Ehd1 EH-domain containing 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Ehd1provided by MGI
Official Full Name: EH-domain containing 1provided by MGI
Primary source: MGI:MGI:1341878
See related: Ensembl:ENSMUSG00000024772 AllianceGenome:MGI:1341878
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: Past1; RME-1
Summary: Predicted to enable identical protein binding activity and small GTPase binding activity. Involved in several processes, including cholesterol homeostasis; low-density lipoprotein particle clearance; and positive regulation of cholesterol storage. Acts upstream of or within endocytosis and endosomal transport. Located in several cellular components, including cytoplasmic vesicle; lipid droplet; and platelet dense tubular network membrane. Is expressed in several structures, including branchial arch; limb bud; musculoskeletal system; reproductive system; and retina layer. Orthologous to human EHD1 (EH domain containing 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in testis adult (RPKM 79.5), duodenum adult (RPKM 51.9) and 26 other tissues See more
Orthologs: human all
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Genomic context

Location:: 19 A; 19 4.4 cM

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	19	NC_000085.7 (6326926..6350126)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	19	NC_000085.6 (6276896..6300096)

Chromosome 19 - NC_000085.7 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: 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?

EHD1-dependent traffic of IGF-1 receptor to the cell surface is essential for Ewing sarcoma tumorigenesis and metastasis.
Title: EHD1-dependent traffic of IGF-1 receptor to the cell surface is essential for Ewing sarcoma tumorigenesis and metastasis.
Sorting nexin 17 (SNX17) links endosomal sorting to Eps15 homology domain protein 1 (EHD1)-mediated fission machinery.
Title: Sorting nexin 17 (SNX17) links endosomal sorting to Eps15 homology domain protein 1 (EHD1)-mediated fission machinery.
We edited the Ehd1 gene in cell lines as well as mice using CRISPR/Cas9, and found that the genotype distribution was significantly different. The lethal allele index calculated from these data was similar to the value calculated from the International Mouse Phenotyping Consortium data
Title: Quantitative evaluation of incomplete preweaning lethality in mice by using the CRISPR/Cas9 system.
EHD1, EHD2, and EHD4 are recruited to caveolae. Recruitment of the other EHDs increases markedly when EHD2, which has been previously detected at caveolae, is absent. Construction of knockout cell lines lacking EHDs 1, 2, and 4 confirms this apparent functional redundancy.
Title: EHD Proteins Cooperate to Generate Caveolar Clusters and to Maintain Caveolae during Repeated Mechanical Stress.
These findings reveal a novel and functionally important role for EHD1 in governing CSF-1R signalling via regulation of anterograde transport of CSF-1R to the macrophage cell surface.
Title: CSF-1 receptor signalling is governed by pre-requisite EHD1 mediated receptor display on the macrophage cell surface.
regulates the maintenance of T-tubules through its interaction with BIN1
Title: Eps 15 Homology Domain (EHD)-1 Remodels Transverse Tubules in Skeletal Muscle.
these data reveal a unique role for EHD1 in early lens development.
Title: The endocytic recycling regulatory protein EHD1 Is required for ocular lens development.
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.
tubule formation in myoblasts relies on a functional EHD1 ATPase domain. EHD1 regulates BIN1 induced tubule formation.
Title: EHD1 mediates vesicle trafficking required for normal muscle growth and transverse tubule development.
The characterization of Fer1L5 and its interaction with EHD1 and EHD2 underscores the complex requirement of ferlin proteins and mediators of endocytic recycling for membrane trafficking events during myotube formation
Title: Endocytic recycling proteins EHD1 and EHD2 interact with fer-1-like-5 (Fer1L5) and mediate myoblast fusion.

Submit: New GeneRIF Correction See all GeneRIFs (16)

Variation

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Alleles

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

Targeted (6) 1 citation
Endonuclease-mediated (5) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH125861 (e-PCR)
- UniSTS:162598

RH126862 (e-PCR)
- UniSTS:207253

RH124877 (e-PCR)
- UniSTS:161699

REN56823 (e-PCR)
- UniSTS:381623

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 identical protein binding	ISO Inferred from Sequence Orthology 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
enables small GTPase binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within cell projection organization	IEA Inferred from Electronic Annotation more info
involved_in cellular response to nerve growth factor stimulus	ISO Inferred from Sequence Orthology more info
involved_in cholesterol homeostasis	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 cilium assembly	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
acts_upstream_of_or_within endocytosis	IDA Inferred from Direct Assay more info	PubMed
involved_in endocytosis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within endosomal transport	IDA Inferred from Direct Assay more info	PubMed
involved_in intracellular protein transport	ISO Inferred from Sequence Orthology more info
involved_in low-density lipoprotein particle clearance	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neuron projection development	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of cholesterol storage	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of endocytic recycling	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of myoblast fusion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of neuron projection development	ISO Inferred from Sequence Orthology more info
involved_in protein homooligomerization	ISO Inferred from Sequence Orthology more info
involved_in protein localization to cilium	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 transport	IEA Inferred from Electronic Annotation more info

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 cytoplasmic vesicle	IEA Inferred from Electronic Annotation more info
is_active_in early endosome	IBA Inferred from Biological aspect of Ancestor more info
located_in early endosome	IDA Inferred from Direct Assay more info	PubMed
located_in early endosome membrane	ISO Inferred from Sequence Orthology 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	IDA Inferred from Direct Assay more info	PubMed
located_in endosome membrane	ISO Inferred from Sequence Orthology more info
located_in lipid droplet	IDA Inferred from Direct Assay more info	PubMed
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
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in platelet dense tubular network membrane	IDA Inferred from Direct Assay more info	PubMed
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 1

Names: PAST homolog 1; mPAST1

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_010119.5 → NP_034249.1 EH domain-containing protein 1

See identical proteins and their annotated locations for NP_034249.1

Status: VALIDATED

Source sequence(s)

AC127556

Consensus CDS

CCDS29501.1

UniProtKB/Swiss-Prot

Q9WVK4

UniProtKB/TrEMBL

Q3TGS1, Q3TIT3, Q3TUW9, Q7TPR6, Q80ZZ0

Related

ENSMUSP00000025684.4, ENSMUST00000025684.4

Conserved Domains (4) summary

smart00027
Location:438 → 531

EH; Eps15 homology domain

cd09913
Location:60 → 300

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

pfam16880
Location:24 → 56

EHD_N; N-terminal EH-domain containing protein

pfam18150
Location:288 → 394

DUF5600; Domain of unknown function (DUF5600)