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UPB1 (beta-ureidopropionase 1)

Identity

Alias_namesureidopropionase, beta
Alias_symbol (synonym)BUP1
Other alias
HGNC (Hugo) UPB1
LocusID (NCBI) 51733
Atlas_Id 75495
Location 22q11.23  [Link to chromosome band 22q11]
Location_base_pair Starts at 24495283 and ends at 24526585 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
BCR (22q11.23) / UPB1 (22q11.23)SNRPD3 (22q11.23) / UPB1 (22q11.23)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)UPB1   16297
Cards
Entrez_Gene (NCBI)UPB1  51733  beta-ureidopropionase 1
AliasesBUP1
GeneCards (Weizmann)UPB1
Ensembl hg19 (Hinxton)ENSG00000100024 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000100024 [Gene_View]  chr22:24495283-24526585 [Contig_View]  UPB1 [Vega]
ICGC DataPortalENSG00000100024
TCGA cBioPortalUPB1
AceView (NCBI)UPB1
Genatlas (Paris)UPB1
WikiGenes51733
SOURCE (Princeton)UPB1
Genetics Home Reference (NIH)UPB1
Genomic and cartography
GoldenPath hg38 (UCSC)UPB1  -     chr22:24495283-24526585 +  22q11.23   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)UPB1  -     22q11.23   [Description]    (hg19-Feb_2009)
EnsemblUPB1 - 22q11.23 [CytoView hg19]  UPB1 - 22q11.23 [CytoView hg38]
Mapping of homologs : NCBIUPB1 [Mapview hg19]  UPB1 [Mapview hg38]
OMIM606673   613161   
Gene and transcription
Genbank (Entrez)AB013885 AF163312 AK024277 AK314727 BC033388
RefSeq transcript (Entrez)NM_016327
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)UPB1
Cluster EST : UnigeneHs.731656 [ NCBI ]
CGAP (NCI)Hs.731656
Alternative Splicing GalleryENSG00000100024
Gene ExpressionUPB1 [ NCBI-GEO ]   UPB1 [ EBI - ARRAY_EXPRESS ]   UPB1 [ SEEK ]   UPB1 [ MEM ]
Gene Expression Viewer (FireBrowse)UPB1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)51733
GTEX Portal (Tissue expression)UPB1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UBR1   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9UBR1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9UBR1
Splice isoforms : SwissVarQ9UBR1
Catalytic activity : Enzyme3.5.1.6 [ Enzyme-Expasy ]   3.5.1.63.5.1.6 [ IntEnz-EBI ]   3.5.1.6 [ BRENDA ]   3.5.1.6 [ KEGG ]   
PhosPhoSitePlusQ9UBR1
Domaine pattern : Prosite (Expaxy)CN_HYDROLASE (PS50263)   
Domains : Interpro (EBI)C-N_Hydrolase   
Domain families : Pfam (Sanger)CN_hydrolase (PF00795)   
Domain families : Pfam (NCBI)pfam00795   
Conserved Domain (NCBI)UPB1
DMDM Disease mutations51733
Blocks (Seattle)UPB1
SuperfamilyQ9UBR1
Human Protein AtlasENSG00000100024
Peptide AtlasQ9UBR1
HPRD09451
IPIIPI00008842   IPI00903199   IPI00552786   IPI00877727   IPI00465026   
Protein Interaction databases
DIP (DOE-UCLA)Q9UBR1
IntAct (EBI)Q9UBR1
FunCoupENSG00000100024
BioGRIDUPB1
STRING (EMBL)UPB1
ZODIACUPB1
Ontologies - Pathways
QuickGOQ9UBR1
Ontology : AmiGObeta-ureidopropionase activity  cytosol  beta-alanine biosynthetic process  pyrimidine nucleoside catabolic process  metal ion binding  extracellular exosome  
Ontology : EGO-EBIbeta-ureidopropionase activity  cytosol  beta-alanine biosynthetic process  pyrimidine nucleoside catabolic process  metal ion binding  extracellular exosome  
Pathways : KEGGPyrimidine metabolism    beta-Alanine metabolism    Pantothenate and CoA biosynthesis    Drug metabolism - other enzymes   
NDEx NetworkUPB1
Atlas of Cancer Signalling NetworkUPB1
Wikipedia pathwaysUPB1
Orthology - Evolution
OrthoDB51733
GeneTree (enSembl)ENSG00000100024
Phylogenetic Trees/Animal Genes : TreeFamUPB1
HOVERGENQ9UBR1
HOGENOMQ9UBR1
Homologs : HomoloGeneUPB1
Homology/Alignments : Family Browser (UCSC)UPB1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerUPB1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)UPB1
dbVarUPB1
ClinVarUPB1
1000_GenomesUPB1 
Exome Variant ServerUPB1
ExAC (Exome Aggregation Consortium)UPB1 (select the gene name)
Genetic variants : HAPMAP51733
Genomic Variants (DGV)UPB1 [DGVbeta]
DECIPHERUPB1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisUPB1 
Mutations
ICGC Data PortalUPB1 
TCGA Data PortalUPB1 
Broad Tumor PortalUPB1
OASIS PortalUPB1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICUPB1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDUPB1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch UPB1
DgiDB (Drug Gene Interaction Database)UPB1
DoCM (Curated mutations)UPB1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)UPB1 (select a term)
intoGenUPB1
Cancer3DUPB1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM606673    613161   
Orphanet10869   
MedgenUPB1
Genetic Testing Registry UPB1
NextProtQ9UBR1 [Medical]
TSGene51733
GENETestsUPB1
Target ValidationUPB1
Huge Navigator UPB1 [HugePedia]
snp3D : Map Gene to Disease51733
BioCentury BCIQUPB1
ClinGenUPB1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD51733
Chemical/Pharm GKB GenePA418
Clinical trialUPB1
Miscellaneous
canSAR (ICR)UPB1 (select the gene name)
Probes
Litterature
PubMed21 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineUPB1
EVEXUPB1
GoPubMedUPB1
iHOPUPB1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 18 13:43:17 CEST 2017

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