KEGG   Homo sapiens (human): 427Help
Entry
427               CDS       T01001                                 

Gene name
ASAH1, AC, ACDase, ASAH, PHP, PHP32, SMAPME
Definition
(RefSeq) N-acylsphingosine amidohydrolase 1
  KO
K12348  acid ceramidase [EC:3.5.1.23]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00600  Sphingolipid metabolism
hsa01100  Metabolic pathways
hsa04071  Sphingolipid signaling pathway
hsa04142  Lysosome
Module
hsa_M00099  Sphingosine biosynthesis
Network
nt06014  Sphingolipid degradation
  Element
N00649  Hydrolysis of sphingomyelin
N00651  ASAH1 deficiency in sphingolipid degradation
Disease
H00138  Farber lipogranulomatosis
H00423  Sphingolipidosis
H00424  Defects in the degradation of sphingomyelin
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09103 Lipid metabolism
   00600 Sphingolipid metabolism
    427 (ASAH1)
 09130 Environmental Information Processing
  09132 Signal transduction
   04071 Sphingolipid signaling pathway
    427 (ASAH1)
 09140 Cellular Processes
  09141 Transport and catabolism
   04142 Lysosome
    427 (ASAH1)
 09180 Brite Hierarchies
  09181 Protein families: metabolism
   01002 Peptidases and inhibitors [BR:hsa01002]
    427 (ASAH1)
  09183 Protein families: signaling and cellular processes
   04147 Exosome [BR:hsa04147]
    427 (ASAH1)
Enzymes [BR:hsa01000]
 3. Hydrolases
  3.5  Acting on carbon-nitrogen bonds, other than peptide bonds
   3.5.1  In linear amides
    3.5.1.23  ceramidase
     427 (ASAH1)
Peptidases and inhibitors [BR:hsa01002]
 Cysteine peptidases
  Family C89
   427 (ASAH1)
Exosome [BR:hsa04147]
 Exosomal proteins
  Exosomal proteins of other body fluids (saliva and urine)
   427 (ASAH1)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: CBAH NAAA-beta AAT HP_OMP DUF502
Motif
Other DBs
NCBI-GeneID: 427
NCBI-ProteinID: NP_808592
OMIM: 613468
HGNC: 735
Ensembl: ENSG00000104763
Vega: OTTHUMG00000096997
Pharos: Q13510(Tchem)
UniProt: Q13510 A8K0B6 Q53H01
Structure
PDB: 

Position
8p22
AA seq 395 aa AA seqDB search
MPGRSCVALVLLAAAVSCAVAQHAPPWTEDCRKSTYPPSGPTYRGAVPWYTINLDLPPYK
RWHELMLDKAPVLKVIVNSLKNMINTFVPSGKIMQVVDEKLPGLLGNFPGPFEEEMKGIA
AVTDIPLGEIISFNIFYELFTICTSIVAEDKKGHLIHGRNMDFGVFLGWNINNDTWVITE
QLKPLTVNLDFQRNNKTVFKASSFAGYVGMLTGFKPGLFSLTLNERFSINGGYLGILEWI
LGKKDVMWIGFLTRTVLENSTSYEEAKNLLTKTKILAPAYFILGGNQSGEGCVITRDRKE
SLDVYELDAKQGRWYVVQTNYDRWKHPFFLDDRRTPAKMCLNRTSQENISFETMYDVLST
KPVLNKLTVYTTLIDVTKGQFETYLRDCPDPCIGW
NT seq 1188 nt NT seq  +upstreamnt  +downstreamnt
atgccgggccggagttgcgtcgccttagtcctcctggctgccgccgtcagctgtgccgtc
gcgcagcacgcgccgccgtggacagaggactgcagaaaatcaacctatcctccttcagga
ccaacgtacagaggtgcagttccatggtacaccataaatcttgacttaccaccctacaaa
agatggcatgaattgatgcttgacaaggcaccagtgctaaaggttatagtgaattctctg
aagaatatgataaatacattcgtgccaagtggaaaaattatgcaggtggtggatgaaaaa
ttgcctggcctacttggcaactttcctggcccttttgaagaggaaatgaagggtattgcc
gctgttactgatatacctttaggagagattatttcattcaatattttttatgaattattt
accatttgtacttcaatagtagcagaagacaaaaaaggtcatctaatacatgggagaaac
atggattttggagtatttcttgggtggaacataaataatgatacctgggtcataactgag
caactaaaacctttaacagtgaatttggatttccaaagaaacaacaaaactgtcttcaag
gcttcaagctttgctggctatgtgggcatgttaacaggattcaaaccaggactgttcagt
cttacactgaatgaacgtttcagtataaatggtggttatctgggtattctagaatggatt
ctgggaaagaaagatgtcatgtggatagggttcctcactagaacagttctggaaaatagc
acaagttatgaagaagccaagaatttattgaccaagaccaagatattggccccagcctac
tttatcctgggaggcaaccagtctggggaaggttgtgtgattacacgagacagaaaggaa
tcattggatgtatatgaactcgatgctaagcagggtagatggtatgtggtacaaacaaat
tatgaccgttggaaacatcccttcttccttgatgatcgcagaacgcctgcaaagatgtgt
ctgaaccgcaccagccaagagaatatctcatttgaaaccatgtatgatgtcctgtcaaca
aaacctgtcctcaacaagctgaccgtatacacaaccttgatagatgttaccaaaggtcaa
ttcgaaacttacctgcgggactgccctgacccttgtataggttggtga

  All links  
Ontology (4)   
   KEGG BRITE (4)   
Pathway (5)   
   KEGG PATHWAY (4)   
   KEGG MODULE (1)   
Network (2)   
   KEGG NETWORK (2)   
Disease (6)   
   KEGG DISEASE (3)   
   OMIM (3)   
Chemical substance (8)   
   KEGG COMPOUND (8)   
Chemical reaction (4)   
   KEGG ENZYME (1)   
   KEGG REACTION (3)   
Genome (1)   
   KEGG GENOME (1)   
Gene (34)   
   KEGG ORTHOLOGY (1)   
   RefGene (22)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (4)   
   OC (1)   
   PHAROS (1)   
   VEGA (1)   
Protein sequence (9)   
   UniProt (3)   
   SWISS-PROT (1)   
   RefSeq(pep) (5)   
DNA sequence (43)   
   RefSeq(nuc) (5)   
   GenBank (19)   
   EMBL (19)   
Protein domain (5)   
   Pfam (5)   
All databases (121)   

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