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Aliases for SGMS1 Gene

Aliases for SGMS1 Gene

  • Sphingomyelin Synthase 1 2 3 4 5
  • Transmembrane Protein 23 2 3 4
  • Phosphatidylcholine:Ceramide Cholinephosphotransferase 1 2 3
  • Medulla Oblongata-Derived Protein 3 4
  • Protein Mob 3 4
  • EC 2.7.8.27 4 61
  • TMEM23 3 4
  • SMS1 3 4
  • MOB 3 4
  • Hmob33 3
  • MOB1 3

External Ids for SGMS1 Gene

Previous HGNC Symbols for SGMS1 Gene

  • TMEM23

Previous GeneCards Identifiers for SGMS1 Gene

  • GC10M051736
  • GC10M052065
  • GC10M046064

Summaries for SGMS1 Gene

Entrez Gene Summary for SGMS1 Gene

  • 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]

GeneCards Summary for SGMS1 Gene

SGMS1 (Sphingomyelin Synthase 1) is a Protein Coding gene. Among its related pathways are Sphingolipid metabolism and sphingomyelin metabolism/ceramide salvage. GO annotations related to this gene include kinase activity and ceramide cholinephosphotransferase activity. An important paralog of this gene is SGMS2.

UniProtKB/Swiss-Prot for SGMS1 Gene

  • 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 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SGMS1 Gene

Genomics for SGMS1 Gene

Regulatory Elements for SGMS1 Gene

Enhancers for SGMS1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH10G050554 1.6 Ensembl ENCODE dbSUPER 19.2 +69.3 69310 2.6 HDGF PKNOX1 CREB3L1 SIN3A DMAP1 ZNF2 FOS ZNF263 SP3 REST SGMS1 BEND3P1 SGMS1-AS1 SHQ1P1 RNU7-107P GC10P050546 GC10M050591
GH10G050549 1.6 Ensembl ENCODE dbSUPER 19.1 +74.8 74791 1.7 HDGF PKNOX1 CREB3L1 ARNT YBX1 ZNF766 CBX5 REST SMARCB1 ZNF592 SGMS1 SGMS1-AS1 SHQ1P1 RNU7-107P BEND3P1 GC10P050546 GC10M050591
GH10G050575 1.6 Ensembl ENCODE dbSUPER 17.2 +46.8 46828 6.2 HDGF PKNOX1 FOXA2 CREB3L1 ARNT ZNF766 CBX5 FOS ZHX2 JUNB SGMS1 SGMS1-AS1 SHQ1P1 BEND3P1 ASAH2B GC10M050591 GC10P050546
GH10G050551 1.4 Ensembl ENCODE dbSUPER 19.2 +72.7 72654 1.5 PKNOX1 CBX3 ATF1 TBL1XR1 FEZF1 RAD21 ZBTB40 ZNF335 ZNF366 ZNF263 SGMS1 SGMS1-AS1 SHQ1P1 RNU7-107P GC10P050546 GC10M050591
GH10G050538 1.4 Ensembl ENCODE dbSUPER 18.7 +86.0 86020 1.3 FOXA2 ARID4B TCF12 GATA2 SP5 MIER2 TBX21 ZNF592 KAT8 PBX2 SGMS1 SGMS1-AS1 RNU7-107P SHQ1P1 BEND3P1 GC10P050546 ENSG00000225303
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SGMS1 on UCSC Golden Path with GeneCards custom track

Promoters for SGMS1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000028018 1163 4001 CREB3L1 AGO1 DMAP1 YY1 ZNF143 ZNF263 SP3 TBX21 ZNF610 GLIS1

Genomic Location for SGMS1 Gene

Chromosome:
10
Start:
50,305,585 bp from pter
End:
50,625,163 bp from pter
Size:
319,579 bases
Orientation:
Minus strand

Genomic View for SGMS1 Gene

Genes around SGMS1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SGMS1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SGMS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SGMS1 Gene

Proteins for SGMS1 Gene

  • Protein details for SGMS1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86VZ5-SMS1_HUMAN
    Recommended name:
    Phosphatidylcholine:ceramide cholinephosphotransferase 1
    Protein Accession:
    Q86VZ5
    Secondary Accessions:
    • Q68U43
    • Q6EKK0
    • Q75SP1

    Protein attributes for SGMS1 Gene

    Size:
    419 amino acids
    Molecular mass:
    49208 Da
    Quaternary structure:
    No Data Available
    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.
    SequenceCaution:
    • Sequence=AAH42899.1; Type=Miscellaneous discrepancy; Note=Unusual initiator. The initiator methionine is coded by a non-canonical CTG leucine codon.; Evidence={ECO:0000305}; Sequence=AAP37279.1; Type=Miscellaneous discrepancy; Note=Unusual initiator. The initiator methionine is coded by a non-canonical CTG leucine codon.; Evidence={ECO:0000305}; Sequence=AAQ22363.1; Type=Miscellaneous discrepancy; Note=Unusual initiator. The initiator methionine is coded by a non-canonical CTG leucine codon.; Evidence={ECO:0000305}; Sequence=AAQ82051.1; Type=Miscellaneous discrepancy; Note=Unusual initiator. The initiator methionine is coded by a non-canonical CTG leucine codon.; Evidence={ECO:0000305}; Sequence=AK026683; Type=Miscellaneous discrepancy; Note=Unusual initiator. The initiator methionine is coded by a non-canonical CTG leucine codon.; Evidence={ECO:0000305}; Sequence=BAD16809.1; Type=Miscellaneous discrepancy; Note=Unusual initiator. The initiator methionine is coded by a non-canonical CTG leucine codon.; Evidence={ECO:0000305}; Sequence=CAD79708.1; Type=Miscellaneous discrepancy; Note=Unusual initiator. The initiator methionine is coded by a non-canonical CTG leucine codon.; Evidence={ECO:0000305};

    Alternative splice isoforms for SGMS1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SGMS1 Gene

Selected DME Specific Peptides for SGMS1 Gene

Q86VZ5:
  • QWLLLKYKSIISRRFFCIV
  • PDGSFSIK
  • MIETLKM
  • FTGQDLINLT
  • LTLTYLFIKEYSPR
  • TLYLYRCITMYVTTLPVPGMHF
  • VVHERVPPKE
  • CSPKLFGDWE
  • PEYCEPL
  • EAHKNGH
  • RVQWAFSICEINGMILVGLWL
  • AYYITTRLFWWYH
  • NLLARVWWY
  • GGGLSITGSH
  • PFQYFEKNVQGIVPRSYHWPFPWPV

Post-translational modifications for SGMS1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

Domains & Families for SGMS1 Gene

Gene Families for SGMS1 Gene

Protein Domains for SGMS1 Gene

Graphical View of Domain Structure for InterPro Entry

Q86VZ5

UniProtKB/Swiss-Prot:

SMS1_HUMAN :
  • Belongs to the sphingomyelin synthase family.
Family:
  • Belongs to the sphingomyelin synthase family.
genes like me logo Genes that share domains with SGMS1: view

Function for SGMS1 Gene

Molecular function for SGMS1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
A ceramide + a phosphatidylcholine = a sphingomyelin + a 1,2-diacyl-sn-glycerol.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by bacterial PC-phospholipase C inhibitor D609.
UniProtKB/Swiss-Prot 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.

Enzyme Numbers (IUBMB) for SGMS1 Gene

Gene Ontology (GO) - Molecular Function for SGMS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002950 ceramide phosphoethanolamine synthase activity IDA 25605874
GO:0016301 kinase activity IEA --
GO:0033188 sphingomyelin synthase activity TAS,IEA --
GO:0047493 ceramide cholinephosphotransferase activity IDA 14685263
genes like me logo Genes that share ontologies with SGMS1: view
genes like me logo Genes that share phenotypes with SGMS1: view

Animal Models for SGMS1 Gene

MGI Knock Outs for SGMS1:

Animal Model Products

CRISPR Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SGMS1 Gene

Localization for SGMS1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SGMS1 Gene

Golgi apparatus membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SGMS1 gene
Compartment Confidence
plasma membrane 5
nucleus 5
golgi apparatus 5
endoplasmic reticulum 4
peroxisome 3
cytosol 2
mitochondrion 1
endosome 1

Gene Ontology (GO) - Cellular Components for SGMS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000138 Golgi trans cisterna IDA 14685263
GO:0000139 Golgi membrane TAS --
GO:0005634 nucleus TAS 14976195
GO:0005783 endoplasmic reticulum TAS 14976195
GO:0005886 plasma membrane TAS 14976195
genes like me logo Genes that share ontologies with SGMS1: view

Pathways & Interactions for SGMS1 Gene

genes like me logo Genes that share pathways with SGMS1: view

Gene Ontology (GO) - Biological Process for SGMS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006686 sphingomyelin biosynthetic process IDA 14685263
GO:0006915 apoptotic process IEA --
GO:0006954 inflammatory response IEA --
GO:0010628 positive regulation of gene expression IEA --
GO:0016049 cell growth IDA,IEA 14976195
genes like me logo Genes that share ontologies with SGMS1: view

No data available for SIGNOR curated interactions for SGMS1 Gene

Drugs & Compounds for SGMS1 Gene

(2) Drugs for SGMS1 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cytidine monophosphate Experimental Pharma 0

(53) Additional Compounds for SGMS1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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))
genes like me logo Genes that share compounds with SGMS1: view

Transcripts for SGMS1 Gene

Unigene Clusters for SGMS1 Gene

Sphingomyelin synthase 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SGMS1 Gene

No ASD Table

Relevant External Links for SGMS1 Gene

GeneLoc Exon Structure for
SGMS1
ECgene alternative splicing isoforms for
SGMS1

Expression for SGMS1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SGMS1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SGMS1 Gene

This gene is overexpressed in Breast (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SGMS1 Gene



Protein tissue co-expression partners for SGMS1 Gene

NURSA nuclear receptor signaling pathways regulating expression of SGMS1 Gene:

SGMS1

SOURCE GeneReport for Unigene cluster for SGMS1 Gene:

Hs.654698

mRNA Expression by UniProt/SwissProt for SGMS1 Gene:

Q86VZ5-SMS1_HUMAN
Tissue specificity: Brain, heart, kidney, liver, muscle and stomach.

Evidence on tissue expression from TISSUES for SGMS1 Gene

  • Nervous system(4.7)
  • Lung(4.2)
genes like me logo Genes that share expression patterns with SGMS1: view

Primer Products

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for SGMS1 Gene

Orthologs for SGMS1 Gene

This gene was present in the common ancestor of animals.

Orthologs for SGMS1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SGMS1 34 35
  • 99.52 (n)
mouse
(Mus musculus)
Mammalia Sgms1 34 16 35
  • 94.35 (n)
cow
(Bos Taurus)
Mammalia SGMS1 34 35
  • 92.74 (n)
rat
(Rattus norvegicus)
Mammalia Sgms1 34
  • 92.74 (n)
dog
(Canis familiaris)
Mammalia SGMS1 34 35
  • 87.41 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SGMS1 35
  • 85 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SGMS1 35
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves SGMS1 34 35
  • 82.57 (n)
lizard
(Anolis carolinensis)
Reptilia SGMS1 35
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sgms1 34
  • 71.48 (n)
Str.15768 34
zebrafish
(Danio rerio)
Actinopterygii SGMS1 (2 of 2) 35
  • 66 (a)
OneToMany
sgms1 34 35
  • 65.92 (n)
wufi06d09 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008926 34
  • 52.84 (n)
worm
(Caenorhabditis elegans)
Secernentea sms-1 34
  • 48.03 (n)
W07E6.3 35
  • 23 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10588 35
  • 45 (a)
OneToMany
Species where no ortholog for SGMS1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SGMS1 Gene

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

Paralogs for SGMS1 Gene

Paralogs for SGMS1 Gene

(3) SIMAP similar genes for SGMS1 Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with SGMS1: view

Variants for SGMS1 Gene

Sequence variations from dbSNP and Humsavar for SGMS1 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs1000026532 -- 50,313,763(+) TGAGC(A/C)AGAAA intron-variant
rs1000032684 -- 50,443,744(+) AAGAC(-/T)TTTTT intron-variant
rs1000037569 -- 50,488,310(+) GCACT(C/T)GGCCT intron-variant
rs1000038487 -- 50,398,245(+) ATCAG(A/G)CTCTA intron-variant
rs1000042954 -- 50,360,539(+) CTACT(A/C)CCACT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SGMS1 Gene

Variant ID Type Subtype PubMed ID
dgv128e214 CNV loss 21293372
dgv139e199 CNV deletion 23128226
dgv853n100 CNV gain 25217958
esv1008534 CNV insertion 20482838
esv2500927 CNV deletion 19546169
esv2665424 CNV deletion 23128226
esv2736629 CNV deletion 23290073
esv2762864 CNV gain 21179565
esv3308238 CNV mobile element insertion 20981092
esv3331843 CNV insertion 20981092
esv3376756 CNV insertion 20981092
esv3623195 CNV gain 21293372
esv3623198 CNV loss 21293372
esv3623199 CNV gain 21293372
esv3623201 CNV loss 21293372
esv3623203 CNV loss 21293372
esv3623204 CNV gain 21293372
esv3623205 CNV gain 21293372
esv3623207 CNV gain 21293372
esv3623209 CNV loss 21293372
esv3623210 CNV gain 21293372
esv3623211 CNV loss 21293372
esv3891808 CNV loss 25118596
esv3891809 CNV gain 25118596
nsv1051087 CNV loss 25217958
nsv1053293 CNV gain 25217958
nsv467193 CNV gain 19166990
nsv469522 CNV loss 16826518
nsv521273 CNV gain 19592680
nsv550855 CNV gain 21841781
nsv8660 CNV gain 18304495
nsv8661 CNV gain 18304495
nsv950963 CNV duplication 24416366

Variation tolerance for SGMS1 Gene

Residual Variation Intolerance Score: 26.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.41; 9.05% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SGMS1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SGMS1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SGMS1 Gene

Disorders for SGMS1 Gene

Relevant External Links for SGMS1

Genetic Association Database (GAD)
SGMS1
Human Genome Epidemiology (HuGE) Navigator
SGMS1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SGMS1

No disorders were found for SGMS1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SGMS1 Gene

Publications for SGMS1 Gene

  1. Expression cloning of a human cDNA restoring sphingomyelin synthesis and cell growth in sphingomyelin synthase-defective lymphoid cells. (PMID: 14976195) Yamaoka S. … Okazaki T. (J. Biol. Chem. 2004) 2 3 4 22 64
  2. Both sphingomyelin synthases SMS1 and SMS2 are required for sphingomyelin homeostasis and growth in human HeLa cells. (PMID: 17449912) Tafesse F.G. … Holthuis J.C.M. (J. Biol. Chem. 2007) 3 4 22 64
  3. Adenovirus-mediated overexpression of sphingomyelin synthases 1 and 2 increases the atherogenic potential in mice. (PMID: 16508036) Dong J. … Jiang X.-C. (J. Lipid Res. 2006) 3 4 22 64
  4. In vitro and in silico analysis of the predicted human MOB gene encoding a phylogenetically conserved transmembrane protein. (PMID: 11841947) Vladychenskaya I.P. … Limborska S.A. (Biomol. Eng. 2002) 2 3 4 64
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64

Products for SGMS1 Gene

Sources for SGMS1 Gene

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