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

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: mouse all
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Genomic context

Location:: 8q12.1

Exon count:: 39

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (58583504..58659853, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (59004662..59081032, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (59496063..59572412, complement)

Chromosome 8 - NC_000008.11 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: 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

these data identify a novel caspase-2-interacting factor, FAN, and expand the role for the enzyme in seemingly non-apoptotic cellular mechanisms.
Title: Caspase-2 associates with FAN through direct interaction and overlapping functionality.
The rs1050504 C > T genotype was observed to be significantly associated with an increased risk for developing pulmonary tuberculosis.
Title: New variant identified in major susceptibility locus to tuberculosis on chromosomal region 8q12-q13 in Moroccan population: a case control study.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Observational study of gene-disease association. (HuGE Navigator)
Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
Regulation of NSMAF by TNF-alpha involves PRKCD in lung epithelial cells.
Title: Regulation of neutral sphingomyelinase-2 (nSMase2) by tumor necrosis factor-alpha involves protein kinase C-delta in lung epithelial cells.
sphingolipid activator proteins like domain may stabilize the fold of acid sphingomyelinase
Title: Functional characterization of the postulated intramolecular sphingolipid activator protein domain of human acid sphingomyelinase.
The interaction of FAN with receptor for activated C-kinase 1 (RACK1) appears to be dependent on the folding of the WD repeats into a secondary structure, because no linear binding motifs are identified in the WD-repeat region of FAN.
Title: Interaction with factor associated with neutral sphingomyelinase activation, a WD motif-containing protein, identifies receptor for activated C-kinase 1 as a novel component of the signaling pathways of the p55 TNF receptor.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D8S1515 (e-PCR)
- UniSTS:39195

SHGC-24319 (e-PCR)
- UniSTS:39196

STS-W93092 (e-PCR)
- UniSTS:66169

RH11476 (e-PCR)
- UniSTS:50417

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

Process	Evidence Code	Pubs
involved_in ceramide metabolic process	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of amide metabolic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of lipid metabolic process	IEA Inferred from Electronic Annotation more info
involved_in regulation of membrane lipid metabolic process	IEA Inferred from Electronic Annotation more info
involved_in signal transduction	TAS Traceable Author Statement more info	PubMed
involved_in tumor necrosis factor-mediated signaling pathway	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
located_in membrane	IEA Inferred from Electronic Annotation 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; neutral sphingomyelinase (N-SMase) activation associated factor

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_001144772.1 → NP_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, ENST00000427130.7

Conserved Domains (5) summary

COG2319
Location:645 → 947

WD40; WD40 repeat [General function prediction only]

cd00200
Location:653 → 945

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:335 → 606

Beach; Beige/BEACH domain

sd00039
Location:664 → 701

7WD40; WD40 repeat [structural motif]

cl17171
Location:223 → 316

PH-like; Pleckstrin homology-like domain
NM_001412988.1 → NP_001399917.1 protein FAN isoform 3

Status: REVIEWED

Source sequence(s)

AC068522, AC092700
NM_001412989.1 → NP_001399918.1 protein FAN isoform 4

Status: REVIEWED

Source sequence(s)

AC068522, AC092700
NM_001412990.1 → NP_001399919.1 protein FAN isoform 5

Status: REVIEWED

Source sequence(s)

AC068522, AC092700
NM_001412991.1 → NP_001399920.1 protein FAN isoform 6

Status: REVIEWED

Source sequence(s)

AC068522, AC092700
NM_001412992.1 → NP_001399921.1 protein FAN isoform 7

Status: REVIEWED

Source sequence(s)

AC068522, AC092700
NM_001412993.1 → NP_001399922.1 protein FAN isoform 8

Status: REVIEWED

Source sequence(s)

AC068522, AC092700
NM_001412994.1 → NP_001399923.1 protein FAN isoform 9

Status: REVIEWED

Source sequence(s)

AC068522, AC092700
NM_001412995.1 → NP_001399924.1 protein FAN isoform 10

Status: REVIEWED

Source sequence(s)

AC068522, AC092700
NM_001412996.1 → NP_001399925.1 protein FAN isoform 6

Status: REVIEWED

Source sequence(s)

AC068522, AC092700
NM_001412997.1 → NP_001399926.1 protein FAN isoform 6

Status: REVIEWED

Source sequence(s)

AC068522, AC092700
NM_001412998.1 → NP_001399927.1 protein FAN isoform 11

Status: REVIEWED

Source sequence(s)

AC068522, AC092700
NM_001412999.1 → NP_001399928.1 protein FAN isoform 6

Status: REVIEWED

Source sequence(s)

AC068522, AC092700
NM_001413000.1 → NP_001399929.1 protein FAN isoform 6

Status: REVIEWED

Source sequence(s)

AC068522, AC092700
NM_001413001.1 → NP_001399930.1 protein FAN isoform 6

Status: REVIEWED

Source sequence(s)

AC068522, AC092700
NM_001413002.1 → NP_001399931.1 protein FAN isoform 12

Status: REVIEWED

Source sequence(s)

AC068522, AC092700
NM_001413003.1 → NP_001399932.1 protein FAN isoform 6

Status: REVIEWED

Source sequence(s)

AC068522, AC092700
NM_001413004.1 → NP_001399933.1 protein FAN isoform 6

Status: REVIEWED

Source sequence(s)

AC068522, AC092700
NM_001413005.1 → NP_001399934.1 protein FAN isoform 16

Status: REVIEWED

Source sequence(s)

AC068522, AC092700
NM_001413006.1 → NP_001399935.1 protein FAN isoform 13

Status: REVIEWED

Source sequence(s)

AC068522, AC092700
NM_001413007.1 → NP_001399936.1 protein FAN isoform 14

Status: REVIEWED

Source sequence(s)

AC068522
NM_001413008.1 → NP_001399937.1 protein FAN isoform 14

Status: REVIEWED

Source sequence(s)

AC068522
NM_001413009.1 → NP_001399938.1 protein FAN isoform 15

Status: REVIEWED

Source sequence(s)

AC068522
NM_003580.4 → NP_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:622 → 914

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:633 → 670

7WD40; WD40 repeat [structural motif]

pfam02138
Location:304 → 575

Beach; Beige/BEACH domain

cl17171
Location:192 → 285

PH-like; Pleckstrin homology-like domain

RNA

NR_182084.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC068522, AC092700

Related

ENST00000649465.1
NR_182085.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC068522, AC092700
NR_182086.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC068522, AC092700
NR_182087.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC068522, AC092700
NR_182088.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC068522, AC092700
NR_182089.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC068522, AC092700