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

Summary

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 signaling adaptor activity and sphingomyelin phosphodiesterase activator activity. Involved in positive regulation of amide metabolic process; regulation of lipid metabolic process; and tumor necrosis factor-mediated signaling pathway. Predicted to be active in plasma membrane. Is expressed in genitourinary system and thalamus mantle layer. Orthologous to human NSMAF (neutral sphingomyelinase activation associated factor). [provided by Alliance of Genome Resources, Nov 2024]
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

Location:: 4 A1; 4 2.91 cM

Exon count:: 35

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	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_000070.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.

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Variation

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Alleles

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

Targeted (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

BI283356 (e-PCR)
- UniSTS:243526

BB452938 (e-PCR)
- UniSTS:207593

AA959567 (e-PCR)
- UniSTS:159210

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables death receptor binding	TAS Traceable Author Statement more info	PubMed
enables signaling adaptor activity	ISO Inferred from Sequence Orthology more info	PubMed
enables sphingomyelin phosphodiesterase activator activity	IEA Inferred from Electronic Annotation more info
enables sphingomyelin phosphodiesterase activator activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in positive regulation of amide metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of amide metabolic process	ISO Inferred from Sequence Orthology more info	PubMed
involved_in positive regulation of apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of apoptotic process	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of lipid metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of lipid metabolic process	ISO Inferred from Sequence Orthology more info	PubMed
involved_in regulation of membrane lipid metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of membrane lipid metabolic process	ISO Inferred from Sequence Orthology more info	PubMed
involved_in tumor necrosis factor-mediated signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in tumor necrosis factor-mediated signaling pathway	ISO Inferred from Sequence Orthology more info	PubMed

Component	Evidence Code	Pubs
is_active_in plasma membrane	ISO Inferred from Sequence Orthology more info	PubMed

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)

NM_001421257.1 → NP_001408186.1 protein FAN isoform 2

Status: VALIDATED

Source sequence(s)

AL772306, BX510318
NM_001421258.1 → NP_001408187.1 protein FAN isoform 3

Status: VALIDATED

Source sequence(s)

AL772306, BX510318
NM_010945.3 → NP_035075.2 protein FAN isoform 1

See identical proteins and their annotated locations for NP_035075.2

Status: VALIDATED

Source sequence(s)

AL772306, BX510318

Consensus CDS

CCDS17952.1

UniProtKB/Swiss-Prot

A2AKK1, O35242

UniProtKB/TrEMBL

Q8C7M6

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: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000070.7 Reference GRCm39 C57BL/6J

Range

6396207..6454840 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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