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5 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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LRGUK
leucine rich repeats and guanylate kinase domain containing
Chromosome 7 · 7q33
NCBI Gene: 136332Ensembl: ENSG00000155530.4HGNC: HGNC:21964UniProt: A0A2R8YEJ5
10PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Kinase
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingmanchettespermatogenesisacrosomal vesiclesmoking initiationattention deficit hyperactivity disordermajor depressive disordersubstance abuse
✦AI Summary

LRGUK (leucine rich repeats and guanylate kinase domain containing) is a critical regulator of male germ cell development with primary functions in sperm morphogenesis and fertility. The protein mediates multiple aspects of spermatogenesis, including acrosome attachment, sperm head shaping, and axoneme initiation 1. LRGUK-1 functions as a major determinant of microtubule structure by regulating basal body attachment to the plasma membrane, sub-distal appendage formation, axoneme microtubule extension, and microtubule organization within the manchette 1. Mechanistically, LRGUK-1 operates within a multiprotein complex involving HOOK family proteins, RIMBP3, and kinesin light chain-3, with its guanylate kinase-like domain essential for binding HOOK2 and RIMBP3, and its leucine-rich repeat domain essential for KLC3 binding 2. Mutations in LRGUK cause male infertility in humans, with recessive variants identified in infertile males with abnormal sperm morphology and reduced sperm output 3. Additionally, polymorphisms near LRGUK on chromosome 7 show association with Type 2 diabetes and fasting glucose levels, suggesting roles beyond reproduction 4. The gene's expression is dysregulated in nonobstructive azoospermia, where long noncoding RNA LINC00467 regulates LRGUK expression, implicating lncRNA-mediated mechanisms in male infertility pathogenesis 5.

Sources cited
1
LRGUK-1 is required for basal body function, acrosome attachment, sperm head shaping, axoneme initiation, and manchette organization during spermatogenesis
PMID: 25781171
2
LRGUK1 functions within a multiprotein complex with HOOK proteins, RIMBP3, and KLC3; GUK-like domain binds HOOK2/RIMBP3; LRR domain binds KLC3
PMID: 28003339
3
Recessive LRGUK mutations cause male infertility in humans; first documentation in human infertility cases
PMID: 38884051
4
LRGUK polymorphisms on chromosome 7q32 associate with Type 2 diabetes and fasting glucose levels
PMID: 18498660
5
LRGUK expression is dysregulated in nonobstructive azoospermia; regulated by lncRNA LINC00467 through ceRNA mechanism
PMID: 32174164
Disease Associationsⓘ20
smoking initiationOpen Targets
0.39Weak
attention deficit hyperactivity disorderOpen Targets
0.37Weak
major depressive disorderOpen Targets
0.33Weak
substance abuseOpen Targets
0.33Weak
placenta praeviaOpen Targets
0.31Weak
obesityOpen Targets
0.25Weak
dysthymic disorderOpen Targets
0.25Weak
schizophreniaOpen Targets
0.21Weak
intelligenceOpen Targets
0.21Weak
mathematical abilityOpen Targets
0.18Weak
spinal stenosisOpen Targets
0.18Weak
autism spectrum disorderOpen Targets
0.15Weak
information processing speedOpen Targets
0.15Weak
Abnormality of the skeletal systemOpen Targets
0.13Weak
neurodegenerative diseaseOpen Targets
0.12Weak
hamartomaOpen Targets
0.12Weak
nevusOpen Targets
0.12Weak
male reproductive organ cancerOpen Targets
0.12Weak
azoospermiaOpen Targets
0.10Suggestive
health study participationOpen Targets
0.08Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SPAG17Protein interaction90%DPY30Protein interaction88%PPP1CCProtein interaction85%PPP1CAProtein interaction85%PPP1CBProtein interaction85%CFAP221Protein interaction85%
Tissue Expression6 tissues
Bone Marrow
100%
Liver
21%
Lung
16%
Brain
8%
Ovary
7%
Heart
0%
Gene Interaction Network
Click a node to explore
LRGUKSPAG17DPY30PPP1CCPPP1CAPPP1CBCFAP221
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q96M69
View on AlphaFold ↗
RankingsWhere LRGUK stands among ~20K protein-coding genes
  • #17,095of 20,598
    Most Researched10
Genes detectedLRGUK
Sources retrieved5 papers
Response time—
📄 Sources
5
1
LRGUK-1 is required for basal body and manchette function during spermatogenesis and male fertility.
PMID: 25781171
PLoS Genet · 2015
1.00
2
Unraveling the Genetic Basis of Combined Deafness and Male Infertility Phenotypes through High-Throughput Sequencing in a Unique Cohort from South India.
PMID: 38884051
Adv Genet (Hoboken) · 2024
0.80
3
Polymorphisms near EXOC4 and LRGUK on chromosome 7q32 are associated with Type 2 Diabetes and fasting glucose; the NHLBI Family Heart Study.
PMID: 18498660
BMC Med Genet · 2008
0.60
4
LRGUK1 is part of a multiprotein complex required for manchette function and male fertility.
PMID: 28003339
FASEB J · 2017
0.40
5
Long noncoding RNAs expression profile and long noncoding RNA-mediated competing endogenous RNA network in nonobstructive azoospermia patients.
PMID: 32174164
Epigenomics · 2020
0.20