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Aliases for EHD3 Gene

Aliases for EHD3 Gene

  • EH Domain Containing 3 2 3 5
  • PAST Homolog 3 3 4
  • PAST3 3 4
  • EH Domain-Containing Protein 3 3
  • EHD2 4

External Ids for EHD3 Gene

Previous HGNC Symbols for EHD3 Gene

  • PAST3

Previous GeneCards Identifiers for EHD3 Gene

  • GC02P031380
  • GC02P031564
  • GC02P031431
  • GC02P031368
  • GC02P031310
  • GC02P031194
  • GC02P031456

Summaries for EHD3 Gene

GeneCards Summary for EHD3 Gene

EHD3 (EH Domain Containing 3) is a Protein Coding gene. Among its related pathways are Factors involved in megakaryocyte development and platelet production and Cholesterol and Sphingolipids transport / Recycling to plasma membrane in lung (normal and CF). GO annotations related to this gene include nucleic acid binding and GTP binding. An important paralog of this gene is EHD1.

UniProtKB/Swiss-Prot for EHD3 Gene

  • ATP- and membrane-binding protein that controls membrane reorganization/tubulation upon ATP hydrolysis (PubMed:25686250). In vitro causes tubulation of endocytic membranes (PubMed:24019528). Binding to phosphatidic acid induces its membrane tubulation activity (By similarity). Plays a role in endocytic transport. Involved in early endosome to recycling endosome compartment (ERC), retrograde early endosome to Golgi, and endosome to plasma membrane (rapid recycling) protein transport. Involved in the regulation of Golgi maintenance and morphology (PubMed:16251358, PubMed:17233914, PubMed:19139087, PubMed:23781025). Involved in the recycling of internalized D1 dopamine receptor (PubMed:21791287). Plays a role in cardiac protein trafficking probably implicating ANK2 (PubMed:20489164). Involved in the ventricular membrane targeting of SLC8A1 and CACNA1C and probably the atrial membrane localization of CACNA1GG and CACNA1H implicated in the regulation of atrial myocyte excitability and cardiac conduction (By similarity). In conjunction with EHD4 may be involved in endocytic trafficking of KDR/VEGFR2 implicated in control of glomerular function (By similarity). Involved in the rapid recycling of integrin beta-3 implicated in cell adhesion maintenance (PubMed:23781025). Involved in the unidirectional retrograde dendritic transport of endocytosed BACE1 and in efficient sorting of BACE1 to axons implicating a function in neuronal APP processing (By similarity). Plays a role in the formation of the ciliary vesicle, an early step in cilium biogenesis; possibly sharing redundant functions with EHD1 (PubMed:25686250).

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EHD3 Gene

Genomics for EHD3 Gene

Regulatory Elements for EHD3 Gene

Enhancers for EHD3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02F031268 0.8 Ensembl ENCODE 23.9 +36.6 36586 3.5 JUND HCFC1 ZNF143 ETS1 NR2F2 EHD3 CAPN14 PIR43580 RPL21P70
GH02F031323 1 Ensembl ENCODE 15.3 +90.4 90388 1.2 IRF2 RAD21 YY1 ZNF316 HNF4G NFE2 FOS MAFK MTA2 JUNB EHD3 CAPN14 GC02P031291 PIR52882 GC02M031380
GH02F031317 1.2 FANTOM5 Ensembl ENCODE 10.8 +85.1 85087 3.8 MTA2 MAX FEZF1 EBF1 ZIC2 JUND ZNF341 EED IKZF1 GLIS1 EHD3 ENSG00000234579 GC02P031291 GC02M031380 PIR52882
GH02F031281 0.5 ENCODE 23.7 +48.4 48440 2.0 GATA3 JUND JUN IRF1 EHD3 GALNT14 CAPN14 RPL21P70 PIR43580
GH02F031251 0.9 Ensembl ENCODE 12.7 +18.8 18818 3.1 HDGF CTCF KLF1 BHLHE40 EBF1 JUND ZFHX2 NBN FOXP2 EGR2 EHD3 PIR36197 PIR44065
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around EHD3 on UCSC Golden Path with GeneCards custom track

Promoters for EHD3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000122009 386 1601 ZNF76 KLF17 SIN3A RAD21 ZBTB40 ETS1 YY1 CREM ZNF654 SP3

Genomic Location for EHD3 Gene

Chromosome:
2
Start:
31,234,014 bp from pter
End:
31,269,451 bp from pter
Size:
35,438 bases
Orientation:
Plus strand

Genomic View for EHD3 Gene

Genes around EHD3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EHD3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EHD3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EHD3 Gene

Proteins for EHD3 Gene

  • Protein details for EHD3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NZN3-EHD3_HUMAN
    Recommended name:
    EH domain-containing protein 3
    Protein Accession:
    Q9NZN3
    Secondary Accessions:
    • B4DFR5
    • D6W574
    • Q8N514
    • Q9NZB3

    Protein attributes for EHD3 Gene

    Size:
    535 amino acids
    Molecular mass:
    60887 Da
    Quaternary structure:
    • Homooligomer, and heterooligomer with EHD1, EHD2 and EHD4, ATP-binding is required for heterooligomerization (PubMed:16251358, PubMed:17233914). Interacts with PACSIN1 (By similarity). Interacts with PACSIN2 (By similarity). Interacts (via EH domain) with MICALL1 (PubMed:19864458). Interacts (via EH domain) with RAB11FIP2 (PubMed:16251358). Interacts with ANK2 (PubMed:20489164).
    SequenceCaution:
    • Sequence=AAF40471.1; Type=Frameshift; Positions=527; Evidence={ECO:0000305};

    Alternative splice isoforms for EHD3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EHD3 Gene

Post-translational modifications for EHD3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for EHD3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for EHD3 Gene

Domains & Families for EHD3 Gene

Gene Families for EHD3 Gene

Suggested Antigen Peptide Sequences for EHD3 Gene

Graphical View of Domain Structure for InterPro Entry

Q9NZN3

UniProtKB/Swiss-Prot:

EHD3_HUMAN :
  • The EH domain interacts with Asn-Pro-Phe (NPF) motifs of target proteins.
  • Belongs to the TRAFAC class dynamin-like GTPase superfamily. Dynamin/Fzo/YdjA family. EHD subfamily.
Domain:
  • The EH domain interacts with Asn-Pro-Phe (NPF) motifs of target proteins.
  • Contains 1 dynamin-type G (guanine nucleotide-binding) domain.
  • Contains 1 EF-hand domain.
  • Contains 1 EH domain.
Family:
  • Belongs to the TRAFAC class dynamin-like GTPase superfamily. Dynamin/Fzo/YdjA family. EHD subfamily.
genes like me logo Genes that share domains with EHD3: view

Function for EHD3 Gene

Molecular function for EHD3 Gene

UniProtKB/Swiss-Prot Function:
ATP- and membrane-binding protein that controls membrane reorganization/tubulation upon ATP hydrolysis (PubMed:25686250). In vitro causes tubulation of endocytic membranes (PubMed:24019528). Binding to phosphatidic acid induces its membrane tubulation activity (By similarity). Plays a role in endocytic transport. Involved in early endosome to recycling endosome compartment (ERC), retrograde early endosome to Golgi, and endosome to plasma membrane (rapid recycling) protein transport. Involved in the regulation of Golgi maintenance and morphology (PubMed:16251358, PubMed:17233914, PubMed:19139087, PubMed:23781025). Involved in the recycling of internalized D1 dopamine receptor (PubMed:21791287). Plays a role in cardiac protein trafficking probably implicating ANK2 (PubMed:20489164). Involved in the ventricular membrane targeting of SLC8A1 and CACNA1C and probably the atrial membrane localization of CACNA1GG and CACNA1H implicated in the regulation of atrial myocyte excitability and cardiac conduction (By similarity). In conjunction with EHD4 may be involved in endocytic trafficking of KDR/VEGFR2 implicated in control of glomerular function (By similarity). Involved in the rapid recycling of integrin beta-3 implicated in cell adhesion maintenance (PubMed:23781025). Involved in the unidirectional retrograde dendritic transport of endocytosed BACE1 and in efficient sorting of BACE1 to axons implicating a function in neuronal APP processing (By similarity). Plays a role in the formation of the ciliary vesicle, an early step in cilium biogenesis; possibly sharing redundant functions with EHD1 (PubMed:25686250).

Gene Ontology (GO) - Molecular Function for EHD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding TAS 10673336
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 17233914
GO:0005524 ATP binding IEA --
GO:0005525 GTP binding IEA --
genes like me logo Genes that share ontologies with EHD3: view
genes like me logo Genes that share phenotypes with EHD3: view

Animal Models for EHD3 Gene

MGI Knock Outs for EHD3:

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for EHD3 Gene

Localization for EHD3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EHD3 Gene

Recycling endosome membrane; Peripheral membrane protein; Cytoplasmic side. Cell membrane; Peripheral membrane protein; Cytoplasmic side. Cell projection, cilium membrane; Peripheral membrane protein; Cytoplasmic side. Note=Localizes to the ciliary pocket from where the cilium protrudes (PubMed:25686250). Colocalizes with RAB8A and MYO5B to a cytoplasmic tubular network devoid of RAB11A (By similarity). Colocalizes with ANK2 in myocyte perinuclear region (PubMed:20489164). Colocalizes with BACE1 in tubulovesicular cytoplasmic membranes. Colocalizes with BACE1 and APP amyloid beta proteins in hippocampal mossy fiber terminals (By similarity). {ECO:0000250 UniProtKB:Q9QXY6, ECO:0000269 PubMed:20489164, ECO:0000269 PubMed:25686250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for EHD3 gene
Compartment Confidence
plasma membrane 5
nucleus 5
endosome 5
cytosol 4
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for EHD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus TAS 10673336
GO:0005737 cytoplasm IEA,ISS --
GO:0005768 endosome IEA --
GO:0005829 cytosol IEA --
GO:0005886 plasma membrane IEA --
genes like me logo Genes that share ontologies with EHD3: view

Pathways & Interactions for EHD3 Gene

genes like me logo Genes that share pathways with EHD3: view

Pathways by source for EHD3 Gene

Gene Ontology (GO) - Biological Process for EHD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001881 receptor recycling IMP 21791287
GO:0006810 transport IEA --
GO:0007596 blood coagulation TAS --
GO:0015031 protein transport IEA --
GO:0030030 cell projection organization IEA --
genes like me logo Genes that share ontologies with EHD3: view

No data available for SIGNOR curated interactions for EHD3 Gene

Transcripts for EHD3 Gene

mRNA/cDNA for EHD3 Gene

Unigene Clusters for EHD3 Gene

EH-domain containing 3:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for EHD3 Gene

No ASD Table

Relevant External Links for EHD3 Gene

GeneLoc Exon Structure for
EHD3
ECgene alternative splicing isoforms for
EHD3

Expression for EHD3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for EHD3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for EHD3 Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (x4.6), Brain - Cortex (x4.3), and Brain - Anterior cingulate cortex (BA24) (x4.3).

Protein differential expression in normal tissues from HIPED for EHD3 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (23.3) and Brain (10.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for EHD3 Gene



Protein tissue co-expression partners for EHD3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of EHD3 Gene:

EHD3

SOURCE GeneReport for Unigene cluster for EHD3 Gene:

Hs.368808

mRNA Expression by UniProt/SwissProt for EHD3 Gene:

Q9NZN3-EHD3_HUMAN
Tissue specificity: Highly expressed in heart and brain and moderately expressed in kidney, liver, and placenta.
genes like me logo Genes that share expression patterns with EHD3: view

Primer Products

Orthologs for EHD3 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for EHD3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EHD3 34 35
  • 99.5 (n)
cow
(Bos Taurus)
Mammalia MGC139254 35
  • 97 (a)
OneToOne
EHD3 34
  • 90.97 (n)
oppossum
(Monodelphis domestica)
Mammalia EHD3 35
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia EHD3 34 35
  • 91.78 (n)
mouse
(Mus musculus)
Mammalia Ehd3 34 16 35
  • 88.79 (n)
rat
(Rattus norvegicus)
Mammalia Ehd3 34
  • 88.79 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia EHD3 35
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves EHD3 34 35
  • 84.86 (n)
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 91 (a)
OneToMany
-- 35
  • 90 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii ehd3 34 35
  • 79.63 (n)
fruit fly
(Drosophila melanogaster)
Insecta Past1 36
  • 49 (a)
worm
(Caenorhabditis elegans)
Secernentea rme-1 36
  • 69 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons EHD2 34
  • 57.78 (n)
rice
(Oryza sativa)
Liliopsida Os02g0158100 34
  • 58.75 (n)
barley
(Hordeum vulgare)
Liliopsida Hv.5768 34
wheat
(Triticum aestivum)
Liliopsida Ta.10232 34
Species where no ortholog for EHD3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)

Evolution for EHD3 Gene

ENSEMBL:
Gene Tree for EHD3 (if available)
TreeFam:
Gene Tree for EHD3 (if available)

Paralogs for EHD3 Gene

Paralogs for EHD3 Gene

(4) SIMAP similar genes for EHD3 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with EHD3: view

Variants for EHD3 Gene

Sequence variations from dbSNP and Humsavar for EHD3 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs10176736 -- 31,242,675(+) CAGGT(G/T)GCTGG intron-variant
rs10531721 -- 31,262,897(+) GCAAC(-/AGAG)AAAGA intron-variant
rs111257388 -- 31,267,440(+) GTTAG(A/C)TGTTC utr-variant-3-prime
rs111273271 -- 31,241,123(+) GGAAC(C/T)CCACA intron-variant
rs111274340 -- 31,232,528(+) ATGCC(C/T)AGAGA intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for EHD3 Gene

Variant ID Type Subtype PubMed ID
nsv581268 CNV loss 21841781
nsv1128789 CNV duplication 24896259
esv3583708 CNV loss 25503493
dgv3746n100 CNV loss 25217958

Variation tolerance for EHD3 Gene

Residual Variation Intolerance Score: 13.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.32; 26.25% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for EHD3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
EHD3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EHD3 Gene

Disorders for EHD3 Gene

Relevant External Links for EHD3

Genetic Association Database (GAD)
EHD3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EHD3

No disorders were found for EHD3 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for EHD3 Gene

Publications for EHD3 Gene

  1. EHD2, EHD3, and EHD4 encode novel members of a highly conserved family of EH domain-containing proteins. (PMID: 10673336) Pohl U. … Louis D.N. (Genomics 2000) 2 3 4 64
  2. Early steps in primary cilium assembly require EHD1/EHD3-dependent ciliary vesicle formation. (PMID: 25686250) Lu Q. … Westlake C.J. (Nat. Cell Biol. 2015) 3 4 64
  3. SUMOylation of EHD3 Modulates Tubulation of the Endocytic Recycling Compartment. (PMID: 26226295) Cabasso O. … Horowitz M. (PLoS ONE 2015) 3 4 64
  4. Differential roles of C-terminal Eps15 homology domain proteins as vesiculators and tubulators of recycling endosomes. (PMID: 24019528) Cai B. … Caplan S. (J. Biol. Chem. 2013) 3 4 64
  5. Endocytosis promotes rapid dopaminergic signaling. (PMID: 21791287) Kotowski S.J. … von Zastrow M. (Neuron 2011) 3 4 64

Products for EHD3 Gene

Sources for EHD3 Gene

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