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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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CIBAR1
CBY1 interacting BAR domain containing 1
Chromosome 8 Β· 8q22.1
NCBI Gene: 137392Ensembl: ENSG00000188343.15HGNC: HGNC:30452UniProt: A1XBS5
30PubMed Papers
21Diseases
0Drugs
3Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingphospholipid bindinginner mitochondrial membrane organizationmembrane organizationpolydactyly, postaxial, A9postaxial polydactyly type Aprotozoa infectious diseasealcohol drinking
✦AI Summary

CIBAR1 (CBY1 interacting BAR domain containing 1) is a BAR domain protein with critical roles in mitochondrial organization and ciliogenesis. As a membrane-organizing protein, CIBAR1 binds negatively charged phospholipids including cardiolipin and phosphatidylinositol 4,5-bisphosphate, inducing membrane curvature and tubulation essential for maintaining mitochondrial cristae ultrastructure 1. Beyond mitochondrial function, CIBAR1 plays a crucial role in primary cilia assembly and ciliogenesis 23, with evidence suggesting involvement in limb development through this ciliary pathway 3. CIBAR1 exhibits context-dependent subcellular localization that determines its biological functions; when localized to centrioles/basal bodies, it facilitates ciliogenesis, while other localizations may support alternative functions 4. The gene's clinical significance is underscored by its association with postaxial polydactyly type A9 (PAPA9), a non-syndromic digit anomaly 5. Disease-causing variants in CIBAR1 result in reduced expression and structural destabilization 5, with mutations causing developmental abnormalities linked to defective primary cilia formation 67. CIBAR1 also functions as a membrane recruitment factor for RabGEF complexes involved in intracellular trafficking 8, highlighting its multifunctional role in cellular organization.

Sources cited
1
CIBAR1 maintains mitochondrial ultrastructure and cristae organization by binding cardiolipin and phosphatidyl-inositol 4,5-bisphosphate to induce membrane curvature
PMID: 30404948
2
CIBAR1 plays a crucial role in ciliogenesis
PMID: 27528616
3
CIBAR1 involves in ciliogenesis and may play a role in limb development
PMID: 30395363
4
CIBAR1 (BARMR1/FAM92A1) encodes a BAR domain protein whose subcellular location determines biological function, facilitating ciliogenesis when colocalized with CBY at centrioles/basal bodies
PMID: 32891772
5
Biallelic CIBAR1 variants cause non-syndromic postaxial polydactyly type A9, with mutations altering protein secondary structure and stability
PMID: 38853702
6
CIBAR1 is a differentially spliced target of ZRSR2 variant, with defective splicing associated with abnormal primary cilia formation in oral-facial-digital syndrome
PMID: 38158857
7
CIBAR1 is a U12-intron containing ciliary gene associated with postaxial polydactyly, with diminished expression in SCNM1-deficient cells exhibiting abnormal primary cilia
PMID: 41291844
8
CIBAR1 BAR domain protein supports membrane recruitment of the Fuzzy-Inturned RabGEF complex
PMID: 40864718
Disease Associationsβ“˜21
polydactyly, postaxial, A9Open Targets
0.53Moderate
postaxial polydactyly type AOpen Targets
0.43Moderate
protozoa infectious diseaseOpen Targets
0.31Weak
alcohol drinkingOpen Targets
0.28Weak
ovarian neoplasmOpen Targets
0.27Weak
cholelithiasisOpen Targets
0.26Weak
Abnormality of the skeletal systemOpen Targets
0.23Weak
COVID-19Open Targets
0.20Weak
clavicle fractureOpen Targets
0.19Weak
severe acute respiratory syndromeOpen Targets
0.19Weak
tooth diseaseOpen Targets
0.19Weak
shoulder fractureOpen Targets
0.18Weak
major depressive disorderOpen Targets
0.18Weak
ovarian dysfunctionOpen Targets
0.17Weak
insomniaOpen Targets
0.17Weak
ocular hypotensionOpen Targets
0.17Weak
irritable bowel syndromeOpen Targets
0.14Weak
depressive disorderOpen Targets
0.08Suggestive
hemoglobin D diseaseOpen Targets
0.05Suggestive
MODYOpen Targets
0.04Suggestive
Polydactyly, postaxial, A9UniProt
Pathogenic Variants3
NM_145269.5(CIBAR1):c.478C>T (p.Arg160Ter)Pathogenic
Polydactyly, postaxial, type A9|Postaxial polydactyly type A
β˜…β˜…β˜†β˜†2024β†’ Residue 160
NM_145269.5(CIBAR1):c.364C>T (p.Arg122Ter)Pathogenic
Polydactyly, postaxial, type A9
β˜…β˜†β˜†β˜†2022β†’ Residue 122
NM_145269.5(CIBAR1):c.394_397del (p.Arg132fs)Likely pathogenic
Polydactyly, postaxial, type A9
β˜…β˜†β˜†β˜†2022β†’ Residue 132
View on ClinVar β†—
Related Genes
CBY1Protein interaction95%ARMC9Shared pathway33%TXNDC15Shared pathway33%HOATZShared pathway25%CFAP54Shared pathway25%TTLL3Shared pathway25%
Tissue Expression6 tissues
Heart
100%
Ovary
90%
Liver
76%
Brain
67%
Lung
40%
Bone Marrow
30%
Gene Interaction Network
Click a node to explore
CIBAR1CBY1ARMC9TXNDC15HOATZCFAP54TTLL3
PROTEIN STRUCTURE
Preparing viewer…
PDB8CEG Β· 2.03 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.06LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.69 [0.46–1.06]
RankingsWhere CIBAR1 stands among ~20K protein-coding genes
  • #11,885of 20,598
    Most Researched30
  • #4,115of 5,498
    Most Pathogenic Variants3
  • #10,639of 17,882
    Most Constrained (LOEUF)1.06
Genes detectedCIBAR1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Differential alternative splicing analysis links variation in ZRSR2 to a novel type of oral-facial-digital syndrome.
PMID: 38158857
Genet Med Β· 2024
1.00
2
Expanding the phenotype associated with biallelic SCNM1 variants.
PMID: 41291844
Hum Genomics Β· 2025
0.90
3
Mechanistic adaptation of the metazoan RabGEFs Mon1-Ccz1 and Fuzzy-Inturned.
PMID: 40864718
Sci Adv Β· 2025
0.80
4
Membrane remodeling by FAM92A1 during brain development regulates neuronal morphology, synaptic function, and cognition.
PMID: 39043703
Nat Commun Β· 2024
0.70
5
Transcriptome Profiling of Prostate Cancer, Considering Risk Groups and the TMPRSS2-ERG Molecular Subtype.
PMID: 37298233
Int J Mol Sci Β· 2023
0.60