ARRDC4 arrestin domain containing 4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ARRDC4provided by HGNC
Official Full Name: arrestin domain containing 4provided by HGNC
Primary source: HGNC:HGNC:28087
See related: Ensembl:ENSG00000140450 MIM:619788; AllianceGenome:HGNC:28087
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
Summary: Enables ubiquitin-like ligase-substrate adaptor activity. Involved in positive regulation of interferon-beta production and protein K63-linked ubiquitination. Acts upstream of or within positive regulation of ubiquitin-protein transferase activity. Located in endosome and plasma membrane. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in skin (RPKM 18.0), colon (RPKM 14.4) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 15q26.2

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	15	NC_000015.10 (97960703..97973833)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	15	NC_060939.1 (95726358..95739492)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (98503933..98517063)

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: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Identification of HDAC9 and ARRDC4 as potential biomarkers and targets for treatment of type 2 diabetes.
Title: Identification of HDAC9 and ARRDC4 as potential biomarkers and targets for treatment of type 2 diabetes.
data highlight new function of ARRDC4 in innate immunity, contributing to the better understanding about regulation of MDA5 activation after EV71 infection, and also suggest ARRDC4 may serve as a potential target for intervention of EV71-induced inflammatory response.
Title: ARRDC4 regulates enterovirus 71-induced innate immune response by promoting K63 polyubiquitination of MDA5 through TRIM65.
Txnip regulates cellular metabolism independent of its binding to thioredoxin and the arrestin domains are crucial structural elements in metabolic functions of alpha-arrestin proteins
Title: Thioredoxin-independent regulation of metabolism by the alpha-arrestin proteins.
identification of variants in the ARRDC4 coding region; seven variants were identified; fifteen haplotypes were inferred; haplotypes form two clades
Title: An anomalous haplotype distribution of the arrestin domain-containing 4 gene (ARRDC4) haplotypes in Caucasians.

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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

EBI GWAS Catalog

Description
A genome-wide association study of neuroticism in a population-based sample. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genes linked to energy metabolism and immunoregulatory mechanisms are associated with subcutaneous adipose tissue distribution in HIV-infected men. 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)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of arrestin domain containing 4 (ARRDC4) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells	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

D15S1330 (e-PCR)
- UniSTS:39700

ARRDC4 (e-PCR)
- UniSTS:503088

A008T31 (e-PCR)
- UniSTS:68818

A002R32 (e-PCR)
- UniSTS:1492

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin-like ligase-substrate adaptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables ubiquitin-like ligase-substrate adaptor activity	IDA Inferred from Direct Assay more info	PubMed
enables ubiquitin-like ligase-substrate adaptor activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in extracellular vesicle biogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of interferon-beta production	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within positive regulation of ubiquitin-protein transferase activity	IPI Inferred from Physical Interaction more info	PubMed
involved_in protein K63-linked ubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in protein transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein ubiquitination	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
is_active_in cytoplasm	IC Inferred by Curator more info	PubMed
located_in early endosome	IEA Inferred from Electronic Annotation more info
located_in endosome	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular vesicle	ISS Inferred from Sequence or Structural Similarity more info
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
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

General protein information

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Preferred Names: arrestin domain-containing protein 4

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.