Peptide Sequence: MPGRCQSDAA MRVNGPASRA PAGWTSGSLH TGPRAGRPRA QARGVRGRGL LLRPRPAKEL PLPRKGGAWA PAGNPGPLHP LGVAVGMAGS GRLVLRPWIR ELILGSETPS SPRAGQLLEV LQDAEAAVAG PSHAPDTSDV GATLLVSDGT HSVRCLVTRE ALDTSDWEEK EFGFRGTEGR LLLLQDCGVH VQVAEGGAPA EFYLQVDRFS LLPTEQPRLR VPGCNQDLDV QKKLYDCLEE HLSESTSSNA GLSLSQLLDE MREDQEHQGA LVCLAESCLT LEGPCTAPPV THWAASRCKA TGEAVYTVPS SMLCISENDQ LILSSLGPCQ RTQGPELPPP DPALQDLSLT LIASPPSSPS SSGTPALPGH MSSEESGTSI SLLPALSLAA PDPGQRSSSQ PSPAICSAPA TLTPRSPHAS RTPSSPLQSC TPSLSPRSHV PSPHQALVTR PQKPSLEFKE FVGLPCKNRP PFPRTGATRG AQEPCSVWEP PKRHRDGSAF QYEYEPPCTS LCARVQAARL PPQLMAWALH FLMDAQPGSE PTPM
This gene encodes a uridine 5' -monophosphate synthase. The encoded protein is a bifunctional enzyme that catalyzes the final two steps of the de novo pyrimidine biosynthetic pathway. The first reaction is carried out by the N-terminal enzyme orotate phosphoribosyltransferase which converts orotic acid to orotidine-5' -monophosphate. The terminal reaction is carried out by the C-terminal enzyme OMP decarboxylase which converts orotidine-5' -monophosphate to uridine monophosphate. Defects in this gene are the cause of hereditary orotic aciduria. Alternate splicing results in multiple transcript variants.
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Protein Aliases: Adrenocortical dysplasia protein homolog; POT1 and TIN2-interacting protein; TIN2 interacting protein 1; TPP 1; TPP I; TPPI
Gene Aliases: ACD; PIP1; PTOP; TINT1; TPP1
UniProt ID: (Human) Q96AP0
Entrez Gene ID: (Human) 65057