Gene Gene information from NCBI Gene database.
Entrez ID 92714
Gene name Arrestin domain containing 1
Gene symbol ARRDC1
Synonyms (NCBI Gene)
-
Chromosome 9
Chromosome location 9q34.3
miRNA miRNA information provided by mirtarbase database.
11
miRTarBase ID miRNA Experiments Reference
MIRT043649 hsa-miR-326 CLASH 23622248
MIRT800644 hsa-miR-1915 CLIP-seq
MIRT800645 hsa-miR-2467-3p CLIP-seq
MIRT800646 hsa-miR-3178 CLIP-seq
MIRT800647 hsa-miR-4436b-3p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 22315426, 23236378, 23886940, 27462458, 28514442, 32296183, 33961781, 38270169
GO:0005737 Component Cytoplasm IBA
GO:0005886 Component Plasma membrane IDA 22315426, 23236378, 27462458
GO:0005886 Component Plasma membrane IEA
GO:0006511 Process Ubiquitin-dependent protein catabolic process IMP 27462458
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
619768 28633 ENSG00000197070
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8N5I2
Protein name Arrestin domain-containing protein 1 (Alpha-arrestin 1)
Protein function Functions as an adapter recruiting ubiquitin-protein ligases to their specific substrates (PubMed:23886940, PubMed:27462458). Through an ubiquitination-dependent mechanism plays for instance a role in the incorporation of SLC11A2 into extracellu
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00339 Arrestin_N 7 139 Arrestin (or S-antigen), N-terminal domain Domain
PF02752 Arrestin_C 162 286 Arrestin (or S-antigen), C-terminal domain Domain
Sequence
MGRVQLFEISLSHGRVVYSPGEPLAGTVRVRLGAPLPFRAIRVTCIGSCGVSNKANDTAW
VVEEGYFNSSLSLADKGSLPAGEHSFPFQFLLPATAPTSFEGPFGKIVHQVRAAIHTPRF
SKDHKCSLVFYILSPLNLN
SIPDIEQPNVASATKKFSYKLVKTGSVVLTASTDLRGYVVG
QALQLHADVENQSGKDTSPVVASLLQKVSYKAKRWIHDVRTIAEVEGAGVKAWRRAQWHE
QILVPALPQSALPGCSLIHIDYYLQVSLKAPEATVTLPVFIGNIAV
NHAPVSPRPGLGLP
PGAPPLVVPSAPPQEEAEAEAAAGGPHFLDPVFLSTKSHSQRQPLLATLSSVPGAPEPCP
QDGSPASHPLHPPLCISTGATVPYFAEGSGGPVPTTSTLILPPEYSSWGYPYEAPPSYEQ
SCGGVEPSLTPES
Sequence length 433
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
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
ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATOPIC ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHILDHOOD ONSET ASTHMA GWAS catalog
★★☆☆☆
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
Asthma Asthma GWASCAT_DG 31036433
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Breast Neoplasms Breast neoplasm Pubtator 26942882 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 35300565 Associate
★☆☆☆☆
Found in Text Mining only
Childhood asthma Asthma GWASCAT_DG 31036433
★☆☆☆☆
Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma Renal Carcinoma BEFREE 29416926
★☆☆☆☆
Found in Text Mining only
Eczema Eczema GWASCAT_DG 30595370
★☆☆☆☆
Found in Text Mining only
Neoplasms Neoplasms BEFREE 29416926
★☆☆☆☆
Found in Text Mining only
Renal Cell Carcinoma Renal Carcinoma BEFREE 29416926
★☆☆☆☆
Found in Text Mining only