Human Gene NSMAF (ENST00000038176.8_9) from GENCODE V47lift37
  Description: Couples the p55 TNF-receptor (TNF-R55 / TNFR1) to neutral sphingomyelinase (N-SMASE). Specifically binds to the N-smase activation domain of TNF-R55. May regulate ceramide production by N- SMASE. (from UniProt Q92636)
Gencode Transcript: ENST00000038176.8_9
Gencode Gene: ENSG00000035681.10_14
Transcript (Including UTRs)
   Position: hg19 chr8:59,496,067-59,572,412 Size: 76,346 Total Exon Count: 31 Strand: -
Coding Region
   Position: hg19 chr8:59,496,665-59,572,190 Size: 75,526 Coding Exon Count: 31 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr8:59,496,067-59,572,412)mRNA (may differ from genome)Protein (917 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblExonPrimerGeneCardsHGNC
MalacardsMGIPubMedReactomeUniProtKB

-  Comments and Description Text from UniProtKB
  ID: FAN_HUMAN
DESCRIPTION: RecName: Full=Protein FAN; AltName: Full=Factor associated with neutral sphingomyelinase activation; Short=Factor associated with N-SMase activation;
FUNCTION: Couples the p55 TNF-receptor (TNF-R55 / TNFR1) to neutral sphingomyelinase (N-SMASE). Specifically binds to the N- smase activation domain of TNF-R55. May regulate ceramide production by N-SMASE.
INTERACTION: O95166:GABARAP; NbExp=2; IntAct=EBI-2947053, EBI-712001; Q9H0R8:GABARAPL1; NbExp=6; IntAct=EBI-2947053, EBI-746969;
TISSUE SPECIFICITY: Ubiquitous.
SIMILARITY: Contains 1 BEACH domain.
SIMILARITY: Contains 1 GRAM domain.
SIMILARITY: Contains 6 WD repeats.

-  Primer design for this transcript
 

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Click here to load the transcript sequence and exon structure into Primer3Plus

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To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: NSMAF
Diseases sorted by gene-association score: 8p11 myeloproliferative syndrome (7)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 16.72 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 452.59 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -118.90222-0.536 Picture PostScript Text
3' UTR -138.30598-0.231 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000409 - BEACH_dom
IPR004182 - GRAM
IPR023362 - PH-BEACH_dom
IPR015943 - WD40/YVTN_repeat-like_dom
IPR001680 - WD40_repeat
IPR017986 - WD40_repeat_dom

Pfam Domains:
PF00400 - WD domain, G-beta repeat
PF02138 - Beige/BEACH domain
PF02893 - GRAM domain

SCOP Domains:
81837 - BEACH domain
50729 - PH domain-like
50952 - Soluble quinoprotein glucose dehydrogenase
50956 - Thermostable phytase (3-phytase)
50960 - TolB, C-terminal domain
63825 - YWTD domain
63829 - Calcium-dependent phosphotriesterase
69304 - Tricorn protease N-terminal domain
101898 - NHL repeat
50965 - Galactose oxidase, central domain
75011 - 3-carboxy-cis,cis-mucoante lactonizing enzyme
101908 - Putative isomerase YbhE
117289 - Nucleoporin domain
50969 - YVTN repeat-like/Quinoprotein amine dehydrogenase
50974 - Nitrous oxide reductase, N-terminal domain
50978 - WD40 repeat-like
50993 - Peptidase/esterase 'gauge' domain
69322 - Tricorn protease domain 2
50998 - Quinoprotein alcohol dehydrogenase-like
51004 - C-terminal (heme d1) domain of cytochrome cd1-nitrite reductase
82171 - DPP6 N-terminal domain-like

ModBase Predicted Comparative 3D Structure on Q92636
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005057 signal transducer activity, downstream of receptor
GO:0005515 protein binding
GO:0016230 sphingomyelin phosphodiesterase activator activity

Biological Process:
GO:0006672 ceramide metabolic process
GO:0007165 signal transduction
GO:0043065 positive regulation of apoptotic process
GO:0043085 positive regulation of catalytic activity
GO:2000304 positive regulation of ceramide biosynthetic process

Cellular Component:
GO:0005737 cytoplasm
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  BC041124 - Homo sapiens neutral sphingomyelinase (N-SMase) activation associated factor, mRNA (cDNA clone MGC:47757 IMAGE:5785460), complete cds.
X96586 - H.sapiens mRNA for FAN protein.
AK294009 - Homo sapiens cDNA FLJ58357 complete cds, highly similar to Protein FAN.
AK292679 - Homo sapiens cDNA FLJ77745 complete cds, highly similar to Homo sapiens neutral sphingomyelinase (N-SMase) activation associated factor (NSMAF), mRNA.
AK313991 - Homo sapiens cDNA, FLJ94643, highly similar to Homo sapiens neutral sphingomyelinase (N-SMase) activation associated factor (NSMAF), mRNA.
KJ897845 - Synthetic construct Homo sapiens clone ccsbBroadEn_07239 NSMAF gene, encodes complete protein.
JD081676 - Sequence 62700 from Patent EP1572962.
JD538653 - Sequence 519677 from Patent EP1572962.
JD419590 - Sequence 400614 from Patent EP1572962.
DL491749 - Novel nucleic acids.
DL490329 - Novel nucleic acids.
JD299159 - Sequence 280183 from Patent EP1572962.
AK022025 - Homo sapiens cDNA FLJ11963 fis, clone HEMBB1001051.
AK304884 - Homo sapiens cDNA FLJ50388 complete cds, highly similar to Protein FAN.
JD140439 - Sequence 121463 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_ceramidePathway - Ceramide Signaling Pathway

Reactome (by CSHL, EBI, and GO)

Protein Q92636 (Reactome details) participates in the following event(s):

R-HSA-5626988 TNF-alpha:TNFR1 binds NSMAF
R-HSA-5626982 TNF-alpha:TNFR1:NSMAF binds GNB2L1
R-HSA-5626981 TNF-alpha:TNFR1:NSMAF:GNB2L1 associates with SMPD2,3
R-HSA-5626978 TNFR1-mediated ceramide production
R-HSA-75893 TNF signaling
R-HSA-73887 Death Receptor Signalling
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: B4DFB0, E9PCH0, ENST00000038176.1, ENST00000038176.2, ENST00000038176.3, ENST00000038176.4, ENST00000038176.5, ENST00000038176.6, ENST00000038176.7, FAN, FAN_HUMAN, NR_182089, Q8IW26, Q92636, uc317bzd.1, uc317bzd.2
UCSC ID: ENST00000038176.8_9
RefSeq Accession: NM_003580.4
Protein: Q92636 (aka FAN_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.