Gene Gene information from NCBI Gene database.
Entrez ID 51665
Gene name Ankyrin repeat and SOCS box containing 1
Gene symbol ASB1
Synonyms (NCBI Gene)
ASB-1
Chromosome 2
Chromosome location 2q37.3
Summary The protein encoded by this gene contains an ankyrin repeat sequence and SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, targeting them for ubiqu
miRNA miRNA information provided by mirtarbase database.
631
miRTarBase ID miRNA Experiments Reference
MIRT019090 hsa-miR-335-5p Microarray 18185580
MIRT028094 hsa-miR-93-5p Sequencing 20371350
MIRT047705 hsa-miR-10a-5p CLASH 23622248
MIRT041052 hsa-miR-505-3p CLASH 23622248
MIRT205874 hsa-miR-548az-5p PAR-CLIP 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
14
GO ID Ontology Definition Evidence Reference
GO:0000151 Component Ubiquitin ligase complex IBA
GO:0000151 Component Ubiquitin ligase complex IDA 16325183
GO:0001818 Process Negative regulation of cytokine production NAS 11111040
GO:0005515 Function Protein binding IPI 16325183, 21145461, 28514442, 32814053, 33961781
GO:0005737 Component Cytoplasm IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605758 16011 ENSG00000065802
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9Y576
Protein name Ankyrin repeat and SOCS box protein 1 (ASB-1)
Protein function Probable substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins (PubMed:16325183). Mediates Notch-induced
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12796 Ank_2 41 141 Ankyrin repeats (3 copies) Repeat
PF12796 Ank_2 106 174 Ankyrin repeats (3 copies) Repeat
PF07525 SOCS_box 296 334 SOCS box Domain
Sequence
MAEGGSPDGRAGPGSAGRNLKEWLREQFCDHPLEHCEDTRLHDAAYVGDLQTLRSLLQEE
SYRSRINEKSVWCCGWLPCTPLRIAATAGHGSCVDFLIRKGAEVD
LVDVKGQTALYVAVV
NGHLESTQILLEAGADPNGSR
HHRSTPVYHASRVGRADILKALIRYGADVDVNH
HLTPDV
QPRFSRRLTSLVVCPLYISAAYHNLQCFRLLLLAGANPDFNCNGPVNTQGFYRGSPGCVM
DAVLRHGCEAAFVSLLVEFGANLNLVKWESLGPESRGRRKVDPEALQVFKEARSVPRTLL
CLCRVAVRRALGKHRLHLIPSLPLPDPIKKFLLH
E
Sequence length 335
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Neddylation
Antigen processing: Ubiquitination & Proteasome degradation
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
ASTROCYTOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME 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
Anxiety Anxiety Disorder BEFREE 28540928
★☆☆☆☆
Found in Text Mining only
Anxiety Disorders Anxiety Disorder BEFREE 28540928
★☆☆☆☆
Found in Text Mining only
Cardiomyopathies Cardiomyopathy Pubtator 29667349 Associate
★☆☆☆☆
Found in Text Mining only
Heart Failure Heart failure Pubtator 35128826 Associate
★☆☆☆☆
Found in Text Mining only
Ischemic cardiomyopathy Ischemic myocardial dysfunction BEFREE 29667349
★☆☆☆☆
Found in Text Mining only
Nasopharyngeal Carcinoma Nasopharyngeal carcinoma Pubtator 16308470 Associate
★☆☆☆☆
Found in Text Mining only