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

    Gene ID: 30845, updated on 28-Oct-2024

    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; AllianceGenome:HGNC:3244
    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
    Summary
    Predicted to enable nucleic acid binding activity. Involved in several processes, including cytosolic transport; endocytic recycling; and protein homooligomerization. Acts upstream of or within protein localization to plasma membrane and regulation of cardiac muscle cell membrane potential. Located in ciliary pocket membrane and recycling endosome membrane. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Broad expression in brain (RPKM 25.4), esophagus (RPKM 14.7) and 17 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See EHD3 in Genome Data Viewer
    Location:
    2p23.1
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (31234152..31269451)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (31278316..31313593)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (31457018..31492317)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985861 Neighboring gene calpain 14 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:31437004-31437504 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:31437505-31438005 Neighboring gene RNA, 5S ribosomal pseudogene 90 Neighboring gene uncharacterized LOC124905983 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15549 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15550 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15551 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:31479073-31479900 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15552 Neighboring gene uncharacterized LOC124907751 Neighboring gene ribosomal protein L21 pseudogene 70

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

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

    NEW Try the new Transcript table

    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_014600.3NP_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, AL121657, BC033100, DA196836
      Consensus CDS
      CCDS1774.1
      UniProtKB/Swiss-Prot
      B4DFR5, D6W574, Q8N514, Q9NZB3, Q9NZN3
      Related
      ENSP00000327116.5, ENST00000322054.10
      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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      31234152..31269451
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011532806.3XP_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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      31278316..31313593
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054341639.1XP_054197614.1  EH domain-containing protein 3 isoform X1