EHD4 EH domain containing 4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: EHD4provided by HGNC
Official Full Name: EH domain containing 4provided by HGNC
Primary source: HGNC:HGNC:3245
See related: Ensembl:ENSG00000103966 MIM:605892; AllianceGenome:HGNC:3245
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: PAST4
Summary: Enables cadherin binding activity. Involved in endocytic recycling and protein homooligomerization. Located in endoplasmic reticulum and recycling endosome membrane. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in urinary bladder (RPKM 15.6), gall bladder (RPKM 14.3) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 15q15.1

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	15	NC_000015.10 (41895933..41972557, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	15	NC_060939.1 (39701891..39778529, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (42188131..42264755, complement)

Chromosome 15 - NC_000015.10 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: 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?

A junctional PACSIN2/EHD4/MICAL-L1 complex coordinates VE-cadherin trafficking for endothelial migration and angiogenesis.
Title: A junctional PACSIN2/EHD4/MICAL-L1 complex coordinates VE-cadherin trafficking for endothelial migration and angiogenesis.
Identification of phostensin in association with Eps 15 homology domain-containing protein 1 (EHD1) and EHD4.
Title: Identification of phostensin in association with Eps 15 homology domain-containing protein 1 (EHD1) and EHD4.
Eps15 Homology Domain Protein 4 (EHD4) is required for Eps15 Homology Domain Protein 1 (EHD1)-mediated endosomal recruitment and fission.
Title: Eps15 Homology Domain Protein 4 (EHD4) is required for Eps15 Homology Domain Protein 1 (EHD1)-mediated endosomal recruitment and fission.
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.
Ezrin and EHD4 appear to be involved in the ability of Nef to increase hiv-1 virus infectivity.
Title: Comparative proteomic analysis of HIV-1 particles reveals a role for Ezrin and EHD4 in the Nef-dependent increase of virus infectivity.
Retrograde signaling through Pincher-generated Trk-multivesicular bodies is distinctively refractory to signal termination by lysosomal processing
Title: Trk retrograde signaling requires persistent, Pincher-directed endosomes.
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.
EHD4 is involved in the control of trafficking at the early endosome and regulates exit of cargo toward both the recycling compartment and the late endocytic pathway.
Title: A role for EHD4 in the regulation of early endosomal transport.

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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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Nef	nef	Knockdown of EHD4 by siRNA induces decreased levels of nef-deleted HIV-1 infectivity and decreases the ability of HIV-1 Nef to increase virus infectivity	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-143122 (e-PCR)
- UniSTS:171800

RH98913 (e-PCR)
- UniSTS:86942

D15S752 (e-PCR)
- UniSTS:151744

D15S1190 (e-PCR)
- UniSTS:29888

D15S769 (e-PCR)
- UniSTS:151761

D15S514 (e-PCR)
- UniSTS:148984

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 cadherin binding	HDA more info	PubMed
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 cellular response to growth factor stimulus	IEA Inferred from Electronic Annotation more info
involved_in cilium assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in endocytic recycling	IBA Inferred from Biological aspect of Ancestor more info
involved_in endocytic recycling	IGI Inferred from Genetic Interaction more info	PubMed
involved_in endocytosis	IBA Inferred from Biological aspect of Ancestor more info
involved_in pinocytosis	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of peptidyl-tyrosine phosphorylation	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
involved_in regulation of endocytosis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
is_active_in early endosome	IBA Inferred from Biological aspect of Ancestor more info
located_in early endosome membrane	IEA Inferred from Electronic Annotation more info
is_active_in endocytic vesicle	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info
located_in extracellular exosome	HDA more info	PubMed
located_in membrane	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 4

Names: PAST homolog 4; hepatocellular carcinoma-associated protein 10/11; hepatocellular carcinoma-associated protein HCA11; ortholog of rat pincher

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_139265.4 → NP_644670.1 EH domain-containing protein 4

See identical proteins and their annotated locations for NP_644670.1

Status: VALIDATED

Source sequence(s)

AC020659, AC039056, AK292634, BC051823, BP314075, CF541306

Consensus CDS

CCDS10081.1

UniProtKB/Swiss-Prot

Q9H223, Q9HAR1, Q9NZN2

UniProtKB/TrEMBL

A8K9B9

Related

ENSP00000220325.4, ENST00000220325.9

Conserved Domains (4) summary

smart00027
Location:441 → 534

EH; Eps15 homology domain

cd09913
Location:63 → 303

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

cd00052
Location:451 → 515

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:27 → 59

EHD_N; N-terminal EH-domain containing protein