Gene/Proteome Database (LMPD)
Proteins
| phosphatidylcholine:ceramide cholinephosphotransferase 1 | |
|---|---|
| Refseq ID | NP_001161997 |
| Protein GI | 270483848 |
| UniProt ID | Q8VCQ6 |
| mRNA ID | NM_001168525 |
| Length | 419 |
| RefSeq Status | VALIDATED |
| MLSARTMKEVVYWSPKKVADWLLENAMPEYCEPLEHFTGQDLINLTQEDFKKPPLYRVSSDNGQRLLDMIETLKMEHHMEAHKNGHANGHLSIGVDIPNPDGSFSIKTKPNGMPNGFRKEMIKIPMPEPERSQYPMEWGKTFLAFLYALSCFVLTTVMISVVHERVPPKEVQPPLPDTFFDHFNRVQWAFSICEINGMILVGLWLFQWLLLKYKSIISRRFFCIVGTLYLYRCITMYVTTLPVPGMHFNCSPKLFGDWEAQVRRIMKLIAGGGLSITGSHNMCGDYLYSGHTVMLTLTYLFIKEYSPRRLWWYHWICWLLSVVGIFCILLAHDHYTVDVVVAYYITTRLFWWYHTMANQQVLKEASQMNLLARVWWYRPFQYFEKNVQGIVPRSYHWPFPWPVVHLSRQVKYSRLVNDT | |
| phosphatidylcholine:ceramide cholinephosphotransferase 1 | |
|---|---|
| Refseq ID | NP_001161998 |
| Protein GI | 270483850 |
| UniProt ID | Q8VCQ6 |
| mRNA ID | NM_001168526 |
| Length | 419 |
| RefSeq Status | VALIDATED |
| Protein sequence is identical to GI:270483848 (mRNA isoform) | |
Gene Information
Gene Ontology (GO Annotations)
| GO ID | Source | Type | Description |
|---|---|---|---|
| GO:0000138 | ISA:MGI | C | Golgi trans cisterna |
| GO:0005783 | TAS:HGNC | C | endoplasmic reticulum |
| GO:0030173 | ISS:UniProtKB | C | integral component of Golgi membrane |
| GO:0005634 | TAS:HGNC | C | nucleus |
| GO:0005886 | TAS:HGNC | C | plasma membrane |
| GO:0047493 | ISS:UniProtKB | F | ceramide cholinephosphotransferase activity |
| GO:0016301 | IEA:UniProtKB-KW | F | kinase activity |
| GO:0033188 | IMP:HGNC | F | sphingomyelin synthase activity |
| GO:0006915 | IEA:UniProtKB-KW | P | apoptotic process |
| GO:0016049 | IDA:HGNC | P | cell growth |
| GO:0071222 | IEA:Ensembl | P | cellular response to lipopolysaccharide |
| GO:0071356 | IEA:Ensembl | P | cellular response to tumor necrosis factor |
| GO:0006954 | IEA:Ensembl | P | inflammatory response |
| GO:2001237 | IDA:MGI | P | negative regulation of extrinsic apoptotic signaling pathway |
| GO:0010628 | IEA:Ensembl | P | positive regulation of gene expression |
| GO:0006686 | ISS:UniProtKB | P | sphingomyelin biosynthetic process |
Domain Information
UniProt Annotations
Entry Information
Comments
| Comment Type | Description |
|---|---|
| Alternative Products | Event=Alternative splicing; Named isoforms=3; Name=1; Synonyms=SMS1-alpha; IsoId=Q8VCQ6-1; Sequence=Displayed; Name=2; Synonyms=SMS1-beta; IsoId=Q8VCQ6-2; Sequence=VSP_050673; Name=3; Synonyms=SMS1-gamma; IsoId=Q8VCQ6-3; Sequence=VSP_027225, VSP_027226; |
| Catalytic Activity | A ceramide + a phosphatidylcholine = a sphingomyelin + a 1,2-diacyl-sn-glycerol. |
| Disruption Phenotype | Null mice have hearing impairments with stria vascularis (SV) in these mice exhibiting atrophy and disorganized marginal cells resulting in significantly smaller endocochlear potentials (EPs). These decreased EPs, together with abnormal KCNQ1 expression patterns, increase with age. There is a decrease in plasma, liver, and macrophage sphingomyelin (59%, 45%, and 54%, respectively) and a dramatic increase in glycosphingolipids. No change in ceramide, total cholesterol, phospholipids nor triglycerides levels. Diminished macrophage MAP kinase and NFKB1 activation is observed. Atherosclerosis in SMS1(-/-)/LDLR(-/-) mice is significantly decreased. |
| Function | Sphingomyelin synthases synthesize the sphingolipid, sphingomyelin, through transfer of the phosphatidyl head group, phosphatidylcholine, on to the primary hydroxyl of ceramide. The reaction is bidirectional depending on the respective levels of the sphingolipid and ceramide. Golgi apparatus SMS1 directly and specifically recognizes the choline head group on the substrate, requiring two fatty chains on the choline-P donor molecule in order to be recognized efficiently as a substrate. Major form in macrophages. Required for cell growth in certain cell types (By similarity). Suppresses BAX-mediated apoptosis and also prevents cell death in response to stimuli such as hydrogen peroxide, osmotic stress, elevated temperature and exogenously supplied sphingolipids. May protect against cell death by reversing the stress-inducible increase in levels of proapoptotic ceramide. {ECO:0000250, ECO:0000269|PubMed:16879426, ECO:0000269|PubMed:22580896}. |
| Induction | Isoform 1 and isoform 2 are induced by TNF-alpha. |
| Similarity | Belongs to the sphingomyelin synthase family. |
| Similarity | Contains 1 SAM (sterile alpha motif) domain. |
| Subcellular Location | Golgi apparatus membrane ; Multi-pass membrane protein . |
| Tissue Specificity | Isoform 1 is widely expressed, isoform 2 shows a more narrow distribution and isoform 3 is detected only in testis and heart. |
Identical and Related Proteins
Unique RefSeq proteins for LMP001377 (as displayed in Record Overview)
| Protein GI | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| 270483848 | RefSeq | NP_001161997 | 419 | phosphatidylcholine:ceramide cholinephosphotransferase 1 |
Identical Sequences to LMP001377 proteins
| Reference | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| GI:270483848 | GenBank | EDL41718.1 | 419 | transmembrane protein 23, isoform CRA_a [Mus musculus] |
| GI:270483848 | RefSeq | NP_001161998.1 | 419 | phosphatidylcholine:ceramide cholinephosphotransferase 1 [Mus musculus] |
| GI:270483848 | RefSeq | XP_006526880.1 | 419 | PREDICTED: phosphatidylcholine:ceramide cholinephosphotransferase 1 isoform X1 [Mus musculus] |
| GI:270483848 | RefSeq | XP_006526881.1 | 419 | PREDICTED: phosphatidylcholine:ceramide cholinephosphotransferase 1 isoform X2 [Mus musculus] |
| GI:270483848 | RefSeq | XP_006526882.1 | 419 | PREDICTED: phosphatidylcholine:ceramide cholinephosphotransferase 1 isoform X3 [Mus musculus] |
| GI:270483848 | RefSeq | XP_006526883.1 | 419 | PREDICTED: phosphatidylcholine:ceramide cholinephosphotransferase 1 isoform X4 [Mus musculus] |
Related Sequences to LMP001377 proteins
| Reference | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| GI:270483848 | DBBJ | BAC37590.1 | 419 | unnamed protein product [Mus musculus] |
| GI:270483848 | DBBJ | BAE27428.1 | 419 | unnamed protein product [Mus musculus] |
| GI:270483848 | GenBank | AAH81693.1 | 419 | Sphingomyelin synthase 1 [Rattus norvegicus] |
| GI:270483848 | RefSeq | NP_852051.2 | 419 | phosphatidylcholine:ceramide cholinephosphotransferase 1 [Rattus norvegicus] |
| GI:270483848 | RefSeq | XP_008574480.1 | 419 | PREDICTED: phosphatidylcholine:ceramide cholinephosphotransferase 1 [Galeopterus variegatus] |
| GI:270483848 | RefSeq | XP_008574481.1 | 419 | PREDICTED: phosphatidylcholine:ceramide cholinephosphotransferase 1 [Galeopterus variegatus] |