Upb1 ureidopropionase, beta [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Upb1provided by MGI
Official Full Name: ureidopropionase, betaprovided by MGI
Primary source: MGI:MGI:2143535
See related: Ensembl:ENSMUSG00000033427 AllianceGenome:MGI:2143535
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Summary: This gene encodes an enzyme that catalyzes the conversion of N-carbamyl-beta-aminoisobutyric acid and N-carbamyl-beta-alanine to beta-aminoisobutyric acid or beta-alanine. Mutations in the related gene in human have been associated with beta-ureidopropionase deficiency. [provided by RefSeq, Dec 2013]
Expression: Biased expression in liver adult (RPKM 40.3), kidney adult (RPKM 20.2) and 3 other tissues See more
Orthologs: human all
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Genomic context

Location:: 10 C1; 10 38.53 cM

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	10	NC_000076.7 (75242745..75277513)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	10	NC_000076.6 (75406911..75441679)

Chromosome 10 - NC_000076.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

cloning and characterization of rat ortholog
Title: Cloning, sequencing, and expression of a cDNA encoding beta-alanine synthase from rat liver.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (1)

General gene information

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Markers

px-31f3 (e-PCR)
- UniSTS:257585

AI195023 (e-PCR)
- UniSTS:180052

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables beta-ureidopropionase activity	IBA Inferred from Biological aspect of Ancestor more info
enables beta-ureidopropionase activity	IDA Inferred from Direct Assay more info	PubMed
enables beta-ureidopropionase activity	ISO Inferred from Sequence Orthology more info	PubMed
enables catalytic activity	IEA Inferred from Electronic Annotation more info
enables hydrolase activity	IEA Inferred from Electronic Annotation more info
enables protein homodimerization activity	ISO Inferred from Sequence Orthology more info
enables zinc ion binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in CMP catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in UMP catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in beta-alanine biosynthetic process via 3-ureidopropionate	IBA Inferred from Biological aspect of Ancestor more info
involved_in beta-alanine biosynthetic process via 3-ureidopropionate	ISO Inferred from Sequence Orthology more info
involved_in beta-alanine metabolic process	ISO Inferred from Sequence Orthology more info
involved_in dCMP catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in dTMP catabolic process	ISO Inferred from Sequence Orthology more info	PubMed
involved_in dUMP catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in liver development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within metabolic process	IEA Inferred from Electronic Annotation more info
involved_in nitrogen compound metabolic process	IEA Inferred from Electronic Annotation more info
involved_in protein homooligomerization	ISO Inferred from Sequence Orthology more info
involved_in protein homotetramerization	ISO Inferred from Sequence Orthology more info
involved_in pyrimidine nucleoside catabolic process	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
is_active_in cytosol	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: beta-ureidopropionase

Names: N-carbamoyl-beta-alanine amidohydrolase; beta-alanine synthase

NP_598756.1

EC 3.5.1.6

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_133995.4 → NP_598756.1 beta-ureidopropionase

See identical proteins and their annotated locations for NP_598756.1

Status: REVIEWED

Source sequence(s)

AC137067, AK149480

Consensus CDS

CCDS23925.1

UniProtKB/Swiss-Prot

Q8R1K8, Q8VC97

UniProtKB/TrEMBL

Q3UEK4

Related

ENSMUSP00000049342.8, ENSMUST00000039925.8

Conserved Domains (1) summary

cd07587
Location:9 → 371

ML_beta-AS; mammalian-like beta-alanine synthase (beta-AS) and similar proteins (class 5 nitrilases)