Skip to content
GenoLensGenoLens

IPO13

Chr 1p34.1

importin 13

Aliases:
IMP13, KIAA0724, RANBP13
MANE:
ENST00000372343.8

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • Structural eye disease

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • Parkinson disease

    0.34
  • lysosomal storage disease

    0.34
  • Alzheimer disease

    0.34
  • neurodegenerative disease

    0.34
  • multiple sclerosis

    0.34
  • Crohn disease

    0.09
  • non-small cell lung carcinoma

    0.07
  • pterygium

    0.07
  • endometrial carcinoma

    0.05
  • neoplasm

    0.05

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

Protein function (UniProt)

Importin-13

Functions in nuclear protein import as nuclear transport receptor. Serves as receptor for nuclear localization signals (NLS) in cargo substrates. Is thought to mediate docking of the importin/substrate complex to the nuclear pore complex (NPC) through binding to nucleoporin and the complex is subsequently translocated through the pore by an energy requiring, Ran-dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to the importin, the importin/substrate complex dissociates and importin is re-exported from the nucleus to the cytoplasm where GTP hydrolysis releases Ran. The directionality of nuclear import is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus (By similarity). Mediates the nuclear import of UBC9, the RBM8A/MAGOH complex, PAX6 and probably other members of the paired homeobox family. Also mediates nuclear export of eIF-1A, and the cytoplasmic release of eIF-1A is triggered by the loading of import substrates onto IPO13

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.