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ATPAF1 (ATP synthase mitochondrial F1 complex assembly factor 1)

Identity

Alias (NCBI)ATP11
ATP11p
HGNC (Hugo) ATPAF1
HGNC Alias symbFLJ22351
Atp11p
ATP11
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    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]  ENSG00000123472 [Sequence]  chr1:46635039-46668427 [Contig_View]  ATPAF1 [Vega]
ICGC DataPortalENSG00000123472
TCGA cBioPortalATPAF1
AceView (NCBI)ATPAF1
Genatlas (Paris)ATPAF1
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)
GoldenPathATPAF1 - 1p33 [CytoView hg19]  ATPAF1 - 1p33 [CytoView hg38]
ImmunoBaseENSG00000123472
Genome Data Viewer NCBIATPAF1 [Mapview hg19]  
OMIM608917   
Gene and transcription
Genbank (Entrez)AF111705 AI188403 AJ710373 AK026004 AK296360
RefSeq transcript (Entrez)NM_001042546 NM_001243728 NM_001256418 NM_001394565 NM_022745
Consensus coding sequences : CCDS (NCBI)ATPAF1
Gene ExpressionATPAF1 [ NCBI-GEO ]   ATPAF1 [ EBI - ARRAY_EXPRESS ]   ATPAF1 [ SEEK ]   ATPAF1 [ MEM ]
Gene Expression Viewer (FireBrowse)ATPAF1 [ Firebrowse - Broad ]
GenevisibleExpression of ATPAF1 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
PhosPhoSitePlusQ5TC12
Domains : Interpro (EBI)ATP11   
Domain families : Pfam (Sanger)ATP11 (PF06644)   
Domain families : Pfam (NCBI)pfam06644   
Conserved Domain (NCBI)ATPAF1
SuperfamilyQ5TC12
AlphaFold pdb e-kbQ5TC12   
Human Protein Atlas [tissue]ENSG00000123472-ATPAF1 [tissue]
HPRD12332
Protein Interaction databases
DIP (DOE-UCLA)Q5TC12
IntAct (EBI)Q5TC12
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
Homologs : HomoloGeneATPAF1
Homology/Alignments : Family Browser (UCSC)ATPAF1
Gene fusions - Rearrangements
Fusion : QuiverATPAF1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerATPAF1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ATPAF1
dbVarATPAF1
ClinVarATPAF1
MonarchATPAF1
1000_GenomesATPAF1 
Exome Variant ServerATPAF1
GNOMAD BrowserENSG00000123472
Varsome BrowserATPAF1
ACMGATPAF1 variants
VarityQ5TC12
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]  
Somatic Mutations in Cancer : COSMIC3DATPAF1
Mutations and Diseases : HGMDATPAF1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaATPAF1
DgiDB (Drug Gene Interaction Database)ATPAF1
DoCM (Curated mutations)ATPAF1
CIViC (Clinical Interpretations of Variants in Cancer)ATPAF1
Cancer3DATPAF1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608917   
Orphanet19800   
DisGeNETATPAF1
MedgenATPAF1
Genetic Testing Registry ATPAF1
NextProtQ5TC12 [Medical]
GENETestsATPAF1
Target ValidationATPAF1
Huge Navigator ATPAF1 [HugePedia]
ClinGenATPAF1
Clinical trials, drugs, therapy
MyCancerGenomeATPAF1
Protein Interactions : CTDATPAF1
Pharm GKB GenePA38687
PharosQ5TC12
Clinical trialATPAF1
Miscellaneous
canSAR (ICR)ATPAF1
HarmonizomeATPAF1
DataMed IndexATPAF1
Probes
Litterature
PubMed20 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXATPAF1
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 15:43:01 CEST 2021

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