Human Gene NSMAF (uc011lee.2)
  Description: Homo sapiens neutral sphingomyelinase (N-SMase) activation associated factor (NSMAF), transcript variant 2, mRNA.
RefSeq Summary (NM_001144772): 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 regulating TNF-induced cellular responses such as inflammation. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jan 2009].
Transcript (Including UTRs)
   Position: hg19 chr8:59,496,064-59,571,966 Size: 75,903 Total Exon Count: 31 Strand: -
Coding Region
   Position: hg19 chr8:59,496,665-59,571,905 Size: 75,241 Coding Exon Count: 31 

Page IndexSequence and LinksPrimersGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr8:59,496,064-59,571,966)mRNA (may differ from genome)Protein (948 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
H-INVHGNCHPRDLynxMalacardsMGI
OMIMPubMedReactomeTreefamUniProtKBBioGrid CRISPR DB

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

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


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): NSMAF
CDC HuGE Published Literature: NSMAF

-  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
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-  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 -24.9061-0.408 Picture PostScript Text
3' UTR -148.83601-0.248 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
  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
50960 - TolB, C-terminal 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
50969 - YVTN repeat-like/Quinoprotein amine dehydrogenase
50974 - Nitrous oxide reductase, N-terminal domain
50978 - WD40 repeat-like
50993 - Prolyl oligopeptidase, N-terminal domain
69322 - Tricorn protease domain 2
50998 - Quinoprotein alcohol dehydrogenase-like
51004 - C-terminal (heme d1) domain of cytochrome cd1-nitrite reductase
82171 - Dipeptidyl peptidase IV/CD26, N-terminal domain

ModBase Predicted Comparative 3D Structure on Q92636-2
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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 orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  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.

-  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: FAN, NM_001144772, NP_001138244, Q92636-2
UCSC ID: uc011lee.2
RefSeq Accession: NM_001144772
Protein: Q92636-2, splice isoform of Q92636 CCDS: CCDS47864.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001144772.1
exon count: 31CDS single in 3' UTR: no RNA size: 3522
ORF size: 2847CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 5785.00frame shift in genome: no % Coverage: 99.63
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
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.