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ANKFY1 (ankyrin repeat and FYVE domain containing 1)

Identity

Alias_symbol (synonym)ANKHZN
KIAA1255
ZFYVE14
BTBD23
RANK-5
Other alias
HGNC (Hugo) ANKFY1
LocusID (NCBI) 51479
Atlas_Id 54121
Location 17p13.2  [Link to chromosome band 17p13]
Location_base_pair Starts at 4066665 and ends at 4167142 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ADAM9 (8p11.22) / ANKFY1 (17p13.2)ANKFY1 (17p13.2) / ANKFY1 (17p13.2)ANKFY1 (17p13.2) / STX4 (16p11.2)
CYB5D2 (17p13.2) / ANKFY1 (17p13.2)PDCD11 (10q24.33) / ANKFY1 (17p13.2)ZZEF1 (17p13.2) / ANKFY1 (17p13.2)
ZZEF1 17p13.2 / ANKFY1 17p13.2

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)ANKFY1   20763
Cards
Entrez_Gene (NCBI)ANKFY1  51479  ankyrin repeat and FYVE domain containing 1
AliasesANKHZN; BTBD23; ZFYVE14
GeneCards (Weizmann)ANKFY1
Ensembl hg19 (Hinxton)ENSG00000185722 [Gene_View]  chr17:4066665-4167142 [Contig_View]  ANKFY1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000185722 [Gene_View]  chr17:4066665-4167142 [Contig_View]  ANKFY1 [Vega]
ICGC DataPortalENSG00000185722
TCGA cBioPortalANKFY1
AceView (NCBI)ANKFY1
Genatlas (Paris)ANKFY1
WikiGenes51479
SOURCE (Princeton)ANKFY1
Genetics Home Reference (NIH)ANKFY1
Genomic and cartography
GoldenPath hg19 (UCSC)ANKFY1  -     chr17:4066665-4167142 -  17p13.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)ANKFY1  -     17p13.2   [Description]    (hg38-Dec_2013)
EnsemblANKFY1 - 17p13.2 [CytoView hg19]  ANKFY1 - 17p13.2 [CytoView hg38]
Mapping of homologs : NCBIANKFY1 [Mapview hg19]  ANKFY1 [Mapview hg38]
OMIM607927   
Gene and transcription
Genbank (Entrez)AB033081 AB037360 AB073897 AK025483 AK025717
RefSeq transcript (Entrez)NM_001257999 NM_016376 NM_020740
RefSeq genomic (Entrez)NC_000017 NC_018928 NT_010718 NW_004929405
Consensus coding sequences : CCDS (NCBI)ANKFY1
Cluster EST : UnigeneHs.696087 [ NCBI ]
CGAP (NCI)Hs.696087
Alternative Splicing GalleryENSG00000185722
Gene ExpressionANKFY1 [ NCBI-GEO ]   ANKFY1 [ EBI - ARRAY_EXPRESS ]   ANKFY1 [ SEEK ]   ANKFY1 [ MEM ]
Gene Expression Viewer (FireBrowse)ANKFY1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)51479
GTEX Portal (Tissue expression)ANKFY1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9P2R3   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9P2R3  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9P2R3
Splice isoforms : SwissVarQ9P2R3
PhosPhoSitePlusQ9P2R3
Domaine pattern : Prosite (Expaxy)ANK_REP_REGION (PS50297)    ANK_REPEAT (PS50088)    BTB (PS50097)    ZF_FYVE (PS50178)   
Domains : Interpro (EBI)Ankyrin_rpt    Ankyrin_rpt-contain_dom    BTB/POZ_dom    SKP1/BTB/POZ    Znf_FYVE    Znf_FYVE-rel    Znf_FYVE_PHD    Znf_RING/FYVE/PHD   
Domain families : Pfam (Sanger)Ank_2 (PF12796)    BTB (PF00651)    FYVE (PF01363)   
Domain families : Pfam (NCBI)pfam12796    pfam00651    pfam01363   
Domain families : Smart (EMBL)ANK (SM00248)  BTB (SM00225)  FYVE (SM00064)  
Conserved Domain (NCBI)ANKFY1
DMDM Disease mutations51479
Blocks (Seattle)ANKFY1
SuperfamilyQ9P2R3
Human Protein AtlasENSG00000185722
Peptide AtlasQ9P2R3
HPRD09717
IPIIPI00159899   IPI00914539   IPI00375301   IPI01019010   IPI00983472   
Protein Interaction databases
DIP (DOE-UCLA)Q9P2R3
IntAct (EBI)Q9P2R3
FunCoupENSG00000185722
BioGRIDANKFY1
STRING (EMBL)ANKFY1
ZODIACANKFY1
Ontologies - Pathways
QuickGOQ9P2R3
Ontology : AmiGOprotein binding  lysosomal membrane  early endosome  cytosol  endocytosis  endosome membrane  membrane  Rab GTPase binding  retromer complex  endosome localization  endosomal vesicle fusion  retrograde transport, endosome to Golgi  macropinosome  metal ion binding  positive regulation of pinocytosis  extracellular exosome  Golgi to lysosome transport  phosphatidylinositol phosphate binding  
Ontology : EGO-EBIprotein binding  lysosomal membrane  early endosome  cytosol  endocytosis  endosome membrane  membrane  Rab GTPase binding  retromer complex  endosome localization  endosomal vesicle fusion  retrograde transport, endosome to Golgi  macropinosome  metal ion binding  positive regulation of pinocytosis  extracellular exosome  Golgi to lysosome transport  phosphatidylinositol phosphate binding  
NDEx NetworkANKFY1
Atlas of Cancer Signalling NetworkANKFY1
Wikipedia pathwaysANKFY1
Orthology - Evolution
OrthoDB51479
GeneTree (enSembl)ENSG00000185722
Phylogenetic Trees/Animal Genes : TreeFamANKFY1
HOVERGENQ9P2R3
HOGENOMQ9P2R3
Homologs : HomoloGeneANKFY1
Homology/Alignments : Family Browser (UCSC)ANKFY1
Gene fusions - Rearrangements
Fusion : MitelmanCYB5D2/ANKFY1 [17p13.2/17p13.2]  [t(17;17)(p13;p13)]  
Fusion : MitelmanZZEF1/ANKFY1 [17p13.2/17p13.2]  [t(17;17)(p13;p13)]  
Fusion: TCGAZZEF1 17p13.2 ANKFY1 17p13.2 KIRC
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerANKFY1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ANKFY1
dbVarANKFY1
ClinVarANKFY1
1000_GenomesANKFY1 
Exome Variant ServerANKFY1
ExAC (Exome Aggregation Consortium)ANKFY1 (select the gene name)
Genetic variants : HAPMAP51479
Genomic Variants (DGV)ANKFY1 [DGVbeta]
DECIPHER (Syndromes)17:4066665-4167142  ENSG00000185722
CONAN: Copy Number AnalysisANKFY1 
Mutations
ICGC Data PortalANKFY1 
TCGA Data PortalANKFY1 
Broad Tumor PortalANKFY1
OASIS PortalANKFY1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICANKFY1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDANKFY1
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 ANKFY1
DgiDB (Drug Gene Interaction Database)ANKFY1
DoCM (Curated mutations)ANKFY1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ANKFY1 (select a term)
intoGenANKFY1
Cancer3DANKFY1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607927   
Orphanet
MedgenANKFY1
Genetic Testing Registry ANKFY1
NextProtQ9P2R3 [Medical]
TSGene51479
GENETestsANKFY1
Huge Navigator ANKFY1 [HugePedia]
snp3D : Map Gene to Disease51479
BioCentury BCIQANKFY1
ClinGenANKFY1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD51479
Chemical/Pharm GKB GenePA134984226
Clinical trialANKFY1
Miscellaneous
canSAR (ICR)ANKFY1 (select the gene name)
Probes
Litterature
PubMed30 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineANKFY1
EVEXANKFY1
GoPubMedANKFY1
iHOPANKFY1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Mar 30 14:52:23 CEST 2017

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