ENSG00000090054


Homo sapiens

Features
Gene ID: ENSG00000090054
  
Biological name :SPTLC1
  
Synonyms : O15269 / serine palmitoyltransferase long chain base subunit 1 / SPTLC1
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 9
Strand: -1
Band: q22.31
Gene start: 92000087
Gene end: 92115384
  
Corresponding Affymetrix probe sets: 1554053_at (Human Genome U133 Plus 2.0 Array)   202277_at (Human Genome U133 Plus 2.0 Array)   202278_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000495764
Ensembl peptide - ENSP00000495388
Ensembl peptide - ENSP00000496627
Ensembl peptide - ENSP00000262554
Ensembl peptide - ENSP00000337635
Ensembl peptide - ENSP00000493933
Ensembl peptide - ENSP00000494770
NCBI entrez gene - 10558     See in Manteia.
OMIM - 605712
RefSeq - XM_017014202
RefSeq - NM_001281303
RefSeq - NM_006415
RefSeq - NM_178324
RefSeq - XM_011518138
RefSeq - XM_011518139
RefSeq - XM_017014200
RefSeq - XM_017014201
RefSeq Peptide - NP_001268232
RefSeq Peptide - NP_006406
RefSeq Peptide - NP_847894
swissprot - A0A024R277
swissprot - O15269
Ensembl - ENSG00000090054
  
Related genetic diseases (OMIM): 162400 - Neuropathy, hereditary sensory and autonomic, type IA, 162400
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 sptlc1ENSDARG00000042995Danio rerio
 SPTLC1ENSGALG00000013493Gallus gallus
 O35704ENSMUSG00000021468Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR004839  Aminotransferase, class I/classII
 IPR015421  Pyridoxal phosphate-dependent transferase, major domain
 IPR015422  Pyridoxal phosphate-dependent transferase domain 1
 IPR015424  Pyridoxal phosphate-dependent transferase


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006629 lipid metabolic process IEA
 biological_processGO:0006665 sphingolipid metabolic process TAS
 biological_processGO:0006686 sphingomyelin biosynthetic process IEA
 biological_processGO:0009058 biosynthetic process IEA
 biological_processGO:0030148 sphingolipid biosynthetic process IDA
 biological_processGO:0046511 sphinganine biosynthetic process IEA
 biological_processGO:0046512 sphingosine biosynthetic process IEA
 biological_processGO:0046513 ceramide biosynthetic process IDA
 biological_processGO:1904504 positive regulation of lipophagy IDA
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005789 endoplasmic reticulum membrane TAS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0017059 serine C-palmitoyltransferase complex IDA
 cellular_componentGO:0035339 SPOTS complex IDA
 molecular_functionGO:0003824 catalytic activity IEA
 molecular_functionGO:0004758 serine C-palmitoyltransferase activity TAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0016746 transferase activity, transferring acyl groups IEA
 molecular_functionGO:0030170 pyridoxal phosphate binding IEA


Pathways (from Reactome)
Pathway description
Sphingolipid de novo biosynthesis


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000407 Hearing loss, sensorineural "Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII)." [HPO:curators]
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 HP:0000951 Abnormality of the skin "An abnormality of the `skin` (FMA:7163)." [HPO:probinson]
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 HP:0001265 Hyporeflexia 
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 HP:0001284 Areflexia 
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 HP:0001761 Pes cavus 
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 HP:0001868 Autoamputation (feet) 
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 HP:0001886 Osteomyelitis or necrosis, distal, due to sensory neuropathy (feet) 
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 HP:0002460 Distal muscle weakness "Reduced strength of the distal musculature." [HPO:curators]
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 HP:0002936 Distal sensory impairment 
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 HP:0003202 Amyotrophy "The presence of muscular atrophy (which is also known as amyotrophy)." [HPO:curators]
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 HP:0003387 Loss of large myelinated fibers 
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 HP:0003448 Decreased sensory nerve conduction velocities (NCV) 
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 HP:0006984 Distal sensory loss of all modalities 
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 HP:0007267 Emg shows chronic axonal neuropathy 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000100596 O15270 / SPTLC2 / serine palmitoyltransferase long chain base subunit 2  / complex
 ENSG00000165389 Q969W0 / SPTSSA / serine palmitoyltransferase small subunit A  / complex
 ENSG00000196542 Q8NFR3 / SPTSSB / serine palmitoyltransferase small subunit B  / complex
 ENSG00000172296 Q9NUV7 / SPTLC3 / serine palmitoyltransferase long chain base subunit 3  / complex






 

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