ENSG00000013016


Homo sapiens

Features
Gene ID: ENSG00000013016
  
Biological name :EHD3
  
Synonyms : EHD3 / EH domain containing 3 / Q9NZN3
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 2
Strand: 1
Band: p23.1
Gene start: 31234337
Gene end: 31269447
  
Corresponding Affymetrix probe sets: 218935_at (Human Genome U133 Plus 2.0 Array)   230740_at (Human Genome U133 Plus 2.0 Array)   241267_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000327116
NCBI entrez gene - 30845     See in Manteia.
OMIM - 605891
RefSeq - NM_014600
RefSeq Peptide - NP_055415
swissprot - Q9NZN3
Ensembl - ENSG00000013016
  
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
 ehd3ENSDARG00000007869Danio rerio
 EHD3ENSGALG00000009086Gallus gallus
 Ehd3ENSMUSG00000024065Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
EHD1 / Q9H4M9 / EH domain containing 1ENSG0000011004787
EHD4 / Q9H223 / EH domain containing 4ENSG0000010396675
EHD2 / Q9NZN4 / EH domain containing 2ENSG0000002442272
SRL / Q86TD4 / sarcalumeninENSG0000018573925
ITSN1 / Q15811 / intersectin 1ENSG0000020572619
ITSN2 / Q9NZM3 / intersectin 2ENSG0000019839919
Q9UBC2 / EPS15L1 / epidermal growth factor receptor pathway substrate 15 like 1ENSG0000012752717
EPS15 / P42566 / epidermal growth factor receptor pathway substrate 15ENSG0000008583216
REPS1 / Q96D71 / RALBP1 associated Eps domain containing 1ENSG0000013559711
REPS2 / Q8NFH8 / RALBP1 associated Eps domain containing 2ENSG0000016989110


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:0001881 receptor recycling IMP
 biological_processGO:0007596 blood coagulation TAS
 biological_processGO:0015031 protein transport IEA
 biological_processGO:0030030 cell projection organization IEA
 biological_processGO:0032456 endocytic recycling IDA
 biological_processGO:0034498 early endosome to Golgi transport IMP
 biological_processGO:0051260 protein homooligomerization IPI
 biological_processGO:0055117 regulation of cardiac muscle contraction IEA
 biological_processGO:0060271 cilium assembly IEA
 biological_processGO:0072659 protein localization to plasma membrane IGI
 biological_processGO:0086036 regulation of cardiac muscle cell membrane potential IGI
 biological_processGO:0090160 Golgi to lysosome transport IMP
 biological_processGO:1901387 positive regulation of voltage-gated calcium channel activity IEA
 biological_processGO:1903358 regulation of Golgi organization IMP
 biological_processGO:1903779 regulation of cardiac conduction IEA
 cellular_componentGO:0005634 nucleus TAS
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005768 endosome IEA
 cellular_componentGO:0005829 cytosol IEA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0005925 focal adhesion HDA
 cellular_componentGO:0005929 cilium IEA
 cellular_componentGO:0010008 endosome membrane TAS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0020018 ciliary pocket membrane IDA
 cellular_componentGO:0030139 endocytic vesicle 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
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0003676 nucleic acid binding TAS
 molecular_functionGO:0005509 calcium ion binding IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0005525 GTP binding IEA
 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  / complex / reaction






 

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