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

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; AllianceGenome:HGNC:3244
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
Summary: Predicted to enable nucleic acid binding activity. Involved in several processes, including cytosolic transport; endocytic recycling; and protein homooligomerization. Acts upstream of or within protein localization to plasma membrane and regulation of cardiac muscle cell membrane potential. Located in ciliary pocket membrane and recycling endosome membrane. [provided by Alliance of Genome Resources, Oct 2024]
Expression: Broad expression in brain (RPKM 25.4), esophagus (RPKM 14.7) and 17 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2p23.1

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (31234152..31269451)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (31278316..31313593)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (31457018..31492317)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Data provide evidence that EHD3 might undergo its tumor suppressor functions at least in part through promoting the sorting of activated EGFR to the lysosomal degradative compartment and spatio-temporal regulation of EGFR signaling via ERK and AKT.
Title: Spatio-temporal regulation of EGFR signaling by the Eps15 homology domain-containing protein 3 (EHD3).
the residues Ala-519/Asp-520 of EHD1 and Asn-519/Glu-520 of EHD3 as defining the selectivity of these two paralogs for NPF-containing binding partners
Title: EHD3 Protein Is Required for Tubular Recycling Endosome Stabilization, and an Asparagine-Glutamic Acid Residue Pair within Its Eps15 Homology (EH) Domain Dictates Its Selective Binding to NPF Peptides.
The EHD3 gene may be associated with the endophenotype of cognitive function in major depressive disorder patients.
Title: Association between EHD3 gene and the cognitive function of patients with major depressive disorder.
3 SNPs present in the EHD3 gene, of which rs619002 and rs644926 were exclusively associated with female major depressive disorder
Title: The gender-specific association of EHD3 polymorphisms with major depressive disorder.
demonstrate Ehd3 growth inhibitory functions in glioma cells in vivo. We suggest that Ehd3 functions as a tumor suppressor gene and loss of its expression is a very common event in gliomas
Title: Ehd3, a regulator of vesicular trafficking, is silenced in gliomas and functions as a tumor suppressor by controlling cell cycle arrest and apoptosis.
evidence that the functions of both EHD1 and EHD4 are primarily in TRE membrane vesiculation, whereas EHD3 is a membrane-tubulating protein.
Title: Differential roles of C-terminal Eps15 homology domain proteins as vesiculators and tubulators of recycling endosomes.
The combined effect of the EHD3 and FREM3 genes may play an important role in developing major depressive disorder.
Title: A study of the combined effects of the EHD3 and FREM3 genes in patients with major depressive disorder.
EHD3 is a previously unrecognized component of the cardiac remodeling pathway in heart failure.
Title: Differential regulation of EHD3 in human and mammalian heart failure.
A new class of cardiac trafficking proteins(EHD1, EHD2, EHD3, EHD4) regulates cardiac membrane protein targeting.
Title: EH domain proteins regulate cardiac membrane protein targeting.
Our findings support a role for EHD3 in regulating endosome-to-Golgi transport, and as a consequence, lysosomal biosynthetic, but not secretory, transport pathways are also affected
Title: EHD3 regulates early-endosome-to-Golgi transport and preserves Golgi morphology.

Submit: New GeneRIF Correction See all GeneRIFs (13)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

T03471 (e-PCR)
- UniSTS:60984

D2S2137 (e-PCR)
- UniSTS:154242

RH142835 (e-PCR)
- UniSTS:232082

RH11745 (e-PCR)
- UniSTS:71367

RH12575 (e-PCR)
- UniSTS:71368

EHD3_613 (e-PCR)
- UniSTS:277194

EHD3_V18 (e-PCR)
- UniSTS:277194

RH109431 (e-PCR)
- UniSTS:209624

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 calcium ion binding	IEA Inferred from Electronic Annotation more info
enables nucleic acid binding	TAS Traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in Golgi to lysosome transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cilium assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in early endosome to Golgi transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in endocytic recycling	IBA Inferred from Biological aspect of Ancestor more info
involved_in endocytic recycling	IDA Inferred from Direct Assay more info	PubMed
involved_in endocytosis	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of voltage-gated calcium channel activity	IEA Inferred from Electronic Annotation more info
involved_in protein homooligomerization	IPI Inferred from Physical Interaction more info	PubMed
involved_in protein localization to plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within protein localization to plasma membrane	IGI Inferred from Genetic Interaction more info	PubMed
involved_in protein transport	IEA Inferred from Electronic Annotation more info
involved_in receptor recycling	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of Golgi organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of cardiac conduction	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within regulation of cardiac muscle cell membrane potential	IGI Inferred from Genetic Interaction more info	PubMed
involved_in regulation of cardiac muscle contraction	IEA Inferred from Electronic Annotation more info

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
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
located_in cytosol	IEA Inferred from Electronic Annotation more info
is_active_in early endosome	IBA Inferred from Biological aspect of Ancestor more info
is_active_in endocytic vesicle	IBA Inferred from Biological aspect of Ancestor more info
located_in endosome membrane	TAS Traceable Author Statement more info
located_in focal adhesion	HDA more info	PubMed
located_in nucleus	TAS Traceable Author Statement more info	PubMed
is_active_in perinuclear region of cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
is_active_in recycling endosome membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in recycling endosome membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: EH domain-containing protein 3

Names: PAST homolog 3

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)

NM_014600.3 → NP_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, AL121657, BC033100, DA196836

Consensus CDS

CCDS1774.1

UniProtKB/Swiss-Prot

B4DFR5, D6W574, Q8N514, Q9NZB3, Q9NZN3

Related

ENSP00000327116.5, ENST00000322054.10

Conserved Domains (4) summary

smart00027
Location:438 → 531

EH; Eps15 homology domain

cd09913
Location:60 → 300

EHD; Eps15 homology domain (EHD), C-terminal domain

cd00052
Location:448 → 513

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:37 → 56

EHD_N; N-terminal EH-domain containing protein

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000002.12 Reference GRCh38.p14 Primary Assembly

Range

31234152..31269451

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Conserved Domains (3) summary

smart00027
Location:225 → 318

EH; Eps15 homology domain

cd00052
Location:235 → 300

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:1 → 87

P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases