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SGMS1 (sphingomyelin synthase 1)

Identity

Alias_namesTMEM23
transmembrane protein 23
Alias_symbol (synonym)MOB
MGC17342
SMS1
Other aliasMOB1
hmob33
HGNC (Hugo) SGMS1
LocusID (NCBI) 259230
Atlas_Id 49753
Location 10q11.23  [Link to chromosome band 10q11]
Location_base_pair Starts at 50305585 and ends at 50623977 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
EPB41L5 (2q14.2) / SGMS1 (10q11.23)MLLT10 (10p12.31) / SGMS1 (10q11.23)SGMS1 (10q11.23) / GAB2 (11q14.1)
SGMS1 (10q11.23) / GRID1 (10q23.1)SGMS1 (10q11.23) / KCTD8 (4p13)SGMS1 (10q11.23) / STK10 (5q35.1)
SGMS1 (10q11.23) / TUBGCP2 (10q26.3)SGMS1 (10q11.23) / VSTM4 (10q11.23)SGMS1 10q11.23 / GAB2 11q14.1
SGMS1 10q11.23 / GRID1 10q23.1SGMS1 10q11.23 / VSTM4 10q11.23

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 2 ]
  Lung: Translocations in Adenocarcinoma
Lung: Translocations in Squamous Cell Carcinoma


External links

Nomenclature
HGNC (Hugo)SGMS1   29799
Cards
Entrez_Gene (NCBI)SGMS1  259230  sphingomyelin synthase 1
AliasesMOB; MOB1; SMS1; TMEM23; 
hmob33
GeneCards (Weizmann)SGMS1
Ensembl hg19 (Hinxton)ENSG00000198964 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000198964 [Gene_View]  chr10:50305585-50623977 [Contig_View]  SGMS1 [Vega]
ICGC DataPortalENSG00000198964
TCGA cBioPortalSGMS1
AceView (NCBI)SGMS1
Genatlas (Paris)SGMS1
WikiGenes259230
SOURCE (Princeton)SGMS1
Genetics Home Reference (NIH)SGMS1
Genomic and cartography
GoldenPath hg38 (UCSC)SGMS1  -     chr10:50305585-50623977 -  10q11.23   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SGMS1  -     10q11.23   [Description]    (hg19-Feb_2009)
EnsemblSGMS1 - 10q11.23 [CytoView hg19]  SGMS1 - 10q11.23 [CytoView hg38]
Mapping of homologs : NCBISGMS1 [Mapview hg19]  SGMS1 [Mapview hg38]
OMIM611573   
Gene and transcription
Genbank (Entrez)###############################################################################################################################################################################################################################################################
RefSeq transcript (Entrez)NM_147156
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SGMS1
Cluster EST : UnigeneHs.654698 [ NCBI ]
CGAP (NCI)Hs.654698
Alternative Splicing GalleryENSG00000198964
Gene ExpressionSGMS1 [ NCBI-GEO ]   SGMS1 [ EBI - ARRAY_EXPRESS ]   SGMS1 [ SEEK ]   SGMS1 [ MEM ]
Gene Expression Viewer (FireBrowse)SGMS1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)259230
GTEX Portal (Tissue expression)SGMS1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ86VZ5   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ86VZ5  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ86VZ5
Splice isoforms : SwissVarQ86VZ5
Catalytic activity : Enzyme2.7.8.27 [ Enzyme-Expasy ]   2.7.8.272.7.8.27 [ IntEnz-EBI ]   2.7.8.27 [ BRENDA ]   2.7.8.27 [ KEGG ]   
PhosPhoSitePlusQ86VZ5
Domaine pattern : Prosite (Expaxy)SAM_DOMAIN (PS50105)   
Domains : Interpro (EBI)SAM    SAM/pointed    Sphingomyelin_synth-like_dom   
Domain families : Pfam (Sanger)PAP2_C (PF14360)   
Domain families : Pfam (NCBI)pfam14360   
Conserved Domain (NCBI)SGMS1
DMDM Disease mutations259230
Blocks (Seattle)SGMS1
SuperfamilyQ86VZ5
Human Protein AtlasENSG00000198964
Peptide AtlasQ86VZ5
HPRD18203
IPIIPI00014863   IPI00910188   IPI00929315   IPI00940559   IPI00418257   
Protein Interaction databases
DIP (DOE-UCLA)Q86VZ5
IntAct (EBI)Q86VZ5
FunCoupENSG00000198964
BioGRIDSGMS1
STRING (EMBL)SGMS1
ZODIACSGMS1
Ontologies - Pathways
QuickGOQ86VZ5
Ontology : AmiGOGolgi trans cisterna  Golgi membrane  ceramide phosphoethanolamine synthase activity  nucleus  endoplasmic reticulum  plasma membrane  integral component of plasma membrane  sphingomyelin biosynthetic process  apoptotic process  membrane  cell growth  kinase activity  phosphorylation  sphingolipid biosynthetic process  integral component of Golgi membrane  integral component of endoplasmic reticulum membrane  sphingomyelin synthase activity  sphingomyelin synthase activity  ceramide biosynthetic process  ceramide cholinephosphotransferase activity  
Ontology : EGO-EBIGolgi trans cisterna  Golgi membrane  ceramide phosphoethanolamine synthase activity  nucleus  endoplasmic reticulum  plasma membrane  integral component of plasma membrane  sphingomyelin biosynthetic process  apoptotic process  membrane  cell growth  kinase activity  phosphorylation  sphingolipid biosynthetic process  integral component of Golgi membrane  integral component of endoplasmic reticulum membrane  sphingomyelin synthase activity  sphingomyelin synthase activity  ceramide biosynthetic process  ceramide cholinephosphotransferase activity  
Pathways : KEGGSphingolipid metabolism   
NDEx NetworkSGMS1
Atlas of Cancer Signalling NetworkSGMS1
Wikipedia pathwaysSGMS1
Orthology - Evolution
OrthoDB259230
GeneTree (enSembl)ENSG00000198964
Phylogenetic Trees/Animal Genes : TreeFamSGMS1
HOVERGENQ86VZ5
HOGENOMQ86VZ5
Homologs : HomoloGeneSGMS1
Homology/Alignments : Family Browser (UCSC)SGMS1
Gene fusions - Rearrangements
Fusion : MitelmanSGMS1/GAB2 [10q11.23/11q14.1]  
Fusion : MitelmanSGMS1/GRID1 [10q11.23/10q23.1]  [t(10;10)(q11;q23)]  
Fusion : MitelmanSGMS1/KCTD8 [10q11.23/4p13]  [t(4;10)(p13;q11)]  
Fusion : MitelmanSGMS1/STK10 [10q11.23/5q35.1]  [t(5;10)(q35;q11)]  
Fusion : MitelmanSGMS1/VSTM4 [10q11.23/10q11.23]  [t(10;10)(q11;q11)]  
Fusion: TCGASGMS1 10q11.23 GAB2 11q14.1 LUAD
Fusion: TCGASGMS1 10q11.23 GRID1 10q23.1 HNSC
Fusion: TCGASGMS1 10q11.23 VSTM4 10q11.23 PRAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSGMS1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SGMS1
dbVarSGMS1
ClinVarSGMS1
1000_GenomesSGMS1 
Exome Variant ServerSGMS1
ExAC (Exome Aggregation Consortium)SGMS1 (select the gene name)
Genetic variants : HAPMAP259230
Genomic Variants (DGV)SGMS1 [DGVbeta]
DECIPHERSGMS1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSGMS1 
Mutations
ICGC Data PortalSGMS1 
TCGA Data PortalSGMS1 
Broad Tumor PortalSGMS1
OASIS PortalSGMS1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSGMS1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSGMS1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch SGMS1
DgiDB (Drug Gene Interaction Database)SGMS1
DoCM (Curated mutations)SGMS1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SGMS1 (select a term)
intoGenSGMS1
Cancer3DSGMS1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM611573   
Orphanet
MedgenSGMS1
Genetic Testing Registry SGMS1
NextProtQ86VZ5 [Medical]
TSGene259230
GENETestsSGMS1
Target ValidationSGMS1
Huge Navigator SGMS1 [HugePedia]
snp3D : Map Gene to Disease259230
BioCentury BCIQSGMS1
ClinGenSGMS1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD259230
Chemical/Pharm GKB GenePA162403042
Clinical trialSGMS1
Miscellaneous
canSAR (ICR)SGMS1 (select the gene name)
Probes
Litterature
PubMed41 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSGMS1
EVEXSGMS1
GoPubMedSGMS1
iHOPSGMS1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 12:55:17 CEST 2017

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