Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	259230
Gene name	Sphingomyelin synthase 1
Gene symbol	SGMS1
Synonyms (NCBI Gene)	MOBMOB1SMS1TMEM23hmob33
Chromosome	10
Chromosome location	10q11.23
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]

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Show/Hide all (189)

miRTarBase ID	miRNA	Experiments	Reference
MIRT020298	hsa-miR-130b-3p	Sequencing	20371350
MIRT022767	hsa-miR-124-3p	Microarray	18668037
MIRT027614	hsa-miR-98-5p	Microarray	19088304
MIRT028169	hsa-miR-93-5p	Sequencing	20371350
MIRT028233	hsa-miR-33a-5p	Sequencing	20371350
MIRT037396	hsa-miR-744-5p	CLASH	23622248
MIRT468190	hsa-miR-548az-5p	PAR-CLIP	23592263
MIRT468189	hsa-miR-548t-5p	PAR-CLIP	23592263
MIRT468188	hsa-miR-106a-5p	PAR-CLIP	23592263
MIRT468187	hsa-miR-106b-5p	PAR-CLIP	23592263
MIRT468186	hsa-miR-17-5p	PAR-CLIP	23592263
MIRT468185	hsa-miR-20a-5p	PAR-CLIP	23592263
MIRT468184	hsa-miR-20b-5p	PAR-CLIP	23592263
MIRT468183	hsa-miR-519d-3p	PAR-CLIP	23592263
MIRT468182	hsa-miR-526b-3p	PAR-CLIP	23592263
MIRT028169	hsa-miR-93-5p	PAR-CLIP	23592263
MIRT468181	hsa-miR-519a-3p	PAR-CLIP	23592263
MIRT468180	hsa-miR-519b-3p	PAR-CLIP	23592263
MIRT468179	hsa-miR-519c-3p	PAR-CLIP	23592263
MIRT468178	hsa-miR-32-3p	PAR-CLIP	23592263
MIRT468176	hsa-miR-5094	PAR-CLIP	23592263
MIRT468177	hsa-miR-4328	PAR-CLIP	23592263
MIRT468175	hsa-miR-4775	PAR-CLIP	23592263
MIRT468174	hsa-miR-4477a	PAR-CLIP	23592263
MIRT439646	hsa-miR-142-3p	HITS-CLIP	22473208
MIRT439646	hsa-miR-142-3p	HITS-CLIP	22473208
MIRT726601	hsa-miR-27a-3p	HITS-CLIP	22473208
MIRT726600	hsa-miR-27b-3p	HITS-CLIP	22473208
MIRT468190	hsa-miR-548az-5p	PAR-CLIP	23592263
MIRT468189	hsa-miR-548t-5p	PAR-CLIP	23592263
MIRT468188	hsa-miR-106a-5p	PAR-CLIP	23592263
MIRT468187	hsa-miR-106b-5p	PAR-CLIP	23592263
MIRT468186	hsa-miR-17-5p	PAR-CLIP	23592263
MIRT468185	hsa-miR-20a-5p	PAR-CLIP	23592263
MIRT468184	hsa-miR-20b-5p	PAR-CLIP	23592263
MIRT468183	hsa-miR-519d-3p	PAR-CLIP	23592263
MIRT468182	hsa-miR-526b-3p	PAR-CLIP	23592263
MIRT028169	hsa-miR-93-5p	PAR-CLIP	23592263
MIRT468181	hsa-miR-519a-3p	PAR-CLIP	23592263
MIRT468180	hsa-miR-519b-3p	PAR-CLIP	23592263
MIRT468179	hsa-miR-519c-3p	PAR-CLIP	23592263
MIRT468178	hsa-miR-32-3p	PAR-CLIP	23592263
MIRT468176	hsa-miR-5094	PAR-CLIP	23592263
MIRT468177	hsa-miR-4328	PAR-CLIP	23592263
MIRT468175	hsa-miR-4775	PAR-CLIP	23592263
MIRT468174	hsa-miR-4477a	PAR-CLIP	23592263
MIRT1343359	hsa-miR-106a	CLIP-seq
MIRT1343360	hsa-miR-106b	CLIP-seq
MIRT1343361	hsa-miR-124	CLIP-seq
MIRT1343362	hsa-miR-1270	CLIP-seq
MIRT1343363	hsa-miR-128	CLIP-seq
MIRT1343364	hsa-miR-129-5p	CLIP-seq
MIRT1343365	hsa-miR-1321	CLIP-seq
MIRT1343366	hsa-miR-148a	CLIP-seq
MIRT1343367	hsa-miR-148b	CLIP-seq
MIRT1343368	hsa-miR-152	CLIP-seq
MIRT1343369	hsa-miR-154	CLIP-seq
MIRT1343370	hsa-miR-17	CLIP-seq
MIRT1343371	hsa-miR-183	CLIP-seq
MIRT1343372	hsa-miR-185	CLIP-seq
MIRT1343373	hsa-miR-197	CLIP-seq
MIRT1343374	hsa-miR-205	CLIP-seq
MIRT1343375	hsa-miR-20a	CLIP-seq
MIRT1343376	hsa-miR-20b	CLIP-seq
MIRT1343377	hsa-miR-2116	CLIP-seq
MIRT1343378	hsa-miR-224	CLIP-seq
MIRT1343379	hsa-miR-27a	CLIP-seq
MIRT1343380	hsa-miR-27b	CLIP-seq
MIRT1343381	hsa-miR-3121-5p	CLIP-seq
MIRT1343382	hsa-miR-3159	CLIP-seq
MIRT1343383	hsa-miR-3162-5p	CLIP-seq
MIRT1343384	hsa-miR-3177-5p	CLIP-seq
MIRT1343385	hsa-miR-320e	CLIP-seq
MIRT1343386	hsa-miR-3689d	CLIP-seq
MIRT1343387	hsa-miR-412	CLIP-seq
MIRT1343388	hsa-miR-4306	CLIP-seq
MIRT1343389	hsa-miR-4325	CLIP-seq
MIRT1343390	hsa-miR-450b-5p	CLIP-seq
MIRT1343391	hsa-miR-4531	CLIP-seq
MIRT1343392	hsa-miR-4642	CLIP-seq
MIRT1343393	hsa-miR-4644	CLIP-seq
MIRT1343394	hsa-miR-4653-3p	CLIP-seq
MIRT1343395	hsa-miR-4666-3p	CLIP-seq
MIRT1343396	hsa-miR-4739	CLIP-seq
MIRT1343397	hsa-miR-4756-5p	CLIP-seq
MIRT1343398	hsa-miR-4761-5p	CLIP-seq
MIRT1343399	hsa-miR-4768-5p	CLIP-seq
MIRT1343400	hsa-miR-488	CLIP-seq
MIRT1343401	hsa-miR-490-5p	CLIP-seq
MIRT1343402	hsa-miR-494	CLIP-seq
MIRT1343403	hsa-miR-506	CLIP-seq
MIRT1343404	hsa-miR-507	CLIP-seq
MIRT1343405	hsa-miR-512-3p	CLIP-seq
MIRT1343406	hsa-miR-513a-3p	CLIP-seq
MIRT1343407	hsa-miR-519a	CLIP-seq
MIRT1343408	hsa-miR-519d	CLIP-seq
MIRT1343409	hsa-miR-548ag	CLIP-seq
MIRT1343410	hsa-miR-548ai	CLIP-seq
MIRT1343411	hsa-miR-548an	CLIP-seq
MIRT1343412	hsa-miR-548t	CLIP-seq
MIRT1343413	hsa-miR-557	CLIP-seq
MIRT1343414	hsa-miR-590-3p	CLIP-seq
MIRT1343415	hsa-miR-591	CLIP-seq
MIRT1343416	hsa-miR-620	CLIP-seq
MIRT1343417	hsa-miR-628-5p	CLIP-seq
MIRT1343418	hsa-miR-93	CLIP-seq
MIRT1343419	hsa-miR-942	CLIP-seq
MIRT2101476	hsa-miR-1305	CLIP-seq
MIRT1343366	hsa-miR-148a	CLIP-seq
MIRT1343367	hsa-miR-148b	CLIP-seq
MIRT1343368	hsa-miR-152	CLIP-seq
MIRT1343369	hsa-miR-154	CLIP-seq
MIRT2101477	hsa-miR-182	CLIP-seq
MIRT1343378	hsa-miR-224	CLIP-seq
MIRT2101478	hsa-miR-2355-5p	CLIP-seq
MIRT2101479	hsa-miR-31	CLIP-seq
MIRT1343384	hsa-miR-3177-5p	CLIP-seq
MIRT2101480	hsa-miR-3182	CLIP-seq
MIRT2101481	hsa-miR-376a	CLIP-seq
MIRT2101482	hsa-miR-376b	CLIP-seq
MIRT2101483	hsa-miR-3920	CLIP-seq
MIRT2101484	hsa-miR-4274	CLIP-seq
MIRT2101485	hsa-miR-4762-3p	CLIP-seq
MIRT1343399	hsa-miR-4768-5p	CLIP-seq
MIRT2101486	hsa-miR-498	CLIP-seq
MIRT2101487	hsa-miR-567	CLIP-seq
MIRT1343414	hsa-miR-590-3p	CLIP-seq
MIRT2101488	hsa-miR-875-3p	CLIP-seq
MIRT1343364	hsa-miR-129-5p	CLIP-seq
MIRT2325875	hsa-miR-141	CLIP-seq
MIRT1343369	hsa-miR-154	CLIP-seq
MIRT1343371	hsa-miR-183	CLIP-seq
MIRT2325876	hsa-miR-200a	CLIP-seq
MIRT1343377	hsa-miR-2116	CLIP-seq
MIRT1343378	hsa-miR-224	CLIP-seq
MIRT2101480	hsa-miR-3182	CLIP-seq
MIRT2101483	hsa-miR-3920	CLIP-seq
MIRT2101484	hsa-miR-4274	CLIP-seq
MIRT1343392	hsa-miR-4642	CLIP-seq
MIRT1343394	hsa-miR-4653-3p	CLIP-seq
MIRT1343395	hsa-miR-4666-3p	CLIP-seq
MIRT1343398	hsa-miR-4761-5p	CLIP-seq
MIRT2101485	hsa-miR-4762-3p	CLIP-seq
MIRT1343399	hsa-miR-4768-5p	CLIP-seq
MIRT1343400	hsa-miR-488	CLIP-seq
MIRT1343401	hsa-miR-490-5p	CLIP-seq
MIRT1343402	hsa-miR-494	CLIP-seq
MIRT2325877	hsa-miR-548aa	CLIP-seq
MIRT1343409	hsa-miR-548ag	CLIP-seq
MIRT1343410	hsa-miR-548ai	CLIP-seq
MIRT1343414	hsa-miR-590-3p	CLIP-seq
MIRT1343417	hsa-miR-628-5p	CLIP-seq
MIRT2101488	hsa-miR-875-3p	CLIP-seq
MIRT1343419	hsa-miR-942	CLIP-seq
MIRT1343363	hsa-miR-128	CLIP-seq
MIRT2325875	hsa-miR-141	CLIP-seq
MIRT2325876	hsa-miR-200a	CLIP-seq
MIRT1343379	hsa-miR-27a	CLIP-seq
MIRT1343380	hsa-miR-27b	CLIP-seq
MIRT1343381	hsa-miR-3121-5p	CLIP-seq
MIRT2394319	hsa-miR-381	CLIP-seq
MIRT1343395	hsa-miR-4666-3p	CLIP-seq
MIRT1343402	hsa-miR-494	CLIP-seq
MIRT1343405	hsa-miR-512-3p	CLIP-seq
MIRT1343417	hsa-miR-628-5p	CLIP-seq
MIRT1343364	hsa-miR-129-5p	CLIP-seq
MIRT1343378	hsa-miR-224	CLIP-seq
MIRT2621612	hsa-miR-3121-3p	CLIP-seq
MIRT2621613	hsa-miR-4317	CLIP-seq
MIRT2621614	hsa-miR-4522	CLIP-seq
MIRT2621615	hsa-miR-4528	CLIP-seq
MIRT2621616	hsa-miR-4735-5p	CLIP-seq
MIRT2621617	hsa-miR-4753-3p	CLIP-seq
MIRT2325877	hsa-miR-548aa	CLIP-seq
MIRT1343414	hsa-miR-590-3p	CLIP-seq
MIRT2621618	hsa-miR-616	CLIP-seq
MIRT1343378	hsa-miR-224	CLIP-seq
MIRT2101480	hsa-miR-3182	CLIP-seq
MIRT2101483	hsa-miR-3920	CLIP-seq
MIRT2101484	hsa-miR-4274	CLIP-seq
MIRT2690590	hsa-miR-4282	CLIP-seq
MIRT2621613	hsa-miR-4317	CLIP-seq
MIRT2621614	hsa-miR-4522	CLIP-seq
MIRT2621615	hsa-miR-4528	CLIP-seq
MIRT2621616	hsa-miR-4735-5p	CLIP-seq
MIRT2101485	hsa-miR-4762-3p	CLIP-seq
MIRT2325877	hsa-miR-548aa	CLIP-seq
MIRT1343414	hsa-miR-590-3p	CLIP-seq
MIRT2621618	hsa-miR-616	CLIP-seq

Show/Hide all (36)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000138	Component	Golgi trans cisterna	IDA	14685263
GO:0000139	Component	Golgi membrane	IBA
GO:0000139	Component	Golgi membrane	IDA	14685263
GO:0000139	Component	Golgi membrane	IEA
GO:0000139	Component	Golgi membrane	TAS
GO:0002950	Function	Ceramide phosphoethanolamine synthase activity	IDA	25605874
GO:0002950	Function	Ceramide phosphoethanolamine synthase activity	IEA
GO:0005634	Component	Nucleus	TAS	14976195
GO:0005783	Component	Endoplasmic reticulum	TAS	14976195
GO:0005789	Component	Endoplasmic reticulum membrane	IBA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	TAS	14976195
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006665	Process	Sphingolipid metabolic process	IEA
GO:0006686	Process	Sphingomyelin biosynthetic process	IBA
GO:0006686	Process	Sphingomyelin biosynthetic process	IDA	14685263, 14976195, 17982138
GO:0006686	Process	Sphingomyelin biosynthetic process	IEA
GO:0006915	Process	Apoptotic process	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016780	Function	Phosphotransferase activity, for other substituted phosphate groups	IEA
GO:0030148	Process	Sphingolipid biosynthetic process	TAS
GO:0033188	Function	Sphingomyelin synthase activity	IBA
GO:0033188	Function	Sphingomyelin synthase activity	IDA	17982138
GO:0033188	Function	Sphingomyelin synthase activity	IEA
GO:0033188	Function	Sphingomyelin synthase activity	IMP	14976195
GO:0033188	Function	Sphingomyelin synthase activity	TAS
GO:0046513	Process	Ceramide biosynthetic process	IBA
GO:0046513	Process	Ceramide biosynthetic process	IDA	25605874
GO:0046513	Process	Ceramide biosynthetic process	IEA
GO:0047493	Function	Ceramide cholinephosphotransferase activity	IBA
GO:0047493	Function	Ceramide cholinephosphotransferase activity	IDA	14685263
GO:2001242	Process	Regulation of intrinsic apoptotic signaling pathway	TAS	14976195

MIM	HGNC	e!Ensembl
611573	29799	ENSG00000198964

Q86VZ5

Protein name

Phosphatidylcholine:ceramide cholinephosphotransferase 1 (EC 2.7.8.27) (Medulla oblongata-derived protein) (Protein Mob) (Sphingomyelin synthase 1) (Transmembrane protein 23)

Protein function

Major sphingomyelin synthase at the Golgi apparatus (PubMed:14685263, PubMed:17449912). Catalyzes the reversible transfer of phosphocholine moiety in sphingomyelin biosynthesis: in the forward reaction transfers phosphocholine head group of phos

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF14360	PAP2_C	276 → 349	PAP2 superfamily C-terminal	Domain

Tissue specificity

TISSUE SPECIFICITY: Brain, heart, kidney, liver, muscle and stomach. {ECO:0000269|PubMed:11841947, ECO:0000269|PubMed:14685263, ECO:0000269|PubMed:15315829}.

Sequence

MKEVVYWSPKKVADWLLENAMPEYCEPLEHFTGQDLINLTQEDFKKPPLCRVSSDNGQRL
LDMIETLKMEHHLEAHKNGHANGHLNIGVDIPTPDGSFSIKIKPNGMPNGYRKEMIKIPM
PELERSQYPMEWGKTFLAFLYALSCFVLTTVMISVVHERVPPKEVQPPLPDTFFDHFNRV
QWAFSICEINGMILVGLWLIQWLLLKYKSIISRRFFCIVGTLYLYRCITMYVTTLPVPGM
HFNCSPKLFGDWEAQLRRIMKLIAGGGLSITGSHNMCGDYLYSGHTVMLTLTYLFIKEYS
PRRLWWYHWICWLLSVVGIFCILLAHDHYTVDVVVAYYITTRLFWWYHTMANQQVLKEAS
QMNLLARVWWYRPFQYFEKNVQGIVPRSYHWPFPWPVVHLSRQVKYSRLVNDT

Sequence length

413

Interactions

View interactions

	KEGG		Reactome
	Glycerophospholipid metabolism Sphingolipid metabolism Metabolic pathways Sphingolipid signaling pathway		Sphingolipid de novo biosynthesis

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (9)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLEX NEURODEVELOPMENTAL DISORDER	—	GenCC	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESTROGEN-RECEPTOR NEGATIVE BREAST CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEVERE ACUTE RESPIRATORY SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (13)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma of Lung	Associate	34061466	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Inhibit	32170160	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Associate	34828282	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Associate	21418611	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Associate	37926998	★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Associate	37298446	★★★★★ ★☆☆☆☆ Found in Text Mining only
Giant Cell Tumor of Bone	Associate	34096319	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Valve Diseases	Associate	37298446	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	29533737	★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Associate	36011408	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	28586047	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Inhibit	32170160	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sezary Syndrome	Associate	27039262	★★★★★ ★☆☆☆☆ Found in Text Mining only

SGMS1 (sphingomyelin synthase 1)