KEGG   Homo sapiens (human): 211Help
Entry
211               CDS       T01001                                 

Gene name
ALAS1, ALAS, ALAS-H, ALAS3, ALASH, MIG4
Definition
(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 and chlorophyll metabolism
hsa01100  Metabolic pathways
Module
hsa_M00868  Heme biosynthesis, animals and fungi, glycine => heme
Network
nt06011  Heme biosynthesis
  Element
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
Drug target
Hemin: D10003
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 and chlorophyll 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)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: Aminotran_1_2 Preseq_ALAS Cys_Met_Meta_PP Aminotran_5 Beta_elim_lyase
Motif
Other DBs
NCBI-GeneID: 211
NCBI-ProteinID: NP_000679
OMIM: 125290
HGNC: 396
Ensembl: ENSG00000023330
Vega: OTTHUMG00000158108
Pharos: P13196(Tbio)
UniProt: P13196 Q5JAM2
Position
3p21.2
AA seq 640 aa AA seqDB search
MESVVRRCPFLSRVPQAFLQKAGKSLLFYAQNCPKMMEVGAKPAPRALSTAAVHYQQIKE
TPPASEKDKTAKAKVQQTPDGSQQSPDGTQLPSGHPLPATSQGTASKCPFLAAQMNQRGS
SVFCKASLELQEDVQEMNAVRKEVAETSAGPSVVSVKTDGGDPSGLLKNFQDIMQKQRPE
RVSHLLQDNLPKSVSTFQYDRFFEKKIDEKKNDHTYRVFKTVNRRAHIFPMADDYSDSLI
TKKQVSVWCSNDYLGMSRHPRVCGAVMDTLKQHGAGAGGTRNISGTSKFHVDLERELADL
HGKDAALLFSSCFVANDSTLFTLAKMMPGCEIYSDSGNHASMIQGIRNSRVPKYIFRHND
VSHLRELLQRSDPSVPKIVAFETVHSMDGAVCPLEELCDVAHEFGAITFVDEVHAVGLYG
ARGGGIGDRDGVMPKMDIISGTLGKAFGCVGGYIASTSSLIDTVRSYAAGFIFTTSLPPM
LLAGALESVRILKSAEGRVLRRQHQRNVKLMRQMLMDAGLPVVHCPSHIIPVRVADAAKN
TEVCDELMSRHNIYVQAINYPTVPRGEELLRIAPTPHHTPQMMNYFLENLLVTWKQVGLE
LKPHSSAECNFCRRPLHFEVMSEREKSYFSGLSKLVSAQA
NT seq 1923 nt NT seq  +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

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