Gene Gene information from NCBI Gene database.
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]
miRNA miRNA information provided by mirtarbase database.
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
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611573 29799 ENSG00000198964
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
PRRLWWYHWICWLLSVVGIFCILLAHDHYTVDVVVAYYITTRLFWWYHT
MANQQVLKEAS
QMNLLARVWWYRPFQYFEKNVQGIVPRSYHWPFPWPVVHLSRQVKYSRLVNDT
Sequence length 413
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Glycerophospholipid metabolism
Sphingolipid metabolism
Metabolic pathways
Sphingolipid signaling pathway
  Sphingolipid de novo biosynthesis
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
8
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)
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.
Phenotype Name Clinical Significance Source Evidence Score
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
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Arteriosclerosis Arteriosclerosis BEFREE 31262710
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 31262710
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune Diseases BEFREE 31262710
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 32170160 Inhibit
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 34828282 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 21418611 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 17311693
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 9129152
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 37926998 Associate
★☆☆☆☆
Found in Text Mining only
Coronary Artery Disease Coronary artery disease Pubtator 37298446 Associate
★☆☆☆☆
Found in Text Mining only