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

    Gene ID: 10938, updated on 10-Dec-2024

    Summary

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    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
    mouse all
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    Genomic context

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    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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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 Apr 4 07:08:55 2018

    Bibliography

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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. EHD1 impaired decidualization of endometrial stromal cells in recurrent implantation failure: role of SENP1 in modulating progesterone receptor signallingdagger.
      Title: EHD1 impaired decidualization of endometrial stromal cells in recurrent implantation failure: role of SENP1 in modulating progesterone receptor signalling†.
    2. EHD1-dependent traffic of IGF-1 receptor to the cell surface is essential for Ewing sarcoma tumorigenesis and metastasis.
      Title: EHD1-dependent traffic of IGF-1 receptor to the cell surface is essential for Ewing sarcoma tumorigenesis and metastasis.
    3. EHD1 promotes CP110 ubiquitination by centriolar satellite delivery of HERC2 to the mother centriole.
      Title: EHD1 promotes CP110 ubiquitination by centriolar satellite delivery of HERC2 to the mother centriole.
    4. EHD1 promotes the cancer stem cell (CSC)-like traits of glioma cells via interacting with CD44 and suppressing CD44 degradation.
      Title: EHD1 promotes the cancer stem cell (CSC)-like traits of glioma cells via interacting with CD44 and suppressing CD44 degradation.
    5. A Founder Mutation in EHD1 Presents with Tubular Proteinuria and Deafness.
      Title: A Founder Mutation in EHD1 Presents with Tubular Proteinuria and Deafness.
    6. A feedback circuit comprising EHD1 and 14-3-3zeta sustains beta-catenin/c-Myc-mediated aerobic glycolysis and proliferation in non-small cell lung cancer.
      Title: A feedback circuit comprising EHD1 and 14-3-3ζ sustains β-catenin/c-Myc-mediated aerobic glycolysis and proliferation in non-small cell lung cancer.
    7. Identification of phostensin in association with Eps 15 homology domain-containing protein 1 (EHD1) and EHD4.
      Title: Identification of phostensin in association with Eps 15 homology domain-containing protein 1 (EHD1) and EHD4.
    8. EHD1 Modulates Cx43 Gap Junction Remodeling Associated With Cardiac Diseases.
      Title: EHD1 Modulates Cx43 Gap Junction Remodeling Associated With Cardiac Diseases.
    9. Eps15 Homology Domain Protein 4 (EHD4) is required for Eps15 Homology Domain Protein 1 (EHD1)-mediated endosomal recruitment and fission.
      Title: Eps15 Homology Domain Protein 4 (EHD4) is required for Eps15 Homology Domain Protein 1 (EHD1)-mediated endosomal recruitment and fission.
    10. RUSC2 and EHD1 function in a common pathway to positively regulate the basal traffic of Epidermal growth factor receptor from the Golgi compartment to the cell surface to ensure optimal surface receptor levels for subsequent ligand-mediated activation and cellular responses.
      Title: EHD1 and RUSC2 Control Basal Epidermal Growth Factor Receptor Cell Surface Expression and Recycling.
    Submit: New GeneRIF Correction See all GeneRIFs (42)

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    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

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    Preferred Names
    EH domain-containing protein 1
    Names
    PAST homolog 1
    testilin

    NCBI Reference Sequences (RefSeq)

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    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_001282444.2 → NP_001269373.1  EH domain-containing protein 1 isoform 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:438 → 531
      EH; Eps15 homology domain
      cd09913
      Location:60 → 300
      EHD; Eps15 homology domain (EHD), C-terminal domain
      pfam16880
      Location:24 → 56
      EHD_N; N-terminal EH-domain containing protein
      pfam18150
      Location:288 → 394
      DUF5600; Domain of unknown function (DUF5600)

    2. NM_001282445.2 → NP_001269374.1  EH domain-containing protein 1 isoform 2

      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:452 → 545
      EH; Eps15 homology domain
      cd09913
      Location:74 → 314
      EHD; Eps15 homology domain (EHD), C-terminal domain
      pfam16880
      Location:39 → 70
      EHD_N; N-terminal EH-domain containing protein

    3. NM_006795.4 → NP_006786.2  EH domain-containing protein 1 isoform 1

      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:438 → 531
      EH; Eps15 homology domain
      cd09913
      Location:60 → 300
      EHD; Eps15 homology domain (EHD), C-terminal domain
      pfam16880
      Location:24 → 56
      EHD_N; N-terminal EH-domain containing protein
      pfam18150
      Location:288 → 394
      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)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H4M9.2 GenPept UniProtKB/Swiss-Prot:Q9H4M9

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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