ENSG00000110047


Homo sapiens

Features
Gene ID: ENSG00000110047
  
Biological name :EHD1
  
Synonyms : EHD1 / EH domain containing 1 / Q9H4M9
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 11
Strand: -1
Band: q13.1
Gene start: 64851642
Gene end: 64888296
  
Corresponding Affymetrix probe sets: 208112_x_at (Human Genome U133 Plus 2.0 Array)   209037_s_at (Human Genome U133 Plus 2.0 Array)   209038_s_at (Human Genome U133 Plus 2.0 Array)   209039_x_at (Human Genome U133 Plus 2.0 Array)   222221_x_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000320516
Ensembl peptide - ENSP00000479153
Ensembl peptide - ENSP00000404944
Ensembl peptide - ENSP00000403830
Ensembl peptide - ENSP00000399022
Ensembl peptide - ENSP00000396273
Ensembl peptide - ENSP00000391429
Ensembl peptide - ENSP00000352354
NCBI entrez gene - 10938     See in Manteia.
OMIM - 605888
RefSeq - XM_011544739
RefSeq - NM_001282444
RefSeq - NM_001282445
RefSeq - NM_006795
RefSeq Peptide - NP_006786
RefSeq Peptide - NP_001269373
RefSeq Peptide - NP_001269374
swissprot - Q9H4M9
swissprot - C9JIJ3
swissprot - C9JC03
swissprot - C9J2Z4
swissprot - B2R5U3
swissprot - C9IZH1
swissprot - A0A024R571
swissprot - C9JDQ8
Ensembl - ENSG00000110047
  
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 ehd1aENSDARG00000098853Danio rerio
 ehd1bENSDARG00000014793Danio rerio
 Ehd1ENSMUSG00000024772Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
EHD3 / Q9NZN3 / EH domain containing 3ENSG0000001301684
EHD4 / Q9H223 / EH domain containing 4ENSG0000010396673
EHD2 / Q9NZN4 / EH domain containing 2ENSG0000002442270
SRL / Q86TD4 / sarcalumeninENSG0000018573924
ITSN1 / Q15811 / intersectin 1ENSG0000020572617
ITSN2 / Q9NZM3 / intersectin 2ENSG0000019839917
Q9UBC2 / EPS15L1 / epidermal growth factor receptor pathway substrate 15 like 1ENSG0000012752716
EPS15 / P42566 / epidermal growth factor receptor pathway substrate 15ENSG0000008583215
REPS1 / Q96D71 / RALBP1 associated Eps domain containing 1ENSG0000013559710
REPS2 / Q8NFH8 / RALBP1 associated Eps domain containing 2ENSG000001698918


Protein motifs (from Interpro)
Interpro ID Name
 IPR000261  EH domain
 IPR002048  EF-hand domain
 IPR011992  EF-hand domain pair
 IPR018247  EF-Hand 1, calcium-binding site
 IPR022812  Dynamin superfamily
 IPR027417  P-loop containing nucleoside triphosphate hydrolase
 IPR030381  Dynamin-type guanine nucleotide-binding (G) domain
 IPR031692  EH domain-containing protein, N-terminal


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006886 intracellular protein transport IMP
 biological_processGO:0006897 endocytosis IEA
 biological_processGO:0007596 blood coagulation TAS
 biological_processGO:0010886 positive regulation of cholesterol storage IEA
 biological_processGO:0010976 positive regulation of neuron projection development IEA
 biological_processGO:0015031 protein transport IEA
 biological_processGO:0016197 endosomal transport IEA
 biological_processGO:0030030 cell projection organization IEA
 biological_processGO:0031175 neuron projection development IEA
 biological_processGO:0032456 endocytic recycling IMP
 biological_processGO:0034383 low-density lipoprotein particle clearance IEA
 biological_processGO:0042632 cholesterol homeostasis IEA
 biological_processGO:0051260 protein homooligomerization IPI
 biological_processGO:0060271 cilium assembly IEA
 biological_processGO:0061512 protein localization to cilium IMP
 biological_processGO:1901741 positive regulation of myoblast fusion IEA
 biological_processGO:1990090 cellular response to nerve growth factor stimulus IEA
 biological_processGO:2001137 positive regulation of endocytic recycling IEA
 cellular_componentGO:0005768 endosome IEA
 cellular_componentGO:0005769 early endosome IEA
 cellular_componentGO:0005811 lipid droplet IEA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0005929 cilium IEA
 cellular_componentGO:0010008 endosome membrane IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0020018 ciliary pocket membrane IDA
 cellular_componentGO:0030139 endocytic vesicle IEA
 cellular_componentGO:0031095 platelet dense tubular network membrane IEA
 cellular_componentGO:0031901 early endosome membrane IEA
 cellular_componentGO:0042995 cell projection IEA
 cellular_componentGO:0043209 myelin sheath IEA
 cellular_componentGO:0048471 perinuclear region of cytoplasm IEA
 cellular_componentGO:0055038 recycling endosome membrane IEA
 cellular_componentGO:0060170 ciliary membrane IEA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0005509 calcium ion binding IEA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0005525 GTP binding IEA
 molecular_functionGO:0017137 Rab GTPase binding IPI
 molecular_functionGO:0042802 identical protein binding IPI
 molecular_functionGO:0045296 cadherin binding IDA
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
Factors involved in megakaryocyte development and platelet production


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
No match
  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000131381 RBSN / Q9H1K0 / rabenosyn, RAB effector  / reaction / complex






 

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