Atlas of Genetics and Cytogenetics in Oncology and Haematology


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GPN1 (GPN-loop GTPase 1)

Identity

Alias_namesXAB1
XPA binding protein 1
XPA binding protein 1, GTPase
Alias_symbol (synonym)NTPBP
MBDIN
ATPBD1A
RPAP4
Other alias
HGNC (Hugo) GPN1
LocusID (NCBI) 11321
Atlas_Id 43557
Location 2p23.3  [Link to chromosome band 2p23]
Location_base_pair Starts at 27628648 and ends at 27650846 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)
GPN1 (2p23.3) / KLHL29 (2p24.1)SLC4A1AP (2p23.3) / GPN1 (2p23.3)ZNF512 (2p23.3) / GPN1 (2p23.3)
SLC4A1AP 2p23.3 / GPN1 2p23.3

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

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  Lung: Translocations in Squamous Cell Carcinoma


External links

Nomenclature
HGNC (Hugo)GPN1   17030
Cards
Entrez_Gene (NCBI)GPN1  11321  GPN-loop GTPase 1
AliasesATPBD1A; MBDIN; NTPBP; RPAP4; 
XAB1
GeneCards (Weizmann)GPN1
Ensembl hg19 (Hinxton)ENSG00000198522 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000198522 [Gene_View]  chr2:27628648-27650846 [Contig_View]  GPN1 [Vega]
ICGC DataPortalENSG00000198522
TCGA cBioPortalGPN1
AceView (NCBI)GPN1
Genatlas (Paris)GPN1
WikiGenes11321
SOURCE (Princeton)GPN1
Genetics Home Reference (NIH)GPN1
Genomic and cartography
GoldenPath hg38 (UCSC)GPN1  -     chr2:27628648-27650846 +  2p23.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)GPN1  -     2p23.3   [Description]    (hg19-Feb_2009)
EnsemblGPN1 - 2p23.3 [CytoView hg19]  GPN1 - 2p23.3 [CytoView hg38]
Mapping of homologs : NCBIGPN1 [Mapview hg19]  GPN1 [Mapview hg38]
OMIM611479   
Gene and transcription
Genbank (Entrez)AB044661 AJ010842 AK298827 AK298866 AK302131
RefSeq transcript (Entrez)NM_001145047 NM_001145048 NM_001145049 NM_007266
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)GPN1
Cluster EST : UnigeneHs.18259 [ NCBI ]
CGAP (NCI)Hs.18259
Alternative Splicing GalleryENSG00000198522
Gene ExpressionGPN1 [ NCBI-GEO ]   GPN1 [ EBI - ARRAY_EXPRESS ]   GPN1 [ SEEK ]   GPN1 [ MEM ]
Gene Expression Viewer (FireBrowse)GPN1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)11321
GTEX Portal (Tissue expression)GPN1
Human Protein AtlasENSG00000198522-GPN1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9HCN4   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9HCN4  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9HCN4
Splice isoforms : SwissVarQ9HCN4
PhosPhoSitePlusQ9HCN4
Domains : Interpro (EBI)AAA+_ATPase    Gpn    Gpn1/Npa3/XAB1    P-loop_NTPase   
Domain families : Pfam (Sanger)ATP_bind_1 (PF03029)   
Domain families : Pfam (NCBI)pfam03029   
Domain families : Smart (EMBL)AAA (SM00382)  
Conserved Domain (NCBI)GPN1
DMDM Disease mutations11321
Blocks (Seattle)GPN1
SuperfamilyQ9HCN4
Human Protein Atlas [tissue]ENSG00000198522-GPN1 [tissue]
Peptide AtlasQ9HCN4
HPRD10308
IPIIPI00027035   IPI00893185   IPI00893585   IPI00921612   IPI00921576   
Protein Interaction databases
DIP (DOE-UCLA)Q9HCN4
IntAct (EBI)Q9HCN4
FunCoupENSG00000198522
BioGRIDGPN1
STRING (EMBL)GPN1
ZODIACGPN1
Ontologies - Pathways
QuickGOQ9HCN4
Ontology : AmiGOGTPase activity  protein binding  GTP binding  nucleoplasm  mitochondrion  cytosol  RNA polymerase II complex import to nucleus  RNA polymerase III complex localization to nucleus  
Ontology : EGO-EBIGTPase activity  protein binding  GTP binding  nucleoplasm  mitochondrion  cytosol  RNA polymerase II complex import to nucleus  RNA polymerase III complex localization to nucleus  
NDEx NetworkGPN1
Atlas of Cancer Signalling NetworkGPN1
Wikipedia pathwaysGPN1
Orthology - Evolution
OrthoDB11321
GeneTree (enSembl)ENSG00000198522
Phylogenetic Trees/Animal Genes : TreeFamGPN1
HOVERGENQ9HCN4
HOGENOMQ9HCN4
Homologs : HomoloGeneGPN1
Homology/Alignments : Family Browser (UCSC)GPN1
Gene fusions - Rearrangements
Fusion : MitelmanGPN1/KLHL29 [2p23.3/2p24.1]  
Fusion : MitelmanSLC4A1AP/GPN1 [2p23.3/2p23.3]  [t(2;2)(p23;p23)]  
Fusion: TCGA_MDACCSLC4A1AP 2p23.3 GPN1 2p23.3 GBM
Tumor Fusion PortalGPN1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerGPN1 [hg38]
=a(href=../extdef.html#SNP TARGET=SNP>dbSNP Single Nucleotide Polymorphism (NCBI)GPN1
dbVarGPN1
ClinVarGPN1
1000_GenomesGPN1 
Exome Variant ServerGPN1
ExAC (Exome Aggregation Consortium)ENSG00000198522
GNOMAD BrowserENSG00000198522
Genetic variants : HAPMAP11321
Genomic Variants (DGV)GPN1 [DGVbeta]
DECIPHERGPN1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisGPN1 
Mutations
ICGC Data PortalGPN1 
TCGA Data PortalGPN1 
Broad Tumor PortalGPN1
OASIS PortalGPN1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICGPN1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDGPN1
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 GPN1
DgiDB (Drug Gene Interaction Database)GPN1
DoCM (Curated mutations)GPN1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)GPN1 (select a term)
intoGenGPN1
Cancer3DGPN1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM611479   
Orphanet
DisGeNETGPN1
MedgenGPN1
Genetic Testing Registry GPN1
NextProtQ9HCN4 [Medical]
TSGene11321
GENETestsGPN1
Target ValidationGPN1
Huge Navigator GPN1 [HugePedia]
snp3D : Map Gene to Disease11321
BioCentury BCIQGPN1
ClinGenGPN1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD11321
Chemical/Pharm GKB GenePA162390148
Clinical trialGPN1
Miscellaneous
canSAR (ICR)GPN1 (select the gene name)
Probes
Litterature
PubMed32 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineGPN1
EVEXGPN1
GoPubMedGPN1
iHOPGPN1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Nov 21 14:15:08 CET 2017

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