EHD1 Gene Summary [Human]

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]

Details

Type
Protein Coding
Official Symbol
EHD1
Official Name
EH domain containing 1 [Source:HGNC Symbol;Acc:HGNC:3242]
Ensembl ID
ENSG00000110047
Bio databases IDs NCBI: 10938 Ensembl: ENSG00000110047
Aliases EH domain containing 1, testilin
Synonyms EH-domain containing 1, H-PAST, HPAST1, Mpast1, PAST, PAST1, RGD1306960, RME-1
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human EHD1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • Domain of unknown function (DUF5600)
  • 50S ribosome-binding GTPase
  • enzyme binding
  • EFh
  • Eps15 homology domain
  • protein binding
  • GTP binding motif, P-loop
  • identical protein binding
  • N-terminal EH-domain containing protein
  • P-loop containing Nucleoside Triphosphate Hydrolases
  • Cytoskeletal-regulatory complex EF hand
  • Dynamin family

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • neoplasia
  • metastasis
  • Ewing sarcoma
  • experimental autoimmune encephalomyelitis
  • malocclusion
  • organismal death
  • anophthalmia
  • congenital malformation
  • microphthalmia
  • azoospermia
regulated by
  • YAP1
  • AHR
  • lipopolysaccharide
  • TGFB1
  • TNF
  • AZ-1
  • LRP1
  • peripheral blood neutrophils
  • adenosine triphosphate
  • tretinoin
regulates
role in cell
  • expression in
  • morphology
  • growth
  • quantity
  • proliferation
  • phosphorylation in
  • migration
  • apoptosis
  • formation
  • formation in

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Cytoplasm
  • myelin enriched fraction
  • glutaminergic synapse
  • cilia
  • perinuclear membrane
  • perinuclear region
  • cellular membrane
  • Nucleus
  • Plasma Membrane
  • endosomes
  • vesicles
  • lipid droplets
  • cytosol
  • endosomal membrane
  • synapse
  • early endosomes
  • endocytotic vesicle
  • microsomal membrane
  • exosomes

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human EHD1 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • low-density lipoprotein particle clearance
  • cilium morphogenesis
  • neuron projection development
  • protein homooligomerization
  • intracellular protein transport
  • endocytosis
  • cholesterol homeostasis
  • positive regulation of endocytic recycling
  • positive regulation of cholesterol storage
  • positive regulation of neuron projection development
  • protein localization in plasma membrane
  • endocytic recycling

Cellular Component

Where in the cell the gene product is active
  • platelet dense tubular network membrane
  • flagellar pocket membrane
  • plasma membrane
  • lipid particle
  • early endosome membrane
  • endocytic vesicle
  • early endosome
  • perinuclear region of cytoplasm
  • extracellular vesicular exosome
  • cytoplasm
  • membrane
  • endosome membrane
  • recycling endosome membrane

Molecular Function

What the gene product does at the molecular level
  • GTP binding
  • ATP binding
  • identical protein binding
  • protein binding
  • cadherin binding
  • calcium ion binding
  • small GTPase binding

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.