SGMS1 - sphingomyelin synthase 1 Gene

Homo sapiens

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

Gene ID: 259230 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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

PAP2_C

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS12805	SGMS1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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