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
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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