Entity Details

Primary name SPTC1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionO15269
EntryNameSPTC1_HUMAN
FullNameSerine palmitoyltransferase 1
TaxID9606
Evidenceevidence at protein level
Length473
SequenceStatuscomplete
DateCreated2000-05-30
DateModified2021-06-02

Ontological Relatives

GenesSPTLC1

GO terms

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GOName
GO:0004758 serine C-palmitoyltransferase activity
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0006665 sphingolipid metabolic process
GO:0016021 integral component of membrane
GO:0017059 serine C-palmitoyltransferase complex
GO:0030148 sphingolipid biosynthetic process
GO:0030170 pyridoxal phosphate binding
GO:0035339 SPOTS complex
GO:0046512 sphingosine biosynthetic process
GO:0046513 ceramide biosynthetic process
GO:1904504 positive regulation of lipophagy
GO:1904649 regulation of fat cell apoptotic process

Subcellular Location

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Subcellular Location
Endoplasmic reticulum membrane

Domains

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DomainNameCategoryType
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
162400 OMIMNeuropathy, hereditary sensory and autonomic, 1A (HSAN1A)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. HSAN1A is an autosomal dominant axonal form with onset in the second or third decades. Initial symptoms are loss of pain, touch, heat, and cold sensation over the feet, followed by distal muscle wasting and weakness. Loss of pain sensation leads to chronic skin ulcers and distal amputations. The disease is caused by variants affecting the gene represented in this entry.

Drugs

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DrugNameSourceType
DB00114 Pyridoxal phosphateDrugbanksmall molecule
DB00133 SerineDrugbanksmall molecule