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Aliases for NSMAF Gene

Aliases for NSMAF Gene

  • Neutral Sphingomyelinase Activation Associated Factor 2 3 5
  • Neutral Sphingomyelinase (N-SMase) Activation Associated Factor 2 3
  • Factor Associated With Neutral Sphingomyelinase Activation 3 4
  • Factor Associated With N-SMase Activation 3 4
  • FAN 3 4
  • GRAMD5 3

External Ids for NSMAF Gene

Previous GeneCards Identifiers for NSMAF Gene

  • GC08M059435
  • GC08M059219
  • GC08M059546
  • GC08M059658
  • GC08M054983
  • GC08M059496

Summaries for NSMAF Gene

Entrez Gene Summary for NSMAF Gene

  • 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]

GeneCards Summary for NSMAF Gene

NSMAF (Neutral Sphingomyelinase Activation Associated Factor) is a Protein Coding gene. Diseases associated with NSMAF include 8p11 myeloproliferative syndrome. Among its related pathways are Signaling by GPCR and Sphingolipid signaling pathway. GO annotations related to this gene include phospholipid binding and sphingomyelin phosphodiesterase activator activity. An important paralog of this gene is WDFY3.

UniProtKB/Swiss-Prot for NSMAF Gene

  • Couples the p55 TNF-receptor (TNF-R55 / TNFR1) to neutral sphingomyelinase (N-SMASE). Specifically binds to the N-smase activation domain of TNF-R55. May regulate ceramide production by N-SMASE.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NSMAF Gene

Genomics for NSMAF Gene

Regulatory Elements for NSMAF Gene

Promoters for NSMAF Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around NSMAF on UCSC Golden Path with GeneCards custom track

Genomic Location for NSMAF Gene

Chromosome:
8
Start:
58,583,504 bp from pter
End:
58,659,845 bp from pter
Size:
76,342 bases
Orientation:
Minus strand

Genomic View for NSMAF Gene

Genes around NSMAF on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NSMAF Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NSMAF Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NSMAF Gene

Proteins for NSMAF Gene

  • Protein details for NSMAF Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q92636-FAN_HUMAN
    Recommended name:
    Protein FAN
    Protein Accession:
    Q92636
    Secondary Accessions:
    • B4DFB0
    • E9PCH0
    • Q8IW26

    Protein attributes for NSMAF Gene

    Size:
    917 amino acids
    Molecular mass:
    104372 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for NSMAF Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NSMAF Gene

Proteomics data for NSMAF Gene at MOPED

Post-translational modifications for NSMAF Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NSMAF Gene

Antibody Products

No data available for DME Specific Peptides for NSMAF Gene

Domains & Families for NSMAF Gene

Suggested Antigen Peptide Sequences for NSMAF Gene

Graphical View of Domain Structure for InterPro Entry

Q92636

UniProtKB/Swiss-Prot:

FAN_HUMAN :
  • Contains 1 BEACH domain.
  • Contains 6 WD repeats.
Domain:
  • Contains 1 BEACH domain.
  • Contains 1 BEACH-type PH domain.
  • Contains 1 GRAM domain.
Similarity:
  • Contains 6 WD repeats.
genes like me logo Genes that share domains with NSMAF: view

Function for NSMAF Gene

Molecular function for NSMAF Gene

GENATLAS Biochemistry:
neutral sphingomyelinase (N-Smase) activation factor,activated by TNFRSF1A,interacting signal transduction events that induce inflammatory and proliferative responses to TNF stimulation,LYST and mouse beige homolog
UniProtKB/Swiss-Prot Function:
Couples the p55 TNF-receptor (TNF-R55 / TNFR1) to neutral sphingomyelinase (N-SMASE). Specifically binds to the N-smase activation domain of TNF-R55. May regulate ceramide production by N-SMASE.
genes like me logo Genes that share phenotypes with NSMAF: view

Animal Models for NSMAF Gene

MGI Knock Outs for NSMAF:

Animal Model Products

CRISPR Products

miRNA for NSMAF Gene

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for NSMAF Gene

Localization for NSMAF Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NSMAF Gene COMPARTMENTS Subcellular localization image for NSMAF gene
Compartment Confidence
cytosol 5
nucleus 4
lysosome 1
mitochondrion 1
vacuole 1

Gene Ontology (GO) - Cellular Components for NSMAF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with NSMAF: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for NSMAF Gene

Pathways & Interactions for NSMAF Gene

genes like me logo Genes that share pathways with NSMAF: view

Pathways by source for NSMAF Gene

Gene Ontology (GO) - Biological Process for NSMAF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006672 ceramide metabolic process TAS 8808629
GO:2000304 positive regulation of ceramide biosynthetic process TAS --
genes like me logo Genes that share ontologies with NSMAF: view

No data available for SIGNOR curated interactions for NSMAF Gene

Drugs & Compounds for NSMAF Gene

(30) Additional Compounds for NSMAF Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Cer(d18:0/12:0)
Cer(d18:0/14:0)
Cer(d18:0/16:0)
Cer(d18:0/18:0)
Cer(d18:0/18:1(11Z))
genes like me logo Genes that share compounds with NSMAF: view

Transcripts for NSMAF Gene

Unigene Clusters for NSMAF Gene

Neutral sphingomyelinase (N-SMase) activation associated factor:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for NSMAF Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20a · 20b ^ 21 ^ 22 ^ 23 ^ 24a ·
SP1: - - -
SP2:
SP3: -
SP4:
SP5:
SP6:

ExUns: 24b ^ 25 ^ 26 ^ 27a · 27b · 27c ^ 28 ^ 29 ^ 30a · 30b ^ 31 ^ 32 ^ 33a · 33b
SP1: - -
SP2:
SP3: -
SP4:
SP5:
SP6:

Relevant External Links for NSMAF Gene

GeneLoc Exon Structure for
NSMAF
ECgene alternative splicing isoforms for
NSMAF

Expression for NSMAF Gene

mRNA expression in normal human tissues for NSMAF Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for NSMAF Gene

This gene is overexpressed in Lymph node (26.2), Spleen (7.3), and Blymphocyte (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for NSMAF Gene



SOURCE GeneReport for Unigene cluster for NSMAF Gene Hs.372000

mRNA Expression by UniProt/SwissProt for NSMAF Gene

Q92636-FAN_HUMAN
Tissue specificity: Ubiquitous.
genes like me logo Genes that share expression patterns with NSMAF: view

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for NSMAF Gene

Orthologs for NSMAF Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for NSMAF Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia NSMAF 35
  • 85.1 (n)
  • 89.53 (a)
NSMAF 36
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NSMAF 35
  • 88.86 (n)
  • 92.77 (a)
NSMAF 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nsmaf 35
  • 87.71 (n)
  • 92.04 (a)
Nsmaf 16
Nsmaf 36
  • 90 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia NSMAF 35
  • 99.75 (n)
  • 99.89 (a)
NSMAF 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nsmaf 35
  • 87.28 (n)
  • 91.49 (a)
oppossum
(Monodelphis domestica)
Mammalia NSMAF 36
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NSMAF 36
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves NSMAF 35
  • 75.9 (n)
  • 79.52 (a)
NSMAF 36
  • 78 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NSMAF 36
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nsmaf 35
  • 70.56 (n)
  • 73.56 (a)
zebrafish
(Danio rerio)
Actinopterygii nsmaf 35
  • 67.78 (n)
  • 71.41 (a)
nsmaf 36
  • 70 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000429 35
  • 47.6 (n)
  • 41.5 (a)
worm
(Caenorhabditis elegans)
Secernentea T01H10.8 36
  • 6 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes BPH1 36
  • 11 (a)
OneToMany
Species with no ortholog for NSMAF:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for NSMAF Gene

ENSEMBL:
Gene Tree for NSMAF (if available)
TreeFam:
Gene Tree for NSMAF (if available)

Paralogs for NSMAF Gene

Paralogs for NSMAF Gene

(1) SIMAP similar genes for NSMAF Gene using alignment to 3 proteins:

Pseudogenes.org Pseudogenes for NSMAF Gene

genes like me logo Genes that share paralogs with NSMAF: view

Variants for NSMAF Gene

Sequence variations from dbSNP and Humsavar for NSMAF Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
rs2228505 - 58,595,575(-) GCACT(A/G/T)TAAAA reference, missense
VAR_047024 -
rs931396 -- 58,587,448(-) AAGTC(A/T)ACTTT intron-variant
rs973807 -- 58,658,728(+) AATGC(C/T)CTGGG intron-variant
rs1387222 -- 58,643,172(-) ATTCA(A/T)GAATG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for NSMAF Gene

Variant ID Type Subtype PubMed ID
nsv890938 CNV Gain 21882294
nsv890939 CNV Gain 21882294
nsv397168 CNV Loss 16902084
nsv831325 CNV Gain 17160897
esv271778 CNV Insertion 20981092

Variation tolerance for NSMAF Gene

Residual Variation Intolerance Score: 7.62% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.85; 79.34% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NSMAF Gene

HapMap Linkage Disequilibrium report
NSMAF
Human Gene Mutation Database (HGMD)
NSMAF

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NSMAF Gene

Disorders for NSMAF Gene

MalaCards: The human disease database

(1) MalaCards diseases for NSMAF Gene - From: GeneCards

Disorder Aliases PubMed IDs
8p11 myeloproliferative syndrome
  • chromosome 8p11 myeloproliferative syndrome
- elite association - COSMIC cancer census association via MalaCards
Search NSMAF in MalaCards View complete list of genes associated with diseases

Relevant External Links for NSMAF

Genetic Association Database (GAD)
NSMAF
Human Genome Epidemiology (HuGE) Navigator
NSMAF
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NSMAF
genes like me logo Genes that share disorders with NSMAF: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NSMAF Gene

Publications for NSMAF Gene

  1. FAN, a novel WD-repeat protein, couples the p55 TNF-receptor to neutral sphingomyelinase. (PMID: 8808629) Adam-Klages S. … Kroenke M. (Cell 1996) 2 3 4 67
  2. Assignment of the human FAN protein gene (NSMAF) to human chromosome region 8q12-->q13 by in situ hybridization. (PMID: 10640829) Zhang Y. … Schlegelberger B. (Cytogenet. Cell Genet. 1999) 2 3
  3. Inhibition of receptor internalization by monodansylcadaverine selectively blocks p55 tumor necrosis factor receptor death domain signaling. (PMID: 10187805) SchA1tze S. … KrAPnke M. (J. Biol. Chem. 1999) 3 23
  4. CD40 signals apoptosis through FAN-regulated activation of the sphingomyelin-ceramide pathway. (PMID: 10601289) SAcgui B. … Levade T. (J. Biol. Chem. 1999) 3 23
  5. Distinct adapter proteins mediate acid versus neutral sphingomyelinase activation through the p55 receptor for tumor necrosis factor. (PMID: 9620659) Adam-Klages S. … KrAPnke M. (J. Leukoc. Biol. 1998) 3 23

Products for NSMAF Gene

Sources for NSMAF Gene

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