KEGG   Homo sapiens (human): 3145Help
Entry
3145              CDS       T01001                                 

Gene name
HMBS, PBG-D, PBGD, PORC, UPS
Definition
(RefSeq) hydroxymethylbilane synthase
  KO
K01749  hydroxymethylbilane synthase [EC:2.5.1.61]
Organism
hsa  Homo sapiens (human)
Pathway
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
Disease
H00202  Hepatic porphyria
H01763  Porphyria
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09108 Metabolism of cofactors and vitamins
   00860 Porphyrin and chlorophyll metabolism
    3145 (HMBS)
Enzymes [BR:hsa01000]
 2. Transferases
  2.5  Transferring alkyl or aryl groups, other than methyl groups
   2.5.1  Transferring alkyl or aryl groups, other than methyl groups (only sub-subclass identified to date)
    2.5.1.61  hydroxymethylbilane synthase
     3145 (HMBS)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: Porphobil_deam Porphobil_deamC MGS
Motif
Other DBs
NCBI-GeneID: 3145
NCBI-ProteinID: NP_000181
OMIM: 609806
HGNC: 4982
Ensembl: ENSG00000256269
Vega: OTTHUMG00000168295
Pharos: P08397(Tbio)
UniProt: P08397
Structure
PDB: 

Position
11q23.3
AA seq 361 aa AA seqDB search
MSGNGNAAATAEENSPKMRVIRVGTRKSQLARIQTDSVVATLKASYPGLQFEIIAMSTTG
DKILDTALSKIGEKSLFTKELEHALEKNEVDLVVHSLKDLPTVLPPGFTIGAICKRENPH
DAVVFHPKFVGKTLETLPEKSVVGTSSLRRAAQLQRKFPHLEFRSIRGNLNTRLRKLDEQ
QEFSAIILATAGLQRMGWHNRVGQILHPEECMYAVGQGALGVEVRAKDQDILDLVGVLHD
PETLLRCIAERAFLRHLEGGCSVPVAVHTAMKDGQLYLTGGVWSLDGSDSIQETMQATIH
VPAQHEDGPEDDPQLVGITARNIPRGPQLAAQNLGISLANLLLSKGAKNILDVARQLNDA
H
NT seq 1086 nt NT seq  +upstreamnt  +downstreamnt
atgtctggtaacggcaatgcggctgcaacggcggaagaaaacagcccaaagatgagagtg
attcgcgtgggtacccgcaagagccagcttgctcgcatacagacggacagtgtggtggca
acattgaaagcctcgtaccctggcctgcagtttgaaatcattgctatgtccaccacaggg
gacaagattcttgatactgcactctctaagattggagagaaaagcctgtttaccaaggag
cttgaacatgccctggagaagaatgaagtggacctggttgttcactccttgaaggacctg
cccactgtgcttcctcctggcttcaccatcggagccatctgcaagcgggaaaaccctcat
gatgctgttgtctttcacccaaaatttgttgggaagaccctagaaaccctgccagagaag
agtgtggtgggaaccagctccctgcgaagagcagcccagctgcagagaaagttcccgcat
ctggagttcaggagtattcggggaaacctcaacacccggcttcggaagctggacgagcag
caggagttcagtgccatcatcctggcaacagctggcctgcagcgcatgggctggcacaac
cgggtggggcagatcctgcaccctgaggaatgcatgtatgctgtgggccagggggccttg
ggcgtggaagtgcgagccaaggaccaggacatcttggatctggtgggtgtgctgcacgat
cccgagactctgcttcgctgcatcgctgaaagggccttcctgaggcacctggaaggaggc
tgcagtgtgccagtagccgtgcatacagctatgaaggatgggcaactgtacctgactgga
ggagtctggagtctagacggctcagatagcatacaagagaccatgcaggctaccatccat
gtccctgcccagcatgaagatggccctgaggatgacccacagttggtaggcatcactgct
cgtaacattccacgagggccccagttggctgcccagaacttgggcatcagcctggccaac
ttgttgctgagcaaaggagccaaaaacatcctggatgttgcacggcagcttaacgatgcc
cattaa

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