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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
  • Medulla Oblongata-Derived Protein 3 4
  • Protein Mob 3 4
  • EC 2.7.8.27 4 63
  • TMEM23 3 4
  • SMS1 3 4
  • MOB 3 4
  • Phosphatidylcholine:Ceramide Cholinephosphotransferase 1 2
  • 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 Cholesterol and Sphingolipids transport / Transport from Golgi and ER to the apical membrane (normal and CF) 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 SAMD8.

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 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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

ENSRs around SGMS1 on UCSC Golden Path with GeneCards custom track

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

Proteomics data for SGMS1 Gene at MOPED

Post-translational modifications for SGMS1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SGMS1 Gene

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 :
  • Contains 1 SAM (sterile alpha motif) domain.
  • Belongs to the sphingomyelin synthase family.
Domain:
  • Contains 1 SAM (sterile alpha motif) domain.
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

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 Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for SGMS1 Gene COMPARTMENTS Subcellular localization image for SGMS1 gene
Compartment Confidence
golgi apparatus 5
nucleus 5
plasma membrane 5
endoplasmic reticulum 4
peroxisome 3
cytosol 2
endosome 1

Gene Ontology (GO) - Cellular Components for SGMS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
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:0010628 positive regulation of gene expression IEA --
GO:0071222 cellular response to lipopolysaccharide IEA --
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

(1) Drugs for SGMS1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(54) 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 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, MOPED, and MaxQB for SGMS1 Gene



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.
genes like me logo Genes that share expression patterns with SGMS1: view

Protein tissue co-expression partners for SGMS1 Gene

Primer Products

No data available for mRNA differential expression in normal tissues 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
cow
(Bos Taurus)
Mammalia SGMS1 35
  • 92.74 (n)
  • 95.88 (a)
SGMS1 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SGMS1 35
  • 87.41 (n)
  • 92.98 (a)
SGMS1 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sgms1 35
  • 94.35 (n)
  • 97.82 (a)
Sgms1 16
Sgms1 36
  • 96 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SGMS1 35
  • 99.52 (n)
  • 99.52 (a)
SGMS1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sgms1 35
  • 92.74 (n)
  • 97.34 (a)
oppossum
(Monodelphis domestica)
Mammalia SGMS1 36
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SGMS1 36
  • 85 (a)
OneToOne
chicken
(Gallus gallus)
Aves SGMS1 35
  • 82.57 (n)
  • 85.71 (a)
SGMS1 36
  • 86 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SGMS1 36
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sgms1 35
  • 71.48 (n)
  • 73.35 (a)
Str.15768 35
zebrafish
(Danio rerio)
Actinopterygii sgms1 35
  • 65.92 (n)
  • 68.16 (a)
wufi06d09 35
sgms1 36
  • 68 (a)
OneToMany
SGMS1 (2 of 2) 36
  • 66 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008926 35
  • 52.84 (n)
  • 47.87 (a)
worm
(Caenorhabditis elegans)
Secernentea sms-1 35
  • 48.03 (n)
  • 37.63 (a)
W07E6.3 36
  • 23 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10588 36
  • 45 (a)
OneToMany
Species with no ortholog for SGMS1:
  • 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
rs1436206 -- 50,360,852(-) TATTC(C/T)AGCTA intron-variant
rs1436208 -- 50,312,497(+) aaaaa(A/G)agact intron-variant
rs1436209 -- 50,312,637(+) ACTTA(A/G)AATTC intron-variant
rs1436210 -- 50,316,168(+) CCCCA(C/T)TAGGA intron-variant
rs1436211 -- 50,347,157(+) TCCCC(A/G)AAGAG intron-variant

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

Variant ID Type Subtype PubMed ID
nsv518071 CNV Gain 19592680
nsv521273 CNV Gain 19592680
esv2665424 CNV Deletion 23128226
esv2500927 CNV Deletion 19546169
esv2736629 CNV Deletion 23290073
dgv139e199 CNV Deletion 23128226
esv272512 CNV Insertion 20981092
esv269942 CNV Insertion 20981092
dgv703n71 CNV Gain 21882294
nsv467193 CNV Gain 19166990
nsv469522 CNV Loss 16826518
esv1008534 CNV Insertion 20482838
nsv8660 CNV Gain 18304495
nsv8661 CNV Gain 18304495

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)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links 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 23 67
  2. Caspase-mediated inhibition of sphingomyelin synthesis is involved in FasL-triggered cell death. (PMID: 19779494) Lafont E. … SAcgui B. (Cell Death Differ. 2010) 3 23
  3. 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 23
  4. Sphingomyelin synthase 1 suppresses ceramide production and apoptosis post-photodamage. (PMID: 17467659) Separovic D. … Bielawski J. (Biochem. Biophys. Res. Commun. 2007) 3 23
  5. Inhibition of sphingomyelin synthase (SMS) affects intracellular sphingomyelin accumulation and plasma membrane lipid organization. (PMID: 17616479) Li Z. … Jiang X.C. (Biochim. Biophys. Acta 2007) 3 23

Products for SGMS1 Gene

Sources for SGMS1 Gene

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