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
Porphyrin and chlorophyll metabolism
Metabolic pathways
Disease
H00202  
Hepatic porphyria
H01763  
Porphyria
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Metabolism
  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 Motif
Other DBs
NCBI-GeneID: 
NCBI-ProteinID: 
OMIM: 
HGNC: 
Ensembl: 
Vega: 
Pharos: 
P08397(Tbio)
UniProt: 
Structure
PDB: 

Jmol
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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