Entity Details

Primary name CIBAR1
Entity type gene
Source Source Link

Details

PrimaryID137392
RefseqGene
SymbolCIBAR1
NameCBY1 interacting BAR domain containing 1
Chromosome8
Location8q22.1
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2001-12-01
ModificationDate2021-06-22

Ontological Relatives

UniProt IDsFA92A_HUMAN

GO terms

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GOName
GO:0005543 phospholipid binding
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005743 mitochondrial inner membrane
GO:0005814 centriole
GO:0007007 inner mitochondrial membrane organization
GO:0035108 limb morphogenesis
GO:0035869 ciliary transition zone
GO:0036064 ciliary basal body
GO:0045880 positive regulation of smoothened signaling pathway
GO:0060271 cilium assembly
GO:0061024 membrane organization
GO:0097546 ciliary base

Diseases

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Disease IDSourceNameDescription
618219 OMIMPolydactyly, postaxial, A9 (PAPA9)A form of postaxial polydactyly, a condition characterized by the occurrence of supernumerary digits in the upper and/or lower extremities. In postaxial polydactyly type A, the extra digit is well-formed and articulates with the fifth or a sixth metacarpal/metatarsal. PAPA9 is an autosomal recessive condition characterized by one or more posterior or postaxial digits. The disease may be caused by variants affecting the gene represented in this entry.

Interactions

9 interactions

InteractorPartnerSourcesPublicationsLink
CIBAR1APPBP2BioGRID, IntAct19060904 details
CIBAR1CBY1BioGRID, IntAct25416956 32296183 details
CIBAR1CBY2BioGRID, IntAct32296183 details
CIBAR1MRPS34BioGRID, IntAct28514442 details
CIBAR1MBIPBioGRID, IntAct28514442 details
CIBAR1TNIP2BioGRID27609421 details
CIBAR1PTPRUBioGRID28675297 details
CIBAR1BRD3BioGRID31753913 details
CIBAR1KRASBioGRID34079125 details