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DLC1

Chr 8p22

DLC1 Rho GTPase activating protein

Aliases:
HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP
MANE:
ENST00000276297.9

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Proteinuric renal disease

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • Abnormality of the skeletal system

    0.48
  • atrial fibrillation

    0.44
  • cervical carcinoma

    0.36
  • colon carcinoma

    0.33
  • Varicose veins

    0.32
  • tooth disorder

    0.30
  • preeclampsia

    0.30
  • ovarian dysfunction

    0.29
  • secondary malignant neoplasm

    0.29
  • Precordial pain

    0.28

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

Protein function (UniProt)

Rho GTPase-activating protein 7

Functions as a GTPase-activating protein for the small GTPases RHOA, RHOB, RHOC and CDC42, terminating their downstream signaling. This induces morphological changes and detachment through cytoskeletal reorganization, playing a critical role in biological processes such as cell migration and proliferation. Also functions in vivo as an activator of the phospholipase PLCD1. Active DLC1 increases cell migration velocity but reduces directionality. Required for growth factor-induced epithelial cell migration; in resting cells, interacts with TNS3 while PTEN interacts with the p85 regulatory subunit of the PI3K kinase complex but growth factor stimulation induces phosphorylation of TNS3 and PTEN, causing them to change their binding preference so that PTEN interacts with DLC1 and TNS3 interacts with p85 (PubMed:26166433). The PTEN-DLC1 complex translocates to the posterior of migrating cells to activate RHOA while the TNS3-p85 complex translocates to the leading edge of migrating cells to promote RAC1 activation (PubMed:26166433)

Curated MONDO disease pages that list DLC1 among their top associated genes.

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.