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    NSMAF neutral sphingomyelinase activation associated factor [ Homo sapiens (human) ]

    Gene ID: 8439, updated on 17-Jun-2019

    Summary

    Official Symbol
    NSMAFprovided by HGNC
    Official Full Name
    neutral sphingomyelinase activation associated factorprovided by HGNC
    Primary source
    HGNC:HGNC:8017
    See related
    Ensembl:ENSG00000035681 MIM:603043
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    FAN; GRAMD5
    Summary
    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]
    Expression
    Ubiquitous expression in lymph node (RPKM 12.0), appendix (RPKM 10.7) and 25 other tissues See more
    Orthologs

    Genomic context

    See NSMAF in Genome Data Viewer
    Location:
    8q12.1
    Exon count:
    32
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (58583504..58659853, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (59496063..59572404, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375857 Neighboring gene syndecan binding protein Neighboring gene ribosomal protein S26 pseudogene 7 Neighboring gene uncharacterized LOC105375858 Neighboring gene RNA, U4 small nuclear 50, pseudogene Neighboring gene thymocyte selection associated high mobility group box

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

    Description
    Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
    NHGRI GWA Catalog

    Pathways from BioSystems

    • Death Receptor Signalling, organism-specific biosystem (from REACTOME)
      Death Receptor Signalling, organism-specific biosystemThe death receptors, all cell-surface receptors, begin the process of caspase activation. The common feature of these type 1 transmembrane proteins is the "death-domain" a conserved cytoplasmic motif...
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Sphingolipid signaling pathway, organism-specific biosystem (from KEGG)
      Sphingolipid signaling pathway, organism-specific biosystemSphingomyelin (SM) and its metabolic products are now known to have second messenger functions in a variety of cellular signaling pathways. Particularly, the sphingolipid metabolites, ceramide (Cer) ...
    • Sphingolipid signaling pathway, conserved biosystem (from KEGG)
      Sphingolipid signaling pathway, conserved biosystemSphingomyelin (SM) and its metabolic products are now known to have second messenger functions in a variety of cellular signaling pathways. Particularly, the sphingolipid metabolites, ceramide (Cer) ...
    • TNF alpha Signaling Pathway, organism-specific biosystem (from WikiPathways)
      TNF alpha Signaling Pathway, organism-specific biosystemTumor necrosis factor alpha (TNF?) is a proinflammatory cytokine involved in various biological processes including regulation of cell proliferation, differentiation, apoptosis and immune response. T...
    • TNF receptor signaling pathway, organism-specific biosystem (from Pathway Interaction Database)
      TNF receptor signaling pathway, organism-specific biosystem
      TNF receptor signaling pathway
    • TNF signaling, organism-specific biosystem (from REACTOME)
      TNF signaling, organism-specific biosystemThe inflammatory cytokine tumor necrosis factor alpha (TNF-alpha) is expressed in immune and nonimmune cell types including macrophages, T cells, mast cells, granulocytes, natural killer (NK) cells, ...
    • TNFR1-mediated ceramide production, organism-specific biosystem (from REACTOME)
      TNFR1-mediated ceramide production, organism-specific biosystemTNF-alpha activates sphingomyelinase (SMASE) proteins to catalyze hydrolysis of sphingomyeline into ceramide. Two types of SMASE can be distinguished downstream of TNFR1 signaling, acid and neutral S...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    sphingomyelin phosphodiesterase activator activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    ceramide metabolic process TAS
    Traceable Author Statement
    more info
    PubMed 
    positive regulation of apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of catalytic activity IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of ceramide biosynthetic process TAS
    Traceable Author Statement
    more info
     
    signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    cytoplasm TAS
    Traceable Author Statement
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    protein FAN
    Names
    factor associated with N-SMase activation
    factor associated with neutral sphingomyelinase activation
    neutral sphingomyelinase (N-SMase) activation associated factor

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001144772.1NP_001138244.1  protein FAN isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate exon in the 5' UTR and coding region. Isoform 2 has a longer N-terminus, compared to isoform 1.
      Source sequence(s)
      AC068522, AK294009, BC041124
      Consensus CDS
      CCDS47864.1
      UniProtKB/Swiss-Prot
      Q92636
      Related
      ENSP00000411012.2, ENST00000427130.6
      Conserved Domains (5) summary
      COG2319
      Location:645947
      WD40; WD40 repeat [General function prediction only]
      cd00200
      Location:653945
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
      pfam02138
      Location:335606
      Beach; Beige/BEACH domain
      sd00039
      Location:664701
      7WD40; WD40 repeat [structural motif]
      cl17171
      Location:223316
      PH-like; Pleckstrin homology-like domain
    2. NM_003580.4NP_003571.2  protein FAN isoform 1

      See identical proteins and their annotated locations for NP_003571.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the shorter isoform (1).
      Source sequence(s)
      AC068522, AC092700, BC041124, DR005814
      Consensus CDS
      CCDS6173.1
      UniProtKB/Swiss-Prot
      Q92636
      Related
      ENSP00000038176.3, ENST00000038176.8
      Conserved Domains (4) summary
      cd00200
      Location:622914
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
      sd00039
      Location:633670
      7WD40; WD40 repeat [structural motif]
      pfam02138
      Location:304575
      Beach; Beige/BEACH domain
      cl17171
      Location:192285
      PH-like; Pleckstrin homology-like domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

      Range
      58583504..58659853 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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