Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
92482
Gene name Gene Name - the full gene name approved by the HGNC.
BBSome interacting protein 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
BBIP1
Synonyms (NCBI Gene) Gene synonyms aliases
BBIP10, BBS18, NCRNA00081, bA348N5.3
Disease Acronyms (UniProt) Disease acronyms from UniProt database
BBS18
Chromosome Chromosome number
10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
10q25.2
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs1590746439 G>A Pathogenic Missense variant, stop gained, coding sequence variant, intron variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT816688 hsa-miR-106a CLIP-seq
MIRT816689 hsa-miR-106b CLIP-seq
MIRT816690 hsa-miR-1206 CLIP-seq
MIRT816691 hsa-miR-1273e CLIP-seq
MIRT816692 hsa-miR-1273f CLIP-seq
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 19081074, 22500027, 29039417
GO:0005737 Component Cytoplasm IDA 19081074
GO:0005829 Component Cytosol TAS
GO:0015031 Process Protein transport IEA
GO:0034464 Component BBSome IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
613605 28093 ENSG00000214413
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

Accession ID Position in sequence Description Type
PF14777 BBIP10 23 86 Cilia BBSome complex subunit 10 Family
Sequence
Sequence length 92
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    BBSome-mediated cargo-targeting to cilium
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Bardet-biedl syndrome Bardet-Biedl Syndrome, BARDET-BIEDL SYNDROME 18, Bardet-Biedl syndrome rs397704728, rs397515335, rs397515337, rs267607031, rs121918327, rs587777801, rs587777802, rs121918328, rs587777803, rs549625604, rs137852837, rs137852833, rs137852835, rs267606719, rs199874059
View all (560 more)
24026985
Brachydactyly Brachydactyly rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852
View all (22 more)
Cataract Cataract rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322
View all (150 more)
Cryptorchidism Cryptorchidism rs121912555, rs104894697, rs104894698, rs398122886
Unknown
Disease term Disease name Evidence References Source
Bardet-Biedl Syndrome Bardet-Biedl syndrome, Bardet-Biedl syndrome 18 GenCC
Diabetes Diabetes GWAS
Systemic lupus erythematosus Systemic lupus erythematosus GWAS
Associations from Text Mining
Disease Name Relationship Type References
Bardet Biedl Syndrome Associate 37239474
Ciliopathies Associate 32055034