KEGG   Homo sapiens (human): 79152
Entry
79152             CDS       T01001                                 
Symbol
FA2H, FAAH, FAH1, FAXDC1, SCS7, SPG35
Name
(RefSeq) fatty acid 2-hydroxylase
  KO
K19703  4-hydroxysphinganine ceramide fatty acyl 2-hydroxylase [EC:1.14.18.6]
Organism
hsa  Homo sapiens (human)
Disease
H00266  Hereditary spastic paraplegia
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09190 Not Included in Pathway or Brite
  09191 Unclassified: metabolism
   99980 Enzymes with EC numbers
    79152 (FA2H)
Enzymes [BR:hsa01000]
 1. Oxidoreductases
  1.14  Acting on paired donors, with incorporation or reduction of molecular oxygen
   1.14.18  With another compound as one donor, and incorporation of one atom of oxygen into the other donor
    1.14.18.6  4-hydroxysphinganine ceramide fatty acyl 2-hydroxylase
     79152 (FA2H)
SSDB
Motif
Pfam: FA_hydroxylase Cyt-b5 COX14 Anth_synt_I_N
Other DBs
NCBI-GeneID: 79152
NCBI-ProteinID: NP_077282
OMIM: 611026
HGNC: 21197
Ensembl: ENSG00000103089
UniProt: Q7L5A8
Position
16:complement(74712969..74774820)
AA seq 372 aa
MAPAPPPAASFSPSEVQRRLAAGACWVRRGARLYDLSSFVRHHPGGEQLLRARAGQDISA
DLDGPPHRHSANARRWLEQYYVGELRGEQQGSMENEPVALEETQKTDPAMEPRFKVVDWD
KDLVDWRKPLLWQVGHLGEKYDEWVHQPVTRPIRLFHSDLIEGLSKTVWYSVPIIWVPLV
LYLSWSYYRTFAQGNVRLFTSFTTEYTVAVPKSMFPGLFMLGTFLWSLIEYLIHRFLFHM
KPPSDSYYLIMLHFVMHGQHHKAPFDGSRLVFPPVPASLVIGVFYLCMQLILPEAVGGTV
FAGGLLGYVLYDMTHYYLHFGSPHKGSYLYSLKAHHVKHHFAHQKSGFGISTKLWDYCFH
TLTPEKPHLKTQ
NT seq 1119 nt   +upstreamnt  +downstreamnt
atggcccccgctccgccccccgccgcctccttctcgccctccgaggtccagcggcgcctg
gcggccggcgcgtgctgggtccgccgcggggcccgcctctacgacctctccagcttcgtg
cggcaccacccggggggcgagcagctgctgcgggccagggcgggccaggacatcagcgcc
gacctggacgggccgccgcacaggcactcggccaacgcgcgccgctggctggagcagtac
tacgtgggagagctccgcggggagcagcagggctccatggagaacgagcctgtagccctt
gaggaaactcagaagacagatcctgctatggaaccacggttcaaagtggtggattgggac
aaggacctggtggactggcgaaagcctctcctgtggcaggtgggccacttgggagagaag
tacgatgagtgggttcaccagccggtgaccaggcccatccgcctcttccactcagacctc
attgagggcctctctaagactgtctggtacagtgtccccatcatctgggtgcccctggtg
ctgtatctcagctggtcctactaccgaacctttgcccagggcaacgtccgactcttcacg
tcatttacaacagagtacacggtggcagtgcccaagtccatgttccccgggctcttcatg
ctggggacattcctctggagcctcatcgagtacctcatccaccgcttcctgttccacatg
aagccccccagcgacagctattacctcatcatgctgcacttcgtcatgcacggccagcac
cacaaggcacccttcgacggctcccgcctggtcttcccccctgtgccagcctccctggtg
atcggcgtcttctacttgtgcatgcagctcatcctgcccgaggcagtagggggcactgtg
tttgcggggggcctcctgggctacgtcctctatgacatgacccattactacctgcacttt
ggctcgccgcacaagggctcctacctgtacagcctgaaggcccaccacgtcaagcaccac
tttgcacatcagaagtcaggatttggtatcagcactaaattgtgggattactgtttccac
accctcactccagagaaaccccacctgaagacgcagtga

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Ontology (2)   
   KEGG BRITE (2)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Chemical reaction (1)   
   KEGG ENZYME (1)   
Genome (1)   
   KEGG GENOME (1)   
Gene (13)   
   KEGG ORTHOLOGY (1)   
   RefGene (3)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (4)   
   OC (1)   
Protein sequence (7)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (5)   
DNA sequence (25)   
   RefSeq(nuc) (5)   
   GenBank (10)   
   EMBL (10)   
Protein domain (4)   
   Pfam (4)   
All databases (56)   

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