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AAGAB (alpha- and gamma-adaptin binding protein)

Identity

Alias_symbol (synonym)FLJ11506
p34
Other aliasKPPP1
PPKP1
PPKP1A
HGNC (Hugo) AAGAB
LocusID (NCBI) 79719
Atlas_Id 56580
Location 15q22.33  [Link to chromosome band 15q22]
Location_base_pair Starts at 67493013 and ends at 67547536 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
AAGAB (15q22.33) / AAGAB (15q22.33)SMAD3 (15q22.33) / AAGAB (15q22.33)

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 Cancer prone implicated (Data extracted from papers in the Atlas) [ 1 ]
  Familial tylosis


External links

Nomenclature
HGNC (Hugo)AAGAB   25662
Cards
Entrez_Gene (NCBI)AAGAB  79719  alpha- and gamma-adaptin binding protein
AliasesKPPP1; PPKP1; PPKP1A; p34
GeneCards (Weizmann)AAGAB
Ensembl hg19 (Hinxton)ENSG00000103591 [Gene_View]  chr15:67493013-67547536 [Contig_View]  AAGAB [Vega]
Ensembl hg38 (Hinxton)ENSG00000103591 [Gene_View]  chr15:67493013-67547536 [Contig_View]  AAGAB [Vega]
ICGC DataPortalENSG00000103591
TCGA cBioPortalAAGAB
AceView (NCBI)AAGAB
Genatlas (Paris)AAGAB
WikiGenes79719
SOURCE (Princeton)AAGAB
Genetics Home Reference (NIH)AAGAB
Genomic and cartography
GoldenPath hg19 (UCSC)AAGAB  -     chr15:67493013-67547536 -  15q22.33   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)AAGAB  -     15q22.33   [Description]    (hg38-Dec_2013)
EnsemblAAGAB - 15q22.33 [CytoView hg19]  AAGAB - 15q22.33 [CytoView hg38]
Mapping of homologs : NCBIAAGAB [Mapview hg19]  AAGAB [Mapview hg38]
OMIM148600   614888   
Gene and transcription
Genbank (Entrez)-
RefSeq transcript (Entrez)NM_001271885 NM_001271886 NM_024666
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)AAGAB
Cluster EST : UnigeneHs.602761 [ NCBI ]
CGAP (NCI)Hs.602761
Alternative Splicing GalleryENSG00000103591
Gene ExpressionAAGAB [ NCBI-GEO ]   AAGAB [ EBI - ARRAY_EXPRESS ]   AAGAB [ SEEK ]   AAGAB [ MEM ]
Gene Expression Viewer (FireBrowse)AAGAB [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)79719
GTEX Portal (Tissue expression)AAGAB
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ6PD74   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ6PD74  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ6PD74
Splice isoforms : SwissVarQ6PD74
PhosPhoSitePlusQ6PD74
Domains : Interpro (EBI)Alpha/Gamma-adaptin-bd_p34    P-loop_NTPase   
Domain families : Pfam (Sanger)Adaptin_binding (PF10199)   
Domain families : Pfam (NCBI)pfam10199   
Conserved Domain (NCBI)AAGAB
DMDM Disease mutations79719
Blocks (Seattle)AAGAB
SuperfamilyQ6PD74
Human Protein AtlasENSG00000103591
Peptide AtlasQ6PD74
HPRD07754
IPIIPI00100193   IPI01009807   IPI01014299   
Protein Interaction databases
DIP (DOE-UCLA)Q6PD74
IntAct (EBI)Q6PD74
FunCoupENSG00000103591
BioGRIDAAGAB
STRING (EMBL)AAGAB
ZODIACAAGAB
Ontologies - Pathways
QuickGOQ6PD74
Ontology : AmiGOprotein binding  nucleoplasm  cytoplasm  cytosol  protein transport  
Ontology : EGO-EBIprotein binding  nucleoplasm  cytoplasm  cytosol  protein transport  
NDEx NetworkAAGAB
Atlas of Cancer Signalling NetworkAAGAB
Wikipedia pathwaysAAGAB
Orthology - Evolution
OrthoDB79719
GeneTree (enSembl)ENSG00000103591
Phylogenetic Trees/Animal Genes : TreeFamAAGAB
HOVERGENQ6PD74
HOGENOMQ6PD74
Homologs : HomoloGeneAAGAB
Homology/Alignments : Family Browser (UCSC)AAGAB
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerAAGAB [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)AAGAB
dbVarAAGAB
ClinVarAAGAB
1000_GenomesAAGAB 
Exome Variant ServerAAGAB
ExAC (Exome Aggregation Consortium)AAGAB (select the gene name)
Genetic variants : HAPMAP79719
Genomic Variants (DGV)AAGAB [DGVbeta]
DECIPHER (Syndromes)15:67493013-67547536  ENSG00000103591
CONAN: Copy Number AnalysisAAGAB 
Mutations
ICGC Data PortalAAGAB 
TCGA Data PortalAAGAB 
Broad Tumor PortalAAGAB
OASIS PortalAAGAB [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICAAGAB  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDAAGAB
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 AAGAB
DgiDB (Drug Gene Interaction Database)AAGAB
DoCM (Curated mutations)AAGAB (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)AAGAB (select a term)
intoGenAAGAB
Cancer3DAAGAB(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM148600    614888   
Orphanet11527   
MedgenAAGAB
Genetic Testing Registry AAGAB
NextProtQ6PD74 [Medical]
TSGene79719
GENETestsAAGAB
Huge Navigator AAGAB [HugePedia]
snp3D : Map Gene to Disease79719
BioCentury BCIQAAGAB
ClinGenAAGAB
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD79719
Chemical/Pharm GKB GenePA165478457
Clinical trialAAGAB
Miscellaneous
canSAR (ICR)AAGAB (select the gene name)
Probes
Litterature
PubMed32 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineAAGAB
EVEXAAGAB
GoPubMedAAGAB
iHOPAAGAB
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Thu Mar 30 14:51:06 CEST 2017

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