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DRC1

Chr 2p23.3

dynein regulatory complex subunit 1

Aliases:
MGC16372, FLJ32660, CILD21
MANE:
ENST00000288710.7

Annotations refreshed 10 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal
  • Primary ciliary disorders

    BIALLELIC, autosomal or pseudoautosomal
  • Respiratory ciliopathies including non-CF bronchiectasis

    BIALLELIC, autosomal or pseudoautosomal
  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal
  • Laterality disorders and isomerism

  • Rare multisystem ciliopathy disorders

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • primary ciliary dyskinesia

    0.75
  • primary ciliary dyskinesia 21

    0.73
  • spermatogenic failure 80

    0.52
  • non-syndromic male infertility due to sperm motility disorder

    0.39
  • ciliopathy

    0.38
  • Kartagener Syndrome

    0.27
  • post term pregnancy

    0.25
  • hereditary disease

    0.19
  • atrial fibrillation

    0.14
  • diabetes mellitus

    0.12

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Dynein regulatory complex protein 1

Component of the nexin-dynein regulatory complex (N-DRC) a key regulator of ciliary/flagellar motility which maintains the alignment and integrity of the distal axoneme and regulates microtubule sliding in motile axonemes (By similarity). Plays a critical role in the assembly of N-DRC and also stabilizes the assembly of multiple inner dynein arms and radial spokes (PubMed:23354437, PubMed:34169321). Coassembles with DRC2 to form a central scaffold needed for assembly of the N-DRC and its attachment to the outer doublet microtubules (PubMed:23354437)

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.