KEGG   Homo sapiens (human): 7390
Entry
7390              CDS       T01001                                 

Symbol
UROS, UROIIIS
Name
(RefSeq) uroporphyrinogen III synthase
  KO
K01719  uroporphyrinogen-III synthase [EC:4.2.1.75]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00860  Porphyrin and chlorophyll 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
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
Disease
H00201  Erythropoietic porphyria
H01763  Porphyria
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09108 Metabolism of cofactors and vitamins
   00860 Porphyrin and chlorophyll metabolism
    7390 (UROS)
Enzymes [BR:hsa01000]
 4. Lyases
  4.2  Carbon-oxygen lyases
   4.2.1  Hydro-lyases
    4.2.1.75  uroporphyrinogen-III synthase
     7390 (UROS)
SSDB
Motif
Pfam: HEM4
Other DBs
NCBI-GeneID: 7390
NCBI-ProteinID: NP_000366
OMIM: 606938
HGNC: 12592
Ensembl: ENSG00000188690
Vega: OTTHUMG00000019236
Pharos: P10746(Tbio)
UniProt: P10746 A0A0S2Z4T8
LinkDB
Structure
PDB: 
1JR2

Position
10q26.2
AA seq 265 aa
MKVLLLKDAKEDDCGQDPYIRELGLYGLEATLIPVLSFEFLSLPSFSEKLSHPEDYGGLI
FTSPRAVEAAELCLEQNNKTEVWERSLKEKWNAKSVYVVGNATASLVSKIGLDTEGETCG
NAEKLAEYICSRESSALPLLFPCGNLKREILPKALKDKGIAMESITVYQTVAHPGIQGNL
NSYYSQQGVPASITFFSPSGLTYSLKHIQELSGDNIDQIKFAAIGPTTARALAAQGLPVS
CTAESPTPQALATGIRKALQPHGCC
NT seq 798 nt   +upstreamnt  +downstreamnt
atgaaggttcttttactgaaggatgcgaaggaagatgactgtggccaggatccgtatatc
agggaattaggattatatggacttgaagccactttgatccctgttttatcgtttgagttt
ttgtctcttcccagtttctctgagaagctttctcatcctgaagattacgggggactcatt
tttaccagccccagagcagtggaagcagcagagttatgtttggagcaaaacaataaaact
gaagtctgggaaaggtctctgaaagaaaaatggaatgccaagtcagtgtatgtggttgga
aatgctactgcttctctagtgagtaaaattggcctggatacagaaggagaaacctgtgga
aatgcagaaaagcttgcagaatatatttgttccagggagtcctcagcactgcctcttcta
tttccctgtggaaacctcaaaagagaaatcctgccaaaagcgctcaaggacaaagggatt
gccatggaaagcataactgtgtatcagacagttgcacacccaggaatccaagggaacctg
aacagctactattcccagcagggggttccagccagcatcacattttttagtccctctggc
ctcacatacagtctcaagcacattcaggagttatctggtgacaatatcgatcaaattaag
tttgcagccatcggccccactacggctcgcgcgctggccgcccagggccttcctgtaagc
tgcactgcagagagccccacgccacaagccctggccactggcatcaggaaggctctccag
ccccatggctgctgctga

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