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GENE - TERM ANNOTATION REPORT

RGD ID: 1602004
Species: Homo sapiens
RGD Object: Gene
Symbol: B9D1
Name: B9 domain containing 1
Acc ID: GO:0036038
Term: MKS complex
Definition: A protein complex that is located at the ciliary transition zone and consists of several proteins some of which are membrane bound. Acts as an organiser of transition zone inner structure, specifically the Y-shaped links, in conjunction with the NPHP complex. The MKS complex also acts as part of the selective barrier that prevents diffusion of proteins between the ciliary cytoplasm and cellular cytoplasm as well as between the ciliary membrane and plasma membrane.
Definition Source(s): GOC:cilia, GOC:sp, PMID:21422230, PMID:21565611, PMID:21725307, PMID:22179047, PMID:25869670, PMID:26595381, PMID:26982032
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
B9D1part_ofIEAUniProtKB:Q9R1S0 or ensembl:ENSMUSP00000099717150520179Ensembl GO_REF:0000107
B9D1part_ofIBAMGI:1351471 or MGI:2387643 or MGI:3584243 or PANTHER:PTN000311628 or UniProtKB:Q57YX0150520179GO_Central GO_REF:0000033
B9D1part_ofIEAPANTHER:PTHR12968:SF1150520179TreeGrafter GO_REF:0000118
B9D1part_ofISSUniProtKB:Q9R1S0150520179UniProt GO_REF:0000024
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