KEGG   Homo sapiens (human): 3145
Entry
3145              CDS       T01001                                 
Symbol
HMBS, ENCEP, LENCEP, PBG-D, PBGD, PORC, UPS
Name
(RefSeq) hydroxymethylbilane synthase
  KO
K01749  hydroxymethylbilane synthase [EC:2.5.1.61]
Organism
hsa  Homo sapiens (human)
Pathway
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
H00202  Hepatic porphyria
H01763  Porphyria
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09108 Metabolism of cofactors and vitamins
   00860 Porphyrin 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)
SSDB
Motif
Pfam: Porphobil_deam Porphobil_deamC MGS
Other DBs
NCBI-GeneID: 3145
NCBI-ProteinID: NP_000181
OMIM: 609806
HGNC: 4982
Ensembl: ENSG00000256269
UniProt: P08397
Structure
Position
11:119084881..119093549
AA seq 361 aa
MSGNGNAAATAEENSPKMRVIRVGTRKSQLARIQTDSVVATLKASYPGLQFEIIAMSTTG
DKILDTALSKIGEKSLFTKELEHALEKNEVDLVVHSLKDLPTVLPPGFTIGAICKRENPH
DAVVFHPKFVGKTLETLPEKSVVGTSSLRRAAQLQRKFPHLEFRSIRGNLNTRLRKLDEQ
QEFSAIILATAGLQRMGWHNRVGQILHPEECMYAVGQGALGVEVRAKDQDILDLVGVLHD
PETLLRCIAERAFLRHLEGGCSVPVAVHTAMKDGQLYLTGGVWSLDGSDSIQETMQATIH
VPAQHEDGPEDDPQLVGITARNIPRGPQLAAQNLGISLANLLLSKGAKNILDVARQLNDA
H
NT seq 1086 nt   +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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Ontology (2)   
   KEGG BRITE (2)   
Pathway (7)   
   KEGG PATHWAY (3)   
   KEGG MODULE (4)   
Network (2)   
   KEGG NETWORK (2)   
Disease (6)   
   KEGG DISEASE (2)   
   OMIM (4)   
Chemical substance (4)   
   KEGG COMPOUND (4)   
Chemical reaction (2)   
   KEGG ENZYME (1)   
   KEGG REACTION (1)   
Genome (1)   
   KEGG GENOME (1)   
Gene (12)   
   KEGG ORTHOLOGY (1)   
   RefGene (2)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (4)   
   OC (1)   
Protein sequence (28)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (26)   
DNA sequence (64)   
   RefSeq(nuc) (26)   
   GenBank (19)   
   EMBL (19)   
3D Structure (11)   
   PDB (11)   
Protein domain (3)   
   Pfam (3)   
All databases (142)   

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