Atlas of Genetics and Cytogenetics in Oncology and Haematology

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EHD1 (EH domain containing 1)

Identity

Alias (NCBI)H-PAST
HPAST1
PAST
PAST1
HGNC (Hugo) EHD1
HGNC Alias symbH-PAST
HPAST1
FLJ42622
FLJ44618
HGNC Alias nametestilin
HGNC Previous namePAST1
LocusID (NCBI) 10938
Atlas_Id 54277
Location 11q13.1  [Link to chromosome band 11q13]
Location_base_pair Starts at 64851642 and ends at 64878621 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)
EHD1 (11q13.1) / ADRBK2 (22q12.1)EHD1 (11q13.1) / ATG2A (11q13.1)EHD1 (11q13.1) / BATF2 (11q13.1)
EHD1 (11q13.1) / RUVBL1 (3q21.3)SNHG1 (11q12.3) / EHD1 (11q13.1)ZFP36L1 (14q24.1) / EHD1 (11q13.1)
EHD1 11q13.1 / ADRBK2 22q12.1EHD1 11q13.1 / ATG2A 11q13.1EHD1 11q13.1 / BATF2 11q13.1

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

 

Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(11;14)(q13;q24) ZFP36L1/EHD1

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 2 ]
  EHD1/ATG2A (11q13)
EHD1/BATF2 (11q13)

External links

Nomenclature
HGNC (Hugo)EHD1   3242
Cards
Entrez_Gene (NCBI)EHD1    EH domain containing 1
AliasesH-PAST; HPAST1; PAST; PAST1
GeneCards (Weizmann)EHD1
Ensembl hg19 (Hinxton)ENSG00000110047 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000110047 [Gene_View]  ENSG00000110047 [Sequence]  chr11:64851642-64878621 [Contig_View]  EHD1 [Vega]
ICGC DataPortalENSG00000110047
TCGA cBioPortalEHD1
AceView (NCBI)EHD1
Genatlas (Paris)EHD1
SOURCE (Princeton)EHD1
Genetics Home Reference (NIH)EHD1
Genomic and cartography
GoldenPath hg38 (UCSC)EHD1  -     chr11:64851642-64878621 -  11q13.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)EHD1  -     11q13.1   [Description]    (hg19-Feb_2009)
GoldenPathEHD1 - 11q13.1 [CytoView hg19]  EHD1 - 11q13.1 [CytoView hg38]
ImmunoBaseENSG00000110047
genome Data Viewer NCBIEHD1 [Mapview hg19]  
OMIM605888   
Gene and transcription
Genbank (Entrez)AF001434 AF099011 AK096747 AK097842 AK098723
RefSeq transcript (Entrez)NM_001282444 NM_001282445 NM_006795
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)EHD1
Alternative Splicing GalleryENSG00000110047
Gene ExpressionEHD1 [ NCBI-GEO ]   EHD1 [ EBI - ARRAY_EXPRESS ]   EHD1 [ SEEK ]   EHD1 [ MEM ]
Gene Expression Viewer (FireBrowse)EHD1 [ Firebrowse - Broad ]
GenevisibleExpression of EHD1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10938
GTEX Portal (Tissue expression)EHD1
Human Protein AtlasENSG00000110047-EHD1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9H4M9   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9H4M9  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9H4M9
Splice isoforms : SwissVarQ9H4M9
PhosPhoSitePlusQ9H4M9
Domaine pattern : Prosite (Expaxy)EF_HAND_1 (PS00018)    EF_HAND_2 (PS50222)    EH (PS50031)    G_DYNAMIN_2 (PS51718)   
Domains : Interpro (EBI)DUF5600    Dynamin_SF    EF-hand-dom_pair    EF_Hand_1_Ca_BS    EF_hand_dom    EH_dom    EHD1/EHD3    EHD_N    G_DYNAMIN_dom    P-loop_NTPase   
Domain families : Pfam (Sanger)DUF5600 (PF18150)    Dynamin_N (PF00350)    EF-hand_4 (PF12763)    EHD_N (PF16880)   
Domain families : Pfam (NCBI)pfam18150    pfam00350    pfam12763    pfam16880   
Domain families : Smart (EMBL)EH (SM00027)  
Conserved Domain (NCBI)EHD1
Blocks (Seattle)EHD1
PDB (RSDB)2JQ6    2KFF    2KFG    2KFH    2KSP   
PDB Europe2JQ6    2KFF    2KFG    2KFH    2KSP   
PDB (PDBSum)2JQ6    2KFF    2KFG    2KFH    2KSP   
PDB (IMB)2JQ6    2KFF    2KFG    2KFH    2KSP   
Structural Biology KnowledgeBase2JQ6    2KFF    2KFG    2KFH    2KSP   
SCOP (Structural Classification of Proteins)2JQ6    2KFF    2KFG    2KFH    2KSP   
CATH (Classification of proteins structures)2JQ6    2KFF    2KFG    2KFH    2KSP   
SuperfamilyQ9H4M9
Human Protein Atlas [tissue]ENSG00000110047-EHD1 [tissue]
Peptide AtlasQ9H4M9
HPRD09325
IPIIPI00017184   IPI00657915   IPI00853165   IPI00984945   IPI00853038   IPI00852957   IPI00853100   
Protein Interaction databases
DIP (DOE-UCLA)Q9H4M9
IntAct (EBI)Q9H4M9
BioGRIDEHD1
STRING (EMBL)EHD1
ZODIACEHD1
Ontologies - Pathways
QuickGOQ9H4M9
Ontology : AmiGOcalcium ion binding  protein binding  ATP binding  GTP binding  cytoplasm  early endosome  lipid droplet  plasma membrane  plasma membrane  intracellular protein transport  endocytosis  endocytosis  blood coagulation  endosome membrane  endosome membrane  positive regulation of cholesterol storage  membrane  endosomal transport  Rab GTPase binding  ciliary pocket membrane  endocytic vesicle  platelet dense tubular network membrane  neuron projection development  early endosome membrane  endocytic recycling  endocytic recycling  endocytic recycling  low-density lipoprotein particle clearance  cholesterol homeostasis  identical protein binding  intracellular membrane-bounded organelle  cadherin binding  perinuclear region of cytoplasm  protein homooligomerization  recycling endosome membrane  recycling endosome membrane  cilium assembly  cilium assembly  protein localization to cilium  extracellular exosome  protein localization to plasma membrane  positive regulation of myoblast fusion  cellular response to nerve growth factor stimulus  positive regulation of endocytic recycling  
Ontology : EGO-EBIcalcium ion binding  protein binding  ATP binding  GTP binding  cytoplasm  early endosome  lipid droplet  plasma membrane  plasma membrane  intracellular protein transport  endocytosis  endocytosis  blood coagulation  endosome membrane  endosome membrane  positive regulation of cholesterol storage  membrane  endosomal transport  Rab GTPase binding  ciliary pocket membrane  endocytic vesicle  platelet dense tubular network membrane  neuron projection development  early endosome membrane  endocytic recycling  endocytic recycling  endocytic recycling  low-density lipoprotein particle clearance  cholesterol homeostasis  identical protein binding  intracellular membrane-bounded organelle  cadherin binding  perinuclear region of cytoplasm  protein homooligomerization  recycling endosome membrane  recycling endosome membrane  cilium assembly  cilium assembly  protein localization to cilium  extracellular exosome  protein localization to plasma membrane  positive regulation of myoblast fusion  cellular response to nerve growth factor stimulus  positive regulation of endocytic recycling  
Pathways : KEGGEndocytosis   
NDEx NetworkEHD1
Atlas of Cancer Signalling NetworkEHD1
Wikipedia pathwaysEHD1
Orthology - Evolution
OrthoDB10938
GeneTree (enSembl)ENSG00000110047
Phylogenetic Trees/Animal Genes : TreeFamEHD1
HOGENOMQ9H4M9
Homologs : HomoloGeneEHD1
Homology/Alignments : Family Browser (UCSC)EHD1
Gene fusions - Rearrangements
Fusion : MitelmanEHD1/ADRBK2 [11q13.1/22q12.1]  
Fusion : MitelmanEHD1/ATG2A [11q13.1/11q13.1]  
Fusion : MitelmanEHD1/BATF2 [11q13.1/11q13.1]  
Fusion : MitelmanZFP36L1/EHD1 [14q24.1/11q13.1]  
Fusion PortalEHD1 11q13.1 ADRBK2 22q12.1 LGG
Fusion PortalEHD1 11q13.1 ATG2A 11q13.1 OV
Fusion PortalEHD1 11q13.1 BATF2 11q13.1 LUAD
Fusion : QuiverEHD1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEHD1 [hg38]
dbVarEHD1
ClinVarEHD1
MonarchEHD1
1000_GenomesEHD1 
Exome Variant ServerEHD1
GNOMAD BrowserENSG00000110047
Varsome BrowserEHD1
Genomic Variants (DGV)EHD1 [DGVbeta]
DECIPHEREHD1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisEHD1 
Mutations
ICGC Data PortalEHD1 
TCGA Data PortalEHD1 
Broad Tumor PortalEHD1
OASIS PortalEHD1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICEHD1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DEHD1
Mutations and Diseases : HGMDEHD1
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 EHD1
DgiDB (Drug Gene Interaction Database)EHD1
DoCM (Curated mutations)EHD1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)EHD1 (select a term)
intoGenEHD1
Cancer3DEHD1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM605888   
Orphanet
DisGeNETEHD1
MedgenEHD1
Genetic Testing Registry EHD1
NextProtQ9H4M9 [Medical]
GENETestsEHD1
Target ValidationEHD1
Huge Navigator EHD1 [HugePedia]
ClinGenEHD1
Clinical trials, drugs, therapy
MyCancerGenomeEHD1
Protein Interactions : CTD
Pharm GKB GenePA27677
PharosQ9H4M9
Clinical trialEHD1
Miscellaneous
canSAR (ICR)EHD1 (select the gene name)
HarmonizomeEHD1
DataMed IndexEHD1
Probes
Litterature
PubMed89 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXEHD1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Jan 1 18:14:04 CET 2021
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