Gene Gene information from NCBI Gene database.
Entrez ID 80176
Gene name SplA/ryanodine receptor domain and SOCS box containing 1
Gene symbol SPSB1
Synonyms (NCBI Gene)
SSB-1SSB1
Chromosome 1
Chromosome location 1p36.22
miRNA miRNA information provided by mirtarbase database.
247
miRTarBase ID miRNA Experiments Reference
MIRT017474 hsa-miR-335-5p Microarray 18185580
MIRT509604 hsa-miR-1277-5p HITS-CLIP 21572407
MIRT509603 hsa-miR-5011-5p HITS-CLIP 21572407
MIRT520963 hsa-miR-656-3p HITS-CLIP 21572407
MIRT509602 hsa-miR-567 HITS-CLIP 21572407
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
13
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 20561531, 21199876, 23455924, 25203322, 28931592, 32296183, 32814053
GO:0005737 Component Cytoplasm IEA
GO:0005829 Component Cytosol IDA 21199876
GO:0005829 Component Cytosol IEA
GO:0005829 Component Cytosol TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611657 30628 ENSG00000171621
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96BD6
Protein name SPRY domain-containing SOCS box protein 1 (SSB-1)
Protein function Substrate recognition component of a SCF-like ECS (Elongin BC-CUL2/5-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins (PubMed:15601820, PubMed:21199
PDB 2JK9 , 3F2O
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00622 SPRY 97 228 SPRY domain Family
PF07525 SOCS_box 234 272 SOCS box Domain
Sequence
Sequence length 273
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.).
9
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
ANEURYSM GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AORTIC ANEURYSM GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA 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 30929738
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Ataxia Telangiectasia Ataxia Telangiectasia BEFREE 19786574
★☆☆☆☆
Found in Text Mining only
Atrophy of testis Testicular atrophy BEFREE 23408915
★☆☆☆☆
Found in Text Mining only
Bartter Syndrome Bartter syndrome Pubtator 21937999 Associate
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 24786206, 25002612
★☆☆☆☆
Found in Text Mining only
Carcinoma, Ovarian Epithelial Ovarian Epithelial carcinoma BEFREE 30712944
★☆☆☆☆
Found in Text Mining only
Childhood asthma Asthma GWASCAT_DG 30929738
★☆☆☆☆
Found in Text Mining only
Leukemia, Myelocytic, Acute Leukemia GWASCAT_DG 27903959
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of breast Breast Cancer BEFREE 24786206, 25002612
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of ovary Ovarian cancer BEFREE 30712944
★☆☆☆☆
Found in Text Mining only