ARRDC3 arrestin domain containing 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ARRDC3provided by HGNC
Official Full Name: arrestin domain containing 3provided by HGNC
Primary source: HGNC:HGNC:29263
See related: Ensembl:ENSG00000113369 MIM:612464; AllianceGenome:HGNC:29263
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: TLIMP
Summary: This gene encodes a member of the arrestin family of proteins, which regulate G protein-mediated signaling. The encoded protein is thought to act as a regulator of breast cancer growth and progression by binding to a phosphorylated form of integrin beta4, a tumor-related antigen, targeting the integrin for internalization and degradation. [provided by RefSeq, Jul 2016]
Expression: Ubiquitous expression in bone marrow (RPKM 76.9), thyroid (RPKM 64.6) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 5q14.3

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (91368631..91383317, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (91852479..91867169, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (90664448..90679134, complement)

Chromosome 5 - NC_000005.10 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
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?

ARRDC3 regulates the targeted therapy sensitivity of clear cell renal cell carcinoma by promoting AXL degradation.
Title: ARRDC3 regulates the targeted therapy sensitivity of clear cell renal cell carcinoma by promoting AXL degradation.
Hsa_circ_0001740 mediates trophoblast cell function via regulating miR-188-3p/ARRDC3.
Title: Hsa_circ_0001740 mediates trophoblast cell function via regulating miR-188-3p/ARRDC3.
ARRDC3 polymorphisms may affect the risk of glioma in Chinese Han.
Title: ARRDC3 polymorphisms may affect the risk of glioma in Chinese Han.
alpha-Arrestin ARRDC3 tumor suppressor function is linked to GPCR-induced TAZ activation and breast cancer metastasis.
Title: α-Arrestin ARRDC3 tumor suppressor function is linked to GPCR-induced TAZ activation and breast cancer metastasis.
Arrestin domain containing 3 promotes Helicobacter pylori-associated gastritis by regulating protease-activated receptor 1.
Title: Arrestin domain containing 3 promotes Helicobacter pylori-associated gastritis by regulating protease-activated receptor 1.
Upregulated ARRDC3 limits trophoblast cell invasion and tube formation and is associated with preeclampsia.
Title: Upregulated ARRDC3 limits trophoblast cell invasion and tube formation and is associated with preeclampsia.
Authors identified miR-200b as a major target gene of ARRDC3. miR-200b played an essential role in mediating ARRDC3 dependent reversal of EMT phenotypes and chemo-resistance to DNA damaging agents in TNBC cells. Expression of miR-200b also increased the expression of ARRDC3 as well in TNBC cells, suggesting a positive feedback loop between these two molecules.
Title: Arrestin Domain Containing 3 Reverses Epithelial to Mesenchymal Transition and Chemo-Resistance of TNBC Cells by Up-Regulating Expression of miR-200b.
Study observed that the depletion of ARRDC3 in human hepatocytes resulted in the downregulation of inflammasome pathway-associated genes and the enhancement of apoptosis of hepatic stellate cells treated with their conditioned media. Results demonstrated ARRDC3 may play a role in the development of non-alcoholic fatty liver disease and non-alcoholic steatohepatitis.
Title: Possible association of arrestin domain-containing protein 3 and progression of non-alcoholic fatty liver disease.
ARRDC3 is involved in the infectious entry of human papillomavirus into the cell
Title: Genome-wide association study of cervical cancer suggests a role for ARRDC3 gene in human papillomavirus infection.
a critical link between the tumor suppressor ARRDC3 and regulation of GPCR trafficking and signaling in breast cancer
Title: The α-arrestin ARRDC3 suppresses breast carcinoma invasion by regulating G protein-coupled receptor lysosomal sorting and signaling.

Submit: New GeneRIF Correction See all GeneRIFs (26)

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
Genome-wide association analysis in East Asians identifies breast cancer susceptibility loci at 1q32.1, 5q14.3 and 15q26.1. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women. EBI GWAS Catalog EBI GWAS CatalogPubMed
Identification of inherited genetic variations influencing prognosis in early-onset breast cancer. 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

STS-R33609 (e-PCR)
- UniSTS:60030

Bdy70c06 (e-PCR)
- UniSTS:56806

D5S1593E (e-PCR)
- UniSTS:151016

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables beta-3 adrenergic receptor binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in fat pad development	IEA Inferred from Electronic Annotation more info
involved_in heat generation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of adenylate cyclase-activating adrenergic receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of cold-induced thermogenesis	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in negative regulation of heat generation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of locomotion involved in locomotory behavior	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of hippo signaling	IMP Inferred from Mutant Phenotype 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 transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in skin development	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in early endosome	IEA Inferred from Electronic Annotation more info
is_active_in endosome	IBA Inferred from Biological aspect of Ancestor more info
located_in endosome	IDA Inferred from Direct Assay more info	PubMed
located_in lysosome	IEA Inferred from Electronic Annotation 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 3

Names: TBP-2-like inducible membrane protein; alpha-arrestin 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.

Genomic

NG_051241.1 RefSeqGene

Range

5057..19743

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001329670.2 → NP_001316599.1 arrestin domain-containing protein 3 isoform b

Status: REVIEWED

Description

Transcript Variant: Variants 2, 3 and 4 encode the same isoform (b).

Source sequence(s)

AC008799

Conserved Domains (1) summary

smart01017
Location:5 → 94

Arrestin_C; Arrestin (or S-antigen), C-terminal domain
NM_001329671.2 → NP_001316600.1 arrestin domain-containing protein 3 isoform b

Status: REVIEWED

Description

Transcript Variant: Variants 2, 3 and 4 encode the same isoform (b).

Source sequence(s)

AC008799

Conserved Domains (1) summary

smart01017
Location:5 → 94

Arrestin_C; Arrestin (or S-antigen), C-terminal domain
NM_001329672.2 → NP_001316601.1 arrestin domain-containing protein 3 isoform b

Status: REVIEWED

Description

Transcript Variant: Variants 2, 3 and 4 encode the same isoform (b).

Source sequence(s)

AC008799

Conserved Domains (1) summary

smart01017
Location:5 → 94

Arrestin_C; Arrestin (or S-antigen), C-terminal domain
NM_020801.4 → NP_065852.1 arrestin domain-containing protein 3 isoform a

See identical proteins and their annotated locations for NP_065852.1

Status: REVIEWED

Source sequence(s)

AB037797, AC008799, BX642781, HY355442

Consensus CDS

CCDS34202.1

UniProtKB/Swiss-Prot

A8K6T8, Q96B67, Q9P2H1

Related

ENSP00000265138.3, ENST00000265138.4

Conserved Domains (2) summary

smart01017
Location:187 → 314

Arrestin_C; Arrestin (or S-antigen), C-terminal domain

pfam00339
Location:22 → 165

Arrestin_N; Arrestin (or S-antigen), N-terminal domain