Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
80176
Gene name Gene Name - the full gene name approved by the HGNC.
SplA/ryanodine receptor domain and SOCS box containing 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SPSB1
Synonyms (NCBI Gene) Gene synonyms aliases
SSB-1, SSB1
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p36.22
miRNA miRNA information provided by mirtarbase database.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
611657 30628 ENSG00000171621
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Asthma Asthma (childhood onset), Age of onset of childhood onset asthma, Asthma N/A N/A GWAS
Dental caries Dental caries N/A N/A GWAS
Dermatitis Atopic dermatitis N/A N/A GWAS
Eczema Eczema N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Bartter Syndrome Associate 21937999
Cytomegalovirus Infections Associate 30310119
Neoplasms Associate 34397405
Nonsyndromic sensorineural hearing loss Associate 21937999
Venous Thromboembolism Associate 31420334