BBIP1 (BBSome interacting protein 1)
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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92482 |
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Gene name
Gene Name - the full gene name approved by the HGNC.
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BBSome interacting protein 1 |
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Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
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BBIP1 |
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Synonyms (NCBI Gene)
Gene synonyms aliases
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BBIP10, BBS18, NCRNA00081, bA348N5.3 |
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Chromosome
Chromosome number
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10 |
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Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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10q25.2 |
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Summary
Summary of gene provided in NCBI Entrez Gene.
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This gene encodes one of eight proteins that form the BBSome complex and is essential for its assembly. The BBSome complex is involved in trafficking signal receptors to and from the cilia. Mutations in this gene result in Bardet-Biedl syndrome 18. Altern |
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SNPs
SNP information provided by dbSNP.
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miRNA
miRNA information provided by mirtarbase database.
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Gene ontology (GO)
Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDs
Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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| Protein | |||||||||||
| UniProt ID | A8MTZ0 | ||||||||||
| Protein name | BBSome-interacting protein 1 (BBSome-interacting protein of 10 kDa) | ||||||||||
| Protein function | The BBSome complex is thought to function as a coat complex required for sorting of specific membrane proteins to the primary cilia. The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function. This cilio | ||||||||||
| PDB | 6XT9 | ||||||||||
| Family and domains |
Pfam
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| Sequence |
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| Sequence length | 92 | ||||||||||
| Interactions | View interactions | ||||||||||
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Pathways
Pathway information has different metabolic/signaling pathways associated with genes.
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Associated diseases
Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
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