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ATPAF1 (ATP synthase mitochondrial F1 complex assembly factor 1)

Identity

Alias_symbol (synonym)FLJ22351
Atp11p
ATP11
Other aliasATP11p
HGNC (Hugo) ATPAF1
LocusID (NCBI) 64756
Atlas_Id 60652
Location 1p33  [Link to chromosome band 1p33]
Location_base_pair Starts at 46635039 and ends at 46668427 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)
ATPAF1 (1p33) / OSBPL9 (1p32.3)ATPAF1 (1p33) / PLIN3 (19p13.3)CRYL1 (13q12.11) / ATPAF1 (1p33)
EFCAB14 (1p33) / ATPAF1 (1p33)SCAF8 (6q25.2) / ATPAF1 (1p33)

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)ATPAF1   18803
Cards
Entrez_Gene (NCBI)ATPAF1  64756  ATP synthase mitochondrial F1 complex assembly factor 1
AliasesATP11; ATP11p
GeneCards (Weizmann)ATPAF1
Ensembl hg19 (Hinxton)ENSG00000123472 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000123472 [Gene_View]  chr1:46635039-46668427 [Contig_View]  ATPAF1 [Vega]
ICGC DataPortalENSG00000123472
TCGA cBioPortalATPAF1
AceView (NCBI)ATPAF1
Genatlas (Paris)ATPAF1
WikiGenes64756
SOURCE (Princeton)ATPAF1
Genetics Home Reference (NIH)ATPAF1
Genomic and cartography
GoldenPath hg38 (UCSC)ATPAF1  -     chr1:46635039-46668427 -  1p33   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ATPAF1  -     1p33   [Description]    (hg19-Feb_2009)
EnsemblATPAF1 - 1p33 [CytoView hg19]  ATPAF1 - 1p33 [CytoView hg38]
Mapping of homologs : NCBIATPAF1 [Mapview hg19]  ATPAF1 [Mapview hg38]
OMIM608917   
Gene and transcription
Genbank (Entrez)AF111705 AI188403 AJ710373 AK026004 AK296360
RefSeq transcript (Entrez)NM_001042546 NM_001243728 NM_001256418 NM_022745
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ATPAF1
Cluster EST : UnigeneHs.100874 [ NCBI ]
CGAP (NCI)Hs.100874
Alternative Splicing GalleryENSG00000123472
Gene ExpressionATPAF1 [ NCBI-GEO ]   ATPAF1 [ EBI - ARRAY_EXPRESS ]   ATPAF1 [ SEEK ]   ATPAF1 [ MEM ]
Gene Expression Viewer (FireBrowse)ATPAF1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)64756
GTEX Portal (Tissue expression)ATPAF1
Human Protein AtlasENSG00000123472-ATPAF1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ5TC12   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ5TC12  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ5TC12
Splice isoforms : SwissVarQ5TC12
PhosPhoSitePlusQ5TC12
Domains : Interpro (EBI)ATP11   
Domain families : Pfam (Sanger)ATP11 (PF06644)   
Domain families : Pfam (NCBI)pfam06644   
Conserved Domain (NCBI)ATPAF1
DMDM Disease mutations64756
Blocks (Seattle)ATPAF1
SuperfamilyQ5TC12
Human Protein Atlas [tissue]ENSG00000123472-ATPAF1 [tissue]
Peptide AtlasQ5TC12
HPRD12332
IPIIPI00152583   IPI00783728   IPI00302673   IPI00984508   IPI00978599   IPI00982976   IPI00985011   IPI00983888   IPI00983216   
Protein Interaction databases
DIP (DOE-UCLA)Q5TC12
IntAct (EBI)Q5TC12
FunCoupENSG00000123472
BioGRIDATPAF1
STRING (EMBL)ATPAF1
ZODIACATPAF1
Ontologies - Pathways
QuickGOQ5TC12
Ontology : AmiGOprotein binding  mitochondrion  mitochondrial proton-transporting ATP synthase complex assembly  
Ontology : EGO-EBIprotein binding  mitochondrion  mitochondrial proton-transporting ATP synthase complex assembly  
NDEx NetworkATPAF1
Atlas of Cancer Signalling NetworkATPAF1
Wikipedia pathwaysATPAF1
Orthology - Evolution
OrthoDB64756
GeneTree (enSembl)ENSG00000123472
Phylogenetic Trees/Animal Genes : TreeFamATPAF1
HOVERGENQ5TC12
HOGENOMQ5TC12
Homologs : HomoloGeneATPAF1
Homology/Alignments : Family Browser (UCSC)ATPAF1
Gene fusions - Rearrangements
Fusion: Tumor Portal ATPAF1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerATPAF1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ATPAF1
dbVarATPAF1
ClinVarATPAF1
1000_GenomesATPAF1 
Exome Variant ServerATPAF1
ExAC (Exome Aggregation Consortium)ENSG00000123472
GNOMAD BrowserENSG00000123472
Genetic variants : HAPMAP64756
Genomic Variants (DGV)ATPAF1 [DGVbeta]
DECIPHERATPAF1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisATPAF1 
Mutations
ICGC Data PortalATPAF1 
TCGA Data PortalATPAF1 
Broad Tumor PortalATPAF1
OASIS PortalATPAF1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICATPAF1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDATPAF1
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
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch ATPAF1
DgiDB (Drug Gene Interaction Database)ATPAF1
DoCM (Curated mutations)ATPAF1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ATPAF1 (select a term)
intoGenATPAF1
Cancer3DATPAF1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608917   
Orphanet19800   
MedgenATPAF1
Genetic Testing Registry ATPAF1
NextProtQ5TC12 [Medical]
TSGene64756
GENETestsATPAF1
Target ValidationATPAF1
Huge Navigator ATPAF1 [HugePedia]
snp3D : Map Gene to Disease64756
BioCentury BCIQATPAF1
ClinGenATPAF1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD64756
Chemical/Pharm GKB GenePA38687
Clinical trialATPAF1
Miscellaneous
canSAR (ICR)ATPAF1 (select the gene name)
Probes
Litterature
PubMed12 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineATPAF1
EVEXATPAF1
GoPubMedATPAF1
iHOPATPAF1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Nov 9 11:38:43 CET 2017

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