KEGG   Homo sapiens (human): 212Help
Entry
212               CDS       T01001                                 

Gene name
ALAS2, ALAS-E, ALASE, ANH1, ASB, SIDBA1, XLDPP, XLEPP, XLSA
Definition
(RefSeq) 5'-aminolevulinate synthase 2
  KO
K00643  5-aminolevulinate synthase [EC:2.3.1.37]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00260  Glycine, serine and threonine metabolism
hsa00860  Porphyrin and chlorophyll metabolism
hsa01100  Metabolic pathways
Module
hsa_M00868  Heme biosynthesis, animals and fungi, glycine => heme
Network
N00601  Heme biosynthesis
N00602  FECH deficiency in heme biosynthesis
N00603  PPOX deficiency in heme biosynthesis
N00604  CPOX deficiency in heme biosynthesis
N00605  UROD deficiency in heme biosynthesis
N00606  UROS deficiency in heme biosynthesis
N00607  HMBS deficiency in heme biosynthesis
N00608  ALAD deficiency in heme biosynthesis
N00609  ALAS2 deficiency in heme biosynthesis
Disease
H01763  Porphyria
Drug target
Hemin: D10003
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09105 Amino acid metabolism
   00260 Glycine, serine and threonine metabolism
    212 (ALAS2)
  09108 Metabolism of cofactors and vitamins
   00860 Porphyrin and chlorophyll metabolism
    212 (ALAS2)
 09180 Brite Hierarchies
  09181 Protein families: metabolism
   01007 Amino acid related enzymes [BR:hsa01007]
    212 (ALAS2)
Enzymes [BR:hsa01000]
 2. Transferases
  2.3  Acyltransferases
   2.3.1  Transferring groups other than aminoacyl groups
    2.3.1.37  5-aminolevulinate synthase
     212 (ALAS2)
Amino acid related enzymes [BR:hsa01007]
 Aminotransferase (transaminase)
  Class II
   212 (ALAS2)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: Aminotran_1_2 Preseq_ALAS Aminotran_5 Cys_Met_Meta_PP DegT_DnrJ_EryC1
Motif
Other DBs
NCBI-GeneID: 212
NCBI-ProteinID: NP_000023
OMIM: 301300
HGNC: 397
Ensembl: ENSG00000158578
Vega: OTTHUMG00000021641
Pharos: P22557(Tbio)
UniProt: P22557
Structure
PDB: 

Position
Xp11.21
AA seq 587 aa AA seqDB search
MVTAAMLLQCCPVLARGPTSLLGKVVKTHQFLFGIGRCPILATQGPNCSQIHLKATKAGG
DSPSWAKGHCPFMLSELQDGKSKIVQKAAPEVQEDVKAFKTDLPSSLVSVSLRKPFSGPQ
EQEQISGKVTHLIQNNMPGNYVFSYDQFFRDKIMEKKQDHTYRVFKTVNRWADAYPFAQH
FSEASVASKDVSVWCSNDYLGMSRHPQVLQATQETLQRHGAGAGGTRNISGTSKFHVELE
QELAELHQKDSALLFSSCFVANDSTLFTLAKILPGCEIYSDAGNHASMIQGIRNSGAAKF
VFRHNDPDHLKKLLEKSNPKIPKIVAFETVHSMDGAICPLEELCDVSHQYGALTFVDEVH
AVGLYGSRGAGIGERDGIMHKIDIISGTLGKAFGCVGGYIASTRDLVDMVRSYAAGFIFT
TSLPPMVLSGALESVRLLKGEEGQALRRAHQRNVKHMRQLLMDRGLPVIPCPSHIIPIRV
GNAALNSKLCDLLLSKHGIYVQAINYPTVPRGEELLRLAPSPHHSPQMMEDFVEKLLLAW
TAVGLPLQDVSVAACNFCRRPVHFELMSEWERSYFGNMGPQYVTTYA
NT seq 1764 nt NT seq  +upstreamnt  +downstreamnt
atggtgactgcagccatgctgctacagtgctgcccagtgcttgcccggggccccacaagc
ctcctaggcaaggtggttaagactcaccagttcctgtttggtattggacgctgtcccatc
ctggctacccaaggaccaaactgttctcaaatccaccttaaggcaacaaaggctggagga
gattctccatcttgggcgaagggccactgtcccttcatgctgtcggaactccaggatggg
aagagcaagattgtgcagaaggcagccccagaagtccaggaagatgtgaaggctttcaag
acagatctgcctagctccctggtctcagtcagcctaaggaagccattttccggtccccag
gagcaggagcagatctctgggaaggtcacacacctgattcagaacaatatgcctggaaac
tatgtcttcagttatgaccagtttttcagggacaagatcatggagaagaaacaggatcac
acctaccgtgtgttcaagactgtgaaccgctgggctgatgcatatccctttgcccaacat
ttctctgaggcatctgtggcctcaaaggatgtgtccgtctggtgtagtaatgattacctg
ggcatgagccgacaccctcaggtcttgcaagccacacaggagaccctgcagcgtcatggt
gctggagctggtggcacccgcaacatctcaggcaccagtaagtttcatgtggagcttgag
caggagctggctgagctgcaccagaaggactcagccctgctcttctcctcctgctttgtt
gccaatgactctactctcttcaccttggccaagatcctgccagggtgcgagatttactca
gacgcaggcaaccatgcttccatgatccaaggtatccgtaacagtggagcagccaagttt
gtcttcaggcacaatgaccctgaccacctaaagaaacttctagagaagtctaaccctaag
atacccaaaattgtggcctttgagactgtccactccatggatggtgccatctgtcccctc
gaggagttgtgtgatgtgtcccaccagtatggggccctgaccttcgtggatgaggtccat
gctgtaggactgtatgggtcccggggcgctgggattggggagcgtgatggaattatgcat
aagattgacatcatctctggaactcttggcaaggcctttggctgtgtgggcggctacatt
gccagcacccgtgacttggtggacatggtgcgctcctatgctgcaggcttcatctttacc
acttctctgccccccatggtgctctctggagctctagaatctgtgcggctgctcaaggga
gaggagggccaagccctgaggcgagcccaccagcgcaatgtcaagcacatgcgccagcta
ctcatggacaggggccttcctgtcatcccctgccccagccacatcatccccatccgggtg
ggcaatgcagcactcaacagcaagctctgtgatctcctgctctccaagcatggcatctat
gtgcaggccatcaactacccaactgtcccccggggtgaagagctcctgcgcttggcaccc
tccccccaccacagccctcagatgatggaagattttgtggagaagctgctgctggcttgg
actgcggtggggctgcccctccaggatgtgtctgtggctgcctgcaatttctgtcgccgt
cctgtacactttgagctcatgagtgagtgggaacgttcctacttcgggaacatggggccc
cagtatgtcaccacctatgcctga

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