HIF1AN

hypoxia inducible factor 1 subunit alpha inhibitor

Ensembl:
ENSG00000166135
UniProt:
Q9NWT6
OMIM:
606615
Synonyms:
DKFZP762F1811, FIH1, FLJ20615, FLJ22027

Cilia effects upon perturbation of HIF1AN

Ciliogenesis screen results (4 screens)

  • Kim2016: Not Reported
  • Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Mouse phenotype:
preweaning lethality, incomplete penetrance, small liver, abnormal eye morphology, abnormal skin morphology, abnormal coat/hair pigmentation, increased startle reflex, abnormal bone structure, decreased exploration in new environment, decreased prepulse inhibition, abnormal spleen morphology, increased neutrophil cell number, enlarged spleen
Mouse ciliopathy phenotype:
enlarged kidney, abnormal kidney morphology, prolonged qrs complex duration, abnormal liver morphology

Subcellular localization

cilia associated gene, cytosol, nucleus

Functional category

  • Ciliary assembly/disassembly
  • Signaling (Hedgehog, GPCRs, ion channels)
  • Transcription regulation

Function

HIF1AN is not localized to cilia, but it is functio lly related to ciliary processes through interactions with proteins like ANKS3 and NPHPs ( 25671767).

Model organism evidence

Danio rerio (1 reference)

Most NPHPs localize to the cilium and/or basal body; however, their precise molecular functions remain largely unknown.

PMIDs: 25671767