U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

NSMAF neutral sphingomyelinase activation associated factor [ Homo sapiens (human) ]

Gene ID: 8439, updated on 17-Jun-2024

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; AllianceGenome:HGNC:8017
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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See NSMAF in Genome Data Viewer
Location:
8q12.1
Exon count:
39
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (58583504..58659853, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (59004662..59081032, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (59496063..59572412, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene peptidylprolyl isomerase A pseudogene 85 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:59465479-59466196 Neighboring gene syndecan binding protein Neighboring gene MED14-independent group 3 enhancer GRCh37_chr8:59507186-59508385 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27412 Neighboring gene ribosomal protein S26 pseudogene 7 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:59558003-59558563 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:59563765-59564489 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:59570852-59571415 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:59571416-59571978 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19219 Neighboring gene small nucleolar RNA U13 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:59581817-59582504 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr8:59584567-59585254 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:59612775-59613346 Neighboring gene uncharacterized LOC105375858

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 Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

Description
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
EBI GWAS Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables sphingomyelin phosphodiesterase activator activity IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in cytoplasm TAS
Traceable Author Statement
more info
PubMed 
located_in 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)

NEW Try the new Transcript table

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/TrEMBL
    B2RA06
    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_001412988.1NP_001399917.1  protein FAN isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC068522, AC092700
    UniProtKB/TrEMBL
    A8K9G4, B2RA06
  3. NM_001412989.1NP_001399918.1  protein FAN isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC068522, AC092700
    UniProtKB/TrEMBL
    A8K9G4, B2RA06
  4. NM_001412990.1NP_001399919.1  protein FAN isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC068522, AC092700
    UniProtKB/TrEMBL
    B2RA06
  5. NM_001412991.1NP_001399920.1  protein FAN isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC068522, AC092700
    UniProtKB/TrEMBL
    B2RA06
  6. NM_001412992.1NP_001399921.1  protein FAN isoform 7

    Status: REVIEWED

    Source sequence(s)
    AC068522, AC092700
    UniProtKB/TrEMBL
    B2RA06
  7. NM_001412993.1NP_001399922.1  protein FAN isoform 8

    Status: REVIEWED

    Source sequence(s)
    AC068522, AC092700
    UniProtKB/TrEMBL
    B2RA06
  8. NM_001412994.1NP_001399923.1  protein FAN isoform 9

    Status: REVIEWED

    Source sequence(s)
    AC068522, AC092700
    UniProtKB/TrEMBL
    B2RA06
  9. NM_001412995.1NP_001399924.1  protein FAN isoform 10

    Status: REVIEWED

    Source sequence(s)
    AC068522, AC092700
    UniProtKB/TrEMBL
    B2RA06
  10. NM_001412996.1NP_001399925.1  protein FAN isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC068522, AC092700
    UniProtKB/TrEMBL
    B2RA06
  11. NM_001412997.1NP_001399926.1  protein FAN isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC068522, AC092700
    UniProtKB/TrEMBL
    B2RA06
  12. NM_001412998.1NP_001399927.1  protein FAN isoform 11

    Status: REVIEWED

    Source sequence(s)
    AC068522, AC092700
    UniProtKB/TrEMBL
    B2RA06
  13. NM_001412999.1NP_001399928.1  protein FAN isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC068522, AC092700
    UniProtKB/TrEMBL
    B2RA06
  14. NM_001413000.1NP_001399929.1  protein FAN isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC068522, AC092700
    UniProtKB/TrEMBL
    B2RA06
  15. NM_001413001.1NP_001399930.1  protein FAN isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC068522, AC092700
    UniProtKB/TrEMBL
    B2RA06
  16. NM_001413002.1NP_001399931.1  protein FAN isoform 12

    Status: REVIEWED

    Source sequence(s)
    AC068522, AC092700
    UniProtKB/TrEMBL
    A8K9G4, B2RA06
  17. NM_001413003.1NP_001399932.1  protein FAN isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC068522, AC092700
    UniProtKB/TrEMBL
    B2RA06
  18. NM_001413004.1NP_001399933.1  protein FAN isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC068522, AC092700
    UniProtKB/TrEMBL
    B2RA06
  19. NM_001413005.1NP_001399934.1  protein FAN isoform 16

    Status: REVIEWED

    Source sequence(s)
    AC068522, AC092700
    UniProtKB/TrEMBL
    B2RA06
  20. NM_001413006.1NP_001399935.1  protein FAN isoform 13

    Status: REVIEWED

    Source sequence(s)
    AC068522, AC092700
    UniProtKB/TrEMBL
    B2RA06
  21. NM_001413007.1NP_001399936.1  protein FAN isoform 14

    Status: REVIEWED

    Source sequence(s)
    AC068522
  22. NM_001413008.1NP_001399937.1  protein FAN isoform 14

    Status: REVIEWED

    Source sequence(s)
    AC068522
  23. NM_001413009.1NP_001399938.1  protein FAN isoform 15

    Status: REVIEWED

    Source sequence(s)
    AC068522
  24. 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
    B4DFB0, E9PCH0, Q8IW26, Q92636
    UniProtKB/TrEMBL
    B2RA06
    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

RNA

  1. NR_182084.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC068522, AC092700
    Related
    ENST00000649465.1
  2. NR_182085.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC068522, AC092700
  3. NR_182086.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC068522, AC092700
  4. NR_182087.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC068522, AC092700
  5. NR_182088.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC068522, AC092700
  6. NR_182089.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC068522, AC092700

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    58583504..58659853 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047422320.1XP_047278276.1  protein FAN isoform X1

    UniProtKB/TrEMBL
    B2RA06

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    59004662..59081032 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054361353.1XP_054217328.1  protein FAN isoform X1

    UniProtKB/TrEMBL
    B2RA06