KEGG   Homo sapiens (human): 10558
Entry
10558             CDS       T01001                                 
Symbol
SPTLC1, ALS27, HSAN1, HSN1, LBC1, LCB1, SPT1, SPTI
Name
(RefSeq) serine palmitoyltransferase long chain base subunit 1
  KO
K00654  serine palmitoyltransferase [EC:2.3.1.50]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00600  Sphingolipid metabolism
hsa01100  Metabolic pathways
hsa04071  Sphingolipid signaling pathway
Module
hsa_M00094  Ceramide biosynthesis
hsa_M00099  Sphingosine biosynthesis
Disease
H00058  Amyotrophic lateral sclerosis (ALS)
H00265  Hereditary sensory and autonomic neuropathy
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09103 Lipid metabolism
   00600 Sphingolipid metabolism
    10558 (SPTLC1)
 09130 Environmental Information Processing
  09132 Signal transduction
   04071 Sphingolipid signaling pathway
    10558 (SPTLC1)
 09180 Brite Hierarchies
  09181 Protein families: metabolism
   01007 Amino acid related enzymes [BR:hsa01007]
    10558 (SPTLC1)
Enzymes [BR:hsa01000]
 2. Transferases
  2.3  Acyltransferases
   2.3.1  Transferring groups other than aminoacyl groups
    2.3.1.50  serine C-palmitoyltransferase
     10558 (SPTLC1)
Amino acid related enzymes [BR:hsa01007]
 Aminotransferase (transaminase)
  Class II
   10558 (SPTLC1)
SSDB
Motif
Pfam: Aminotran_1_2 Cys_Met_Meta_PP
Other DBs
NCBI-GeneID: 10558
NCBI-ProteinID: NP_006406
OMIM: 605712
HGNC: 11277
Ensembl: ENSG00000090054
UniProt: O15269 Q6NUL7
Structure
Position
9:complement(92031147..92115413)
AA seq 473 aa
MATATEQWVLVEMVQALYEAPAYHLILEGILILWIIRLLFSKTYKLQERSDLTVKEKEEL
IEEWQPEPLVPPVPKDHPALNYNIVSGPPSHKTVVNGKECINFASFNFLGLLDNPRVKAA
ALASLKKYGVGTCGPRGFYGTFDVHLDLEDRLAKFMKTEEAIIYSYGFATIASAIPAYSK
RGDIVFVDRAACFAIQKGLQASRSDIKLFKHNDMADLERLLKEQEIEDQKNPRKARVTRR
FIVVEGLYMNTGTICPLPELVKLKYKYKARIFLEESLSFGVLGEHGRGVTEHYGINIDDI
DLISANMENALASIGGFCCGRSFVIDHQRLSGQGYCFSASLPPLLAAAAIEALNIMEENP
GIFAVLKEKCGQIHKALQGISGLKVVGESLSPAFHLQLEESTGSREQDVRLLQEIVDQCM
NRSIALTQARYLEKEEKCLPPPSIRVVVTVEQTEEELERAASTIKEVAQAVLL
NT seq 1422 nt   +upstreamnt  +downstreamnt
atggcgaccgccacggagcagtgggttctggtggagatggtacaggcgctttacgaggct
cctgcttaccatcttattttggaagggattctgatcctctggataatcagacttcttttc
tctaagacttacaaattacaagaacgatctgatcttacagtcaaggaaaaagaagaactg
attgaagagtggcaaccagaacctcttgttcctcctgtcccaaaagaccatcctgctctc
aactacaacatcgtttcaggccctccaagccacaaaactgtggtgaatggaaaagaatgt
ataaacttcgcctcatttaattttcttggattgttggataaccctagggttaaggcagca
gctttagcatctctaaagaagtatggcgtggggacttgtggacccagaggattttatggc
acatttgatgttcatttggatttggaagaccgcctggcaaaatttatgaagacagaagaa
gccattatatactcatatggatttgccaccatagccagtgctattcctgcttactctaaa
agaggggacattgtttttgtagatagagctgcctgctttgctattcagaaaggattacag
gcatcccgtagtgacattaagttatttaagcataatgacatggctgacctcgagcgacta
ctaaaagaacaagagatcgaagatcaaaagaatcctcgcaaggctcgtgtaactcggcgt
ttcattgtagtagaaggattgtatatgaatactggaactatttgtcctcttccagaattg
gttaagttaaaatacaaatacaaagcaagaatcttcctggaggaaagcctttcatttgga
gtcctaggagagcatggccgaggagtcactgaacactatggaatcaatattgatgatatt
gatcttatcagtgccaacatggagaatgcacttgcttctattggaggtttctgctgtggc
aggtcttttgtaattgaccatcagcgactttccggccagggatactgcttttcagcttcg
ttacctcccctgttagctgctgcagcaattgaggccctcaacatcatggaagagaatcca
ggtatttttgcagtgttgaaggaaaagtgcggacaaattcataaagctttacaaggcatt
tctggattaaaagtggtgggggagtccctttctccagcctttcacctacaactggaagag
agcactgggtctcgcgagcaagatgtcagactgcttcaggaaattgtagatcaatgcatg
aacagaagtattgcattaactcaggcgcgctacttggagaaagaagagaagtgtctccct
cctcccagcattcgggttgtggtcacggtggaacaaacagaggaagaactggagagagct
gcgtccaccatcaaggaggtagcccaggccgtcctgctctag

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Ontology (3)   
   KEGG BRITE (3)   
Pathway (5)   
   KEGG PATHWAY (3)   
   KEGG MODULE (2)   
Disease (5)   
   KEGG DISEASE (2)   
   OMIM (3)   
Chemical substance (5)   
   KEGG COMPOUND (5)   
Chemical reaction (2)   
   KEGG ENZYME (1)   
   KEGG REACTION (1)   
Genome (1)   
   KEGG GENOME (1)   
Gene (12)   
   KEGG ORTHOLOGY (1)   
   RefGene (2)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (4)   
   OC (1)   
Protein sequence (16)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (13)   
DNA sequence (34)   
   RefSeq(nuc) (14)   
   GenBank (10)   
   EMBL (10)   
3D Structure (17)   
   PDB (17)   
Protein domain (2)   
   Pfam (2)   
All databases (102)   

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