Gene Gene information from NCBI Gene database.
Entrez ID 92482
Gene name BBSome interacting protein 1
Gene symbol BBIP1
Synonyms (NCBI Gene)
BBIP10BBS18NCRNA00081bA348N5.3
Chromosome 10
Chromosome location 10q25.2
Summary 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.
1
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.
484
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
26
GO ID Ontology Definition Evidence Reference
GO:0001776 Process Leukocyte homeostasis IEA
GO:0001782 Process B cell homeostasis IEA
GO:0002260 Process Lymphocyte homeostasis IEA
GO:0002262 Process Myeloid cell homeostasis IEA
GO:0005515 Function Protein binding IPI 19081074, 22500027, 29039417
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
613605 28093 ENSG00000214413
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
14
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Bardet-Biedl syndrome 1 Pathogenic rs515726134 RCV000114318
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Bardet-Biedl syndrome 18 Pathogenic rs515726134 RCV000114434
★★★★☆
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
BARDET-BIEDL SYNDROME Disgenet, GWAS catalog, Orphanet
Disgenet, GWAS catalog, Orphanet
Disgenet, GWAS catalog, Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BBIP1-related disorder Uncertain significance; Conflicting classifications of pathogenicity; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MICROPENIS Disgenet
★★☆☆☆
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
Bardet-Biedl Syndrome Bardet-Biedl Syndrome BEFREE 24026985
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Bardet-Biedl Syndrome Bardet-Biedl Syndrome ORPHANET_DG 24026985
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Bardet-Biedl syndrome Bardet-Biedl Syndrome Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Bardet-Biedl Syndrome Bardet-Biedl Syndrome CLINVAR_DG
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BARDET-BIEDL SYNDROME 18 Bardet-Biedl Syndrome GENOMICS_ENGLAND_DG 24026985
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
BARDET-BIEDL SYNDROME 18 Bardet-Biedl Syndrome CLINVAR_DG
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
BARDET-BIEDL SYNDROME 18 Bardet-Biedl Syndrome CTD_human_DG
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Brachydactyly Brachydactyly HPO_DG
★☆☆☆☆
Found in Text Mining only
Cataract Cataract HPO_DG
★☆☆☆☆
Found in Text Mining only
Ciliopathies Ciliopathy Pubtator 32055034 Associate
★☆☆☆☆
Found in Text Mining only