD3 / Q9NY59 / sphingomyelin phosphodiesterase 3  / reaction / complex






 

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