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RUFY1 (RUN and FYVE domain containing 1)

Identity

Alias (NCBI)RABIP4
ZFYVE12
HGNC (Hugo) RUFY1
HGNC Alias symbFLJ22251
ZFYVE12
RABIP4
LocusID (NCBI) 80230
Atlas_Id 57849
Location 5q35.3  [Link to chromosome band 5q35]
Location_base_pair Starts at 179550554 and ends at 179610012 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)
FOXP1 (3p13)::RUFY1 (5q35.3)LIMK2 (22q12.2)::RUFY1 (5q35.3)RRBP1 (20p12.1)::RUFY1 (5q35.3)
RUFY1 (5q35.3)::GLUL (1q25.3)

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)RUFY1   19760
Cards
Entrez_Gene (NCBI)RUFY1    RUN and FYVE domain containing 1
AliasesRABIP4; ZFYVE12
GeneCards (Weizmann)RUFY1
Ensembl hg19 (Hinxton)ENSG00000176783 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000176783 [Gene_View]  ENSG00000176783 [Sequence]  chr5:179550554-179610012 [Contig_View]  RUFY1 [Vega]
ICGC DataPortalENSG00000176783
TCGA cBioPortalRUFY1
AceView (NCBI)RUFY1
Genatlas (Paris)RUFY1
SOURCE (Princeton)RUFY1
Genetics Home Reference (NIH)RUFY1
Genomic and cartography
GoldenPath hg38 (UCSC)RUFY1  -     chr5:179550554-179610012 +  5q35.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)RUFY1  -     5q35.3   [Description]    (hg19-Feb_2009)
GoldenPathRUFY1 - 5q35.3 [CytoView hg19]  RUFY1 - 5q35.3 [CytoView hg38]
ImmunoBaseENSG00000176783
Genome Data Viewer NCBIRUFY1 [Mapview hg19]  
OMIM610327   
Gene and transcription
Genbank (Entrez)AB209507 AF312367 AF361055 AK025904 AK075021
RefSeq transcript (Entrez)NM_001040451 NM_001040452 NM_025158
Consensus coding sequences : CCDS (NCBI)RUFY1
Gene ExpressionRUFY1 [ NCBI-GEO ]   RUFY1 [ EBI - ARRAY_EXPRESS ]   RUFY1 [ SEEK ]   RUFY1 [ MEM ]
Gene Expression Viewer (FireBrowse)RUFY1 [ Firebrowse - Broad ]
GenevisibleExpression of RUFY1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)80230
GTEX Portal (Tissue expression)RUFY1
Human Protein AtlasENSG00000176783-RUFY1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96T51   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96T51  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96T51
PhosPhoSitePlusQ96T51
Domaine pattern : Prosite (Expaxy)RUN (PS50826)    ZF_FYVE (PS50178)   
Domains : Interpro (EBI)Run_dom    Run_dom_sf    Znf_FYVE    Znf_FYVE-rel    Znf_FYVE_PHD    Znf_RING    Znf_RING/FYVE/PHD   
Domain families : Pfam (Sanger)FYVE (PF01363)    RUN (PF02759)   
Domain families : Pfam (NCBI)pfam01363    pfam02759   
Domain families : Smart (EMBL)FYVE (SM00064)  RUN (SM00593)  
Conserved Domain (NCBI)RUFY1
PDB (RSDB)2YQM    2YW8   
PDB Europe2YQM    2YW8   
PDB (PDBSum)2YQM    2YW8   
PDB (IMB)2YQM    2YW8   
Structural Biology KnowledgeBase2YQM    2YW8   
SCOP (Structural Classification of Proteins)2YQM    2YW8   
CATH (Classification of proteins structures)2YQM    2YW8   
SuperfamilyQ96T51
AlphaFold pdb e-kbQ96T51   
Human Protein Atlas [tissue]ENSG00000176783-RUFY1 [tissue]
Protein Interaction databases
DIP (DOE-UCLA)Q96T51
IntAct (EBI)Q96T51
BioGRIDRUFY1
STRING (EMBL)RUFY1
ZODIACRUFY1
Ontologies - Pathways
QuickGOQ96T51
Ontology : AmiGOprotein binding  cytoplasm  endosome  cytosol  cytosol  phosphatidylinositol biosynthetic process  endocytosis  small GTPase mediated signal transduction  lipid binding  protein transport  nuclear speck  SH3 domain binding  regulation of endocytosis  regulation of endocytosis  early endosome membrane  SH2 domain binding  intracellular membrane-bounded organelle  intracellular membrane-bounded organelle  metal ion binding  
Ontology : EGO-EBIprotein binding  cytoplasm  endosome  cytosol  cytosol  phosphatidylinositol biosynthetic process  endocytosis  small GTPase mediated signal transduction  lipid binding  protein transport  nuclear speck  SH3 domain binding  regulation of endocytosis  regulation of endocytosis  early endosome membrane  SH2 domain binding  intracellular membrane-bounded organelle  intracellular membrane-bounded organelle  metal ion binding  
Pathways : KEGGEndocytosis   
NDEx NetworkRUFY1
Atlas of Cancer Signalling NetworkRUFY1
Wikipedia pathwaysRUFY1
Orthology - Evolution
OrthoDB80230
GeneTree (enSembl)ENSG00000176783
Phylogenetic Trees/Animal Genes : TreeFamRUFY1
Homologs : HomoloGeneRUFY1
Homology/Alignments : Family Browser (UCSC)RUFY1
Gene fusions - Rearrangements
Fusion : QuiverRUFY1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerRUFY1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RUFY1
dbVarRUFY1
ClinVarRUFY1
MonarchRUFY1
1000_GenomesRUFY1 
Exome Variant ServerRUFY1
GNOMAD BrowserENSG00000176783
Varsome BrowserRUFY1
ACMGRUFY1 variants
VarityQ96T51
Genomic Variants (DGV)RUFY1 [DGVbeta]
DECIPHERRUFY1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisRUFY1 
Mutations
ICGC Data PortalRUFY1 
TCGA Data PortalRUFY1 
Broad Tumor PortalRUFY1
OASIS PortalRUFY1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICRUFY1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DRUFY1
Mutations and Diseases : HGMDRUFY1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaRUFY1
DgiDB (Drug Gene Interaction Database)RUFY1
DoCM (Curated mutations)RUFY1
CIViC (Clinical Interpretations of Variants in Cancer)RUFY1
Cancer3DRUFY1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM610327   
Orphanet
DisGeNETRUFY1
MedgenRUFY1
Genetic Testing Registry RUFY1
NextProtQ96T51 [Medical]
GENETestsRUFY1
Target ValidationRUFY1
Huge Navigator RUFY1 [HugePedia]
ClinGenRUFY1
Clinical trials, drugs, therapy
MyCancerGenomeRUFY1
Protein Interactions : CTDRUFY1
Pharm GKB GenePA134944787
PharosQ96T51
Clinical trialRUFY1
Miscellaneous
canSAR (ICR)RUFY1
HarmonizomeRUFY1
ARCHS4RUFY1
DataMed IndexRUFY1
Probes
Litterature
PubMed37 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXRUFY1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sun Jan 16 18:32:08 CET 2022

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