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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SGMS1 Gene

protein-coding   GIFtS: 60
GCID: GC10M052065

sphingomyelin synthase 1

(Previous name: transmembrane protein 23 )
(Previous symbol: TMEM23)
 Explore 4 diseases affiliated with
SGMS1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for SGMS1    

Aliases
for SGMS1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Sphingomyelin Synthase 11 2 3     Protein Mob2 3
MOB1 2 3 5     EC 2.7.8.273 8
SMS11 2 3 5     MGC173421
TMEM231 2 3 5     MOB12
Transmembrane Protein 231 2 3     Hmob331
Medulla Oblongata-Derived Protein2 3     Phosphatidylcholine:Ceramide Cholinephosphotransferase 12

External Ids:    HGNC: 297991   Entrez Gene: 2592302   Ensembl: ENSG000001989647   OMIM: 6115735   UniProtKB: Q86VZ53   

Export aliases for SGMS1 gene to outside databases

Previous GC identifers: GC10M051736 GC10M046064


Summaries
for SGMS1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for SGMS1:
The protein encoded by this gene is predicted to be a five-pass transmembrane protein. This gene may be predominately
expressed in brain. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: SMS1_HUMAN, Q86VZ5
Function: Sphingomyelin synthases synthesize the sphingolipid, sphingomyelin, through transfer of the phosphatidyl head
group, phosphatidylcholine, on to the primary hydroxyl of ceramide. The reaction is bidirectional depending on the
respective levels of the sphingolipid and ceramide. Golgi apparatus SMS1 directly and specifically recognizes the
choline head group on the substrate, requiring two fatty chains on the choline-P donor molecule in order to be
recognized efficiently as a substrate. Major form in macrophages. Required for cell growth in certain cell types such
as HeLa cells. Suppresses BAX-mediated apoptosis and also prevents cell death in response to stimuli such as hydrogen
peroxide, osmotic stress, elevated temperature and exogenously supplied sphingolipids. May protect against cell death
by reversing the stress-inducible increase in levels of proapoptotic ceramide

Gene Wiki entry for SGMS1


Genomic Views
for SGMS1 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000010.10  NC_018921.1  NT_030059.13  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SGMS1 gene promoter:
         MAZR   AP-2alpha isoform 3   p300   Lmo2   Nkx2-5   AP-2alpha isoform 2   S8   AP-2alpha isoform 4   AP-2alpha   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: SGMS1 promoter sequence
   Search SABiosciences Chromatin IP Primers for SGMS1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SGMS1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 10q11.2   Ensembl cytogenetic band:  10q11.23   HGNC cytogenetic band: 10q11.2

SGMS1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SGMS1 gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10M052065:  view genomic region     (about GC identifiers)

Start:
 52,065,345 bp from pter      End:
 52,384,795 bp from pter
Size:
 319,451 bases      Orientation:
 minus strand

Proteins
for SGMS1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: SMS1_HUMAN, Q86VZ5 (See protein sequence)
Recommended Name: Phosphatidylcholine:ceramide cholinephosphotransferase 1  
Size: 419 amino acids; 49208 Da
Subcellular location: Golgi apparatus membrane; Multi-pass membrane protein
Miscellaneous: Overexpression of the human protein in mouse causes increased non-HDL-sphingomyelin and non-HDL
cholesterol levels, decreased HDL-sphingomyelin and HDL-cholesterol levels and increases lipoprotein atherogenic
potential
Sequence caution: Sequence=AAH42899.1; Type=Miscellaneous discrepancy; Note=Unusual initiator. The initiator methionine
is coded by a non-canonical CTG leucine codon; Sequence=AAP37279.1; Type=Miscellaneous discrepancy; Note=Unusual
initiator. The initiator methionine is coded by a non-canonical CTG leucine codon; Sequence=AAQ22363.1;
Type=Miscellaneous discrepancy; Note=Unusual initiator. The initiator methionine is coded by a non-canonical CTG
leucine codon; Sequence=AAQ82051.1; Type=Miscellaneous discrepancy; Note=Unusual initiator. The initiator methionine
is coded by a non-canonical CTG leucine codon; Sequence=AK026683; Type=Miscellaneous discrepancy; Note=Unusual
initiator. The initiator methionine is coded by a non-canonical CTG leucine codon; Sequence=BAD16809.1;
Type=Miscellaneous discrepancy; Note=Unusual initiator. The initiator methionine is coded by a non-canonical CTG
leucine codon; Sequence=CAD79708.1; Type=Miscellaneous discrepancy; Note=Unusual initiator. The initiator methionine
is coded by a non-canonical CTG leucine codon;
Secondary accessions: Q68U43 Q6EKK0 Q75SP1
Alternative splicing: 2 isoforms:  Q86VZ5-1   Q86VZ5-2   

Explore the universe of human proteins at neXtProt for SGMS1: NX_Q86VZ5

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q86VZ5

    • 4/15 DME Specific Peptides for SGMS1 (Q86VZ5) (see all 15)
     EAHKNGH  MIETLKM  PEYCEPL  PDGSFSIK 

    SGMS1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_671512.1  
    ENSEMBL proteins: 
     ENSP00000354829   ENSP00000406795   ENSP00000355235  
    Reactome Protein details: Q86VZ5
    Human Recombinant Protein Products: 
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    OriGene Protein Over-expression Lysate: SGMS1
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    Novus Biologicals SGMS1 Protein
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    Browse ProSpec Recombinant Proteins
    Uscn Proteins for SGMS1

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000138Golgi trans cisterna IDA14685263
    GO:0000139Golgi membrane TAS--
    GO:0005634nucleus TAS14976195
    GO:0005783endoplasmic reticulum TAS14976195
    GO:0005886plasma membrane TAS14976195


    SGMS1 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for SGMS1

    Protein Domains /
    Families
    for SGMS1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    SGMS1 for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR013761 SAM/pointed
     IPR001660 SAM
     IPR021129 SAM_type1
     IPR025749 Sphingomyelin_synth-like_dom

    Graphical View of Domain Structure for InterPro Entry Q86VZ5

    ProtoNet protein and cluster: Q86VZ5

    1 Blocks protein family: IPB001660 Sterile alpha motif SAM

    UniProtKB/Swiss-Prot: SMS1_HUMAN, Q86VZ5
    Similarity: Belongs to the sphingomyelin synthase family
    Similarity: Contains 1 SAM (sterile alpha motif) domain


    Function
    for SGMS1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: SMS1_HUMAN, Q86VZ5
    Function: Sphingomyelin synthases synthesize the sphingolipid, sphingomyelin, through transfer of the phosphatidyl head
    group, phosphatidylcholine, on to the primary hydroxyl of ceramide. The reaction is bidirectional depending on the
    respective levels of the sphingolipid and ceramide. Golgi apparatus SMS1 directly and specifically recognizes the
    choline head group on the substrate, requiring two fatty chains on the choline-P donor molecule in order to be
    recognized efficiently as a substrate. Major form in macrophages. Required for cell growth in certain cell types such
    as HeLa cells. Suppresses BAX-mediated apoptosis and also prevents cell death in response to stimuli such as hydrogen
    peroxide, osmotic stress, elevated temperature and exogenously supplied sphingolipids. May protect against cell death
    by reversing the stress-inducible increase in levels of proapoptotic ceramide
    Catalytic activity: A ceramide + a phosphatidylcholine = a sphingomyelin + a 1,2-diacyl-sn-glycerol
    Enzyme regulation: Inhibited by bacterial PC-phospholipase C inhibitor D609

    Enzyme Number (IUBMB): EC 2.7.8.271 2

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SGMS1
    8/34 QIAGEN miScript miRNA Assays for microRNAs that regulate SGMS1 (see all 34):
    hsa-miR-4307 hsa-miR-875-3p hsa-miR-520d-5p hsa-miR-376b hsa-miR-24-1* hsa-miR-128 hsa-miR-507 hsa-miR-4260
    SwitchGear 3'UTR luciferase reporter plasmid: SGMS1 3' UTR sequence
    Inhib. RNA
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    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for SGMS1

    Clone
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    In Situ Assay
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    Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016301kinase activity IEA--
    GO:0016740transferase activity ----
    GO:0033188sphingomyelin synthase activity IMP14976195
    GO:0047493ceramide cholinephosphotransferase activity IDA14685263


    SGMS1 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for SGMS1:
     Synthetic lethal with Ras 

    Animal Models:
         Mouse knock-out Sgms1tm1Kenw for SGMS1
         6 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Sgms1):
     adipose tissue  cellular  endocrine/exocrine gland  growth/size  homeostasis/metabolism 
     mortality/aging 

    SGMS1 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for SGMS1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Sphingolipid metabolism
    		Sphingolipid metabolism1.00
    		Sphingolipid de novo biosynthesis0.46
    		Sphingolipid metabolism0.54
    2Metabolism
    		Metabolism1.00
    		Metabolism of lipids and lipoproteins0.34
    		Metabolic pathways0.38
    3sphingomyelin metabolism
    		sphingomyelin metabolism1.00
    4IL2 signaling events mediated by PI3K
    		IL2 signaling events mediated by PI3K1.00
    5Coatomer:Arf1-GTP:GAP lattice formation on golgi membrane
    		Cholesterol and Sphingolipids transport / Transport from Golgi and ER to the apical membrane (normal and CF)0.32

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for SGMS1
        Cholesterol and Sphingolipids transport / Transport from Golgi and ER to the apical membrane (normal and CF)

    2 BioSystems Pathways for SGMS1 
        sphingomyelin metabolism
    IL2 signaling events mediated by PI3K

    4        Reactome Pathways for SGMS1
        Sphingolipid metabolism
    Metabolism
    Metabolism of lipids and lipoproteins
    Sphingolipid de novo biosynthesis


    2         Kegg Pathways  (Kegg details for SGMS1):
        Sphingolipid metabolism
    Metabolic pathways


    SGMS1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SGMS1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/37 Interacting proteins for SGMS1 (Q86VZ52, 3 ENSP000003548294) via UniProtKB, MINT, STRING, and/or I2D (see all 37)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ATXN1P542532, 3, ENSP000002447694MINT-2879310 I2D: score=3 STRING: ENSP00000244769
    ASAH1ENSP000003711524STRING: ENSP00000371152
    ASAH2ENSP000003788974STRING: ENSP00000378897
    CERKENSP000002162644STRING: ENSP00000216264
    DEGS1ENSP000003164764STRING: ENSP00000316476
    About this table

    Gene Ontology (GO): 5/12 biological process terms (GO ID links to tree view) (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006644phospholipid metabolic process TAS--
    GO:0006665sphingolipid metabolic process TAS--
    GO:0006686sphingomyelin biosynthetic process IDA14976195
    GO:0006915apoptotic process IEA--
    GO:0006954inflammatory response ----


    SGMS1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for SGMS1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    SGMS1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for SGMS1

    10/2027 HMDB Compounds for SGMS1 (see all 2027)    About this table
    CompoundSynonyms CAS #PubMed Ids
    PC(O-16:0/18:2(9Z,12Z))1-hexadecyl-2-(9Z,12Z-octadecadienoyl)-sn-glycero-3-phosphocholine (see all 5)88542-95-412486725
    Cer(d18:0/12:0) ----
    Cer(d18:0/14:0) ----
    Cer(d18:0/16:0) ----
    Cer(d18:0/18:0) ----
    Cer(d18:0/18:1(11Z)) ----
    Cer(d18:0/18:1(9Z)) ----
    Cer(d18:0/20:0) ----
    Cer(d18:0/22:0) ----
    Cer(d18:0/22:1(13Z)) ----
    4 Novoseek chemical compound relationships for SGMS1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    ceramide 67.7 10 17467659 (3), 17616479 (2), 19779494 (2), 14976195 (1) (see all 5)
    ceramides 64.8 2 17449912 (1), 17467659 (1)
    phosphorylcholine 60.4 1 14976195 (1)
    phosphatidylcholine 43.6 2 17616479 (1), 14976195 (1)

    Search CenterWatch for drugs/clinical trials and news about SGMS1 / SMS1 

    Transcripts
    for SGMS1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for SGMS1 gene: 
    NM_147156.3  

    Unigene Cluster for SGMS1:

    Sphingomyelin synthase 1
    Hs.654698  [show with all ESTs]
    Unigene Representative Sequence: NM_147156
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000361781(uc001jje.3 uc010qhk.2 uc021pqo.1 uc009xot.1 uc021pqq.1 uc009xou.1)
    ENST00000492601 ENST00000498514 ENST00000429490(uc021pqn.1 uc021pqr.1)
    ENST00000361543(uc021pqp.1)

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    hsa-miR-4307 hsa-miR-875-3p hsa-miR-520d-5p hsa-miR-376b hsa-miR-24-1* hsa-miR-128 hsa-miR-507 hsa-miR-4260
    SwitchGear 3'UTR luciferase reporter plasmid: SGMS1 3' UTR sequence
    Inhib. RNA
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    Clone
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    Additional cDNA sequence: 

    AB154421.1 AK026683.1 AK296233.1 AK311737.1 AY280959.1 AY312431.1 AY332650.1 AY364088.1 
    BC042899.1 FM210200.1 FN870365.1 FN908045.1 FN908146.1 FN985166.1 FN994181.1 FR686760.1 
    Y14155.1 

    16 DOTS entries:

    DT.413379  DT.121246906  DT.95372892  DT.121246851  DT.40288006  DT.100779407  DT.121246897  DT.121246935 
    DT.121246968  DT.40246766  DT.407315  DT.91648657  DT.91799428  DT.121246914  DT.91698764  DT.95283614 

    24/132 AceView cDNA sequences (see all 132):

    AL046079 AI278714 AW273195 AI452820 CK431035 AA282777 AW337123 AY332650 
    BQ638266 BI752115 BM142153 CK429221 BF445288 BM142014 BX403213 AA459293 
    AA459523 BQ023195 BU658426 AA313209 AY280959 BM141853 AB154421 AY364088 

    GeneLoc Exon Structure


    Expression
    for SGMS1 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SGMS1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TAACTCTAAG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    SGMS1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    BrainChoroid PlexusBrain
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See SGMS1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SGMS1

    SOURCE GeneReport for Unigene cluster: Hs.654698

    UniProtKB/Swiss-Prot: SMS1_HUMAN, Q86VZ5
    Tissue specificity: Brain, heart, kidney, liver, muscle and stomach

        SABiosciences Custom PCR Arrays for SGMS1
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    In Situ
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    Orthologs
    for SGMS1 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for SGMS1 gene from 6/18 species (see all 18)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves SGMS11 sphingomyelin synthase 1 82.57(n)
    85.71(a)    		   378907  NM_204390.2  NP_989721.2 
    lizard
    (Anolis carolinensis)    		 Reptilia SGMS16
    		 --
    		 85(a)
    		 1 ↔ 1
    		 GL343246.1(1304719-1316855)
    African clawed frog
    (Xenopus laevis)    		 Amphibia 480325942   -- 77.18(n)    48032594 
    zebrafish
    (Danio rerio)    		 Actinopterygii wufi06d092 Transcribed sequence with weak similarity to protein refNP_502169.1 (C.elegans) H21P03.3a.p [Caenorhabditis elegans] less 76.9(n)    AL920814.1 
    mosquito
    (Anopheles gambiae)    		 Insecta AgaP_AGAP0089261 AGAP008926-PA 52.84(n)
    47.87(a)    		   1279896  XM_319678.4  XP_319678.4 
    worm
    (Caenorhabditis elegans)    		 Secernentea sms-11 Protein SMS-1 47.17(n)
    37.91(a)    		   178072  NM_069768.3  NP_502169.1 


    ENSEMBL Gene Tree for SGMS1 (if available)
    TreeFam Gene Tree for SGMS1 (if available) 

    Paralogs
    for SGMS1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SGMS1 gene
    SAMD82  SGMS22  
    3 SIMAP similar genes for SGMS1 using alignment to 5 protein entries:     SMS1_HUMAN (see all proteins):
    TMEM23    SGMS2    SAMD8

    SGMS1 for paralogs           About GeneDecksing



    Genomic Variants
    for SGMS1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/5274 NCBI SNPs in SGMS1 are shown (see all 5274)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 10 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1503832271,2
    		--52065053(+) TACTGA/CCAGAT 1 -- ds50010--------
    rs1928319531,2
    		--52065114(+) AAACAC/TTGTTC 1 -- ds50010--------
    rs2020987421,2
    		--52065217(+) CAAGG-/AAAAAA 1 -- ds50010--------
    rs1378745371,2
    		--52065249(+) CCCATG/TTCAAG 1 -- ds50010--------
    rs1169314371,2
    		C,F,--52065414(+) NNNNCT/CAGGTA 1 -- ut311Minor allele frequency- C:0.02NA 120
    rs733289881,2
    		C,--52065646(+) CACATT/AGGCAA 1 -- ut312Minor allele frequency- A:0.14WA 120
    rs1490364871,2
    		--52065685(+) ATGTAC/TGTTAG 1 -- ut310--------
    rs1378845791,2
    		--52065736(+) CTTTT-/AAAG  
                AAATA     		1 -- ut310--------
    rs1167052811,2
    		F,--52065796(+) ATAACT/CAATTC 1 -- ut311Minor allele frequency- C:0.04WA 118
    rs2006838601,2
    		C--52065869(+) GGCTGG/TTNNNN 1 -- ut310--------

    HapMap Linkage Disequilibrium report for SGMS1 (52065345 - 52315345 bp, first 250kb of SGMS1)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 4 variations for SGMS1
         3 CNVs: 100945 30501 2156
         1 Indel: 33222

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    Disorders / Diseases
    for SGMS1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    SGMS1 for disorders           About GeneDecksing

    OMIM gene information: 611573    OMIM disorders: --

    4 diseases for SGMS1:    About MalaCards
    alzheimer's disease    colorectal cancer    ataxia    cholesterol

    2 Novoseek disease relationships for SGMS1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    warts 65.4 2 18245354 (1), 19913529 (1)
    tumors 1.27 9 15766530 (1), 18245354 (1), 19913529 (1), 17347649 (1) (see all 5)

    Human Genome Epidemiology (HuGE) Navigator: SGMS1 (2 documents)

    Export disorders for SGMS1 gene to outside databases

    Publications
    for SGMS1 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for SGMS1 gene, integrated from 9 sources (see all 52):
    (articles sorted by number of sources associating them with SGMS1)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Expression cloning of a human cDNA restoring sphingomyelin synthesis and cell growth in sphingomyelin synthase-defective lymphoid cells. (PubMed id 14976195)1, 2, 3, 9 Yamaoka S.... Okazaki T. (2004)
    2. In vitro and in silico analysis of the predicted human MOB gene encoding a phylogenetically conserved transmembrane protein. (PubMed id 11841947)1, 2, 3 Vladychenskaya I.P.... Limborska S.A. (2002)
    3. Adenovirus-mediated overexpression of sphingomyelin synthases 1 and 2 increases the atherogenic potential in mice. (PubMed id 16508036)1, 2, 9 Dong J.... Jiang X.-C. (2006)
    4. Both sphingomyelin synthases SMS1 and SMS2 are required for sphingomyelin homeostasis and growth in human HeLa cells. (PubMed id 17449912)1, 2, 9 Tafesse F.G.... Holthuis J.C.M. (2007)
    5. The domain responsible for sphingomyelin synthase (SMS) activity. (PubMed id 18694848)1, 2 Yeang C....Jiang X.C. (2008)
    6. Human gene MOB: structure specification and aspects of transcriptional activity. (PubMed id 15315829)1, 2 Vladychenskaya I.P.... Limborska S.A. (2004)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    8. Identification of a family of animal sphingomyelin synthases. (PubMed id 14685263)1, 2 Huitema K.... Holthuis J.C. (2004)
    9. Caspase-mediated inhibition of sphingomyelin synthesi s is involved in FasL-triggered cell death. (PubMed id 19779494)1, 9 Lafont E....SAcgui B. (2010)
    10. Inhibition of sphingomyelin synthase (SMS) affects intracellular sphingomyelin accumulation and plasma membrane lipid organization. (PubMed id 17616479)1, 9 Li Z....Jiang X.C. (2007)

    External Searches for SGMS1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing SGMS1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 259230 HGNC: 29799 AceView: TMEM23 Ensembl:ENSG00000198964 euGenes: HUgn259230
    ECgene: SGMS1 Kegg: 259230 H-InvDB: SGMS1

    Other Databases showing SGMS1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing SGMS1 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SGMS1 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for SGMS1 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for SGMS1 gene:
    Search GeneIP for patents involving SGMS1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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