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    EHD1 EH domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 10938, updated on 2-Nov-2024

    Summary

    Official Symbol
    EHD1provided by HGNC
    Official Full Name
    EH domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:3242
    See related
    Ensembl:ENSG00000110047 MIM:605888; AllianceGenome:HGNC:3242
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PAST; PAST1; H-PAST; HPAST1
    Summary
    This gene belongs to a highly conserved gene family encoding EPS15 homology (EH) domain-containing proteins. The protein-binding EH domain was first noted in EPS15, a substrate for the epidermal growth factor receptor. The EH domain has been shown to be an important motif in proteins involved in protein-protein interactions and in intracellular sorting. The protein encoded by this gene is thought to play a role in the endocytosis of IGF1 receptors. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2013]
    Expression
    Broad expression in bone marrow (RPKM 39.6), testis (RPKM 32.1) and 24 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See EHD1 in Genome Data Viewer
    Location:
    11q13.1
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (64851642..64879693, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (64844974..64872935, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (64619114..64647165, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene menin 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4918 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:64594480-64594980 Neighboring gene CDC42 binding protein kinase gamma Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:64609163-64609975 Neighboring gene Sharpr-MPRA regulatory region 8286 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:64610788-64611600 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3492 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3493 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3494 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3495 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4919 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4920 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4921 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:64620804-64621802 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:64622049-64623248 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4923 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4924 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4925 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:64630869-64631680 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4926 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4927 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4928 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:64641208-64641398 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:64644230-64645006 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3499 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3498 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4930 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4931 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4932 Neighboring gene microRNA 10392 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:64650863-64651364 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:64654864-64655434 Neighboring gene ribosomal protein S16 pseudogene 6 Neighboring gene MIR194-2 host gene Neighboring gene microRNA 192

    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?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ42622, FLJ44618

    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 cadherin binding HDA PubMed 
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables small GTPase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in cellular response to nerve growth factor stimulus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cholesterol homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    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 endocytic recycling IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in endocytic recycling IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in endocytic recycling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in endocytosis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in endocytosis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in intracellular protein transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in low-density lipoprotein particle clearance ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in neuron projection development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of cholesterol storage ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of endocytic recycling ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of myoblast fusion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of neuron projection development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein homooligomerization IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    involved_in protein localization to cilium IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein localization to plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    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
     
    is_active_in early endosome IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in early endosome membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in endocytic vesicle IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in endosome membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in endosome membrane TAS
    Traceable Author Statement
    more info
     
    located_in extracellular exosome HDA PubMed 
    located_in glutamatergic synapse IEA
    Inferred from Electronic Annotation
    more info
     
    located_in lipid droplet ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in membrane HDA 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
     
    located_in plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in platelet dense tubular network membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in presynaptic active zone IEA
    Inferred from Electronic Annotation
    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 1
    Names
    PAST homolog 1
    testilin

    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_001282444.2NP_001269373.1  EH domain-containing protein 1 isoform 1

      See identical proteins and their annotated locations for NP_001269373.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the predominant isoform (1).
      Source sequence(s)
      AP001187, KF455404
      Consensus CDS
      CCDS8084.1
      UniProtKB/Swiss-Prot
      O14611, Q2M3Q4, Q9H4M9, Q9UNR3
      UniProtKB/TrEMBL
      B2R5U3, B4DTR4
      Related
      ENSP00000352354.2, ENST00000359393.6
      Conserved Domains (4) summary
      smart00027
      Location:438531
      EH; Eps15 homology domain
      cd09913
      Location:60300
      EHD; Eps15 homology domain (EHD), C-terminal domain
      pfam16880
      Location:2456
      EHD_N; N-terminal EH-domain containing protein
      pfam18150
      Location:288394
      DUF5600; Domain of unknown function (DUF5600)
    2. NM_001282445.2NP_001269374.1  EH domain-containing protein 1 isoform 2

      See identical proteins and their annotated locations for NP_001269374.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an internal exon in the 5' region, which results in an upstream in-frame AUG start codon, compared to variant 1. The resulting isoform (2) has a longer N-terminus, compared to isoform 1.
      Source sequence(s)
      AP001187, KF455404
      Consensus CDS
      CCDS73315.1
      UniProtKB/TrEMBL
      A0A024R571, B4DTR4
      Related
      ENSP00000479153.1, ENST00000621096.4
      Conserved Domains (3) summary
      smart00027
      Location:452545
      EH; Eps15 homology domain
      cd09913
      Location:74314
      EHD; Eps15 homology domain (EHD), C-terminal domain
      pfam16880
      Location:3970
      EHD_N; N-terminal EH-domain containing protein
    3. NM_006795.4NP_006786.2  EH domain-containing protein 1 isoform 1

      See identical proteins and their annotated locations for NP_006786.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and encodes the same isoform (1), compared to variant 1.
      Source sequence(s)
      AP001187, KF455404
      Consensus CDS
      CCDS8084.1
      UniProtKB/Swiss-Prot
      O14611, Q2M3Q4, Q9H4M9, Q9UNR3
      UniProtKB/TrEMBL
      B2R5U3, B4DTR4
      Related
      ENSP00000320516.3, ENST00000320631.8
      Conserved Domains (4) summary
      smart00027
      Location:438531
      EH; Eps15 homology domain
      cd09913
      Location:60300
      EHD; Eps15 homology domain (EHD), C-terminal domain
      pfam16880
      Location:2456
      EHD_N; N-terminal EH-domain containing protein
      pfam18150
      Location:288394
      DUF5600; Domain of unknown function (DUF5600)

    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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      64851642..64879693 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      64844974..64872935 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)