Entity Details

Primary name SPTC2_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionO15270
EntryNameSPTC2_HUMAN
FullNameSerine palmitoyltransferase 2
TaxID9606
Evidenceevidence at protein level
Length562
SequenceStatuscomplete
DateCreated2000-05-30
DateModified2021-06-02

Ontological Relatives

GenesSPTLC2

GO terms

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GOName
GO:0004758 serine C-palmitoyltransferase activity
GO:0005789 endoplasmic reticulum membrane
GO:0006686 sphingomyelin biosynthetic process
GO:0016021 integral component of membrane
GO:0017059 serine C-palmitoyltransferase complex
GO:0030148 sphingolipid biosynthetic process
GO:0030170 pyridoxal phosphate binding
GO:0046511 sphinganine biosynthetic process
GO:0046512 sphingosine biosynthetic process
GO:0046513 ceramide biosynthetic process
GO:0060612 adipose tissue development
GO:1904504 positive regulation of lipophagy

Subcellular Location

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Subcellular Location
Endoplasmic reticulum membrane

Domains

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DomainNameCategoryType
IPR001917 Aminotransferase, class-II, pyridoxal-phosphate binding siteSiteBinding site
IPR004839 Aminotransferase, class I/classIIDomainDomain
IPR015421 Pyridoxal phosphate-dependent transferase, major domainFamilyHomologous superfamily
IPR015422 Pyridoxal phosphate-dependent transferase, small domainFamilyHomologous superfamily
IPR015424 Pyridoxal phosphate-dependent transferaseFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
613640 OMIMNeuropathy, hereditary sensory and autonomic, 1C (HSAN1C)A form of hereditary sensory and autonomic neuropathy, a genetically and clinically heterogeneous group of disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and by prominent sensory abnormalities with a variable degree of motor and autonomic dysfunction. The neurological phenotype is often complicated by severe infections, osteomyelitis, and amputations. HSAN1C symptoms include loss of touch and vibration in the feet, dysesthesia and severe panmodal sensory loss in the upper and lower limbs, distal lower limb sensory loss with ulceration and osteomyelitis, and distal muscle weakness. The disease is caused by variants affecting the gene represented in this entry. SPTLC2 disease mutations cause a shift in the substrate specificity of SPT resulting in the alternative use of L-alanine and L-glycine over its canonical substrate L-serine. This leads to the production of 1-deoxysphingolipids that cannot be correctly metabolized (PubMed:23658386).

Drugs

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DrugNameSourceType
DB00114 Pyridoxal phosphateDrugbanksmall molecule
DB00133 SerineDrugbanksmall molecule