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Nsmaf neutral sphingomyelinase (N-SMase) activation associated factor [ Mus musculus (house mouse) ]

Gene ID: 18201, updated on 26-Sep-2022

Summary

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Official Symbol
Nsmafprovided by MGI
Official Full Name
neutral sphingomyelinase (N-SMase) activation associated factorprovided by MGI
Primary source
MGI:MGI:1341864
See related
Ensembl:ENSMUSG00000028245 AllianceGenome:MGI:1341864
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Fan; C630007J05
Summary
Predicted to enable sphingomyelin phosphodiesterase activator activity. Predicted to be involved in positive regulation of apoptotic process. Is expressed in genitourinary system and thalamus mantle layer. Orthologous to human NSMAF (neutral sphingomyelinase activation associated factor). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in bladder adult (RPKM 12.6), ovary adult (RPKM 10.9) and 28 other tissues See more
Orthologs
human all
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Genomic context

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See Nsmaf in Genome Data Viewer
Location:
4; 4 A1
Exon count:
35
Annotation release Status Assembly Chr Location
109 current GRCm39 (GCF_000001635.27) 4 NC_000070.7 (6396207..6454840, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 4 NC_000070.6 (6396207..6454840, complement)

Chromosome 4 - NC_000070.7Genomic Context describing neighboring genes Neighboring gene RIKEN cDNA 4930430E12 gene Neighboring gene syndecan binding protein Neighboring gene coiled-coil-helix-coiled-coil-helix domain-containing protein 2 pseudogene Neighboring gene predicted gene 11801

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. TNF-receptor-1 adaptor protein FAN mediates TNF-induced B16 melanoma motility and invasion. Boecke A, et al. Br J Cancer, 2013 Jul 23. PMID 23674089, Free PMC Article
  2. The WD repeat protein FAN regulates lysosome size independent from abnormal downregulation/membrane recruitment of protein kinase C. Möhlig H, et al. Exp Cell Res, 2007 Jul 15. PMID 17512928, Free PMC Article
  3. Impaired neutral sphingomyelinase activation and cutaneous barrier repair in FAN-deficient mice. Kreder D, et al. EMBO J, 1999 May 4. PMID 10228161, Free PMC Article
  4. The pro-inflammatory action of tumour necrosis factor-α in non-alcoholic steatohepatitis is independent of the NSMAF gene product. Mas E, et al. Dig Liver Dis, 2013 Feb. PMID 23044079
  5. FAN stimulates TNF(alpha)-induced gene expression, leukocyte recruitment, and humoral response. Montfort A, et al. J Immunol, 2009 Oct 15. PMID 19786552

See all (25) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. FAN through promoting melanoma cellular motility and tumour invasiveness is critical for the tumour-promoting action of tumor necrosis factor.
    Title: TNF-receptor-1 adaptor protein FAN mediates TNF-induced B16 melanoma motility and invasion.
  2. FAN is not implicated in the development of methionine and choline deficient diet-induced non-alcoholic steatohepatitis.
    Title: The pro-inflammatory action of tumour necrosis factor-α in non-alcoholic steatohepatitis is independent of the NSMAF gene product.
  3. these results indicate the involvement of FAN in TNF-induced gene expression and leukocyte recruitment, contributing to the establishment of the specific immune response.
    Title: FAN stimulates TNF(alpha)-induced gene expression, leukocyte recruitment, and humoral response.
  4. This is the first report to demonstrate that TNFalpha-induced sickness behavior is fully mediated by TNF-R1 and that the adaptor protein FAN is a necessary intracellular intermediate for sickness behavior
    Title: The type 1 TNF receptor and its associated adapter protein, FAN, are required for TNFalpha-induced sickness behavior.
  5. The results of this study suggest that PH-mediated plasma membrane targeting of FAN is critically involved in tumor necrosis factor-induced Cdc42 activation and cytoskeleton reorganization.
    Title: PtdIns(4,5)P-restricted plasma membrane localization of FAN is involved in TNF-induced actin reorganization.
  6. FAN mediates activation of N-SMase as well as regulation of lysosome size by signaling pathways that operate independent from activation/membrane recruitment of PKC.
    Title: The WD repeat protein FAN regulates lysosome size independent from abnormal downregulation/membrane recruitment of protein kinase C.
  7. the role of FAN and IL-6 in the inflammatory response initiated by endotoxin, implicating TNFalpha
    Title: Role of FAN in tumor necrosis factor-alpha and lipopolysaccharide-induced interleukin-6 secretion and lethality in D-galactosamine-sensitized mice.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables death receptor binding TAS
Traceable Author Statement
more info
 PubMed 
enables sphingomyelin phosphodiesterase activator activity ISO
Inferred from Sequence Orthology
more info
  
Process Evidence Code Pubs
involved_in positive regulation of apoptotic process ISO
Inferred from Sequence Orthology
more info
  

General protein information

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

NCBI Reference Sequences (RefSeq)

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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_010945.2 → NP_035075.2  protein FAN

    See identical proteins and their annotated locations for NP_035075.2

    Status: VALIDATED

    Source sequence(s)
    BC145963, BY729997, CO043098
    Consensus CDS
    CCDS17952.1
    UniProtKB/Swiss-Prot
    A2AKK1, O35242
    Related
    ENSMUSP00000029910.6, ENSMUST00000029910.12
    Conserved Domains (5) summary
    COG2319
    Location:558 → 919
    WD40; WD40 repeat [General function prediction only]
    cd00200
    Location:625 → 917
    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 ...
    cd01201
    Location:192 → 285
    PH_BEACH; Pleckstrin homology domain in BEACH domain containing proteins
    pfam02138
    Location:304 → 575
    Beach; Beige/BEACH domain
    sd00039
    Location:636 → 673
    7WD40; WD40 repeat [structural motif]

RefSeqs of Annotated Genomes: Mus musculus 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 GRCm39 C57BL/6J

Genomic

  1. NC_000070.7 Reference GRCm39 C57BL/6J

    Range
    6396207..6454840 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006537664.3 → XP_006537727.1  protein FAN isoform X3

    Conserved Domains (4) summary
    cd00200
    Location:625 → 924
    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 ...
    cd01201
    Location:192 → 285
    PH_BEACH; Pleckstrin homology domain in BEACH domain containing proteins
    sd00039
    Location:636 → 673
    7WD40; WD40 repeat [structural motif]
    pfam02138
    Location:304 → 575
    Beach; Beige/BEACH domain

  2. XM_006537662.4 → XP_006537725.1  protein FAN isoform X1

    Conserved Domains (4) summary
    cd00200
    Location:654 → 953
    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 ...
    cd01201
    Location:221 → 314
    PH_BEACH; Pleckstrin homology domain in BEACH domain containing proteins
    sd00039
    Location:665 → 702
    7WD40; WD40 repeat [structural motif]
    pfam02138
    Location:333 → 604
    Beach; Beige/BEACH domain

  3. XM_036163818.1 → XP_036019711.1  protein FAN isoform X4

    Conserved Domains (3) summary
    cd00200
    Location:236 → 535
    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:247 → 284
    7WD40; WD40 repeat [structural motif]
    pfam02138
    Location:39 → 186
    Beach; Beige/BEACH domain

  4. XM_006537663.4 → XP_006537726.1  protein FAN isoform X2

    Conserved Domains (4) summary
    cd00200
    Location:654 → 946
    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 ...
    cd01201
    Location:221 → 314
    PH_BEACH; Pleckstrin homology domain in BEACH domain containing proteins
    sd00039
    Location:665 → 702
    7WD40; WD40 repeat [structural motif]
    pfam02138
    Location:333 → 604
    Beach; Beige/BEACH domain

RNA

  1. XR_004941835.1 RNA Sequence

  2. XR_004941836.1 RNA Sequence

  3. XR_004941839.1 RNA Sequence

  4. XR_390314.4 RNA Sequence

  5. XR_004941833.1 RNA Sequence

  6. XR_004941834.1 RNA Sequence

  7. XR_004941838.1 RNA Sequence

  8. XR_004941840.1 RNA Sequence

  9. XR_004941841.1 RNA Sequence

  10. XR_004941837.1 RNA Sequence

Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O35242.2 GenPept UniProtKB/Swiss-Prot:O35242

Gene LinkOut

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