Gene Gene information from NCBI Gene database.
Entrez ID 25820
Gene name Ariadne RBR E3 ubiquitin protein ligase 1
Gene symbol ARIH1
Synonyms (NCBI Gene)
ARIHARIHHARIUBCH7BP
Chromosome 15
Chromosome location 15q24.1
miRNA miRNA information provided by mirtarbase database.
1134
miRTarBase ID miRNA Experiments Reference
MIRT051051 hsa-miR-17-5p CLASH 23622248
MIRT039312 hsa-miR-425-5p CLASH 23622248
MIRT624662 hsa-miR-6776-3p HITS-CLIP 23824327
MIRT660530 hsa-miR-5003-3p HITS-CLIP 23824327
MIRT624661 hsa-miR-501-5p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
37
GO ID Ontology Definition Evidence Reference
GO:0000151 Component Ubiquitin ligase complex IBA
GO:0000151 Component Ubiquitin ligase complex TAS 10521492
GO:0004842 Function Ubiquitin-protein transferase activity IDA 14623119, 15236971, 21532592, 23707686, 24076655, 27565346
GO:0004842 Function Ubiquitin-protein transferase activity IEA
GO:0004842 Function Ubiquitin-protein transferase activity TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605624 689 ENSG00000166233
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9Y4X5
Protein name E3 ubiquitin-protein ligase ARIH1 (EC 2.3.2.31) (H7-AP2) (HHARI) (Monocyte protein 6) (MOP-6) (Protein ariadne-1 homolog) (ARI-1) (UbcH7-binding protein) (UbcM4-interacting protein) (Ubiquitin-conjugating enzyme E2-binding protein 1)
Protein function E3 ubiquitin-protein ligase, which catalyzes ubiquitination of target proteins together with ubiquitin-conjugating enzyme E2 UBE2L3 (PubMed:15236971, PubMed:21532592, PubMed:23707686, PubMed:24076655, PubMed:27565346). Acts as an atypical E3 ubi
PDB 1WD2 , 2M9Y , 4KBL , 4KC9 , 5TTE , 5UDH , 7B5L , 7B5M , 7B5N , 7B5S
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01485 IBR 256 317 IBR domain, a half RING-finger domain Domain
PF01485 IBR 322 389 IBR domain, a half RING-finger domain Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:10521492}.
Sequence
MDSDEGYNYEFDEDEECSEEDSGAEEEEDEDDDEPDDDTLDLGEVELVEPGLGVGGERDG
LLCGETGGGGGSALGPGGGGGGGGGGGGGGPGHEQEEDYRYEVLTAEQILQHMVECIREV
NEVIQNPATITRILLSHFNWDKEKLMERYFDGNLEKLFAECHVINPSKKSRTRQMNTRSS
AQDMPCQICYLNYPNSYFTGLECGHKFCMQCWSEYLTTKIMEEGMGQTISCPAHGCDILV
DDNTVMRLITDSKVKLKYQHLITNSFVECNRLLKWCPAPDCHHVVKVQYPDAKPVRCKCG
RQFCFNCGENWHDPVKC
KWLKKWIKKCDDDSETSNWIAANTKECPKCHVTIEKDGGCNHM
VCRNQNCKAEFCWVCLGPWEPHGSAWYNC
NRYNEDDAKAARDAQERSRAALQRYLFYCNR
YMNHMQSLRFEHKLYAQVKQKMEEMQQHNMSWIEVQFLKKAVDVLCQCRATLMYTYVFAF
YLKKNNQSIIFENNQADLENATEVLSGYLERDISQDSLQDIKQKVQDKYRYCESRRRVLL
QHVHEGYEKDLWEYIED
Sequence length 557
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Mitophagy - animal   ISG15 antiviral mechanism
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
7
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Aortic aneurysm association; Uncertain significance ClinVar
Disgenet
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
ARIH1-related disorder Uncertain significance; Benign; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Familial thoracic aortic aneurysm and aortic dissection Benign; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 28930681
★☆☆☆☆
Found in Text Mining only
Alopecia Alopecia BEFREE 31190484
★☆☆☆☆
Found in Text Mining only
Aortic Aneurysm Aortic Aneurysm BEFREE 29689197
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Asthma Asthma BEFREE 29447223, 7875787
★☆☆☆☆
Found in Text Mining only
Atrial Fibrillation Atrial Fibrillation BEFREE 28681121
★☆☆☆☆
Found in Text Mining only
Benign Prostatic Hyperplasia Benign Prostatic Hyperplasia BEFREE 28295443, 29568063, 30480763, 30681264, 30883989, 31058923, 31190484, 31710001
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 40004017 Associate
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 28615266
★☆☆☆☆
Found in Text Mining only
Coronary Artery Disease Coronary artery disease BEFREE 30575882
★☆☆☆☆
Found in Text Mining only
Coronary heart disease Coronary Heart Disease BEFREE 30575882
★☆☆☆☆
Found in Text Mining only