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

Gene ID: 10938, updated on 5-Sep-2021

Summary

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
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

See EHD1 in Genome Data Viewer
Location:
11q13.1
Exon count:
7
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (64851642..64879693, complement)
105.20201022 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 CDC42 binding protein kinase gamma Neighboring gene Sharpr-MPRA regulatory region 8286 Neighboring gene microRNA 10392 Neighboring gene ribosomal protein S16 pseudogene 6 Neighboring gene MIR194-2 host gene Neighboring gene microRNA 192

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
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
PubMed 
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
PubMed 
involved_in endocytosis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in endosomal transport IBA
Inferred from Biological aspect of Ancestor
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
PubMed 
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
PubMed 
is_active_in early endosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
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 
is_active_in intracellular membrane-bounded organelle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
 
is_active_in recycling endosome membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in recycling endosome membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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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_001282444.2NP_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
    Q9H4M9
    UniProtKB/TrEMBL
    B2R5U3
    Related
    ENSP00000352354.2, ENST00000359393.6
    Conserved Domains (4) summary
    smart00027
    Location:438531
    EH; Eps15 homology domain
    cd09913
    Location:60300
    EHD; Eps15 homology domain (EHD), C-terminal domain
    pfam16880
    Location:2456
    EHD_N; N-terminal EH-domain containing protein
    pfam18150
    Location:288394
    DUF5600; Domain of unknown function (DUF5600)
  2. NM_001282445.2NP_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/Swiss-Prot
    Q9H4M9
    UniProtKB/TrEMBL
    A0A024R571
    Related
    ENSP00000479153.1, ENST00000621096.4
    Conserved Domains (3) summary
    smart00027
    Location:452545
    EH; Eps15 homology domain
    cd09913
    Location:74314
    EHD; Eps15 homology domain (EHD), C-terminal domain
    pfam16880
    Location:3970
    EHD_N; N-terminal EH-domain containing protein
  3. NM_006795.4NP_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
    Q9H4M9
    UniProtKB/TrEMBL
    B2R5U3
    Related
    ENSP00000320516.3, ENST00000320631.8
    Conserved Domains (4) summary
    smart00027
    Location:438531
    EH; Eps15 homology domain
    cd09913
    Location:60300
    EHD; Eps15 homology domain (EHD), C-terminal domain
    pfam16880
    Location:2456
    EHD_N; N-terminal EH-domain containing protein
    pfam18150
    Location:288394
    DUF5600; Domain of unknown function (DUF5600)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    64851642..64879693 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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