Ehd3 EH-domain containing 3 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Ehd3provided by MGI
Official Full Name: EH-domain containing 3provided by MGI
Primary source: MGI:MGI:1928900
See related: Ensembl:ENSMUSG00000024065 AllianceGenome:MGI:1928900
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Ehd2
Summary: Predicted to enable calcium ion binding activity; lipid binding activity; and purine ribonucleoside triphosphate binding activity. Involved in cilium assembly; positive regulation of voltage-gated calcium channel activity; and regulation of heart contraction. Acts upstream of or within protein localization to plasma membrane and regulation of cardiac muscle cell membrane potential. Located in endocytic vesicle and perinuclear region of cytoplasm. Is expressed in several structures, including adrenal gland; central nervous system; ganglia; otic capsule; and turbinate bone primordium. Orthologous to human EHD3 (EH domain containing 3). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in kidney adult (RPKM 16.6), cerebellum adult (RPKM 16.4) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 17 E2; 17 45.2 cM

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	17	NC_000083.7 (74111836..74139088)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	17	NC_000083.6 (73804841..73832093)

Chromosome 17 - NC_000083.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

EHD3 positively regulated by NR5A1 participates in testosterone synthesis via endocytosis.
Title: EHD3 positively regulated by NR5A1 participates in testosterone synthesis via endocytosis.
EHD3 and phosphatidic acid cooperatively regulate membrane deformation and trafficking from early endosomes.
Title: Phosphatidic acid induces EHD3-containing membrane tubulation and is required for receptor recycling.
CaV3.1 and CaV3.2 are substrates for EHD3-dependent protein trafficking in heart
Title: Eps15 Homology Domain-containing Protein 3 Regulates Cardiac T-type Ca2+ Channel Targeting and Function in the Atria.
Early steps in primary cilium assembly require EHD1/EHD3-dependent ciliary vesicle formation.
Title: Early steps in primary cilium assembly require EHD1/EHD3-dependent ciliary vesicle formation.
EHD3 is a critical component of protein trafficking in heart and is essential for the proper membrane targeting of select cellular proteins that maintain excitability.
Title: EHD3-dependent endosome pathway regulates cardiac membrane excitability and physiology.
EHD-mediated endocytic traffic of key surface receptors such as VEGFR2 is essential for physiological control of glomerular function.
Title: Renal thrombotic microangiopathy in mice with combined deletion of endocytic recycling regulators EHD3 and EHD4.
EHD3: a protein that resides in recycling tubular and vesicular membrane structures and interacts with EHD1.
Title: EHD3: a protein that resides in recycling tubular and vesicular membrane structures and interacts with EHD1.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (2) 1 citation
Endonuclease-mediated (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D17Mit206 (e-PCR), detects polymorphism
- UniSTS:128021

RH142835 (e-PCR)
- UniSTS:232082

Gene Ontology Provided by MGI

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 lipid binding	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables nucleotide binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

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

Component	Evidence Code	Pubs
located_in cell projection	IEA Inferred from Electronic Annotation more info
located_in ciliary pocket membrane	ISO Inferred from Sequence Orthology more info
located_in cilium	IEA Inferred from Electronic Annotation more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasmic vesicle	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 endocytic vesicle	IDA Inferred from Direct Assay more info	PubMed
located_in endosome	IEA Inferred from Electronic Annotation more info
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in myelin sheath	HDA more info	PubMed
is_active_in perinuclear region of cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed
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	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: EH domain-containing protein 3

Names: EH-domain containing protein 2

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_020578.3 → NP_065603.2 EH domain-containing protein 3

See identical proteins and their annotated locations for NP_065603.2

Status: VALIDATED

Source sequence(s)

AA510832, AK141265

Consensus CDS

CCDS28966.1

UniProtKB/Swiss-Prot

Q8K590, Q9QXY6

Related

ENSMUSP00000024860.8, ENSMUST00000024860.9

Conserved Domains (3) summary

smart00027
Location:438 → 531

EH; Eps15 homology domain

cd09913
Location:60 → 300

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

pfam16880
Location:37 → 56

EHD_N; N-terminal EH-domain containing protein