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    SGMS1 sphingomyelin synthase 1 [ Homo sapiens (human) ]

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

    Summary

    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
    NEW
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    Try the new Transcript table

    Genomic context

    See SGMS1 in Genome Data Viewer
    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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
     
    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

    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)

    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_147156.4NP_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:172
      SAM_SGMS1; SAM domain of sphingomyelin synthase
      pfam14360
      Location:276349
      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_047424974.1XP_047280930.1  phosphatidylcholine:ceramide cholinephosphotransferase 1 isoform X1

      UniProtKB/Swiss-Prot
      D3DWC4, Q68U43, Q6EKK0, Q75SP1, Q86VZ5
    2. XM_047424973.1XP_047280929.1  phosphatidylcholine:ceramide cholinephosphotransferase 1 isoform X1

      UniProtKB/Swiss-Prot
      D3DWC4, Q68U43, Q6EKK0, Q75SP1, Q86VZ5
    3. XM_047424975.1XP_047280931.1  phosphatidylcholine:ceramide cholinephosphotransferase 1 isoform X1

      UniProtKB/Swiss-Prot
      D3DWC4, Q68U43, Q6EKK0, Q75SP1, Q86VZ5
    4. XM_047424976.1XP_047280932.1  phosphatidylcholine:ceramide cholinephosphotransferase 1 isoform X1

      UniProtKB/Swiss-Prot
      D3DWC4, Q68U43, Q6EKK0, Q75SP1, Q86VZ5
    5. XM_047424977.1XP_047280933.1  phosphatidylcholine:ceramide cholinephosphotransferase 1 isoform X1

      UniProtKB/Swiss-Prot
      D3DWC4, Q68U43, Q6EKK0, Q75SP1, Q86VZ5
    6. XM_005269675.2XP_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:172
      SAM_SGMS1; SAM domain of sphingomyelin synthase
      pfam14360
      Location:276349
      PAP2_C; PAP2 superfamily C-terminal
    7. XM_047424978.1XP_047280934.1  phosphatidylcholine:ceramide cholinephosphotransferase 1 isoform X1

      UniProtKB/Swiss-Prot
      D3DWC4, Q68U43, Q6EKK0, Q75SP1, Q86VZ5
    8. XM_011539583.3XP_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:172
      SAM_SGMS1; SAM domain of sphingomyelin synthase
      pfam14360
      Location:276349
      PAP2_C; PAP2 superfamily C-terminal
    9. XM_047424982.1XP_047280938.1  phosphatidylcholine:ceramide cholinephosphotransferase 1 isoform X3

      UniProtKB/TrEMBL
      E6ZCI6
    10. XM_047424981.1XP_047280937.1  phosphatidylcholine:ceramide cholinephosphotransferase 1 isoform X3

      UniProtKB/TrEMBL
      E6ZCI6
      Related
      ENSP00000406795.2, ENST00000429490.5
    11. XM_011539584.4XP_011537886.1  phosphatidylcholine:ceramide cholinephosphotransferase 1 isoform X2

      UniProtKB/TrEMBL
      E6ZCI7
      Conserved Domains (2) summary
      cd09514
      Location:172
      SAM_SGMS1; SAM domain of sphingomyelin synthase
      smart00454
      Location:468
      SAM; Sterile alpha motif
    12. XM_047424980.1XP_047280936.1  phosphatidylcholine:ceramide cholinephosphotransferase 1 isoform X2

    13. XM_047424983.1XP_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_054365435.1XP_054221410.1  phosphatidylcholine:ceramide cholinephosphotransferase 1 isoform X1

      UniProtKB/Swiss-Prot
      D3DWC4, Q68U43, Q6EKK0, Q75SP1, Q86VZ5
    2. XM_054365436.1XP_054221411.1  phosphatidylcholine:ceramide cholinephosphotransferase 1 isoform X1

      UniProtKB/Swiss-Prot
      D3DWC4, Q68U43, Q6EKK0, Q75SP1, Q86VZ5
    3. XM_054365437.1XP_054221412.1  phosphatidylcholine:ceramide cholinephosphotransferase 1 isoform X1

      UniProtKB/Swiss-Prot
      D3DWC4, Q68U43, Q6EKK0, Q75SP1, Q86VZ5
    4. XM_054365441.1XP_054221416.1  phosphatidylcholine:ceramide cholinephosphotransferase 1 isoform X3

      UniProtKB/TrEMBL
      E6ZCI6
    5. XM_054365440.1XP_054221415.1  phosphatidylcholine:ceramide cholinephosphotransferase 1 isoform X3

      UniProtKB/TrEMBL
      E6ZCI6
    6. XM_054365438.1XP_054221413.1  phosphatidylcholine:ceramide cholinephosphotransferase 1 isoform X2

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

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

    RNA

    1. XR_008488192.1 RNA Sequence