SGMS1 - sphingomyelin synthase 1 Gene

Also Known as MOB; MOB1; SMS1; TMEM23; hmob33

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 259230

About SGMS1

Cytogenetic location: 10q11.23 Genomic coordinates (GRCh38): 10:50,305,600-50,625,184 (from NCBI)

This gene has 11 transcripts (splice variants), 199 orthologues and 2 paralogues. Ubiquitous expression in thyroid (RPKM 9.1), lung (RPKM 8.8) and 25 other tissues.

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]

SGMS1 Products (1)

mRNA Protein Name
NM_147156.4 NP_671512.1 phosphatidylcholine:ceramide cholinephosphotransferase 1

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables ceramide cholinephosphotransferase activity IDA
IDA: Inferred from direct assay
14685263 GOA
enables ceramide phosphoethanolamine synthase activity IDA
IDA: Inferred from direct assay
25605874 GOA
enables sphingomyelin synthase activity IDA
IDA: Inferred from direct assay
17982138 GOA
enables sphingomyelin synthase activity IMP
IMP: Inferred from mutant phenotype
14976195 GOA
Biological Process GO Annotation Evidence References Source
acts upstream of or within ceramide biosynthetic process IDA
IDA: Inferred from direct assay
25605874 GOA
involved in sphingomyelin biosynthetic process IDA
IDA: Inferred from direct assay
14685263 GOA
Cellular Component GO Annotation Evidence References Source
located in Golgi membrane IDA
IDA: Inferred from direct assay
14685263 GOA
located in Golgi trans cisterna IDA
IDA: Inferred from direct assay
14685263 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SGMS1 Protein Structure

SAM_1

SAM_1: SAM domain (Sterile alpha motif) (6 - 46)

PAP2_C

PAP2_C: PAP2 superfamily C-terminal (276 - 349)

  • 0
  • 100
  • 200
  • 300
  • 413 a.a.
Protein Preferred Names Protein Names

phosphatidylcholine:ceramide cholinephosphotransferase 1

  • medulla oblongata-derived protein

Related Diseases

Diseases Alias
Noonan Syndrome 2

  • NS2

  • Noonan Syndrome, Autosomal Recessive

  • Noonan Syndrome 2, Autosomal Recessive

  • Noonan Syndrome, Type 2
Niemann-Pick Disease

  • Sphingomyelin/Cholesterol Lipidosis

  • Niemann-Pick Diseases

  • Lipoid Histiocytosis

  • Sphingomyelin Lipidosis

  • Sphingomyelinase Deficiency Disease

  • Lipid Histiocytosis

  • Neuronal Cholesterol Lipidosis

  • Neuronal Lipidosis

  • Npd

  • Sphingomyelinase Deficiency

  • Niemann-Pick Disease, Type A
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS12805 SGMS1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Felis catus SGMS1 VGNC VGNC:65080
Mus musculus SGMS1 MGD MGI:2444110
Macaca mulatta SGMS1 VGNC VGNC:77341
Canis familiaris SGMS1 VGNC VGNC:46098
Bos taurus SGMS1 VGNC VGNC:34543
Rattus norvegicus SGMS1 RGD RGD:727912
Others SGMS1 NCBI