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GeneE
3 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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RIBC1
RIB43A domain with coiled-coils 1
Chromosome X · Xp11.22
NCBI Gene: 158787Ensembl: ENSG00000158423.18HGNC: HGNC:26537UniProt: Q8N443
16PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingflagellated sperm motilitysperm flagellumaxonemal A tubule inner sheathHSD10 diseaseHSD10 mitochondrial diseaseCornelia de Lange syndromehypertension
✦AI Summary

RIBC1 is a microtubule inner protein localized to the axonemal A tubule inner sheath of sperm flagella 1. As a RIB43A domain-containing protein with coiled-coil regions, RIBC1 functions cooperatively with its homolog RIBC2 to regulate sperm motility 1. While loss of RIBC1 alone reduces sperm velocity, combined deletion of both RIBC1 and RIBC2 causes significantly decreased sperm motility and reduced fertility, with the double-knockout mice producing fewer pups than wild-type controls 1. Notably, these motility defects occur without detectable structural abnormalities in axonemal architecture at the ultrastructural level, suggesting RIBC1 and RIBC2 function in subtle regulatory mechanisms rather than gross flagellar organization 1. RIBC1 is absent from brain tissue and escapes X-inactivation in females 2, limiting its pathogenic potential in X-linked mental retardation despite mapping to the Xp11.22 duplication hotspot. The protein's primary physiological role is therefore restricted to male germ cell function, where it contributes to flagellar dynamics essential for reproductive success.

Sources cited
1
RIBC1 is a microtubule inner protein in sperm flagella that cooperatively functions with RIBC2 to regulate sperm motility
PMID: 40265983
2
RIBC1/RIBC2 double-knockout mice show decreased sperm velocity and reduced fertility without structural axonemal abnormalities
PMID: 40265983
3
RIBC1 lacks brain expression and escapes X-inactivation, excluding it from X-linked mental retardation pathogenesis
PMID: 18252223
⚠Limited data available — This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
HSD10 diseaseOpen Targets
0.48Moderate
HSD10 mitochondrial diseaseOpen Targets
0.48Moderate
Cornelia de Lange syndromeOpen Targets
0.48Moderate
hypertensionOpen Targets
0.23Weak
obesityOpen Targets
0.18Weak
genetic disorderOpen Targets
0.16Weak
response to statinOpen Targets
0.12Weak
ependymomaOpen Targets
0.02Suggestive
genetic developmental and epileptic encephalopathyOpen Targets
0.01Suggestive
autismOpen Targets
0.01Suggestive
myelodysplastic syndromeOpen Targets
0.00Suggestive
chronic rhinosinusitisOpen Targets
0.00Suggestive
Hereditary breast cancerOpen Targets
0.00Suggestive
hereditary breast carcinomaOpen Targets
0.00Suggestive
melanomaOpen Targets
0.00Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.00Suggestive
thyroid cancer, nonmedullary, 1Open Targets
0.00Suggestive
urinary bladder cancerOpen Targets
0.00Suggestive
Uterine CarcinosarcomaOpen Targets
0.00Suggestive
uterine corpus endometrial carcinomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SPEM3Shared pathway100%TEKTIP1Shared pathway100%CFAP144Shared pathway100%CIMIP2AShared pathway100%CFAP77Shared pathway100%SPMIP10Shared pathway100%
Tissue Expression6 tissues
Ovary
100%
Bone Marrow
86%
Brain
81%
Heart
40%
Lung
36%
Liver
27%
Gene Interaction Network
Click a node to explore
RIBC1SPEM3TEKTIP1CFAP144CIMIP2ACFAP77SPMIP10
PROTEIN STRUCTURE
Preparing viewer…
PDB8J07 · 4.10 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.58Moderately Constrained
pLIⓘ
0.81Intermediate
Observed/Expected LoF0.36 [0.23–0.58]
RankingsWhere RIBC1 stands among ~20K protein-coding genes
  • #15,367of 20,598
    Most Researched16
  • #3,827of 17,882
    Most Constrained (LOEUF)0.58 · top quartile
Genes detectedRIBC1
Sources retrieved3 papers
Response time—
📄 Sources
3
1
Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation.
PMID: 18252223
Am J Hum Genet · 2008
1.00
2
The absence of both RIBC1 and RIBC2 induces decreased sperm motility and litter size in male mice.
PMID: 40265983
Andrology · 2026
0.67
3
Elucidation of the mechanism of ribose conjugation in a pyrazole-containing compound in rodent liver.
PMID: 22931212
Xenobiotica · 2013
0.33