AutismKB 2.0

Annotation Details for BBS1


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Basic Information Top
Gene Symbol:BBS1 ( BBS2L2,FLJ23590,MGC126183,MGC126184,MGC51114 )
Gene Full Name: Bardet-Biedl syndrome 1
Band: 11q13.2
Quick LinksEntrez ID:582; OMIM: 209901; Uniprot ID:BBS1_HUMAN; ENSEMBL ID: ENSG00000174483; HGNC ID: 966
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005813IDA-centrosome18762586
GO:0005829TAS-cytosol-
GO:0005930IBA-axoneme-
GO:0034464IDA-BBSome17574030
GO:0036064IBA-ciliary basal body-
GO:0060170IEA-ciliary membrane-
GO ID Evidence Qualifier GO_term References
GO:0001103IPI-RNA polymerase II repressing transcription factor binding22302990
GO:0005113IPI-patched binding22228099
GO:0005119IPI-smoothened binding22228099
GO:0005515IPI-protein binding16327777
GO ID Evidence Qualifier GO_term References
GO:0001895IMP-retina homeostasis17980398
GO:0007601IEA-visual perception-
GO:0043001IMP-Golgi to plasma membrane protein transport19150989
GO:0045494IMP-photoreceptor cell maintenance17980398
GO:0050896IEA-response to stimulus-
GO:0060271IMP-cilium assembly17574030
GO:0061512IMP-protein localization to cilium23943788
GO:1905515IMP-non-motile cilium assembly17980398
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
OSBPL10BBS112538519615732 Affinity Capture-MS
OSBPL10BBS110705819615732 Affinity Capture-MS
KEAP1BBS110705819615732 Affinity Capture-MS
KEAP1BBS111515619615732 Affinity Capture-MS
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1277215
  • Data Attributes: HomoloGene calculated
SELECT * FROM lijr_20110218_zfin_genotype_phenotype WHERE ZFIN_Gene_ID='ZDB-GENE-060126-1'