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

Gene ID: 10938, updated on 8-Feb-2015
Official Symbol
EHD1provided by HGNC
Official Full Name
EH-domain containing 1provided by HGNC
Primary source
HGNC:HGNC:3242
See related
Ensembl:ENSG00000110047; HPRD:09325; MIM:605888; Vega:OTTHUMG00000066832
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]
Orthologs
See EHD1 in MapViewer
Location:
11q13
Exon count:
7
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 11 NC_000011.10 (64852727..64879713, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (64620206..64647181, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene multiple endocrine neoplasia I Neighboring gene CDC42 binding protein kinase gamma (DMPK-like) Neighboring gene ribosomal protein S16 pseudogene 6 Neighboring gene putative uncharacterized protein FLJ38264-like

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • Endocytosis, organism-specific biosystem (from KEGG)
    Endocytosis, organism-specific biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
  • Endocytosis, conserved biosystem (from KEGG)
    Endocytosis, conserved biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
  • Factors involved in megakaryocyte development and platelet production, organism-specific biosystem (from REACTOME)
    Factors involved in megakaryocyte development and platelet production, organism-specific biosystemMegakaryocytes (MKs) give rise to circulating platelets (thrombocytes) through terminal differentiation of MKs which release cytoplasmic fragments as circulating platelets. As MKs mature they underg...
  • Hemostasis, organism-specific biosystem (from REACTOME)
    Hemostasis, organism-specific biosystemHemostasis is a physiological response that culminates in the arrest of bleeding from an injured vessel. Under normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhe...
  • Insulin Signaling, organism-specific biosystem (from WikiPathways)
    Insulin Signaling, organism-specific biosystemInsulin signaling influences energy metabolism as well as growth. The presence of insulin signals the fed state, and this signal is passed via the AKT branch, which leads to the uptake of glucose fro...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ42622, FLJ44618

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
GTP binding IEA
Inferred from Electronic Annotation
more info
 
Rab GTPase binding IPI
Inferred from Physical Interaction
more info
PubMed 
calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
blood coagulation TAS
Traceable Author Statement
more info
 
cellular response to nerve growth factor stimulus ISS
Inferred from Sequence or Structural Similarity
more info
 
cholesterol homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
 
endocytic recycling IGI
Inferred from Genetic Interaction
more info
PubMed 
endocytic recycling IMP
Inferred from Mutant Phenotype
more info
PubMed 
endocytosis IMP
Inferred from Mutant Phenotype
more info
PubMed 
intracellular protein transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
low-density lipoprotein particle clearance ISS
Inferred from Sequence or Structural Similarity
more info
 
neuron projection development ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of cholesterol storage ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of endocytic recycling ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of myoblast fusion ISS
Inferred from Sequence or Structural Similarity
more info
 
protein homooligomerization IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
early endosome membrane IDA
Inferred from Direct Assay
more info
PubMed 
endosome membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
endosome membrane TAS
Traceable Author Statement
more info
 
extracellular vesicular exosome IDA
Inferred from Direct Assay
more info
PubMed 
lipid particle ISS
Inferred from Sequence or Structural Similarity
more info
 
membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
platelet dense tubular network membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
recycling endosome membrane IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
EH domain-containing protein 1
Names
EH domain-containing protein 1
PAST homolog 1
testilin

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

    See proteins identical to NP_001269373.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the predominant isoform (1).
    Source sequence(s)
    AK097842, AP001187, BM677440, DC399803, KF455404
    Consensus CDS
    CCDS8084.1
    UniProtKB/TrEMBL
    B2R5U3
    UniProtKB/Swiss-Prot
    Q9H4M9
    Related
    ENSP00000352354, OTTHUMP00000069747, ENST00000359393, OTTHUMT00000143230
    Conserved Domains (3) summary
    smart00027
    Location:438531
    EH; Eps15 homology domain
    cd09913
    Location:60300
    EHD; Eps15 homology domain (EHD), C-terminal domain
    cd00052
    Location:448513
    EH; Eps15 homology domain; found in proteins implicated in endocytosis, vesicle transport, and signal transduction. The alignment contains a pair of EF-hand motifs, typically one of them is canonical and binds to Ca2+, while the other may not bind to Ca2+. A ...
  2. NM_001282445.1NP_001269374.1  EH domain-containing protein 1 isoform 2

    See proteins identical to 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, BC104799, BM677440, DC397966, DC399803, KF455404
    Consensus CDS
    CCDS73315.1
    UniProtKB/TrEMBL
    A0A024R571
    UniProtKB/Swiss-Prot
    Q9H4M9
    Related
    ENSP00000479153, ENST00000621096
    Conserved Domains (3) summary
    smart00027
    Location:452545
    EH; Eps15 homology domain
    cd09913
    Location:74314
    EHD; Eps15 homology domain (EHD), C-terminal domain
    cd00052
    Location:462527
    EH; Eps15 homology domain; found in proteins implicated in endocytosis, vesicle transport, and signal transduction. The alignment contains a pair of EF-hand motifs, typically one of them is canonical and binds to Ca2+, while the other may not bind to Ca2+. A ...
  3. NM_006795.3NP_006786.2  EH domain-containing protein 1 isoform 1

    See proteins identical to 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, BC104799, BM677440, DB093699, KF455404
    Consensus CDS
    CCDS8084.1
    UniProtKB/TrEMBL
    B2R5U3
    UniProtKB/Swiss-Prot
    Q9H4M9
    Conserved Domains (3) summary
    smart00027
    Location:438531
    EH; Eps15 homology domain
    cd09913
    Location:60300
    EHD; Eps15 homology domain (EHD), C-terminal domain
    cd00052
    Location:448513
    EH; Eps15 homology domain; found in proteins implicated in endocytosis, vesicle transport, and signal transduction. The alignment contains a pair of EF-hand motifs, typically one of them is canonical and binds to Ca2+, while the other may not bind to Ca2+. A ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38 Primary Assembly

    Range
    64852727..64879713
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006718424.1XP_006718487.1  

    See proteins identical to XP_006718487.1

    UniProtKB/TrEMBL
    B2R5U3
    UniProtKB/Swiss-Prot
    Q9H4M9
    Conserved Domains (3) summary
    smart00027
    Location:438531
    EH; Eps15 homology domain
    cd09913
    Location:60300
    EHD; Eps15 homology domain (EHD), C-terminal domain
    cd00052
    Location:448513
    EH; Eps15 homology domain; found in proteins implicated in endocytosis, vesicle transport, and signal transduction. The alignment contains a pair of EF-hand motifs, typically one of them is canonical and binds to Ca2+, while the other may not bind to Ca2+. A ...

Alternate CHM1_1.1

Genomic

  1. NC_018922.2 Alternate CHM1_1.1

    Range
    64504019..64530952
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000143.1 Alternate HuRef

    Range
    60947269..60974219
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)