GO_REF:0000002
Gene Ontology annotation through association of InterPro records with GO terms
GO_REF:0000024
Manual transfer of experimentally-verified manual GO annotation data to orthologs by curator judgment of sequence similarity
GO_REF:0000033
Annotation inferences using phylogenetic trees
GO_REF:0000044
Gene Ontology annotation based on UniProtKB/Swiss-Prot Subcellular Location vocabulary mapping, accompanied by conservative changes to GO terms applied by UniProt
GO_REF:0000052
Gene Ontology annotation based on curation of immunofluorescence data
GO_REF:0000107
Automatic transfer of experimentally verified manual GO annotation data to orthologs using Ensembl Compara
GO_REF:0000117
Electronic Gene Ontology annotations created by ARBA machine learning models
GO_REF:0000120
Combined Automated Annotation using Multiple IEA Methods
PMID:10802661
Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome.
PMID:16327777
Dissection of epistasis in oligogenic Bardet-Biedl syndrome.
PMID:18762586
Recruitment of PCM1 to the centrosome by the cooperative action of DISC1 and BBS4: a candidate for psychiatric illnesses.
PMID:20080638
BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly.
PMID:22302990
Direct role of Bardet-Biedl syndrome proteins in transcriptional regulation.
PMID:22446187
Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis.
PMID:22500027
Intrinsic protein-protein interaction-mediated and chaperonin-assisted sequential assembly of stable bardet-biedl syndrome protein complex, the BBSome.
PMID:26900326
A novel H395R mutation in MKKS/BBS6 causes retinitis pigmentosa and polydactyly without other findings of Bardet-Biedl or McKusick-Kaufman syndrome.
PMID:28514442
Architecture of the human interactome defines protein communities and disease networks.
PMID:28753627
Nuclear/cytoplasmic transport defects in BBS6 underlie congenital heart disease through perturbation of a chromatin remodeling protein.
PMID:32296183
A reference map of the human binary protein interactome.
PMID:33144677
Dlec1 is required for spermatogenesis and male fertility in mice.
PMID:33961781
Dual proteome-scale networks reveal cell-specific remodeling of the human interactome.
file:human/MKKS/MKKS-deep-research-falcon.md
Falcon deep research report for MKKS