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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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CABS1
calcium binding protein, spermatid associated 1
Chromosome 4 · 4q13.3
NCBI Gene: 85438Ensembl: ENSG00000145309.6HGNC: HGNC:30710UniProt: Q96KC9
13PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
calcium ion bindingspermatogenesisflagellated sperm motilitymitochondrial inner membranelymphatic system diseaseazoospermiaspermatogenic failure, X-linked, 5spermatogenic failure 72
✦AI Summary

CABS1 (calcium binding protein, spermatid associated 1) is a multifunctional calcium-binding protein with primary roles in male reproductive function and broader immunoregulatory activities. In spermatogenesis, CABS1 localizes to the sperm flagella, particularly the principal piece and fibrous sheath, where it is essential for maintaining structural integrity and progressive motility 1. CABS1 deficiency causes defective fibrous sheath architecture, abnormal microtubule configuration, and impaired calcium regulation, leading to subfertility and potentially asthenozoospermia in humans 1. Additionally, CABS1 is crucial for acrosome formation and proper localization of the oocyte activation factor PLCζ; mutations in CABS1 result in total fertilization failure and teratozoospermia 2. Beyond reproduction, CABS1 exhibits tissue-wide distribution in salivary glands, immune system, and other organs 3, and contains a primate-specific anti-inflammatory heptapeptide domain near its C-terminus 4. In human saliva, CABS1 levels correlate with psychological stress and inflammatory markers, with lower molecular weight forms associated with stress resilience 5. Structurally, CABS1 is a highly disordered protein with predicted ligand-binding capacity for Ca²⁺, Mg²⁺, and Zn²⁺, suggesting roles in energy metabolism and mitochondrial function 4. Dysregulation of CABS1 expression contributes to metastatic prostate cancer progression 6.

Sources cited
1
CABS1 is essential for sperm progressive motility, fibrous sheath integrity, and calcium regulation; its absence causes subfertility and potential asthenozoospermia
PMID: 39526486
2
Homozygous CABS1 mutations cause total fertilization failure, acrosomal abnormalities, and improper PLCζ localization
PMID: 40407971
3
CABS1 is widely distributed across multiple human tissues including salivary glands, immune system, and nervous system, with multiple molecular weight forms
PMID: 38753592
4
CABS1 is a structurally disordered protein with primate-specific anti-inflammatory domain and predicted binding for Ca²⁺, Mg²⁺, and Zn²⁺
PMID: 32692864
5
Salivary CABS1 levels correlate with psychological stress, inflammatory markers, and stress resilience
PMID: 28381457
6
CABS1 dysregulation contributes to metastatic prostate cancer progression
PMID: 38453924
Disease Associationsⓘ20
lymphatic system diseaseOpen Targets
0.24Weak
azoospermiaOpen Targets
0.10Weak
spermatogenic failure, X-linked, 5Open Targets
0.07Suggestive
spermatogenic failure 72Open Targets
0.07Suggestive
spermatogenic failure 18Open Targets
0.07Suggestive
spermatogenic failure 27Open Targets
0.07Suggestive
spermatogenic failure 46Open Targets
0.07Suggestive
spermatogenic failure 83Open Targets
0.07Suggestive
spermatogenic failure 19Open Targets
0.07Suggestive
spermatogenic failure 43Open Targets
0.07Suggestive
spermatogenic failure 45Open Targets
0.07Suggestive
spermatogenic failure 49Open Targets
0.07Suggestive
spermatogenic failure 82Open Targets
0.07Suggestive
spermatogenic failure 65Open Targets
0.07Suggestive
spermatogenic failure 84Open Targets
0.07Suggestive
spermatogenic failure 93Open Targets
0.07Suggestive
spermatogenic failure 56Open Targets
0.07Suggestive
spermatogenic failure 92Open Targets
0.07Suggestive
spermatogenic failure 94Open Targets
0.07Suggestive
spermatogenic failure 58Open Targets
0.06Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
TMEM232Shared pathway100%TRAPPC1Protein interaction80%TRAPPC2LProtein interaction79%TRAPPC5Protein interaction79%TRAPPC4Protein interaction72%TRAPPC10Protein interaction71%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
0%
Liver
0%
Brain
0%
Lung
0%
Heart
0%
Gene Interaction Network
Click a node to explore
CABS1TMEM232TRAPPC1TRAPPC2LTRAPPC5TRAPPC4TRAPPC10
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q96KC9
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.86LoF Tolerant
pLIⓘ
0.18Tolerant
Observed/Expected LoF0.78 [0.23–1.86]
RankingsWhere CABS1 stands among ~20K protein-coding genes
  • #16,121of 20,598
    Most Researched13
  • #16,951of 17,882
    Most Constrained (LOEUF)1.86
Genes detectedCABS1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
CRISPR/Cas9 model of prostate cancer identifies Kmt2c deficiency as a metastatic driver by Odam/Cabs1 gene cluster expression.
PMID: 38453924
Nat Commun · 2024
1.00
2
Identification and characterization of calcium binding protein, spermatid-associated 1 (CABS1)# in selected human tissues and fluids.
PMID: 38753592
PLoS One · 2024
0.90
3
Identification of nonfunctional CABS1 causing fertilization failure and male infertility in humans: a case report.
PMID: 40407971
J Assist Reprod Genet · 2025
0.80
4
CABS1 Is Essential for Progressive Motility and the Integrity of Fibrous Sheath in Mouse Epididymal Spermatozoa.
PMID: 39526486
Mol Reprod Dev · 2024
0.70
5
Structural and posttranslational analysis of human calcium-binding protein, spermatid-associated 1.
PMID: 32692864
J Cell Biochem · 2020
0.60