Gene Gene information from NCBI Gene database.
Entrez ID 55108
Gene name BSD domain containing 1
Gene symbol BSDC1
Synonyms (NCBI Gene)
-
Chromosome 1
Chromosome location 1p35.1
miRNA miRNA information provided by mirtarbase database.
643
miRTarBase ID miRNA Experiments Reference
MIRT028185 hsa-miR-33a-5p Sequencing 20371350
MIRT052522 hsa-let-7a-5p CLASH 23622248
MIRT051800 hsa-let-7c-5p CLASH 23622248
MIRT051490 hsa-let-7e-5p CLASH 23622248
MIRT039818 hsa-miR-615-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
2
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 30614533, 32296183
GO:0005737 Component Cytoplasm IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
617518 25501 ENSG00000160058
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NW68
Protein name BSD domain-containing protein 1
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03909 BSD 146 203 BSD domain Domain
Sequence
MAEGEDVGWWRSWLQQSYQAVKEKSSEALEFMKRDLTEFTQVVQHDTACTIAATASVVKE
KLATEGSSGATEKMKKGLSDFLGVISDTFAPSPDKTIDCDVITLMGTPSGTAEPYDGTKA
RLYSLQSDPATYCNEPDGPPELFDAWLSQFCLEEKKGEISELLVGSPSIRALYTKMVPAA
VSHSEFWHRYFYKVHQLEQEQAR
RDALKQRAEQSISEEPGWEEEEEELMGISPISPKEAK
VPVAKISTFPEGEPGPQSPCEENLVTSVEPPAEVTPSESSESISLVTQIANPATAPEARV
LPKDLSQKLLEASLEEQGLAVDVGETGPSPPIHSKPLTPAGHTGGPEPRPPARVETLREE
APTDLRVFELNSDSGKSTPSNNGKKGSSTDISEDWEKDFDLDMTEEEVQMALSKVDASGE
LEDVEWEDWE
Sequence length 430
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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
INSOMNIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations