Manteia

ENSMUSG00000028245

Mus musculus

Features

Gene ID:	ENSMUSG00000028245

Biological name :	Nsmaf

Synonyms :	neutral sphingomyelinase (N-SMase) activation associated factor / Nsmaf / O35242

Possible biological names infered from orthology :	neutral sphingomyelinase activation associated factor / Q92636

Species:	Mus musculus

Chr. number:	4
Strand:	-1
Band:	A1
Gene start:	6396207
Gene end:	6454271

Corresponding Affymetrix probe sets:	10511382 (MoGene1.0st) 1416412_at (Mouse Genome 430 2.0 Array)

Cross references:	Ensembl peptide - ENSMUSP00000029910 Ensembl peptide - ENSMUSP00000120980 NCBI entrez gene - 18201 See in Manteia. MGI - MGI:1341864 RefSeq - XM_011249944 RefSeq - NM_010945 RefSeq - XM_006537663 RefSeq - XM_006537664 RefSeq - XM_011249943 RefSeq - XM_006537662 RefSeq Peptide - NP_035075 swissprot - O35242 swissprot - A2AKK2 Ensembl - ENSMUSG00000028245

See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed

Ortholog prediction (from Ensembl)

Paralog prediction (from Ensembl)

Paralog name	ID	Similarity(%)
Nbeal2 / Q6ZQA0 / Neurobeachin-like protein 2 / Q6ZNJ1* / neurobeachin like 2*	ENSMUSG00000056724	28
Nbea / Q9EPN1 / Neurobeachin / Q8NFP9*	ENSMUSG00000027799	28
Lrba / LPS responsive beige-like anchor protein / P50851*	ENSMUSG00000028080	28
Wdfy3 / Q6VNB8 / WD repeat and FYVE domain containing 3 / Q8IZQ1*	ENSMUSG00000043940	27
Nbeal1 / neurobeachin like 1 / Q6ZS30*	ENSMUSG00000073664	27
Wdfy4 / WD repeat and FYVE domain containing 4 / Q6ZS81* / WDFY family member 4*	ENSMUSG00000051506	25
Lyst / lysosomal trafficking regulator / Q99698*	ENSMUSG00000019726	25
Wdr81 / Q5ND34 / WD repeat domain 81 / Q562E7*	ENSMUSG00000045374	12

Protein motifs (from Interpro)

Interpro ID	Name
IPR000409	BEACH domain
IPR001680	WD40 repeat
IPR004182	GRAM domain
IPR011993	PH-like domain superfamily
IPR015943	WD40/YVTN repeat-like-containing domain superfamily
IPR017986	WD40-repeat-containing domain
IPR023362	PH-BEACH domain
IPR036322	WD40-repeat-containing domain superfamily
IPR036372	BEACH domain superfamily

Gene Ontology (GO)

Type	GO ID	Term	Ev.Code
biological_process	GO:0043065	positive regulation of apoptotic process	IEA
biological_process	GO:0043085	positive regulation of catalytic activity	IEA
molecular_function	GO:0005123	death receptor binding	TAS
molecular_function	GO:0005515	protein binding	IEA
molecular_function	GO:0016230	sphingomyelin phosphodiesterase activator activity	IEA

Pathways (from Reactome)

Pathway description

TNFR1-mediated ceramide production

Phenotype (from MGI, Zfin or HPO)

ID	Phenotype	Definition	Genetic BG
MP:0002444	abnormal T cell physiology	"anomalous response of T lymphocytes" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Shh^tm1Chg/Shh^tm1Chg Genetic Background: involves: C57BL/6
MP:0002796	impaired skin barrier function	"impaired ability of the skin to regulate water loss; frequently leads to dehydration" [J:56641]	Show Allelic Composition: Shh^tm1Chg/Shh^tm1Chg Genetic Background: involves: C57BL/6
MP:0008734	decreased susceptibility to endotoxin shock	"less than the expected early reaction of the microcirculation to endotoxins such as LPS, characterized by movement of fluid and leukocytes from the blood into extravascular tissues and often resulting in death" [MGI:tmeehan "Terry Meehan, Mouse Genome Informatics Curator"]	Show Allelic Composition: Shh^tm1Chg/Shh^tm1Chg Genetic Background: involves: C57BL/6

Interacting proteins (from Reactome)

Interactor ID	Name	Interaction type
ENSMUSG00000024401	Tnf / P06804 / tumor necrosis factor / P01375*	/ complex / reaction
ENSMUSG00000030341	P25118 / Tnfrsf1a / tumor necrosis factor receptor superfamily, member 1a / P19438* / TNF receptor superfamily member 1A*	/ complex / reaction
ENSMUSG00000019822	Smpd2 / O70572 / sphingomyelin phosphodiesterase 2, neutral / O60906* / sphingomyelin phosphodiesterase 2*	/ reaction / complex
ENSMUSG00000031906	Smpd3 / Q9JJY3 / sphingomyelin phosphodiesterase 3, neutral / Q9NY59* / sphingomyelin phosphodiesterase 3*	/ reaction / complex
ENSMUSG00000020372	Rack1 / P68040 / Receptor of activated protein C kinase 1 Receptor of activated protein C kinase 1, N-terminally processed / P63244* / receptor for activated C kinase 1*	/ reaction / complex

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		© Olivier Tassy / Olivier Pourquie 2007-2024 contact: otassy@igbmc.fr