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EHD3 EH domain containing 3 [ Homo sapiens (human) ]

Gene ID: 30845, updated on 4-Nov-2018

Summary

Official Symbol
EHD3provided by HGNC
Official Full Name
EH domain containing 3provided by HGNC
Primary source
HGNC:HGNC:3244
See related
Ensembl:ENSG00000013016 MIM:605891; Vega:OTTHUMG00000099365
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PAST3
Expression
Broad expression in brain (RPKM 25.4), esophagus (RPKM 14.7) and 17 other tissues See more
Orthologs

Genomic context

See EHD3 in Genome Data Viewer
Location:
2p23.1
Exon count:
7
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (31234014..31269451)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (31456880..31491260)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985861 Neighboring gene calpain 14 Neighboring gene RNA, 5S ribosomal pseudogene 90 Neighboring gene ribosomal protein L21 pseudogene 70 Neighboring gene xanthine dehydrogenase

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects.
NHGRI GWA Catalog
A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium.
NHGRI GWA Catalog
Genome-wide association study of circulating estradiol, testosterone, and sex hormone-binding globulin in postmenopausal women.
NHGRI GWA Catalog
New gene functions in megakaryopoiesis and platelet formation.
NHGRI GWA Catalog

Pathways from BioSystems

  • 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...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

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
 
calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
nucleic acid binding TAS
Traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
Golgi to lysosome transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
blood coagulation TAS
Traceable Author Statement
more info
 
cilium assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
early endosome to Golgi transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
endocytic recycling IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of voltage-gated calcium channel activity IEA
Inferred from Electronic Annotation
more info
 
protein homooligomerization IPI
Inferred from Physical Interaction
more info
PubMed 
protein localization to plasma membrane IGI
Inferred from Genetic Interaction
more info
PubMed 
protein transport IEA
Inferred from Electronic Annotation
more info
 
receptor recycling IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of Golgi organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of cardiac conduction IEA
Inferred from Electronic Annotation
more info
 
regulation of cardiac muscle cell membrane potential IGI
Inferred from Genetic Interaction
more info
PubMed 
regulation of cardiac muscle contraction IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
ciliary pocket membrane IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
cytosol IEA
Inferred from Electronic Annotation
more info
 
endocytic vesicle IEA
Inferred from Electronic Annotation
more info
 
endosome membrane TAS
Traceable Author Statement
more info
 
focal adhesion HDA PubMed 
myelin sheath IEA
Inferred from Electronic Annotation
more info
 
nucleus TAS
Traceable Author Statement
more info
PubMed 
perinuclear region of cytoplasm IEA
Inferred from Electronic Annotation
more info
 
recycling endosome membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
EH domain-containing protein 3
Names
PAST homolog 3

NCBI Reference Sequences (RefSeq)

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_014600.2NP_055415.1  EH domain-containing protein 3

    See identical proteins and their annotated locations for NP_055415.1

    Status: VALIDATED

    Source sequence(s)
    AF214736, AK316006, BC033100, DA196836
    Consensus CDS
    CCDS1774.1
    UniProtKB/Swiss-Prot
    Q9NZN3
    Related
    ENSP00000327116.5, OTTHUMP00000125203, ENST00000322054.9, OTTHUMT00000216810
    Conserved Domains (4) 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 ...
    pfam16880
    Location:3756
    EHD_N; N-terminal EH-domain containing protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p12 Primary Assembly

    Range
    31234014..31269451
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011532806.2XP_011531108.1  EH domain-containing protein 3 isoform X1

    Conserved Domains (3) summary
    smart00027
    Location:225318
    EH; Eps15 homology domain
    cd00052
    Location:235300
    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 ...
    cl21455
    Location:187
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
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