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    SGMS1 sphingomyelin synthase 1 [ Homo sapiens (human) ]

    Gene ID: 259230, updated on 2-May-2024

    Summary

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    Official Symbol
    SGMS1provided by HGNC
    Official Full Name
    sphingomyelin synthase 1provided by HGNC
    Primary source
    HGNC:HGNC:29799
    See related
    Ensembl:ENSG00000198964 MIM:611573; AllianceGenome:HGNC:29799
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MOB; MOB1; SMS1; TMEM23; hmob33
    Summary
    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]
    Expression
    Ubiquitous expression in thyroid (RPKM 9.1), lung (RPKM 8.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    10q11.23
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (50305600..50625184, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (51153786..51472591, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (52065360..52383716, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2366 Neighboring gene N-acylsphingosine amidohydrolase 2 Neighboring gene Sharpr-MPRA regulatory region 2427 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3356 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3357 Neighboring gene dynein cytoplasmic 1 intermediate chain 2 pseudogene 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:52072847-52073346 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3358 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:52115322-52115522 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3359 Neighboring gene NANOG hESC enhancer GRCh37_chr10:52150757-52151283 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr10:52166919-52167712 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr10:52169740-52170240 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2367 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3360 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3361 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3362 Neighboring gene Sharpr-MPRA regulatory region 10759 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3363 Neighboring gene Sharpr-MPRA regulatory region 12597 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3364 Neighboring gene uncharacterized LOC124902424 Neighboring gene RNA, U7 small nuclear 107 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2368 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3365 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3366 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2369 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:52383585-52384113 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2371 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3368 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3367 Neighboring gene SGMS1 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3369 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3370 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3371 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3372 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3373 Neighboring gene SHQ1, H/ACA ribonucleoprotein assembly factor pseudogene 1 Neighboring gene BEN domain containing 3 pseudogene 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Overriding sorafenib resistance via blocking lipid metabolism and Ras by sphingomyelin synthase 1 inhibition in hepatocellular carcinoma. Lu H, et al. Cancer Chemother Pharmacol, 2021 Feb. PMID 33226447
    2. Regulation of human sphingomyelin synthase 1 translation through its 5'-untranslated region. Daian F, et al. FEBS Lett, 2020 Nov. PMID 33037626, Free PMC Article
    3. Differential lung tissue gene expression in males and females: implications for the susceptibility to develop COPD. van den Berge M, et al. Eur Respir J, 2019 Jul. PMID 31164434
    4. PECULIARITIES OF THE STRUCTURE AND EXPRESSION OF HUMAN SPHINGOMYELIN SYNTHASE 1 GENE (SGMS1). Filippenkov IB, et al. Tsitologiia, 2016. PMID 30191692
    5. Bcr-Abl regulation of sphingomyelin synthase 1 reveals a novel oncogenic-driven mechanism of protein up-regulation. Moorthi S, et al. FASEB J, 2018 Aug. PMID 29533737, Free PMC Article

    See all (65) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Human sphingomyelin synthase 1 generates diacylglycerol in the presence and absence of ceramide via multiple enzymatic activities.
      Title: Human sphingomyelin synthase 1 generates diacylglycerol in the presence and absence of ceramide via multiple enzymatic activities.
    2. Diacylglycerol kinase zeta interacts with sphingomyelin synthase 1 and sphingomyelin synthase-related protein via different regions.
      Title: Diacylglycerol kinase ζ interacts with sphingomyelin synthase 1 and sphingomyelin synthase-related protein via different regions.
    3. Sphingomyelin Biosynthesis Is Essential for Phagocytic Signaling during Mycobacterium tuberculosis Host Cell Entry.
      Title: Sphingomyelin Biosynthesis Is Essential for Phagocytic Signaling during Mycobacterium tuberculosis Host Cell Entry.
    4. Overriding sorafenib resistance via blocking lipid metabolism and Ras by sphingomyelin synthase 1 inhibition in hepatocellular carcinoma.
      Title: Overriding sorafenib resistance via blocking lipid metabolism and Ras by sphingomyelin synthase 1 inhibition in hepatocellular carcinoma.
    5. Regulation of human sphingomyelin synthase 1 translation through its 5'-untranslated region.
      Title: Regulation of human sphingomyelin synthase 1 translation through its 5'-untranslated region.
    6. Diacylglycerol kinase delta and sphingomyelin synthase-related protein functionally interact via their sterile alpha motif domains.
      Title: Diacylglycerol kinase δ and sphingomyelin synthase-related protein functionally interact via their sterile α motif domains.
    7. Chlamydia trachomatis-infected human cells convert ceramide to sphingomyelin without sphingomyelin synthases 1 and 2.
      Title: Chlamydia trachomatis-infected human cells convert ceramide to sphingomyelin without sphingomyelin synthases 1 and 2.
    8. Differential lung tissue gene expression in males and females: implications for the susceptibility to develop COPD.
      Title: Differential lung tissue gene expression in males and females: implications for the susceptibility to develop COPD.
    9. optively transferred wide-type B cells partially recovered B-cell activation and autoantibody production in SMS1 deficient bm12-induced lupus mice. Moreover, the SMS1 mRNA level in B cells of SLE patients was increased and positively correlated with the serum anti-dsDNA level, IgG and globulin titers.
      Title: Sphingomyelin synthase 1 enhances BCR signaling to promote lupus-like autoimmune response.
    10. SMS1 could inhibit EMT and the migration and invasion of MDAMB231 cells via TGFbeta/Smad signaling pathway.
      Title: Sphingomyelin synthase 1 regulates the epithelial‑to‑mesenchymal transition mediated by the TGF‑β/Smad pathway in MDA‑MB‑231 cells.
    Submit: New GeneRIF Correction See all GeneRIFs (46)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
    EBI GWAS Catalog
    Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC17342

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ceramide cholinephosphotransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables ceramide cholinephosphotransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables ceramide phosphoethanolamine synthase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables sphingomyelin synthase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables sphingomyelin synthase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables sphingomyelin synthase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables sphingomyelin synthase activity TAS
    Traceable Author Statement
    more info
    		  
    Process Evidence Code Pubs
    involved_in apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in ceramide biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within ceramide biosynthetic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of intrinsic apoptotic signaling pathway TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in sphingolipid biosynthetic process TAS
    Traceable Author Statement
    more info
    		  
    involved_in sphingomyelin biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in sphingomyelin biosynthetic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in Golgi membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in Golgi membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in Golgi membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in Golgi trans cisterna IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endoplasmic reticulum TAS
    Traceable Author Statement
    more info
    		 PubMed 
    is_active_in endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in membrane HDA PubMed 
    located_in nucleus TAS
    Traceable Author Statement
    more info
    		 PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    phosphatidylcholine:ceramide cholinephosphotransferase 1
    Names
    medulla oblongata-derived protein
    protein Mob
    transmembrane protein 23
    NP_671512.1
    XP_005269732.1
    XP_011537885.1
    XP_011537886.1
    XP_047280929.1
    XP_047280930.1
    XP_047280931.1
    XP_047280932.1
    XP_047280933.1
    XP_047280934.1
    XP_047280936.1
    XP_047280937.1
    XP_047280938.1
    XP_047280939.1
    XP_054221410.1
    XP_054221411.1
    XP_054221412.1
    XP_054221413.1
    XP_054221414.1
    XP_054221415.1
    XP_054221416.1
    XP_054221417.1

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_147156.4 → NP_671512.1  phosphatidylcholine:ceramide cholinephosphotransferase 1

      See identical proteins and their annotated locations for NP_671512.1

      Status: REVIEWED

      Source sequence(s)
      AY332650, BC042899, BM141853, BM764008
      Consensus CDS
      CCDS7240.1
      UniProtKB/Swiss-Prot
      D3DWC4, Q68U43, Q6EKK0, Q75SP1, Q86VZ5
      Related
      ENSP00000354829.2, ENST00000361781.7
      Conserved Domains (2) summary
      cd09514
      Location:1 → 72
      SAM_SGMS1; SAM domain of sphingomyelin synthase
      pfam14360
      Location:276 → 349
      PAP2_C; PAP2 superfamily C-terminal

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      50305600..50625184 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047424974.1 → XP_047280930.1  phosphatidylcholine:ceramide cholinephosphotransferase 1 isoform X1

      UniProtKB/Swiss-Prot
      D3DWC4, Q68U43, Q6EKK0, Q75SP1, Q86VZ5

    2. XM_047424973.1 → XP_047280929.1  phosphatidylcholine:ceramide cholinephosphotransferase 1 isoform X1

      UniProtKB/Swiss-Prot
      D3DWC4, Q68U43, Q6EKK0, Q75SP1, Q86VZ5

    3. XM_047424975.1 → XP_047280931.1  phosphatidylcholine:ceramide cholinephosphotransferase 1 isoform X1

      UniProtKB/Swiss-Prot
      D3DWC4, Q68U43, Q6EKK0, Q75SP1, Q86VZ5

    4. XM_047424976.1 → XP_047280932.1  phosphatidylcholine:ceramide cholinephosphotransferase 1 isoform X1

      UniProtKB/Swiss-Prot
      D3DWC4, Q68U43, Q6EKK0, Q75SP1, Q86VZ5

    5. XM_047424977.1 → XP_047280933.1  phosphatidylcholine:ceramide cholinephosphotransferase 1 isoform X1

      UniProtKB/Swiss-Prot
      D3DWC4, Q68U43, Q6EKK0, Q75SP1, Q86VZ5

    6. XM_005269675.2 → XP_005269732.1  phosphatidylcholine:ceramide cholinephosphotransferase 1 isoform X1

      See identical proteins and their annotated locations for XP_005269732.1

      UniProtKB/Swiss-Prot
      D3DWC4, Q68U43, Q6EKK0, Q75SP1, Q86VZ5
      Conserved Domains (2) summary
      cd09514
      Location:1 → 72
      SAM_SGMS1; SAM domain of sphingomyelin synthase
      pfam14360
      Location:276 → 349
      PAP2_C; PAP2 superfamily C-terminal

    7. XM_047424978.1 → XP_047280934.1  phosphatidylcholine:ceramide cholinephosphotransferase 1 isoform X1

      UniProtKB/Swiss-Prot
      D3DWC4, Q68U43, Q6EKK0, Q75SP1, Q86VZ5

    8. XM_011539583.3 → XP_011537885.1  phosphatidylcholine:ceramide cholinephosphotransferase 1 isoform X1

      See identical proteins and their annotated locations for XP_011537885.1

      UniProtKB/Swiss-Prot
      D3DWC4, Q68U43, Q6EKK0, Q75SP1, Q86VZ5
      Conserved Domains (2) summary
      cd09514
      Location:1 → 72
      SAM_SGMS1; SAM domain of sphingomyelin synthase
      pfam14360
      Location:276 → 349
      PAP2_C; PAP2 superfamily C-terminal

    9. XM_047424982.1 → XP_047280938.1  phosphatidylcholine:ceramide cholinephosphotransferase 1 isoform X3

      UniProtKB/TrEMBL
      E6ZCI6

    10. XM_047424981.1 → XP_047280937.1  phosphatidylcholine:ceramide cholinephosphotransferase 1 isoform X3

      UniProtKB/TrEMBL
      E6ZCI6
      Related
      ENSP00000406795.2, ENST00000429490.5

    11. XM_011539584.4 → XP_011537886.1  phosphatidylcholine:ceramide cholinephosphotransferase 1 isoform X2

      UniProtKB/TrEMBL
      E6ZCI7
      Conserved Domains (2) summary
      cd09514
      Location:1 → 72
      SAM_SGMS1; SAM domain of sphingomyelin synthase
      smart00454
      Location:4 → 68
      SAM; Sterile alpha motif

    12. XM_047424980.1 → XP_047280936.1  phosphatidylcholine:ceramide cholinephosphotransferase 1 isoform X2

    13. XM_047424983.1 → XP_047280939.1  phosphatidylcholine:ceramide cholinephosphotransferase 1 isoform X4

    RNA

    1. XR_007061953.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      51153786..51472591 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054365435.1 → XP_054221410.1  phosphatidylcholine:ceramide cholinephosphotransferase 1 isoform X1

      UniProtKB/Swiss-Prot
      D3DWC4, Q68U43, Q6EKK0, Q75SP1, Q86VZ5

    2. XM_054365436.1 → XP_054221411.1  phosphatidylcholine:ceramide cholinephosphotransferase 1 isoform X1

      UniProtKB/Swiss-Prot
      D3DWC4, Q68U43, Q6EKK0, Q75SP1, Q86VZ5

    3. XM_054365437.1 → XP_054221412.1  phosphatidylcholine:ceramide cholinephosphotransferase 1 isoform X1

      UniProtKB/Swiss-Prot
      D3DWC4, Q68U43, Q6EKK0, Q75SP1, Q86VZ5

    4. XM_054365441.1 → XP_054221416.1  phosphatidylcholine:ceramide cholinephosphotransferase 1 isoform X3

      UniProtKB/TrEMBL
      E6ZCI6

    5. XM_054365440.1 → XP_054221415.1  phosphatidylcholine:ceramide cholinephosphotransferase 1 isoform X3

      UniProtKB/TrEMBL
      E6ZCI6

    6. XM_054365438.1 → XP_054221413.1  phosphatidylcholine:ceramide cholinephosphotransferase 1 isoform X2

    7. XM_054365439.1 → XP_054221414.1  phosphatidylcholine:ceramide cholinephosphotransferase 1 isoform X2

    8. XM_054365442.1 → XP_054221417.1  phosphatidylcholine:ceramide cholinephosphotransferase 1 isoform X4

    RNA

    1. XR_008488192.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q86VZ5.3 GenPept UniProtKB/Swiss-Prot:Q86VZ5

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