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Nsmaf Gene Detail
Summary
  • Symbol
    Nsmaf
  • Name
    neutral sphingomyelinase (N-SMase) activation associated factor
  • Synonyms
    factor associated with N-SMase activation, Fan
  • Feature Type
    protein coding gene
  • IDs
    MGI:1341864
    NCBI Gene: 18201
  • Alliance
    gene page
  • Transcription Start Sites
    9 TSS
Location &
Maps
more
  • Sequence Map
    Chr4:6396207-6454271 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 4, 2.91 cM, cytoband A1
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1631 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1341864
 protein coding gene Chr4:6396207-6454840 (-)
129S1/SvImJ MGP_129S1SvImJ_G0028036
 protein coding gene Chr4:2901724-2970521 (-)
A/J MGP_AJ_G0027994
 protein coding gene Chr4:2923939-2982000 (-)
AKR/J MGP_AKRJ_G0027960
 protein coding gene Chr4:2915217-2975951 (-)
BALB/cJ MGP_BALBcJ_G0028006
 protein coding gene Chr4:2882114-2939253 (-)
C3H/HeJ MGP_C3HHeJ_G0027736
 protein coding gene Chr4:3051950-3109387 (-)
C57BL/6NJ MGP_C57BL6NJ_G0028449
 protein coding gene Chr4:3139652-3202446 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0025793
 protein coding gene Chr4:2664903-2719409 (-)
CAST/EiJ MGP_CASTEiJ_G0027189
 protein coding gene Chr4:2918844-2981171 (-)
CBA/J MGP_CBAJ_G0027711
 protein coding gene Chr4:3148645-3210015 (-)
DBA/2J MGP_DBA2J_G0027851
 protein coding gene Chr4:2898804-2957522 (-)
FVB/NJ MGP_FVBNJ_G0027818
 protein coding gene Chr4:2781901-2840130 (-)
LP/J MGP_LPJ_G0027962
 protein coding gene Chr4:2961237-3021193 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0027851
 protein coding gene Chr4:3365921-3427272 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0028508
 protein coding gene Chr4:2908280-2965648 (-)
PWK/PhJ MGP_PWKPhJ_G0026911
 protein coding gene Chr4:2934443-2992798 (-)
SPRET/EiJ MGP_SPRETEiJ_G0026741
 protein coding gene Chr4:2868298-2924857 (-)
WSB/EiJ MGP_WSBEiJ_G0027269
 protein coding gene Chr4:3011280-3070693 (-)



Homology
more
  • Human Ortholog
    NSMAF, neutral sphingomyelinase activation associated factor
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    NSMAF, neutral sphingomyelinase activation associated factor
  • Synonyms
    FAN, GRAMD5
  • Links
    NCBI Gene ID: 8439
    neXtProt AC: NX_Q92636
    UniProt: Q92636

  • Chr Location
    8q12.1; chr8:58583504-58659853 (-)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    5 phenotypes from 1 allele in 2 genetic backgrounds
    6 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Mice homozygous for a targeted null mutation show no gross phenotypic abnormalities but display delayed cutaneous barrier repair. In addition, D-galactosamine-sensitized homozygotes are partially resistant to LPS- and TNF-induced lethality.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    15
  • GO References
    6
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    728
  • Tissues
    13
  • cDNA Data
    14
  • Literature Summary
    2
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000028245 Ensembl Gene Model | MGI Sequence Detail 58065 C57BL/6J ±  kb
transcript ENSMUST00000029910 Ensembl | MGI Sequence Detail 3507 Not Applicable  
polypeptide ENSMUSP00000029910 Ensembl | MGI Sequence Detail 920 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 16
    cDNA 16

    Microarray probesets 3
Other
Accession IDs
less
MGI:2135553
References
more
  • Summaries
    All 35
    Developmental Gene Expression 2
    Gene Ontology 6
    Phenotypes 6
  • Earliest
    J:35486 Adam-Klages S, et al., FAN, a novel WD-repeat protein, couples the p55 TNF-receptor to neutral sphingomyelinase. Cell. 1996 Sep 20;86(6):937-47
  • Latest
    J:204092 Nusshold C, et al., Endocytosis and intracellular processing of BODIPY-sphingomyelin by murine CATH.a neurons. Biochim Biophys Acta. 2013 Dec;1831(12):1665-78
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory