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    EHD3 EH domain containing 3 [ Homo sapiens (human) ]

    Gene ID: 30845, updated on 5-Aug-2018

    Summary

    Official Symbol
    EHD3provided by HGNC
    Official Full Name
    EH domain containing 3provided by HGNC
    Primary source
    HGNC:HGNC:3244
    See related
    Ensembl:ENSG00000013016 MIM:605891; Vega:OTTHUMG00000099365
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PAST3
    Expression
    Broad expression in brain (RPKM 25.4), esophagus (RPKM 14.7) and 17 other tissues See more
    Orthologs

    Genomic context

    See EHD3 in Genome Data Viewer
    Location:
    2p23.1
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (31234014..31269451)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (31456880..31491260)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985861 Neighboring gene calpain 14 Neighboring gene RNA, 5S ribosomal pseudogene 90 Neighboring gene ribosomal protein L21 pseudogene 70 Neighboring gene xanthine dehydrogenase

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

    Description
    A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects.
    NHGRI GWA Catalog
    A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium.
    NHGRI GWA Catalog
    Genome-wide association study of circulating estradiol, testosterone, and sex hormone-binding globulin in postmenopausal women.
    NHGRI GWA Catalog
    New gene functions in megakaryopoiesis and platelet formation.
    NHGRI GWA Catalog

    Pathways from BioSystems

    • Endocytosis, organism-specific biosystem (from KEGG)
      Endocytosis, organism-specific biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
    • Endocytosis, conserved biosystem (from KEGG)
      Endocytosis, conserved biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
    • Factors involved in megakaryocyte development and platelet production, organism-specific biosystem (from REACTOME)
      Factors involved in megakaryocyte development and platelet production, organism-specific biosystemMegakaryocytes (MKs) give rise to circulating platelets (thrombocytes) through terminal differentiation of MKs which release cytoplasmic fragments as circulating platelets. As MKs mature they underg...
    • Hemostasis, organism-specific biosystem (from REACTOME)
      Hemostasis, organism-specific biosystemHemostasis is a physiological response that culminates in the arrest of bleeding from an injured vessel. Under normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhe...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    GTP binding IEA
    Inferred from Electronic Annotation
    more info
     
    calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    nucleic acid binding TAS
    Traceable Author Statement
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    Golgi to lysosome transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    blood coagulation TAS
    Traceable Author Statement
    more info
     
    cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    early endosome to Golgi transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    endocytic recycling IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of voltage-gated calcium channel activity IEA
    Inferred from Electronic Annotation
    more info
     
    protein homooligomerization IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein localization to plasma membrane IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    protein transport IEA
    Inferred from Electronic Annotation
    more info
     
    receptor recycling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of Golgi organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of cardiac conduction IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of cardiac muscle cell membrane potential IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    regulation of cardiac muscle contraction IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    ciliary pocket membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cytosol IEA
    Inferred from Electronic Annotation
    more info
     
    endocytic vesicle IEA
    Inferred from Electronic Annotation
    more info
     
    endosome membrane TAS
    Traceable Author Statement
    more info
     
    focal adhesion HDA PubMed 
    myelin sheath IEA
    Inferred from Electronic Annotation
    more info
     
    nucleus TAS
    Traceable Author Statement
    more info
    PubMed 
    perinuclear region of cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    recycling endosome membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    EH domain-containing protein 3
    Names
    PAST homolog 3

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_014600.2NP_055415.1  EH domain-containing protein 3

      See identical proteins and their annotated locations for NP_055415.1

      Status: VALIDATED

      Source sequence(s)
      AF214736, AK316006, BC033100, DA196836
      Consensus CDS
      CCDS1774.1
      UniProtKB/Swiss-Prot
      Q9NZN3
      Related
      ENSP00000327116.5, OTTHUMP00000125203, ENST00000322054.9, OTTHUMT00000216810
      Conserved Domains (4) summary
      smart00027
      Location:438531
      EH; Eps15 homology domain
      cd09913
      Location:60300
      EHD; Eps15 homology domain (EHD), C-terminal domain
      cd00052
      Location:448513
      EH; Eps15 homology domain; found in proteins implicated in endocytosis, vesicle transport, and signal transduction. The alignment contains a pair of EF-hand motifs, typically one of them is canonical and binds to Ca2+, while the other may not bind to Ca2+. A ...
      pfam16880
      Location:3756
      EHD_N; N-terminal EH-domain containing protein

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p12 Primary Assembly

      Range
      31234014..31269451
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011532806.2XP_011531108.1  EH domain-containing protein 3 isoform X1

      Conserved Domains (3) summary
      smart00027
      Location:225318
      EH; Eps15 homology domain
      cd00052
      Location:235300
      EH; Eps15 homology domain; found in proteins implicated in endocytosis, vesicle transport, and signal transduction. The alignment contains a pair of EF-hand motifs, typically one of them is canonical and binds to Ca2+, while the other may not bind to Ca2+. A ...
      cl21455
      Location:187
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
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