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PLEKHF1 (pleckstrin homology and FYVE domain containing 1)

Identity

Alias_namespleckstrin homology domain containing, family F (with FYVE domain) member 1
Alias_symbol (synonym)APPD
MGC4090
PHAFIN1
ZFYVE15
Other aliasLAPF
HGNC (Hugo) PLEKHF1
LocusID (NCBI) 79156
Atlas_Id 71976
Location 19q12  [Link to chromosome band 19q12]
Location_base_pair Starts at 29665420 and ends at 29675476 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
PLEKHF1 (19q12) / EIF3B (7p22.3)

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

 


External links

Nomenclature
HGNC (Hugo)PLEKHF1   20764
Cards
Entrez_Gene (NCBI)PLEKHF1  79156  pleckstrin homology and FYVE domain containing 1
AliasesAPPD; LAPF; PHAFIN1; ZFYVE15
GeneCards (Weizmann)PLEKHF1
Ensembl hg19 (Hinxton)ENSG00000166289 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000166289 [Gene_View]  chr19:29665420-29675476 [Contig_View]  PLEKHF1 [Vega]
ICGC DataPortalENSG00000166289
TCGA cBioPortalPLEKHF1
AceView (NCBI)PLEKHF1
Genatlas (Paris)PLEKHF1
WikiGenes79156
SOURCE (Princeton)PLEKHF1
Genetics Home Reference (NIH)PLEKHF1
Genomic and cartography
GoldenPath hg38 (UCSC)PLEKHF1  -     chr19:29665420-29675476 +  19q12   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PLEKHF1  -     19q12   [Description]    (hg19-Feb_2009)
EnsemblPLEKHF1 - 19q12 [CytoView hg19]  PLEKHF1 - 19q12 [CytoView hg38]
Mapping of homologs : NCBIPLEKHF1 [Mapview hg19]  PLEKHF1 [Mapview hg38]
OMIM615200   
Gene and transcription
Genbank (Entrez)AF434818 AK027758 AK225814 AK301616 AY037145
RefSeq transcript (Entrez)NM_024310
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PLEKHF1
Cluster EST : UnigeneHs.466383 [ NCBI ]
CGAP (NCI)Hs.466383
Alternative Splicing GalleryENSG00000166289
Gene ExpressionPLEKHF1 [ NCBI-GEO ]   PLEKHF1 [ EBI - ARRAY_EXPRESS ]   PLEKHF1 [ SEEK ]   PLEKHF1 [ MEM ]
Gene Expression Viewer (FireBrowse)PLEKHF1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)79156
GTEX Portal (Tissue expression)PLEKHF1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96S99   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96S99  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96S99
Splice isoforms : SwissVarQ96S99
PhosPhoSitePlusQ96S99
Domaine pattern : Prosite (Expaxy)PH_DOMAIN (PS50003)    ZF_FYVE (PS50178)   
Domains : Interpro (EBI)PH_dom-like    PH_domain    Znf_FYVE    Znf_FYVE-rel    Znf_FYVE_PHD    Znf_RING/FYVE/PHD   
Domain families : Pfam (Sanger)FYVE (PF01363)    PH (PF00169)   
Domain families : Pfam (NCBI)pfam01363    pfam00169   
Domain families : Smart (EMBL)FYVE (SM00064)  PH (SM00233)  
Conserved Domain (NCBI)PLEKHF1
DMDM Disease mutations79156
Blocks (Seattle)PLEKHF1
SuperfamilyQ96S99
Human Protein AtlasENSG00000166289
Peptide AtlasQ96S99
HPRD15146
IPIIPI00550625   
Protein Interaction databases
DIP (DOE-UCLA)Q96S99
IntAct (EBI)Q96S99
FunCoupENSG00000166289
BioGRIDPLEKHF1
STRING (EMBL)PLEKHF1
ZODIACPLEKHF1
Ontologies - Pathways
QuickGOQ96S99
Ontology : AmiGOprotein binding  nucleus  lysosome  lysosomal membrane  endosome  apoptotic process  endosome organization  endosome membrane  phosphatidylinositol-5-phosphate binding  positive regulation of autophagy  vesicle organization  phosphatidylinositol-3-phosphate binding  metal ion binding  perinuclear region of cytoplasm  phosphatidylinositol-4-phosphate binding  protein localization to plasma membrane  positive regulation of intrinsic apoptotic signaling pathway  
Ontology : EGO-EBIprotein binding  nucleus  lysosome  lysosomal membrane  endosome  apoptotic process  endosome organization  endosome membrane  phosphatidylinositol-5-phosphate binding  positive regulation of autophagy  vesicle organization  phosphatidylinositol-3-phosphate binding  metal ion binding  perinuclear region of cytoplasm  phosphatidylinositol-4-phosphate binding  protein localization to plasma membrane  positive regulation of intrinsic apoptotic signaling pathway  
NDEx NetworkPLEKHF1
Atlas of Cancer Signalling NetworkPLEKHF1
Wikipedia pathwaysPLEKHF1
Orthology - Evolution
OrthoDB79156
GeneTree (enSembl)ENSG00000166289
Phylogenetic Trees/Animal Genes : TreeFamPLEKHF1
HOVERGENQ96S99
HOGENOMQ96S99
Homologs : HomoloGenePLEKHF1
Homology/Alignments : Family Browser (UCSC)PLEKHF1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPLEKHF1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PLEKHF1
dbVarPLEKHF1
ClinVarPLEKHF1
1000_GenomesPLEKHF1 
Exome Variant ServerPLEKHF1
ExAC (Exome Aggregation Consortium)PLEKHF1 (select the gene name)
Genetic variants : HAPMAP79156
Genomic Variants (DGV)PLEKHF1 [DGVbeta]
DECIPHERPLEKHF1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPLEKHF1 
Mutations
ICGC Data PortalPLEKHF1 
TCGA Data PortalPLEKHF1 
Broad Tumor PortalPLEKHF1
OASIS PortalPLEKHF1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPLEKHF1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPLEKHF1
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 PLEKHF1
DgiDB (Drug Gene Interaction Database)PLEKHF1
DoCM (Curated mutations)PLEKHF1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PLEKHF1 (select a term)
intoGenPLEKHF1
Cancer3DPLEKHF1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM615200   
Orphanet
MedgenPLEKHF1
Genetic Testing Registry PLEKHF1
NextProtQ96S99 [Medical]
TSGene79156
GENETestsPLEKHF1
Target ValidationPLEKHF1
Huge Navigator PLEKHF1 [HugePedia]
snp3D : Map Gene to Disease79156
BioCentury BCIQPLEKHF1
ClinGenPLEKHF1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD79156
Chemical/Pharm GKB GenePA134928547
Clinical trialPLEKHF1
Miscellaneous
canSAR (ICR)PLEKHF1 (select the gene name)
Probes
Litterature
PubMed9 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePLEKHF1
EVEXPLEKHF1
GoPubMedPLEKHF1
iHOPPLEKHF1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 18 13:34:43 CEST 2017

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