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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

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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