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

Gene ID: 10938, updated on 3-Nov-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
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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 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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Related articles in PubMed

  1. EHD1 impairs decidualization by regulating the Wnt4/β-catenin signaling pathway in recurrent implantation failure. Zhou Q, et al. EBioMedicine, 2019 Dec. PMID 31707150, Free PMC Article
  2. Structural insight into the interaction of proteins containing NPF, DPF, and GPF motifs with the C-terminal EH-domain of EHD1. Kieken F, et al. Protein Sci, 2009 Dec. PMID 19798736, Free PMC Article
  3. Eps15 homology domain 1-associated tubules contain phosphatidylinositol-4-phosphate and phosphatidylinositol-(4,5)-bisphosphate and are required for efficient recycling. Jović M, et al. Mol Biol Cell, 2009 Jun. PMID 19369419, Free PMC Article
  4. Molecular dynamics simulation of the interactions between EHD1 EH domain and multiple peptides. Yu H, et al. J Zhejiang Univ Sci B, 2015 Oct. PMID 26465136, Free PMC Article
  5. EHD1 confers resistance to cisplatin in non-small cell lung cancer by regulating intracellular cisplatin concentrations. Gao J, et al. BMC Cancer, 2016 Jul 13. PMID 27411790, Free PMC Article

See all (130) citations in PubMed

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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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

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)

Genotypes

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

    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: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

    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: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

    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: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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