KEGG   Homo sapiens (human): 211
Entry
211               CDS       T01001                                 
Symbol
ALAS1, ALAS, ALAS-H, ALAS3, ALASH, MIG4
Name
(RefSeq) 5'-aminolevulinate synthase 1
  KO
K00643  5-aminolevulinate synthase [EC:2.3.1.37]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00260  Glycine, serine and threonine metabolism
hsa00860  Porphyrin metabolism
hsa01100  Metabolic pathways
hsa01240  Biosynthesis of cofactors
Module
hsa_M00868  Heme biosynthesis, animals and fungi, glycine => heme
Network
nt06011  Heme biosynthesis
  Element
N00601  Heme biosynthesis
Drug target
Givosiran (DG03084): D11702 D11708<JP/US>
Hemin: D10003<JP/US>
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09105 Amino acid metabolism
   00260 Glycine, serine and threonine metabolism
    211 (ALAS1)
  09108 Metabolism of cofactors and vitamins
   00860 Porphyrin metabolism
    211 (ALAS1)
 09180 Brite Hierarchies
  09181 Protein families: metabolism
   01007 Amino acid related enzymes [BR:hsa01007]
    211 (ALAS1)
Enzymes [BR:hsa01000]
 2. Transferases
  2.3  Acyltransferases
   2.3.1  Transferring groups other than aminoacyl groups
    2.3.1.37  5-aminolevulinate synthase
     211 (ALAS1)
Amino acid related enzymes [BR:hsa01007]
 Aminotransferase (transaminase)
  Class II
   211 (ALAS1)
SSDB
Motif
Pfam: Aminotran_1_2 Preseq_ALAS Cys_Met_Meta_PP Aminotran_5 Beta_elim_lyase
Other DBs
NCBI-GeneID: 211
NCBI-ProteinID: NP_000679
OMIM: 125290
HGNC: 396
Ensembl: ENSG00000023330
Pharos: P13196(Tbio)
UniProt: P13196 Q5JAM2
Position
3:52198083..52214327
AA seq 640 aa
MESVVRRCPFLSRVPQAFLQKAGKSLLFYAQNCPKMMEVGAKPAPRALSTAAVHYQQIKE
TPPASEKDKTAKAKVQQTPDGSQQSPDGTQLPSGHPLPATSQGTASKCPFLAAQMNQRGS
SVFCKASLELQEDVQEMNAVRKEVAETSAGPSVVSVKTDGGDPSGLLKNFQDIMQKQRPE
RVSHLLQDNLPKSVSTFQYDRFFEKKIDEKKNDHTYRVFKTVNRRAHIFPMADDYSDSLI
TKKQVSVWCSNDYLGMSRHPRVCGAVMDTLKQHGAGAGGTRNISGTSKFHVDLERELADL
HGKDAALLFSSCFVANDSTLFTLAKMMPGCEIYSDSGNHASMIQGIRNSRVPKYIFRHND
VSHLRELLQRSDPSVPKIVAFETVHSMDGAVCPLEELCDVAHEFGAITFVDEVHAVGLYG
ARGGGIGDRDGVMPKMDIISGTLGKAFGCVGGYIASTSSLIDTVRSYAAGFIFTTSLPPM
LLAGALESVRILKSAEGRVLRRQHQRNVKLMRQMLMDAGLPVVHCPSHIIPVRVADAAKN
TEVCDELMSRHNIYVQAINYPTVPRGEELLRIAPTPHHTPQMMNYFLENLLVTWKQVGLE
LKPHSSAECNFCRRPLHFEVMSEREKSYFSGLSKLVSAQA
NT seq 1923 nt   +upstreamnt  +downstreamnt
atggagagtgttgttcgccgctgcccattcttatcccgagtcccccaggcctttctgcag
aaagcaggcaaatctctgttgttctatgcccaaaactgccccaagatgatggaagttggg
gccaagccagcccctcgggcattgtccactgcagcagtacactaccaacagatcaaagaa
acccctccggccagtgagaaagacaaaactgctaaggccaaggtccaacagactcctgat
ggatcccagcagagtccagatggcacacagcttccgtctggacaccccttgcctgccaca
agccagggcactgcaagcaaatgccctttcctggcagcacagatgaatcagagaggcagc
agtgtcttctgcaaagccagtcttgagcttcaggaggatgtgcaggaaatgaatgccgtg
aggaaagaggttgctgaaacctcagcaggccccagtgtggttagtgtgaaaaccgatgga
ggggatcccagtggactgctgaagaacttccaggacatcatgcaaaagcaaagaccagaa
agagtgtctcatcttcttcaagataacttgccaaaatctgtttccacttttcagtatgat
cgtttctttgagaaaaaaattgatgagaaaaagaatgaccacacctatcgagtttttaaa
actgtgaaccggcgagcacacatcttccccatggcagatgactattcagactccctcatc
accaaaaagcaagtgtcagtctggtgcagtaatgactacctaggaatgagtcgccaccca
cgggtgtgtggggcagttatggacactttgaaacaacatggtgctggggcaggtggtact
agaaatatttctggaactagtaaattccatgtggacttagagcgggagctggcagacctc
catgggaaagatgccgcactcttgttttcctcgtgctttgtggccaatgactcaaccctc
ttcaccctggctaagatgatgccaggctgtgagatttactctgattctgggaaccatgcc
tccatgatccaagggattcgaaacagccgagtgccaaagtacatcttccgccacaatgat
gtcagccacctcagagaactgctgcaaagatctgacccctcagtccccaagattgtggca
tttgaaactgtccattcaatggatggggcggtgtgcccactggaagagctgtgtgatgtg
gcccatgagtttggagcaatcaccttcgtggatgaggtccacgcagtggggctttatggg
gctcgaggcggagggattggggatcgggatggagtcatgccaaaaatggacatcatttct
ggaacacttggcaaagcctttggttgtgttggagggtacatcgccagcacgagttctctg
attgacaccgtacggtcctatgctgctggcttcatcttcaccacctctctgccacccatg
ctgctggctggagccctggagtctgtgcggatcctgaagagcgctgagggacgggtgctt
cgccgccagcaccagcgcaacgtcaaactcatgagacagatgctaatggatgccggcctc
cctgttgtccactgccccagccacatcatccctgtgcgggttgcagatgctgctaaaaac
acagaagtctgtgatgaactaatgagcagacataacatctacgtgcaagcaatcaattac
cctacggtgccccggggagaagagctcctacggattgcccccacccctcaccacacaccc
cagatgatgaactacttccttgagaatctgctagtcacatggaagcaagtggggctggaa
ctgaagcctcattcctcagctgagtgcaacttctgcaggaggccactgcattttgaagtg
atgagtgaaagagagaagtcctatttctcaggcttgagcaagttggtatctgctcaggcc
tga

KEGG   Homo sapiens (human): 212
Entry
212               CDS       T01001                                 
Symbol
ALAS2, ALAS-E, ALASE, ANH1, ASB, SIDBA1, XLDPP, XLEPP, XLSA
Name
(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 metabolism
hsa01100  Metabolic pathways
hsa01240  Biosynthesis of cofactors
Module
hsa_M00868  Heme biosynthesis, animals and fungi, glycine => heme
Network
nt06011  Heme biosynthesis
  Element
N00601  Heme biosynthesis
Disease
H00201  Erythropoietic porphyria
H00982  Sideroblastic anemia
H01763  Porphyria
Drug target
Hemin: D10003<JP/US>
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 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)
SSDB
Motif
Pfam: Aminotran_1_2 Preseq_ALAS Aminotran_5 Cys_Met_Meta_PP DegT_DnrJ_EryC1
Other DBs
NCBI-GeneID: 212
NCBI-ProteinID: NP_000023
OMIM: 301300
HGNC: 397
Ensembl: ENSG00000158578
Pharos: P22557(Tbio)
UniProt: P22557
Structure
Position
X:complement(55009055..55030977)
AA seq 587 aa
MVTAAMLLQCCPVLARGPTSLLGKVVKTHQFLFGIGRCPILATQGPNCSQIHLKATKAGG
DSPSWAKGHCPFMLSELQDGKSKIVQKAAPEVQEDVKAFKTDLPSSLVSVSLRKPFSGPQ
EQEQISGKVTHLIQNNMPGNYVFSYDQFFRDKIMEKKQDHTYRVFKTVNRWADAYPFAQH
FSEASVASKDVSVWCSNDYLGMSRHPQVLQATQETLQRHGAGAGGTRNISGTSKFHVELE
QELAELHQKDSALLFSSCFVANDSTLFTLAKILPGCEIYSDAGNHASMIQGIRNSGAAKF
VFRHNDPDHLKKLLEKSNPKIPKIVAFETVHSMDGAICPLEELCDVSHQYGALTFVDEVH
AVGLYGSRGAGIGERDGIMHKIDIISGTLGKAFGCVGGYIASTRDLVDMVRSYAAGFIFT
TSLPPMVLSGALESVRLLKGEEGQALRRAHQRNVKHMRQLLMDRGLPVIPCPSHIIPIRV
GNAALNSKLCDLLLSKHGIYVQAINYPTVPRGEELLRLAPSPHHSPQMMEDFVEKLLLAW
TAVGLPLQDVSVAACNFCRRPVHFELMSEWERSYFGNMGPQYVTTYA
NT seq 1764 nt   +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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