Homo sapiens (human): 7390
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Entry
7390 CDS
T01001
Gene name
UROS, UROIIIS
Definition
(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)
BRITE hierarchy
SSDB
Ortholog
Paralog
GFIT
Motif
Pfam:
HEM4
Motif
Other DBs
NCBI-GeneID:
7390
NCBI-ProteinID:
NP_000366
OMIM:
606938
HGNC:
12592
Ensembl:
ENSG00000188690
Vega:
OTTHUMG00000019236
Pharos:
P10746
(Tbio)
UniProt:
P10746
A0A0S2Z4T8
LinkDB
All DBs
Structure
PDB:
1JR2
Thumbnails
Position
10q26.2
AA seq
265 aa
AA seq
DB search
MKVLLLKDAKEDDCGQDPYIRELGLYGLEATLIPVLSFEFLSLPSFSEKLSHPEDYGGLI
FTSPRAVEAAELCLEQNNKTEVWERSLKEKWNAKSVYVVGNATASLVSKIGLDTEGETCG
NAEKLAEYICSRESSALPLLFPCGNLKREILPKALKDKGIAMESITVYQTVAHPGIQGNL
NSYYSQQGVPASITFFSPSGLTYSLKHIQELSGDNIDQIKFAAIGPTTARALAAQGLPVS
CTAESPTPQALATGIRKALQPHGCC
NT seq
798 nt
NT seq
+upstream
nt +downstream
nt
atgaaggttcttttactgaaggatgcgaaggaagatgactgtggccaggatccgtatatc
agggaattaggattatatggacttgaagccactttgatccctgttttatcgtttgagttt
ttgtctcttcccagtttctctgagaagctttctcatcctgaagattacgggggactcatt
tttaccagccccagagcagtggaagcagcagagttatgtttggagcaaaacaataaaact
gaagtctgggaaaggtctctgaaagaaaaatggaatgccaagtcagtgtatgtggttgga
aatgctactgcttctctagtgagtaaaattggcctggatacagaaggagaaacctgtgga
aatgcagaaaagcttgcagaatatatttgttccagggagtcctcagcactgcctcttcta
tttccctgtggaaacctcaaaagagaaatcctgccaaaagcgctcaaggacaaagggatt
gccatggaaagcataactgtgtatcagacagttgcacacccaggaatccaagggaacctg
aacagctactattcccagcagggggttccagccagcatcacattttttagtccctctggc
ctcacatacagtctcaagcacattcaggagttatctggtgacaatatcgatcaaattaag
tttgcagccatcggccccactacggctcgcgcgctggccgcccagggccttcctgtaagc
tgcactgcagagagccccacgccacaagccctggccactggcatcaggaaggctctccag
ccccatggctgctgctga
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