ARIH1 ariadne RBR E3 ubiquitin protein ligase 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ARIH1provided by HGNC
Official Full Name: ariadne RBR E3 ubiquitin protein ligase 1provided by HGNC
Primary source: HGNC:HGNC:689
See related: Ensembl:ENSG00000166233 MIM:605624; AllianceGenome:HGNC:689
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: ARI; HARI; HHARI; UBCH7BP
Summary: Enables enzyme binding activity; ubiquitin-protein transferase activity; and zinc ion binding activity. Involved in protein ubiquitination. Located in Lewy body; cytoplasm; and nuclear body. Colocalizes with cullin-RING ubiquitin ligase complex. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in testis (RPKM 22.0), thyroid (RPKM 13.4) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 15q24.1

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	15	NC_000015.10 (72474330..72602987)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	15	NC_060939.1 (70291593..70420271)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (72766671..72895328)

Chromosome 15 - NC_000015.10 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: 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?

ARIH1 signaling promotes anti-tumor immunity by targeting PD-L1 for proteasomal degradation.
Title: ARIH1 signaling promotes anti-tumor immunity by targeting PD-L1 for proteasomal degradation.
ubiquitin-associated (UBA) domain-containing DCNL1 is monoubiquitylated when bound to CRLs and that this monoubiquitylation depends on the CRL-associated Ariadne RBR ligases TRIAD1 (ARIH2) and HHARI (ARIH1) and strictly requires the DCNL1's UBA domain.
Title: Coupled monoubiquitylation of the co-E3 ligase DCNL1 by Ariadne-RBR E3 ubiquitin ligases promotes cullin-RING ligase complex remodeling.
ARIH1-mediated mitophagy promotes therapeutic resistance.
Title: Parkin-Independent Mitophagy Controls Chemotherapeutic Response in Cancer Cells.
Variants in ARIH1 are associated with developing aortic aneurysms.
Title: Ari-1 Regulates Myonuclear Organization Together with Parkin and Is Associated with Aortic Aneurysms.
Crystal structure of HHARI and UbcH7 reveals UbcH7 approximately Ub binding RING1 domain of auto-inhibited HHARI.HHARI UBA-L domain has Ub binding properties.
Title: Structural Studies of HHARI/UbcH7∼Ub Reveal Unique E2∼Ub Conformational Restriction by RBR RING1.
HHARI prevents spurious discharge of Ub from E2 to lysine residues by harboring structural elements that block E2 ~ Ub from adopting a 'closed' conformation.
Title: Structural insights into the mechanism and E2 specificity of the RBR E3 ubiquitin ligase HHARI.
DNA damage induces an increase in ARIH1 protein levels and association of ARIH1 with 4EHP. In turn, this causes 4EHP recruitment to the mRNA cap, where it is known to compete with eIF4E.
Title: The E3 ubiquitin ligase ARIH1 protects against genotoxic stress by initiating a 4EHP-mediated mRNA translation arrest.
Determined is the three-dimensional solution structure of the catalytic RING2 domain from HHARI. It shows glimpses of a HECT E3 ligase.
Title: Structure of the HHARI catalytic domain shows glimpses of a HECT E3 ligase.
TRIAD1 and HHARI bind to and are activated by distinct neddylated Cullin-RING ligase complexes.
Title: TRIAD1 and HHARI bind to and are activated by distinct neddylated Cullin-RING ligase complexes.
HHARI is a marker of cellular proliferation associated with nuclear bodies.
Title: Human Homolog of Drosophila Ariadne (HHARI) is a marker of cellular proliferation associated with nuclear bodies.

Submit: New GeneRIF Correction See all GeneRIFs (13)

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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-36787 (e-PCR)
- UniSTS:22287

ARIH1_702 (e-PCR)
- UniSTS:277015

RH93460 (e-PCR)
- UniSTS:85061

RH77925 (e-PCR)
- UniSTS:39533

D2S1933E (e-PCR)
- UniSTS:153718

SHGC-34211 (e-PCR)
- UniSTS:45552

A004P07 (e-PCR)
- UniSTS:1522

RH47216 (e-PCR)
- UniSTS:18426

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin conjugating enzyme binding	IBA Inferred from Biological aspect of Ancestor more info
enables ubiquitin conjugating enzyme binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin protein ligase activity	IBA Inferred from Biological aspect of Ancestor more info
enables ubiquitin protein ligase binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin-like protein transferase activity	TAS Traceable Author Statement more info	PubMed
enables ubiquitin-protein transferase activity	IDA Inferred from Direct Assay more info	PubMed
enables ubiquitin-protein transferase activity	TAS Traceable Author Statement more info
enables zinc ion binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in PKR/eIFalpha signaling	TAS Traceable Author Statement more info
involved_in protein polyubiquitination	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein ubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in ubiquitin-dependent protein catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in ubiquitin-dependent protein catabolic process	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in Cajal body	IEA Inferred from Electronic Annotation more info
NOT part_of Cul2-RING ubiquitin ligase complex	IDA Inferred from Direct Assay more info	PubMed
part_of Cul2-RING ubiquitin ligase complex	IDA Inferred from Direct Assay more info	PubMed
part_of Cul3-RING ubiquitin ligase complex	IDA Inferred from Direct Assay more info	PubMed
part_of Cul4A-RING E3 ubiquitin ligase complex	IDA Inferred from Direct Assay more info	PubMed
located_in Lewy body	IDA Inferred from Direct Assay more info	PubMed
part_of SCF ubiquitin ligase complex	IDA Inferred from Direct Assay more info	PubMed
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 cytosol	TAS Traceable Author Statement more info
located_in nuclear body	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
part_of ubiquitin ligase complex	IBA Inferred from Biological aspect of Ancestor more info
part_of ubiquitin ligase complex	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: E3 ubiquitin-protein ligase ARIH1

Names: ARI-1; H7-AP2; MOP-6; ariadne homolog, ubiquitin-conjugating enzyme E2 binding protein, 1; ariadne, Drosophila, homolog of; monocyte protein 6; protein ariadne-1 homolog; ubcH7-binding protein; ubcM4-interacting protein; ubiquitin-conjugating enzyme E2-binding protein 1

NP_005735.2

EC 2.3.2.31

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_005744.5 → NP_005735.2 E3 ubiquitin-protein ligase ARIH1

See identical proteins and their annotated locations for NP_005735.2

Status: VALIDATED

Source sequence(s)

AC079322, AC100827

Consensus CDS

CCDS10244.1

UniProtKB/Swiss-Prot

B2R6U3, O76026, Q9H3T6, Q9UEN0, Q9UP39, Q9Y4X5

Related

ENSP00000369217.4, ENST00000379887.9

Conserved Domains (3) summary

smart00647
Location:257 → 317

IBR; In Between Ring fingers

cd16626
Location:185 → 242

RING-HC_RBR_HHARI; RING finger, HC subclass, found in human homolog of Drosophila ariadne (HHARI) and similar proteins

pfam01485
Location:339 → 379

IBR; IBR domain, a half RING-finger domain