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

PMID:19208769

Functional interactions between the ciliopathy-associated Meckel syndrome 1 (MKS1) protein and two novel MKS1-related (MKSR) proteins.

Human B9-domain proteins localize to basal bodies and cilia; disruption of human MKSR1/B9D1 or MKSR2/B9D2 compromises ciliogenesis. The corresponding worm mutants do not show the same overt ciliary structural phenotype.

PMID:22179047

A ciliopathy complex at the transition zone protects the cilia as a privileged membrane domain.

B9D1, TMEM231 and CC2D2A localizations at the transition zone are interdependent. Disrupting their complex alters ciliary membrane composition and diffusion, linking the assembly to a ciliary compartment barrier.

PMID:26638075

A Dynamic Protein Interaction Landscape of the Human Centrosome-Cilium Interface.

PMID:27173435

An organelle-specific protein landscape identifies novel diseases and molecular mechanisms.

PMID:32726168

Formation of the B9-domain protein complex MKS1-B9D2-B9D1 is essential as a diffusion barrier for ciliary membrane proteins.

Cell-lysate interaction and three-hybrid experiments support an MKS1–B9D2–B9D1 arrangement in which B9D2 bridges MKS1 and B9D1. Tagged human B9D1 transition-zone localization depends on MKS1 and B9D2. The knockout functional experiments in this study target MKS1 or B9D2 rather than B9D1.

PMID:33961781

Dual proteome-scale networks reveal cell-specific remodeling of the human interactome.

PMID:40205054

Multimodal cell maps as a foundation for structural and functional genomics.

Reactome:R-HSA-5617816

RAB3IP stimulates nucleotide exchange on RAB8A

Reactome:R-HSA-5626681

Recruitment of transition zone proteins

Reactome:R-HSA-5638009

CEP164 recruits RAB3IP-carrying Golgi-derived vesicles to the basal body

PMID:41039152

Publisher Correction: Multimodal cell maps as a foundation for structural and functional genomics.

The fourth loss-function equation was corrected after duplication of the fifth equation. The correction does not report withdrawal of the B9D1–B9D2 interaction.

PMID:21763481

Disruption of a ciliary B9 protein complex causes Meckel syndrome.

Mouse B9d1 mutant fibroblasts retain cilia but fail to recruit Smoothened after SAG stimulation and have reduced Hedgehog transcriptional responses. Other tissues show distinct ciliogenesis defects. The study supports ciliary compartment organization, while its human patient mutation concerns B9D2.

PMID:41165761

Ciliopathy-related B9 protein complex regulates ciliary axonemal microtubule posttranslational modifications and initiation of ciliogenesis.

Human B9D1-knockout RPE1 cells have impaired ciliogenesis and CP110 removal, with reduced axonemal tubulin acetylation and polyglutamylation but unchanged whole-cell tubulin modifications. Detailed enzyme-trafficking and vesicle assays predominantly concern B9D2 or TMEM67; patient variants concern B9D2.