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UAP1 (UDP-N-acetylglucosamine pyrophosphorylase 1)

Identity

Alias_namesSPAG2
Alias_symbol (synonym)AGX1
AgX
Other aliasAGX
AGX2
HGNC (Hugo) UAP1
LocusID (NCBI) 6675
Atlas_Id 43549
Location 1q23.3  [Link to chromosome band 1q23]
Location_base_pair Starts at 162561899 and ends at 162599843 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
KDM5B (1q32.1) / UAP1 (1q23.3)SMURF1 (7q22.1) / UAP1 (1q23.3)UAP1 (1q23.3) / BCL9 (1q21.2)
UAP1 (1q23.3) / LIX1L (1q21.1)UAP1 (1q23.3) / MDM2 (12q15)UAP1 (1q23.3) / RGS4 (1q23.3)
UAP1 (1q23.3) / TSHZ2 (20q13.2)KDM5B 1q32.1 / UAP1 1q23.3UAP1 1q23.3 / BCL9 1q21.2
UAP1 1q23.3 / LIX1L 1q21.1UAP1 1q23.3 / MDM2 12q15UAP1 1q23.3 / TSHZ2 20q13.2

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)UAP1   12457
Cards
Entrez_Gene (NCBI)UAP1  6675  UDP-N-acetylglucosamine pyrophosphorylase 1
AliasesAGX; AGX1; AGX2; SPAG2
GeneCards (Weizmann)UAP1
Ensembl hg19 (Hinxton)ENSG00000117143 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000117143 [Gene_View]  chr1:162561899-162599843 [Contig_View]  UAP1 [Vega]
ICGC DataPortalENSG00000117143
TCGA cBioPortalUAP1
AceView (NCBI)UAP1
Genatlas (Paris)UAP1
WikiGenes6675
SOURCE (Princeton)UAP1
Genetics Home Reference (NIH)UAP1
Genomic and cartography
GoldenPath hg38 (UCSC)UAP1  -     chr1:162561899-162599843 +  1q23.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)UAP1  -     1q23.3   [Description]    (hg19-Feb_2009)
EnsemblUAP1 - 1q23.3 [CytoView hg19]  UAP1 - 1q23.3 [CytoView hg38]
Mapping of homologs : NCBIUAP1 [Mapview hg19]  UAP1 [Mapview hg38]
OMIM602862   
Gene and transcription
Genbank (Entrez)AB011004 AK312685 AW136085 BC009377 CB125476
RefSeq transcript (Entrez)NM_001324113 NM_001324114 NM_001324115 NM_001324116 NM_001324117 NM_003115
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)UAP1
Cluster EST : UnigeneHs.492859 [ NCBI ]
CGAP (NCI)Hs.492859
Alternative Splicing GalleryENSG00000117143
Gene ExpressionUAP1 [ NCBI-GEO ]   UAP1 [ EBI - ARRAY_EXPRESS ]   UAP1 [ SEEK ]   UAP1 [ MEM ]
Gene Expression Viewer (FireBrowse)UAP1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6675
GTEX Portal (Tissue expression)UAP1
Human Protein AtlasENSG00000117143-UAP1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ16222   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ16222  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ16222
Splice isoforms : SwissVarQ16222
Catalytic activity : Enzyme2.7.7.83 [ Enzyme-Expasy ]   2.7.7.832.7.7.83 [ IntEnz-EBI ]   2.7.7.83 [ BRENDA ]   2.7.7.83 [ KEGG ]   
PhosPhoSitePlusQ16222
Domains : Interpro (EBI)Nucleotide-diphossugar_trans    UDPGP_fam   
Domain families : Pfam (Sanger)UDPGP (PF01704)   
Domain families : Pfam (NCBI)pfam01704   
Conserved Domain (NCBI)UAP1
DMDM Disease mutations6675
Blocks (Seattle)UAP1
PDB (SRS)1JV1    1JV3    1JVD    1JVG   
PDB (PDBSum)1JV1    1JV3    1JVD    1JVG   
PDB (IMB)1JV1    1JV3    1JVD    1JVG   
PDB (RSDB)1JV1    1JV3    1JVD    1JVG   
Structural Biology KnowledgeBase1JV1    1JV3    1JVD    1JVG   
SCOP (Structural Classification of Proteins)1JV1    1JV3    1JVD    1JVG   
CATH (Classification of proteins structures)1JV1    1JV3    1JVD    1JVG   
SuperfamilyQ16222
Human Protein Atlas [tissue]ENSG00000117143-UAP1 [tissue]
Peptide AtlasQ16222
HPRD04178
IPIIPI00000684   IPI00217816   IPI00607787   IPI00646967   
Protein Interaction databases
DIP (DOE-UCLA)Q16222
IntAct (EBI)Q16222
FunCoupENSG00000117143
BioGRIDUAP1
STRING (EMBL)UAP1
ZODIACUAP1
Ontologies - Pathways
QuickGOQ16222
Ontology : AmiGOUDP-N-acetylglucosamine diphosphorylase activity  UDP-N-acetylglucosamine diphosphorylase activity  nucleoplasm  cytosol  cytosol  cytosol  plasma membrane  UDP-N-acetylglucosamine biosynthetic process  UDP-N-acetylglucosamine biosynthetic process  UDP-N-acetylglucosamine biosynthetic process  carbohydrate binding  identical protein binding  
Ontology : EGO-EBIUDP-N-acetylglucosamine diphosphorylase activity  UDP-N-acetylglucosamine diphosphorylase activity  nucleoplasm  cytosol  cytosol  cytosol  plasma membrane  UDP-N-acetylglucosamine biosynthetic process  UDP-N-acetylglucosamine biosynthetic process  UDP-N-acetylglucosamine biosynthetic process  carbohydrate binding  identical protein binding  
Pathways : KEGGAmino sugar and nucleotide sugar metabolism   
NDEx NetworkUAP1
Atlas of Cancer Signalling NetworkUAP1
Wikipedia pathwaysUAP1
Orthology - Evolution
OrthoDB6675
GeneTree (enSembl)ENSG00000117143
Phylogenetic Trees/Animal Genes : TreeFamUAP1
HOVERGENQ16222
HOGENOMQ16222
Homologs : HomoloGeneUAP1
Homology/Alignments : Family Browser (UCSC)UAP1
Gene fusions - Rearrangements
Fusion : MitelmanKDM5B/UAP1 [1q32.1/1q23.3]  [t(1;1)(q23;q32)]  
Fusion : MitelmanUAP1/BCL9 [1q23.3/1q21.2]  [t(1;1)(q21;q23)]  
Fusion : MitelmanUAP1/LIX1L [1q23.3/1q21.1]  [t(1;1)(q21;q23)]  
Fusion : MitelmanUAP1/MDM2 [1q23.3/12q15]  [t(1;12)(q23;q15)]  
Fusion : MitelmanUAP1/TSHZ2 [1q23.3/20q13.2]  [t(1;20)(q23;q13)]  
Fusion: TCGA_MDACCKDM5B 1q32.1 UAP1 1q23.3 LGG
Fusion: TCGA_MDACCUAP1 1q23.3 BCL9 1q21.2 BRCA
Fusion: TCGA_MDACCUAP1 1q23.3 LIX1L 1q21.1 PRAD
Fusion: TCGA_MDACCUAP1 1q23.3 MDM2 12q15 LUAD
Fusion: TCGA_MDACCUAP1 1q23.3 TSHZ2 20q13.2 BRCA
Tumor Fusion PortalUAP1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerUAP1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)UAP1
dbVarUAP1
ClinVarUAP1
1000_GenomesUAP1 
Exome Variant ServerUAP1
ExAC (Exome Aggregation Consortium)ENSG00000117143
GNOMAD BrowserENSG00000117143
Genetic variants : HAPMAP6675
Genomic Variants (DGV)UAP1 [DGVbeta]
DECIPHERUAP1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisUAP1 
Mutations
ICGC Data PortalUAP1 
TCGA Data PortalUAP1 
Broad Tumor PortalUAP1
OASIS PortalUAP1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICUAP1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDUAP1
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 UAP1
DgiDB (Drug Gene Interaction Database)UAP1
DoCM (Curated mutations)UAP1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)UAP1 (select a term)
intoGenUAP1
Cancer3DUAP1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM602862   
Orphanet
DisGeNETUAP1
MedgenUAP1
Genetic Testing Registry UAP1
NextProtQ16222 [Medical]
TSGene6675
GENETestsUAP1
Target ValidationUAP1
Huge Navigator UAP1 [HugePedia]
snp3D : Map Gene to Disease6675
BioCentury BCIQUAP1
ClinGenUAP1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6675
Chemical/Pharm GKB GenePA37107
Clinical trialUAP1
Miscellaneous
canSAR (ICR)UAP1 (select the gene name)
Probes
Litterature
PubMed18 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineUAP1
EVEXUAP1
GoPubMedUAP1
iHOPUAP1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 21 14:40:23 CET 2017

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