RBCC Red Blood Cell Collection

UMPS_HUMAN

Source: PM19886704
PM23856902
Marked as 'Non-membrane protein'
Confidence: low (only semi-automatic identification from reviews) Search PubMed for
(RBC AND this entry)
Gene names: UMPS , OK/SW-cl.21
Protein names and data: UMPS_HUMAN , Uridine 5'-monophosphate synthase; UMP synthase; Orotate phosphoribosyltransferase; OPRT; OPRTase; 2.4.2.10; Orotidine 5'-phosphate decarboxylase; ODC; 4.1.1.23 , OMPdecase Lenght: 480 a.a.
Mass: 52222 Da
fasta formatted sequence
Catalytic activity: Orotidine 5'-phosphate + diphosphate = orotate + 5-phospho-alpha-D-ribose 1-diphosphate. Orotidine 5'-phosphate = UMP + CO(2).
Pathway: Pyrimidine metabolism; UMP biosynthesis via de novo pathway; UMP from orotate: step 1/2. Pyrimidine metabolism; UMP biosynthesis via de novo pathway; UMP from orotate: step 2/2.
Disease: ( OMIM: 258900 613891 ) Orotic aciduria 1 (ORAC1) [MIM:258900]: A disorder of pyrimidine metabolism resulting in megaloblastic anemia and orotic acid crystalluria that is frequently associated with some degree of physical and mental retardation. A minority of cases have additional features, particularly congenital malformations and immune deficiencies. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genetic variants

30 - 30 S -> G (in dbSNP:rs17843776). VAR_020614 17843776
96 - 96 R -> G (in ORAC1). VAR_006807
109 - 109 V -> G (in ORAC1). VAR_006808
213 - 213 G -> A (in dbSNP:rs1801019). VAR_006809 1801019
429 - 429 G -> R (in ORAC1). VAR_006810
446 - 446 I -> V (in dbSNP:rs3772809). VAR_020615 3772809

Database cross-references

UniProt: P11172
Ensembl: ENST00000232607
Ensembl: ENST00000413078
Ensembl: ENST00000536109
Ensembl: ENST00000538242
MIM: 258900
MIM: 613891
neXtProt: NX_P11172
Antibodypedia: P11172 (may not find the protein thus also not any antibody)
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