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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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DRC1
dynein regulatory complex subunit 1
Chromosome 2 Β· 2p23.3
NCBI Gene: 92749Ensembl: ENSG00000157856.13HGNC: HGNC:24245UniProt: Q96MC2
23PubMed Papers
22Diseases
0Drugs
34Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingcilium-dependent cell motilityaxonemal dynein complex assemblyaxonemeprimary ciliary dyskinesia 21primary ciliary dyskinesiaspermatogenic failure 80ciliopathy
✦AI Summary

DRC1 (dynein regulatory complex subunit 1) is a critical structural component of the nexin-dynein regulatory complex (N-DRC), which regulates ciliary and flagellar motility by maintaining axonemal integrity and coordinating microtubule sliding 1. DRC1 coassembles with DRC2 to form a central scaffold essential for N-DRC assembly and attachment to outer doublet microtubules, while stabilizing inner dynein arms and radial spokes 1. Mechanistically, DRC1 functions as a master regulator of axonemal structure; its loss causes dyskinetic ciliary beating with reduced frequency and complete axonemal structural disorder in flagella, though cilia remain functional despite impaired motility 1. DRC1 deficiency causes primary ciliary dyskinesia (PCD) and multiple morphological abnormalities of sperm flagella (MMAF) 123. A recurrent founder deletion of exons 1-4 accounts for ~97% of Japanese and Korean PCD cases, originating approximately 3,050 years ago 45. DRC1 variants also cause non-syndromic male infertility; a recurrent North African frameshift variant causes severe asthenozoospermia without systemic PCD symptoms 6. Clinically, DRC1-associated infertility responds favorably to intracytoplasmic sperm injection, enabling successful pregnancies 36, making genetic screening crucial for population-specific variants in infertile patients.

Sources cited
1
DRC1 is essential for N-DRC assembly; loss causes shortening of cilia, impaired motility, and complete axonemal structural disorder in flagella
PMID: 34169321
2
A founder DRC1 exon 1-4 deletion causes ~97% of PCD cases in Japanese and Korean populations, with origin ~3,050 years ago
PMID: 39152285
3
Recurrent DRC1 exon 1-4 deletion shows identical breakpoint in Japanese and Korean PCD patients, consistent with Alu-mediated founder variant mechanism
PMID: 39349394
4
Homozygous DRC1 nonsense variant causes dyskinetic ciliary beat with lower frequency and partial lack of dynein arms
PMID: 36856967
5
DRC1 deficiency causes PCD with bronchiectasis and MMAF; patient achieved fertility through intracytoplasmic sperm injection
PMID: 34815526
6
Recurrent DRC1 frameshift variant causes non-syndromic severe asthenozoospermia without PCD symptoms; ICSI resulted in 68.5% fertilization and successful pregnancies
PMID: 39780445
Disease Associationsβ“˜22
primary ciliary dyskinesia 21Open Targets
0.73Strong
primary ciliary dyskinesiaOpen Targets
0.69Moderate
spermatogenic failure 80Open Targets
0.52Moderate
ciliopathyOpen Targets
0.37Weak
non-syndromic male infertility due to sperm motility disorderOpen Targets
0.37Weak
post term pregnancyOpen Targets
0.28Weak
Kartagener SyndromeOpen Targets
0.27Weak
genetic disorderOpen Targets
0.19Weak
diabetes mellitusOpen Targets
0.13Weak
atrial fibrillationOpen Targets
0.12Weak
type 2 diabetes mellitusOpen Targets
0.10Weak
azoospermiaOpen Targets
0.10Suggestive
HeterotaxiaOpen Targets
0.09Suggestive
Male infertility with spermatogenesis disorder due to single gene mutationOpen Targets
0.09Suggestive
partial chromosome Y deletionOpen Targets
0.08Suggestive
spermatogenic failure 65Open Targets
0.08Suggestive
spermatogenic failure 84Open Targets
0.08Suggestive
spermatogenic failure 93Open Targets
0.08Suggestive
spermatogenic failure 56Open Targets
0.08Suggestive
spermatogenic failure 92Open Targets
0.08Suggestive
Ciliary dyskinesia, primary, 21UniProt
Spermatogenic failure 80UniProt
Pathogenic Variants34
NM_145038.5(DRC1):c.352C>T (p.Gln118Ter)Pathogenic
Primary ciliary dyskinesia 21|Primary ciliary dyskinesia|not provided|not specified|Primary ciliary dyskinesia;Primary ciliary dyskinesia 21|DRC1-related disorder
β˜…β˜…β˜†β˜†2026β†’ Residue 118
NM_145038.5(DRC1):c.2066_2067dup (p.Val690fs)Pathogenic
Spermatogenic failure 80|Primary ciliary dyskinesia
β˜…β˜…β˜†β˜†2025β†’ Residue 690
NM_145038.5(DRC1):c.1599+1G>ALikely pathogenic
Primary ciliary dyskinesia|Primary ciliary dyskinesia 21
β˜…β˜…β˜†β˜†2025
NM_145038.5(DRC1):c.109dup (p.Gln37fs)Pathogenic
Primary ciliary dyskinesia|Primary ciliary dyskinesia 21|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 37
NM_145038.5(DRC1):c.1976del (p.Ser659fs)Pathogenic
Primary ciliary dyskinesia 21|Primary ciliary dyskinesia
β˜…β˜…β˜†β˜†2024β†’ Residue 659
NM_145038.5(DRC1):c.1009C>T (p.Gln337Ter)Pathogenic
Primary ciliary dyskinesia 21|Primary ciliary dyskinesia
β˜…β˜…β˜†β˜†2023β†’ Residue 337
NM_145038.5(DRC1):c.357-2A>GLikely pathogenic
Primary ciliary dyskinesia
β˜…β˜†β˜†β˜†2025
NM_145038.5(DRC1):c.1925C>A (p.Ser642Ter)Pathogenic
Primary ciliary dyskinesia
β˜…β˜†β˜†β˜†2025β†’ Residue 642
NM_145038.5(DRC1):c.1660C>T (p.Arg554Ter)Pathogenic
Spermatogenic failure 80|Primary ciliary dyskinesia
β˜…β˜†β˜†β˜†2025β†’ Residue 554
NM_145038.5(DRC1):c.1078A>T (p.Lys360Ter)Pathogenic
Primary ciliary dyskinesia
β˜…β˜†β˜†β˜†2025β†’ Residue 360
NM_145038.5(DRC1):c.1751C>G (p.Ser584Ter)Pathogenic
Primary ciliary dyskinesia
β˜…β˜†β˜†β˜†2025β†’ Residue 584
NM_145038.5(DRC1):c.562C>T (p.Gln188Ter)Likely pathogenic
Spermatogenic failure 80
β˜…β˜†β˜†β˜†2025β†’ Residue 188
NM_145038.5(DRC1):c.887del (p.Gln296fs)Pathogenic
Primary ciliary dyskinesia
β˜…β˜†β˜†β˜†2025β†’ Residue 296
NM_145038.5(DRC1):c.397A>T (p.Lys133Ter)Pathogenic
Primary ciliary dyskinesia
β˜…β˜†β˜†β˜†2025β†’ Residue 133
NM_145038.5(DRC1):c.731G>A (p.Trp244Ter)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 244
NM_145038.5(DRC1):c.1028G>C (p.Arg343Pro)Likely pathogenic
Spermatogenic failure 80
β˜…β˜†β˜†β˜†2024β†’ Residue 343
NM_145038.5(DRC1):c.797_801dup (p.Asp268Ter)Likely pathogenic
Spermatogenic failure 80
β˜…β˜†β˜†β˜†2024β†’ Residue 268
NM_145038.5(DRC1):c.1553del (p.Leu518fs)Pathogenic
Primary ciliary dyskinesia
β˜…β˜†β˜†β˜†2024β†’ Residue 518
NM_145038.5(DRC1):c.344dup (p.Arg117fs)Pathogenic
Primary ciliary dyskinesia|DRC1-related disorder
β˜…β˜†β˜†β˜†2024β†’ Residue 117
NM_145038.5(DRC1):c.1013del (p.Lys338fs)Pathogenic
Primary ciliary dyskinesia
β˜…β˜†β˜†β˜†2023β†’ Residue 338
View on ClinVar β†—
Related Genes
RSPH4AProtein interaction92%SERPINE2Protein interaction90%DNAAF1Protein interaction88%ZMYND10Protein interaction79%DNAAF5Protein interaction79%DRC3Protein interaction79%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
25%
Lung
16%
Liver
1%
Ovary
1%
Heart
0%
Gene Interaction Network
Click a node to explore
DRC1RSPH4ASERPINE2DNAAF1ZMYND10DNAAF5DRC3
PROTEIN STRUCTURE
Preparing viewer…
PDB8J07 Β· 4.10 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.87LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.72 [0.59–0.87]
RankingsWhere DRC1 stands among ~20K protein-coding genes
  • #13,404of 20,598
    Most Researched23
  • #1,712of 5,498
    Most Pathogenic Variants34
  • #7,627of 17,882
    Most Constrained (LOEUF)0.87
Genes detectedDRC1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
A 3000-year-old founder variant in the DRC1 gene causes primary ciliary dyskinesia in Japan and Korea.
PMID: 39152285
J Hum Genet Β· 2024
1.00
2
Loss of DRC1 function leads to multiple morphological abnormalities of the sperm flagella and male infertility in human and mouse.
PMID: 34169321
Hum Mol Genet Β· 2021
0.90
3
A case of primary ciliary dyskinesis with DRC1 deletion and literature review: Additional evidence on the founder effect.
PMID: 39349394
Pediatr Int Β· 2024
0.80
4
Characterization of a DRC1 null variant associated with primary ciliary dyskinesia and female infertility.
PMID: 36856967
J Assist Reprod Genet Β· 2023
0.70
5
DRC1, DNA replication and checkpoint protein 1, functions with DPB11 to control DNA replication and the S-phase checkpoint in Saccharomyces cerevisiae.
PMID: 10097122
Proc Natl Acad Sci U S A Β· 1999
0.60