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FLASH GENE
Symbol EHD1 contributors: mct/npt/pgu - updated : 09-12-2015
HGNC name EH-domain containing 1
HGNC id 3242
Location 11q13.1      Physical location : 64.620.207 - 64.646.191
Synonym name
  • testilin
  • PAST homolog 1
  • Synonym symbol(s) PAST1, PAST, HPAST1, FLJ42622, FLJ44618
    DNA
    TYPE anonymous DNA segment
    STRUCTURE 25.98 kb     5 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked   status confirmed
    Physical map
    RPS6KA4 11q11-q13 ribosomal protein S6 kinase, 90kDa, polypeptide 4 LOC387777 11 LOC387777 FLJ37045 11q13.1 hypothetical protein FLJ37045 SLC22A11 11q13.1 solute carrier family 22 (organic anion/cation transporter), member 11 SLC22A12 11q13.1 solute carrier family 22 (organic anion/cation transporter), member 12 NRXN2 11q13.2 neurexin 2 RASGRP2 11q13 RAS guanyl releasing protein 2 (calcium and DAG-regulated) PYGM 11q13.2 phosphorylase, glycogen; muscle (McArdle syndrome, glycogen storage disease type V) SF1 11q13.2 splicing factor 1 MAP4K2 11q13 mitogen-activated protein kinase kinase kinase kinase 2 MEN1 11q13.2 multiple endocrine neoplasia I HSMDPKIN 11q13 multiple endocrine neoplasia I EHD1 11q13 EH-domain containing 1 KIAA0404 11q13.3-q13.5 EH-domain containing 1 PPP2R5B 11q13 protein phosphatase 2, regulatory subunit B (B56), beta isoform GPHA2 11q13.1 glycoprotein hormone alpha 2 LOC283129 11q13.1 hypothetical protein LOC283129 LOC116071 11q13.1 hypothetical protein BC012330 SNX15 11q12 sorting nexin 15 ARL2 11q13 ADP-ribosylation factor-like 2 LOC390210 11 similar to Elongation factor 1-alpha 1 (EF-1-alpha-1) (Elongation factor 1 A-1) (eEF1A-1) (Elongation factor Tu) (EF-Tu) HSU79266 11q13.1 protein predicted by clone 23627 NAALADL1 11q12 N-acetylated alpha-linked acidic dipeptidase-like 1 LOC256676 11q13.1 hypothetical LOC256676 CDCA5 11q12.1 cell division cycle associated 5 ZFPL1 11q13 zinc finger protein-like 1 C11orf2 11q13 chromosome 11 open reading frame2 TM7SF2 11q13 transmembrane 7 superfamily member 2 C11orf5 11q13 chromosome 11 open reading frame 5 FAU 11q12-q13.1 Finkel-Biskis-Reilly murine sarcoma virus (FBR-MuSV) ubiquitously expressed (fox derived); ribosomal protein S30 MRPL49 11q13 mitochondrial ribosomal protein L49 HRD1 11q13 HRD1 protein
    RNA
    TRANSCRIPTS type messenger
    text smaller form, testis specific (PMID: 10395801)
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    5 - 3482 60.8 534 widely 2008 18661112
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Lymphoid/Immunelymph node   highly
     spleen   highly
    Nervousbrain   highly
    Reproductivefemale systemplacenta  highly
     male systemtestis  highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal   Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • an N-terminal ATPase domain
  • a highly conserved ATP/GTP binding domain
  • a central coiled-coil structure
  • a EPS15 (EH) domain including an EF hand-Ca2 binding motif at the C terminus, involved in targeting EPS15 into clathrin-coated pits,
  • a C-terminal nucleotide-binding motif
  • a central coiled-coil involved in oligomerization
  • C-terminal EH domain binding to proteins containing either an Asn-Pro-Phe or Asp-Pro-Phe motif, and playing an important role in the subcellular localization and function
  • conjugated PhosphoP
    HOMOLOGY
    interspecies homolog to murine Dres134 (expressed in embryonic CNS,PNS,retina and gut,testilin)
    homolog to Drosophila past testilin
    ortholog to murine Ehd1
    intraspecies paralog to EHD3, EHD2, EHD4
    Homologene
    FAMILY
  • EPS15 homology (EH) domain family
  • C-terminal Eps15 homology domain (EH) containing protein family
  • CATEGORY transport
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,organelle,endosome
    intracellular,cytoplasm,cytosolic,vesicle
    intracellular,cytoplasm,cytoskeleton,microtubule
    text
  • EHD1 and EHD3 localize to preciliary membranes and the ciliary pocket
  • basic FUNCTION
  • potentially participating as a down-regulator, in clathrin-coated pit-mediated endocytosis of IGF1 receptor after binding to its ligand
  • implicated in the recycling of internalized proteins to the plasma membrane
  • ZFYVE20 and EHD1 may act sequentially in the transport of proteins from early endosomes to the endosomal recycling compartment and back to the plasma membrane
  • regulate the exit of cargo from the recycling endosome
  • colocalize with vesicular and tubular structures, implying roles in transport processes and cytoskeletal dynamics and interact with specific phospholipids
  • also potentially involved in signal transduction pathways, downstream of receptor tyrosine kinases
  • functions in the recycling of membrane proteins from recycling endosomes to plasma membrane
  • play a critical role in the recycling of plasma membrane receptors (i.e., transferrin) that are internalized either through clathrin-coated pits or independently of clathrin
  • may impact the storage of esterified cholesterol in the organelles (lipid droplets)
  • phosphorylation occuring between early endosomes and endocytic recycling compartment
  • may be playing a role in the endocytosis of IGF1 receptors
  • plays an important role in regulating beta1 integrin transport, and required in integrin-mediated downstream functions
  • key regulator of endocytosis and associates with tubular membranes to facilitate recycling
  • affects the coupling of synaptotagmin-1 to the SNARE complex, and could be a negative regulator of exocytosis
  • synaptic protein that negatively affects exocytosis through binding to SNAPIN
  • regulates the trafficking of multiple receptors from the endocytic recycling compartment (ERC) to the plasma membrane
  • role for EHD1 in regulating the trafficking of CD59, an endogenous GPI-AP, at early stages of trafficking through the endocytic pathway
  • functions in the recycling endosome and is required for endosome-to-plasma membrane transport of multiple cargos
  • in neurons, EHD1 functions in early endosomes rather than (or possibly in addition to) recycling endosomes
  • EHD proteins and ferlin proteins form discrete structures in myoblasts
  • enriched at synaptic release sites, suggesting a possible involvement in the trafficking of synaptic vesicles
  • PLA2G4A and EHD1 are involved in the vesiculation of CD59-containing endosomes
  • the functions of both EHD1 and EHD4 are primarily in tubular recycling endosomes (TREs) membrane vesiculation, whereas EHD3 is a membrane-tubulating protein
  • EHD1 and EHD3 reorganize the M-centriole and associated distal appendage vesicles (DAVs) before coordinated ciliary membrane and axoneme growth
  • EHD1 and EHD3 control traffic to the endocytic recycling compartment (ERC) and from the ERC to the plasma membrane, while EHD2 modulates internalization
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding, nucleotide,
  • ATP/GTP binding
  • ions Ca2+ binding
  • protein
  • interacting with SNAP29 and associating with the AP2 adaptor protein complex to initiate endocytic vesicle formation
  • interacting with EHD3
  • interacting with IGF1-R
  • interaction with Rab11 effector protein, Rab11-FIP2, suggesting that EHD1 regulates the transport of Rab11-FIP2-and Rab11-containing vesicles
  • interacts with a synaptic protein, snapin
  • FER1L5 binds directly to the endocytic recycling proteins EHD1 and EHD2 and the second C2 domain in FER1L5 mediates this interaction
  • ANKFY1 is an interaction partner for the recycling regulatory protein EHD1
  • ARF35 regulates the formation of an EHD1-association site on ARF6-positive endosomes by integrating the functions of two distinct RAB35 effectors for successful neurite outgrowth
  • cell & other
    REGULATION
    Other ATP-binding is required for oligomerization
    ASSOCIATED DISORDERS
    ANIMAL & CELL MODELS