Aliases for SGMS1 Gene
Aliases for SGMS1 Gene
External Ids for SGMS1 Gene
- HGNC: 29799
- Entrez Gene: 259230
- Ensembl: ENSG00000198964
- OMIM: 611573
- UniProtKB: Q86VZ5
Previous HGNC Symbols for SGMS1 Gene
- TMEM23
Previous GeneCards Identifiers for SGMS1 Gene
- GC10M051736
- GC10M052065
- GC10M046064
Summaries 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 Metabolism and Cholesterol and Sphingolipids transport / Transport from Golgi and ER to the apical membrane (normal and CF). Gene Ontology (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.
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SGMS1 Gene
Genomics for SGMS1 Gene
GeneHancer (GH) Regulatory Elements for SGMS1 Gene
Promoters and enhancers for SGMS1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around SGMS1 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the SGMS1 gene promoter:
Regulatory Element Products
Genomic Locations for SGMS1 Gene
Genomic Locations for SGMS1 Gene
- chr10:50,305,585-50,625,163
- (GRCh38/hg38)
- Size:
- 319,579 bases
- Orientation:
- Minus strand
- chr10:52,065,345-52,384,923
- (GRCh37/hg19)
Genomic View for SGMS1 Gene
Genes around SGMS1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 10q11.23 by Ensembl
- 10q11.23 by Entrez Gene
- 10q11.23 by HGNC
SGMS1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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};
Protein Expression 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
No Post-translational modifications
Other Protein References for SGMS1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for SGMS1
- Novus Biologicals Antibodies for SGMS1
-
Abcam antibodies for SGMS1
- Invitrogen Antibodies for SGMS1
- GeneTex SGMS1 antibody for SGMS1
-
Santa Cruz Biotechnology (SCBT) Antibodies for SGMS1
Protein Products
-
OriGene Purified Proteins for SGMS1
- Search Origene for MassSpec and Protein Over-expression Lysates for SGMS1
- Origene Custom Protein Services for SGMS1
- Novus Biologicals proteins for SGMS1
- Search GeneTex for Proteins for SGMS1
-
Abcam proteins for SGMS1
Assay Products
Domains & Families for SGMS1 Gene
Gene Families for SGMS1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
- Predicted membrane proteins
Protein Domains for SGMS1 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for SGMS1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q86VZ5- Family:
-
- Belongs to the sphingomyelin synthase family.
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
Phenotypes From GWAS Catalog 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 |
Phenotypes for SGMS1 Gene
- MGI mutant phenotypes for SGMS1:
- inferred from 3 alleles
- GenomeRNAi human phenotypes for SGMS1:
Animal Models for SGMS1 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for SGMS1
-
-
ViGene Biosciences lentiviral particle packaged cDNA for SGMS1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for SGMS1 gene
- Search ViGene Biosciences for SGMS1
CRISPR Products
-
OriGene CRISPR knockouts for SGMS1
- Applied Biological Materials CRISPR for SGMS1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for SGMS1
- GenScript: Design CRISPR guide RNA sequences for SGMS1
miRNA for SGMS1 Gene
- miRTarBase miRNAs that target SGMS1
-
- hsa-mir-130b-3p (MIRT020298)
- hsa-mir-124-3p (MIRT022767)
- hsa-mir-98-5p (MIRT027614)
- hsa-mir-93-5p (MIRT028169)
- hsa-mir-33a-5p (MIRT028233)
- hsa-mir-744-5p (MIRT037396)
- hsa-mir-142-3p (MIRT439646)
- hsa-mir-4477a (MIRT468174)
- hsa-mir-4775 (MIRT468175)
- hsa-mir-5094 (MIRT468176)
- hsa-mir-4328 (MIRT468177)
- hsa-mir-32-3p (MIRT468178)
- hsa-mir-519c-3p (MIRT468179)
- hsa-mir-519b-3p (MIRT468180)
- hsa-mir-519a-3p (MIRT468181)
- hsa-mir-526b-3p (MIRT468182)
- hsa-mir-519d-3p (MIRT468183)
- hsa-mir-20b-5p (MIRT468184)
- hsa-mir-20a-5p (MIRT468185)
- hsa-mir-17-5p (MIRT468186)
- hsa-mir-106b-5p (MIRT468187)
- hsa-mir-106a-5p (MIRT468188)
- hsa-mir-548t-5p (MIRT468189)
- hsa-mir-548az-5p (MIRT468190)
- hsa-mir-27b-3p (MIRT726600)
- hsa-mir-27a-3p (MIRT726601)
- hsa-mir-181c-5p (MIRT732576)
- hsa-let-7a-3p (MIRT735562)
- hsa-let-7b-3p (MIRT735591)
- hsa-let-7f-1-3p (MIRT735699)
- hsa-mir-125b-1-3p (MIRT736644)
- hsa-mir-1273g-5p (MIRT736838)
- hsa-mir-186-3p (MIRT738276)
- hsa-mir-300 (MIRT739608)
- hsa-mir-323a-5p (MIRT741220)
- hsa-mir-3621 (MIRT741757)
- hsa-mir-3656 (MIRT741933)
- hsa-mir-379-3p (MIRT742777)
- hsa-mir-380-3p (MIRT742784)
- hsa-mir-381-3p (MIRT742791)
- hsa-mir-3924 (MIRT742987)
- hsa-mir-411-3p (MIRT743236)
- hsa-mir-4495 (MIRT745335)
- hsa-mir-4666a-3p (MIRT746785)
- hsa-mir-4733-5p (MIRT747972)
- hsa-mir-520d-5p (MIRT750233)
- hsa-mir-524-5p (MIRT750288)
- hsa-mir-605-5p (MIRT751665)
- hsa-mir-656-5p (MIRT753494)
- hsa-mir-876-3p (MIRT760360)
- hsa-mir-98-3p (MIRT760931)
miRNA Products
- Search ViGene Biosciences for SGMS1
Inhibitory RNA Products
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-
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Clone Products
- Sino Biological Human cDNA Clone for SGMS1
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- VectorBuilder custom plasmid, inducible vectors for SGMS1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for SGMS1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- genomics-online: cdna clones - Search results for 137 available Sphingomyelin Synthase 1 gene related products
- Overview of 137 available Sphingomyelin Synthase 1 gene related products
- orf clones - Search results for 137 available Sphingomyelin Synthase 1 gene related products
- Overview of 137 available Sphingomyelin Synthase 1 gene related products
- Applied Biological Materials Clones for SGMS1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for SGMS1
-
ViGene Biosciences adenoviral particle packaged cDNA for SGMS1 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for SGMS1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for SGMS1 gene
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.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| nucleus | 5 |
| golgi apparatus | 5 |
| endoplasmic reticulum | 4 |
| peroxisome | 3 |
| cytosol | 2 |
| endosome | 1 |
- Cytosol (2)
- Golgi apparatus (2)
- Nucleoli fibrillar center (2)
- Nucleoplasm (2)
| 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 |
Pathways & Interactions for SGMS1 Gene
Pathways by source for SGMS1 Gene
2 BioSystems pathways for SGMS1 Gene
4 Reactome pathways for SGMS1 Gene
3 KEGG pathways for SGMS1 Gene
1 GeneGo (Thomson Reuters) pathway for SGMS1 Gene
Interacting Proteins 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:0016310 | phosphorylation | IEA | -- |
No data available for SIGNOR curated interactions for SGMS1 Gene
Drugs & Compounds for SGMS1 Gene
| 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)) |
|
|
Transcripts for SGMS1 Gene
mRNA/cDNA for SGMS1 Gene
- (5) REFSEQ mRNAs :
- (17) Additional mRNA sequences :
- (132) Selected AceView cDNA sequences:
- (11) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for SGMS1 Gene
CRISPR Products
-
OriGene CRISPR knockouts for SGMS1
- Applied Biological Materials CRISPR for SGMS1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for SGMS1
- GenScript: Design CRISPR guide RNA sequences for SGMS1
miRNA Products
- Search ViGene Biosciences for SGMS1
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for SGMS1
- Browse OriGene Inhibitory RNA Products For SGMS1
-
ViGene Biosciences ready-to-package AAV shRNAs for SGMS1 gene
Clone Products
- Sino Biological Human cDNA Clone for SGMS1
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for SGMS1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for SGMS1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- genomics-online: cdna clones - Search results for 137 available Sphingomyelin Synthase 1 gene related products
- Overview of 137 available Sphingomyelin Synthase 1 gene related products
- orf clones - Search results for 137 available Sphingomyelin Synthase 1 gene related products
- Overview of 137 available Sphingomyelin Synthase 1 gene related products
- Applied Biological Materials Clones for SGMS1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for SGMS1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
- Neural Tube (Nervous System)
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
NURSA nuclear receptor signaling pathways regulating expression of SGMS1 Gene:
SGMS1SOURCE GeneReport for Unigene cluster for SGMS1 Gene:
Hs.654698mRNA 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)
Primer Products
-
OriGene qPCR primer pairs for SGMS1
-
OriGene qPCR primer pairs and template standards for SGMS1
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | SGMS1 33 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Sgms1 33 16 34 |
|
||
| cow (Bos Taurus) |
Mammalia | SGMS1 33 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Sgms1 33 |
|
||
| dog (Canis familiaris) |
Mammalia | SGMS1 33 34 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | SGMS1 34 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | SGMS1 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | SGMS1 33 34 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | SGMS1 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | sgms1 33 |
|
||
| Str.15768 33 |
|
||||
| zebrafish (Danio rerio) |
Actinopterygii | SGMS1 (2 of 2) 34 |
|
OneToMany | |
| sgms1 33 34 |
|
||||
| wufi06d09 33 |
|
||||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP008926 33 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | sms-1 33 |
|
||
| W07E6.3 34 |
|
ManyToMany | |||
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.10588 34 |
|
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)
Paralogs for SGMS1 Gene
(3) SIMAP similar genes for SGMS1 Gene using alignment to 7 proteins:
Variants for SGMS1 Gene
| SNP ID | Clin | Chr 10 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1000026532 | -- | 50,313,763(-) | A/C | genic_downstream_transcript_variant, intron_variant | |
| rs1000032684 | -- | 50,443,744(-) | TTTTTTT/TTTTTT | genic_upstream_transcript_variant, intron_variant | |
| rs1000037569 | -- | 50,488,310(-) | C/T | genic_upstream_transcript_variant, intron_variant | |
| rs1000038487 | -- | 50,398,245(-) | G/A | genic_upstream_transcript_variant, intron_variant | |
| rs1000042954 | -- | 50,360,539(-) | C/A | intron_variant |
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)
Additional Variant Information 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
Additional Disease Information for SGMS1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No disorders were found for SGMS1 Gene.
No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SGMS1 Gene
Publications for SGMS1 Gene
- Expression cloning of a human cDNA restoring sphingomyelin synthesis and cell growth in sphingomyelin synthase-defective lymphoid cells. (PMID: 14976195) Yamaoka S … Okazaki T (The Journal of biological chemistry 2004) 2 3 4 22 58
- Both sphingomyelin synthases SMS1 and SMS2 are required for sphingomyelin homeostasis and growth in human HeLa cells. (PMID: 17449912) Tafesse FG … Holthuis JC (The Journal of biological chemistry 2007) 3 4 22 58
- Adenovirus-mediated overexpression of sphingomyelin synthases 1 and 2 increases the atherogenic potential in mice. (PMID: 16508036) Dong J … Jiang XC (Journal of lipid research 2006) 3 4 22 58
- In vitro and in silico analysis of the predicted human MOB gene encoding a phylogenetically conserved transmembrane protein. (PMID: 11841947) Vladychenskaya IP … Limborska SA (Biomolecular engineering 2002) 2 3 4 58
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
Products for SGMS1 Gene
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- Plasmid Preparation
- GenScript Custom Peptide Services for SGMS1
- Sino Biological Human cDNA Clone for SGMS1
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse Sino Biological ELISA Kits
- Browse Sino Biological ELISA Pair Sets
- Browse Sino Biological CRO Services
- Browse Sino Biological Control Vectors
- Sino Biological Transfection Reagent
- Sino Biological Anti-His Tag Antibody
- Novus Biologicals Antibodies for SGMS1
- Novus Biologicals proteins for SGMS1
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Abcam antibodies for SGMS1
- Abcam proteins for SGMS1
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
- Browse Secondary Antibodies
- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- Browse Antibodies at Cloud-Clone Corp.
- Browse Proteins at Cloud-Clone Corp.
- Browse Assay Kits at Cloud-Clone Corp.
- Browse Knockouts at Cloud-Clone Corp.
- Browse Knockins at Cloud-Clone Corp.
- Cloud-Clone Corp. disease models service
- Browse cDNA clones at Cloud-Clone Corp.
- Browse primers at Cloud-Clone Corp.
- Cloud-Clone Corp. primary cells service
- Invitrogen Antibodies for SGMS1
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Cyagen custom Knockout/knockin (KOKI) mouse models for SGMS1
- VectorBuilder custom plasmid, inducible vectors for SGMS1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for SGMS1
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- antibodies-online: Search results for 57 available Sphingomyelin Synthase 1 Antibodies ranked by validation data
- Compare Top Sphingomyelin Synthase 1 Antibodies
- antibodies-online: Search results for 6 available Sphingomyelin Synthase 1 Elisa Kits ranked by validation data
- Compare Top Sphingomyelin Synthase 1 Elisa Kits
- antibodies-online: Search results for 3 available Sphingomyelin Synthase 1 Proteins ranked by validation data
- Compare Top Sphingomyelin Synthase 1 Proteins
- GeneTex SGMS1 antibody for SGMS1
- Search GeneTex for Proteins for SGMS1
- ViGene Biosciences adenoviral particle packaged cDNA for SGMS1 gene
- ViGene Biosciences lentiviral particle packaged cDNA for SGMS1 gene
- ViGene Biosciences ready-to-package AAV shRNAs for SGMS1 gene
- Search ViGene Biosciences for SGMS1
- Santa Cruz Biotechnology (SCBT) Antibodies for SGMS1
- Search Santa Cruz Biotechnology (SCBT) for SGMS1 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for SGMS1
- Horizon Cell Lines for SGMS1
- genomics-online: cdna clones - Search results for 137 available Sphingomyelin Synthase 1 gene related products
- Overview of 137 available Sphingomyelin Synthase 1 gene related products
- orf clones - Search results for 137 available Sphingomyelin Synthase 1 gene related products
- Overview of 137 available Sphingomyelin Synthase 1 gene related products
- genomics-online: gRNA clones - Search results for 137 available Sphingomyelin Synthase 1 gene related products
- Overview of 137 available Sphingomyelin Synthase 1 gene related products
- genomics-online: primer clones - Search results for 137 available Sphingomyelin Synthase 1 gene related products
- Overview of 137 available Sphingomyelin Synthase 1 gene related products
- genomics-online: shRNA clones - Search results for 137 available Sphingomyelin Synthase 1 gene related products
- Overview of 137 available Sphingomyelin Synthase 1 gene related products
Sources for SGMS1 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew