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UAP1 (UDP-N-acetylglucosamine pyrophosphorylase 1)

Identity

Alias (NCBI)AGX
AGX1
AGX2
SPAG2
HGNC (Hugo) UAP1
HGNC Alias symbAGX1
AgX
HGNC Alias nameUDP-N-acetylglucosamine diphosphorylase 1
 UDP-N-acetylhexosamine pyrophosphorylase 1
HGNC Previous nameSPAG2
LocusID (NCBI) 6675
Atlas_Id 43549
Location 1q23.3  [Link to chromosome band 1q23]
Location_base_pair Starts at 162561506 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    UDP-N-acetylglucosamine pyrophosphorylase 1
AliasesAGX; AGX1; AGX2; SPAG2
GeneCards (Weizmann)UAP1
Ensembl hg19 (Hinxton)ENSG00000117143 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000117143 [Gene_View]  ENSG00000117143 [Sequence]  chr1:162561506-162599843 [Contig_View]  UAP1 [Vega]
ICGC DataPortalENSG00000117143
TCGA cBioPortalUAP1
AceView (NCBI)UAP1
Genatlas (Paris)UAP1
SOURCE (Princeton)UAP1
Genetics Home Reference (NIH)UAP1
Genomic and cartography
GoldenPath hg38 (UCSC)UAP1  -     chr1:162561506-162599843 +  1q23.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)UAP1  -     1q23.3   [Description]    (hg19-Feb_2009)
GoldenPathUAP1 - 1q23.3 [CytoView hg19]  UAP1 - 1q23.3 [CytoView hg38]
ImmunoBaseENSG00000117143
Genome Data Viewer NCBIUAP1 [Mapview hg19]  
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_001388401 NM_001388402 NM_003115
Consensus coding sequences : CCDS (NCBI)UAP1
Gene ExpressionUAP1 [ NCBI-GEO ]   UAP1 [ EBI - ARRAY_EXPRESS ]   UAP1 [ SEEK ]   UAP1 [ MEM ]
Gene Expression Viewer (FireBrowse)UAP1 [ Firebrowse - Broad ]
GenevisibleExpression of UAP1 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
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 ]   [ MEROPS ]
PhosPhoSitePlusQ16222
Domains : Interpro (EBI)Nucleotide-diphossugar_trans    UDP-sugar_pyrophosphorylase    UDPGP_fam   
Domain families : Pfam (Sanger)UDPGP (PF01704)   
Domain families : Pfam (NCBI)pfam01704   
Conserved Domain (NCBI)UAP1
PDB (RSDB)1JV1    1JV3    1JVD    1JVG   
PDB Europe1JV1    1JV3    1JVD    1JVG   
PDB (PDBSum)1JV1    1JV3    1JVD    1JVG   
PDB (IMB)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
AlphaFold pdb e-kbQ16222   
Human Protein Atlas [tissue]ENSG00000117143-UAP1 [tissue]
HPRD04178
Protein Interaction databases
DIP (DOE-UCLA)Q16222
IntAct (EBI)Q16222
BioGRIDUAP1
STRING (EMBL)UAP1
ZODIACUAP1
Ontologies - Pathways
QuickGOQ16222
Ontology : AmiGOUDP-N-acetylglucosamine diphosphorylase activity  nucleoplasm  cytosol  cytosol  plasma membrane  UDP-N-acetylglucosamine biosynthetic process  UDP-N-acetylglucosamine biosynthetic process  UDP-N-acetylglucosamine biosynthetic process  carbohydrate binding  identical protein binding  UDP-N-acetylgalactosamine diphosphorylase activity  
Ontology : EGO-EBIUDP-N-acetylglucosamine diphosphorylase activity  nucleoplasm  cytosol  cytosol  plasma membrane  UDP-N-acetylglucosamine biosynthetic process  UDP-N-acetylglucosamine biosynthetic process  UDP-N-acetylglucosamine biosynthetic process  carbohydrate binding  identical protein binding  UDP-N-acetylgalactosamine diphosphorylase activity  
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
Homologs : HomoloGeneUAP1
Homology/Alignments : Family Browser (UCSC)UAP1
Gene fusions - Rearrangements
Fusion : MitelmanKDM5B/UAP1 [1q32.1/1q23.3]  
Fusion : MitelmanUAP1/BCL9 [1q23.3/1q21.2]  
Fusion : MitelmanUAP1/LIX1L [1q23.3/1q21.1]  
Fusion : MitelmanUAP1/MDM2 [1q23.3/12q15]  
Fusion : MitelmanUAP1/TSHZ2 [1q23.3/20q13.2]  
Fusion : QuiverUAP1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerUAP1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)UAP1
dbVarUAP1
ClinVarUAP1
MonarchUAP1
1000_GenomesUAP1 
Exome Variant ServerUAP1
GNOMAD BrowserENSG00000117143
Varsome BrowserUAP1
ACMGUAP1 variants
VarityQ16222
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]  
Somatic Mutations in Cancer : COSMIC3DUAP1
Mutations and Diseases : HGMDUAP1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaUAP1
DgiDB (Drug Gene Interaction Database)UAP1
DoCM (Curated mutations)UAP1
CIViC (Clinical Interpretations of Variants in Cancer)UAP1
Cancer3DUAP1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM602862   
Orphanet
DisGeNETUAP1
MedgenUAP1
Genetic Testing Registry UAP1
NextProtQ16222 [Medical]
GENETestsUAP1
Target ValidationUAP1
Huge Navigator UAP1 [HugePedia]
ClinGenUAP1
Clinical trials, drugs, therapy
MyCancerGenomeUAP1
Protein Interactions : CTDUAP1
Pharm GKB GenePA37107
PharosQ16222
Clinical trialUAP1
Miscellaneous
canSAR (ICR)UAP1
HarmonizomeUAP1
DataMed IndexUAP1
Probes
Litterature
PubMed26 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXUAP1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:37:00 CEST 2021

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