AREL1 (apoptosis resistant E3 ubiquitin protein ligase 1)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 9870
Gene name Apoptosis resistant E3 ubiquitin protein ligase 1
Gene symbol AREL1
Synonyms (NCBI Gene)
FIEL1KIAA0317
Chromosome 14
Chromosome location 14q24.3
miRNA miRNA information provided by mirtarbase database.
136
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (136)
miRTarBase ID miRNA Experiments Reference
MIRT016243 hsa-miR-548b-3p Sequencing 20371350
MIRT016609 hsa-miR-193b-3p Microarray 20304954
MIRT626037 hsa-miR-100-3p HITS-CLIP 23824327
MIRT280167 hsa-miR-1470 HITS-CLIP 23824327
MIRT380488 hsa-miR-4667-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
22
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (22)
GO ID Ontology Definition Evidence Reference
GO:0004842 Function Ubiquitin-protein transferase activity IDA 23479728
GO:0004842 Function Ubiquitin-protein transferase activity IEA
GO:0005515 Function Protein binding IPI 23479728, 31578312
GO:0005737 Component Cytoplasm IBA
GO:0005829 Component Cytosol IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
615380 20363 ENSG00000119682
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O15033
Protein name Apoptosis-resistant E3 ubiquitin protein ligase 1 (EC 2.3.2.26) (Apoptosis-resistant HECT-type E3 ubiquitin transferase 1)
Protein function E3 ubiquitin-protein ligase that catalyzes 'Lys-11'- or 'Lys-33'-linked polyubiquitin chains, with some preference for 'Lys-33' linkages (PubMed:25752577). E3 ubiquitin-protein ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in
PDB 6JX5 , 6LOH
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00630 Filamin 54 → 155 Filamin/ABP280 repeat Domain
PF00632 HECT 512 → 823 HECT-domain (ubiquitin-transferase) Domain
Sequence 
MFYVIGGITVSVVAFFFTIKFLFELAARVVSFLQNEDRERRGDRTIYDYVRGNYLDPRSC
KVSWDWKDPYEVGHSMAFRVHLFYKNGQPFPAHRPVGLRVHISHVELAVEIPVTQEVLQE
PNSNVVKVAFTVRKAGRYEITVKLGGLNVAYSPYYKIFQPGMVVPSKTKIVCHFSTLVLT
CGQPHTLQIVPRDEYDNPTNNSMSLRDEHNYTLSIHELGPQEEESTGVSFEKSVTSNRQT
FQVFLRLTLHSRGCFHACISYQNQPINNGEFDIIVLSEDEKNIVERNVSTSGVSIYFEAY
LYNATNCSSTPWHLPPMHMTSSQRRPSTAVDEEDEDSPSECHTPEKVKKPKKVYCYVSPK
QFSVKEFYLKIIPWRLYTFRVCPGTKFSYLGPDPVHKLLTLVVDDGIQPPVELSCKERNI
LAATFIRSLHKNIGGSETFQDKVNFFQRELRQVHMKRPHSKVTLKVSRHALLESSLKATR
NFSISDWSKNFEVVFQDEEALDWGGPRREWFELICKALFDTTNQLFTRFSDNNQALVHPN
PNRPAHLRLKMYEFAGRLVGKCLYESSLGGAYKQLVRARFTRSFLAQIIGLRMHYKYFET
DDPEFYKSKVCFILNNDMSEMELVFAEEKYNKSGQLDKVVELMTGGAQTPVTNANKIFYL
NLLAQYRLASQVKEEVEHFLKGLNELVPENLLAIFDENELELLMCGTGDISVSDFKAHAV
VVGGSWHFREKVMRWFWTVVSSLTQEELARLLQFTTGSSQLPPGGFAALCPSFQIIAAPT
HSTLPTAHTCFNQLCLPTYDSYEEVHRMLQLAISEGCEGFGML
Sequence length 823
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Antigen processing: Ubiquitination & Proteasome degradation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
12
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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)
Show/Hide Unknown Diseases (12)
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
BIPOLAR DISORDER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GLAUCOMA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Lung cancer Uncertain significance ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (8)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Anxiety Anxiety Disorder GWASCAT_DG 29942085
★★★★★
★☆☆☆☆
Found in Text Mining only
Idiopathic Pulmonary Fibrosis Pulmonary Fibrosis BEFREE 27162139
★★★★★
★☆☆☆☆
Found in Text Mining only
Lung Neoplasms Lung neoplasms Pubtator 25045014 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Major Depressive Disorder Mental Depression GWASCAT_DG 29942085, 30718901
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Malignant Neoplasms Malignant Neoplasm BEFREE 31732561
★★★★★
★☆☆☆☆
Found in Text Mining only
Mood Disorders Mood Disorder GWASCAT_DG 29942085
★★★★★
★☆☆☆☆
Found in Text Mining only
Multiple System Atrophy Multiple system atrophy Pubtator 32151281 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Small Cell Lung Carcinoma Small cell lung carcinoma Pubtator 25045014 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only