UPB1: Difference between revisions

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Latest revision as of 09:50, 17 September 2017

Beta-ureidopropionase is an enzyme that in humans is encoded by the UPB1 gene.^[1]^[2]

This gene encodes a protein that belongs to the CN hydrolase family. Beta-ureidopropionase catalyzes the last step in the pyrimidine degradation pathway. The pyrimidine bases uracil and thymine are degraded via the consecutive action of dihydropyrimidine dehydrogenase (DHPDH), dihydropyrimidinase (DHP) and beta-ureidopropionase (UP) to beta-alanine and beta-aminoisobutyric acid, respectively. UP deficiencies are associated with N-carbamyl-beta-amino aciduria and may lead to abnormalities in neurological activity.^[2]

Interactive pathway map

Click on genes, proteins and metabolites below to link to respective articles.^{[§ 1]}

[[File:

<imagemap> Image:FluoropyrimidineActivity_WP1601.png

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<imagemap> Image:FluoropyrimidineActivity_WP1601.png

|{{{bSize}}}px|alt=Fluorouracil (5-FU) Activity edit]]

Fluorouracil (5-FU) Activity edit

↑ The interactive pathway map can be edited at WikiPathways: "FluoropyrimidineActivity_WP1601".

References

↑ Vreken P, van Kuilenburg AB, Hamajima N, Meinsma R, van Lenthe H, Gohlich-Ratmann G, Assmann BE, Wevers RA, van Gennip AH (Dec 1999). "cDNA cloning, genomic structure and chromosomal localization of the human BUP-1 gene encoding beta-ureidopropionase". Biochim Biophys Acta. 1447 (2–3): 251–7. doi:10.1016/s0167-4781(99)00182-7. PMID 10542323.
↑ ^2.0 ^2.1 "Entrez Gene: UPB1 ureidopropionase, beta".

Thomas HR, Ezzeldin HH, Guarcello V, et al. (2008). "Genetic regulation of beta-ureidopropionase and its possible implication in altered uracil catabolism". Pharmacogenet. Genomics. 18 (1): 25–35. doi:10.1097/FPC.0b013e3282f2f134. PMID 18216719.
Thomas HR, Ezzeldin HH, Guarcello V, et al. (2008). "Genetic regulation of dihydropyrimidinase and its possible implication in altered uracil catabolism". Pharmacogenet. Genomics. 17 (11): 973–87. doi:10.1097/FPC.0b013e3282f01788. PMID 18075467.
van Kuilenburg AB, Meinsma R, Assman B, et al. (2007). "Genetic analysis of the first 4 patients with beta-ureidopropionase deficiency". Nucleosides Nucleotides Nucleic Acids. 25 (9–11): 1093–8. doi:10.1080/15257770600956870. PMID 17065070.
Collins JE, Wright CL, Edwards CA, et al. (2005). "A genome annotation-driven approach to cloning the human ORFeome". Genome Biol. 5 (10): R84. doi:10.1186/gb-2004-5-10-r84. PMC 545604. PMID 15461802.
van Kuilenburg AB, Meinsma R, Beke E, et al. (2006). "beta-Ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalities". Hum. Mol. Genet. 13 (22): 2793–801. doi:10.1093/hmg/ddh303. PMID 15385443.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
Sakamoto T, Sakata SF, Matsuda K, et al. (2002). "Expression and properties of human liver beta-ureidopropionase". J. Nutr. Sci. Vitaminol. 47 (2): 132–8. doi:10.3177/jnsv.47.132. PMID 11508704.
Naguib FN, el Kouni MH, Cha S (1985). "Enzymes of uracil catabolism in normal and neoplastic human tissues". Cancer Res. 45 (11 Pt 1): 5405–12. PMID 3931905.

This article on a gene on human chromosome 22 is a stub. You can help Wikipedia by expanding it.

[WikiPathways-3] The interactive pathway map can be edited at WikiPathways: "FluoropyrimidineActivity_WP1601".

[pmid10542323-1] Vreken P, van Kuilenburg AB, Hamajima N, Meinsma R, van Lenthe H, Gohlich-Ratmann G, Assmann BE, Wevers RA, van Gennip AH (Dec 1999). "cDNA cloning, genomic structure and chromosomal localization of the human BUP-1 gene encoding beta-ureidopropionase". Biochim Biophys Acta. 1447 (2–3): 251–7. doi:10.1016/s0167-4781(99)00182-7. PMID 10542323.

[entrez-2] 2.0 ^2.1 "Entrez Gene: UPB1 ureidopropionase, beta".

[1]

[2]

[§ 1]

@@ Line 1: / Line 1: @@
-<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
+{{Infobox_gene}}
-{{PBB_Controls
+'''Beta-ureidopropionase''' is an [[enzyme]] that in humans is encoded by the ''UPB1'' [[gene]].<ref name="pmid10542323">{{cite journal |vauthors=Vreken P, van Kuilenburg AB, Hamajima N, Meinsma R, van Lenthe H, Gohlich-Ratmann G, Assmann BE, Wevers RA, van Gennip AH | title = cDNA cloning, genomic structure and chromosomal localization of the human BUP-1 gene encoding beta-ureidopropionase | journal = Biochim Biophys Acta | volume = 1447 | issue = 2–3 | pages = 251–7 |date=Dec 1999 | pmid = 10542323 | pmc =  | doi =  10.1016/s0167-4781(99)00182-7}}</ref><ref name="entrez">{{cite web | title = Entrez Gene: UPB1 ureidopropionase, beta| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=51733| accessdate = }}</ref>
-| update_page = yes
-| require_manual_inspection = no
-| update_protein_box = yes
-| update_summary = yes
-| update_citations = yes
-}}
-<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
-{{GNF_Protein_box
- | image =
- | image_source =
- | PDB =
- | Name = Ureidopropionase, beta
- | HGNCid = 16297
- | Symbol = UPB1
- | AltSymbols =; BUP1
- | OMIM = 606673
- | ECnumber =
- | Homologene = 9471
- | MGIid = 2143535
-  | GeneAtlas_image1 = PBB_GE_UPB1_220507_s_at_tn.png
- | Function = {{GNF_GO|id=GO:0003837 |text = beta-ureidopropionase activity}}{{GNF_GO|id=GO:0008270 |text = zinc ion binding}}{{GNF_GO|id=GO:0016810 |text = hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds}}{{GNF_GO|id=GO:0046872 |text = metal ion binding}}
- | Component =
- | Process = {{GNF_GO|id=GO:0006807 |text = nitrogen compound metabolic process}}
- | Orthologs = {{GNF_Ortholog_box
-    | Hs_EntrezGene = 51733
-    | Hs_Ensembl = ENSG00000100024
-    | Hs_RefseqProtein = NP_057411
-    | Hs_RefseqmRNA = NM_016327
-    | Hs_GenLoc_db =
-    | Hs_GenLoc_chr = 22
-    | Hs_GenLoc_start = 23221251
-    | Hs_GenLoc_end = 23252552
-    | Hs_Uniprot = Q9UBR1
-    | Mm_EntrezGene = 103149
-    | Mm_Ensembl = ENSMUSG00000033427
-    | Mm_RefseqmRNA = NM_133995
-    | Mm_RefseqProtein = NP_598756
-    | Mm_GenLoc_db =
-    | Mm_GenLoc_chr = 10
-    | Mm_GenLoc_start = 74850749
-    | Mm_GenLoc_end = 74883913
-    | Mm_Uniprot = Q3UEK4
-  }}
-}}
-==Overview==
-'''Ureidopropionase, beta''', also known as '''UPB1''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: UPB1 ureidopropionase, beta| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=51733| accessdate = }}</ref>
 <!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
 {{PBB_Summary
 | section_title =
-| summary_text = This gene encodes a protein that belongs to the CN hydrolase family. Beta-ureidopropionase catalyzes the last step in the pyrimidine degradation pathway. The pyrimidine bases uracil and thymine are degraded via the consecutive action of dihydropyrimidine dehydrogenase (DHPDH), dihydropyrimidinase (DHP) and beta-ureidopropionase (UP) to beta-alanine and beta-aminoisobutyric acid, respectively. UP deficiencies are associated with N-carbamyl-beta-amino aciduria and may lead to abnormalities in neurological activity.<ref name="entrez">{{cite web | title = Entrez Gene: UPB1 ureidopropionase, beta| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=51733| accessdate = }}</ref>
+| summary_text = This gene encodes a protein that belongs to the CN hydrolase family. Beta-ureidopropionase catalyzes the last step in the pyrimidine degradation pathway. The pyrimidine bases [[uracil]] and [[thymine]] are degraded via the consecutive action of [[dihydropyrimidine dehydrogenase]] (DHPDH), [[dihydropyrimidinase]] (DHP) and [[beta-ureidopropionase]] (UP) to [[beta-alanine]] and [[beta-aminoisobutyric acid]], respectively. UP deficiencies are associated with N-carbamyl-beta-amino aciduria and may lead to abnormalities in neurological activity.<ref name="entrez" />
 }}
+== Interactive pathway map ==
+{{FluoropyrimidineActivity WP1601|highlight=UPB1}}
 ==References==
-{{reflist|2}}
+{{reflist}}
 ==Further reading==
 {{refbegin | 2}}
 {{PBB_Further_reading
 | citations =
-*{{cite journal  | author=Thomas HR, Ezzeldin HH, Guarcello V, ''et al.'' |title=Genetic regulation of beta-ureidopropionase and its possible implication in altered uracil catabolism. |journal=Pharmacogenet. Genomics |volume=18 |issue= 1 |pages= 25-35 |year= 2008 |pmid= 18216719 |doi= 10.1097/FPC.0b013e3282f2f134 }}
+*{{cite journal  | author=Thomas HR |title=Genetic regulation of beta-ureidopropionase and its possible implication in altered uracil catabolism |journal=Pharmacogenet. Genomics |volume=18 |issue= 1 |pages= 25–35 |year= 2008 |pmid= 18216719 |doi= 10.1097/FPC.0b013e3282f2f134  |name-list-format=vanc| author2=Ezzeldin HH  | author3=Guarcello V  | display-authors=3  | last4=Mattison  | first4=Lori K.  | last5=Fridley  | first5=Brooke L.  | last6=Diasio  | first6=Robert B. }}
-*{{cite journal  | author=Thomas HR, Ezzeldin HH, Guarcello V, ''et al.'' |title=Genetic regulation of dihydropyrimidinase and its possible implication in altered uracil catabolism. |journal=Pharmacogenet. Genomics |volume=17 |issue= 11 |pages= 973-87 |year= 2008 |pmid= 18075467 |doi= 10.1097/FPC.0b013e3282f01788 }}
+*{{cite journal  | author=Thomas HR |title=Genetic regulation of dihydropyrimidinase and its possible implication in altered uracil catabolism |journal=Pharmacogenet. Genomics |volume=17 |issue= 11 |pages= 973–87 |year= 2008 |pmid= 18075467 |doi= 10.1097/FPC.0b013e3282f01788  |name-list-format=vanc| author2=Ezzeldin HH  | author3=Guarcello V  | display-authors=3  | last4=Mattison  | first4=Lori K.  | last5=Fridley  | first5=Brooke L.  | last6=Diasio  | first6=Robert B. }}
-*{{cite journal  | author=van Kuilenburg AB, Meinsma R, Assman B, ''et al.'' |title=Genetic analysis of the first 4 patients with beta-ureidopropionase deficiency. |journal=Nucleosides Nucleotides Nucleic Acids |volume=25 |issue= 9-11 |pages= 1093-8 |year= 2007 |pmid= 17065070 |doi= 10.1080/15257770600956870 }}
+*{{cite journal  | author=van Kuilenburg AB |title=Genetic analysis of the first 4 patients with beta-ureidopropionase deficiency |journal=Nucleosides Nucleotides Nucleic Acids |volume=25 |issue= 9–11 |pages= 1093–8 |year= 2007 |pmid= 17065070 |doi= 10.1080/15257770600956870  |name-list-format=vanc| author2=Meinsma R  | author3=Assman B  | display-authors=3  | last4=Hoffman  | first4=G.  | last5=Voit  | first5=T.  | last6=Ribes  | first6=A.  | last7=Lorente  | first7=I.  | last8=Busch  | first8=R.  | last9=Mayatepek  | first9=E. }}
-*{{cite journal  | author=Collins JE, Wright CL, Edwards CA, ''et al.'' |title=A genome annotation-driven approach to cloning the human ORFeome. |journal=Genome Biol. |volume=5 |issue= 10 |pages= R84 |year= 2005 |pmid= 15461802 |doi= 10.1186/gb-2004-5-10-r84 }}
+*{{cite journal  | author=Collins JE |title=A genome annotation-driven approach to cloning the human ORFeome |journal=Genome Biol. |volume=5 |issue= 10 |pages= R84 |year= 2005 |pmid= 15461802 |doi= 10.1186/gb-2004-5-10-r84  | pmc=545604  |name-list-format=vanc| author2=Wright CL  | author3=Edwards CA  | display-authors=3  | last4=Davis  | first4=Matthew P  | last5=Grinham  | first5=James A  | last6=Cole  | first6=Charlotte G  | last7=Goward  | first7=Melanie E  | last8=Aguado  | first8=Begoña  | last9=Mallya  | first9=Meera }}
-*{{cite journal  | author=van Kuilenburg AB, Meinsma R, Beke E, ''et al.'' |title=beta-Ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalities. |journal=Hum. Mol. Genet. |volume=13 |issue= 22 |pages= 2793-801 |year= 2006 |pmid= 15385443 |doi= 10.1093/hmg/ddh303 }}
+*{{cite journal  | author=van Kuilenburg AB |title=beta-Ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalities |journal=Hum. Mol. Genet. |volume=13 |issue= 22 |pages= 2793–801 |year= 2006 |pmid= 15385443 |doi= 10.1093/hmg/ddh303  |name-list-format=vanc| author2=Meinsma R  | author3=Beke E  | display-authors=3  | last4=Assmann  | first4=B  | last5=Ribes  | first5=A  | last6=Lorente  | first6=I  | last7=Busch  | first7=R  | last8=Mayatepek  | first8=E  | last9=Abeling  | first9=NG }}
-*{{cite journal  | author=Ota T, Suzuki Y, Nishikawa T, ''et al.'' |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40-5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }}
+*{{cite journal  | author=Ota T |title=Complete sequencing and characterization of 21,243 full-length human cDNAs |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285  |name-list-format=vanc| author2=Suzuki Y  | author3=Nishikawa T  | display-authors=3  | last4=Otsuki  | first4=Tetsuji  | last5=Sugiyama  | first5=Tomoyasu  | last6=Irie  | first6=Ryotaro  | last7=Wakamatsu  | first7=Ai  | last8=Hayashi  | first8=Koji  | last9=Sato  | first9=Hiroyuki }}
-*{{cite journal  | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
+*{{cite journal  | author=Strausberg RL |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899  | pmc=139241  |name-list-format=vanc| author2=Feingold EA  | author3=Grouse LH  | display-authors=3  | last4=Derge  | first4=JG  | last5=Klausner  | first5=RD  | last6=Collins  | first6=FS  | last7=Wagner  | first7=L  | last8=Shenmen  | first8=CM  | last9=Schuler  | first9=GD }}
-*{{cite journal  | author=Sakamoto T, Sakata SF, Matsuda K, ''et al.'' |title=Expression and properties of human liver beta-ureidopropionase. |journal=J. Nutr. Sci. Vitaminol. |volume=47 |issue= 2 |pages= 132-8 |year= 2002 |pmid= 11508704 |doi=  }}
+*{{cite journal  | author=Sakamoto T |title=Expression and properties of human liver beta-ureidopropionase |journal=J. Nutr. Sci. Vitaminol. |volume=47 |issue= 2 |pages= 132–8 |year= 2002 |pmid= 11508704 |doi=  10.3177/jnsv.47.132|name-list-format=vanc| author2=Sakata SF  | author3=Matsuda K  | display-authors=3  | last4=Horikawa  | first4=Y  | last5=Tamaki  | first5=N  }}
-*{{cite journal  | author=Vreken P, van Kuilenburg AB, Hamajima N, ''et al.'' |title=cDNA cloning, genomic structure and chromosomal localization of the human BUP-1 gene encoding beta-ureidopropionase. |journal=Biochim. Biophys. Acta |volume=1447 |issue= 2-3 |pages= 251-7 |year= 1999 |pmid= 10542323 |doi=  }}
+*{{cite journal  |vauthors=Naguib FN, el Kouni MH, Cha S |title=Enzymes of uracil catabolism in normal and neoplastic human tissues |journal=Cancer Res. |volume=45 |issue= 11 Pt 1 |pages= 5405–12 |year= 1985 |pmid= 3931905 |doi=  }}
-*{{cite journal  | author=Naguib FN, el Kouni MH, Cha S |title=Enzymes of uracil catabolism in normal and neoplastic human tissues. |journal=Cancer Res. |volume=45 |issue= 11 Pt 1 |pages= 5405-12 |year= 1985 |pmid= 3931905 |doi=  }}
 }}
 {{refend}}
+{{Nucleotide metabolism enzymes}}
-{{Nucleotide metabolism enzymes}}
+<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
-{{WH}}
+{{PBB_Controls
-{{WS}}
+| update_page = yes
+| require_manual_inspection = no
+| update_protein_box = yes
+| update_summary = yes
+| update_citations = yes
+}}
+{{gene-22-stub}}

UPB1: Difference between revisions

Latest revision as of 09:50, 17 September 2017

Interactive pathway map

References

Further reading

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