Gene: HIKESHI

Alternate names for this Gene: C11orf73|HLD13|HSPC138|HSPC179|L7RN6|OPI10

Gene Summary: This gene encodes an evolutionarily conserved nuclear transport receptor that mediates heat-shock-induced nuclear import of 70 kDa heat-shock proteins (Hsp70s) through interactions with FG-nucleoporins. The protein mediates transport of the ATP form but not the ADP form of Hsp70 proteins under conditions of heat shock stress. Structural analyses demonstrate that the protein forms an asymmetric homodimer and that the N-terminal domain consists of a jelly-roll/beta-sandwich fold structure that contains hydrophobic pockets involved in FG-nucleoporin recognition. Reduction of RNA expression levels in HeLa cells using small interfering RNAs results in inhibition of heat shock-induced nuclear accumulation of Hsp70s, indicating a role for this gene in regulation of Hsp70 nuclear import during heat shock stress.

Gene is located in Chromosome: 11

Location in Chromosome : 11q14.2

Description of this Gene: heat shock protein nuclear import factor hikeshi

Type of Gene: protein-coding

rs202003795 in HIKESHI gene and LEUKODYSTROPHY, HYPOMYELINATING, 13 PMID 26545878 2016 Leukoencephalopathy and early death associated with an Ashkenazi-Jewish founder mutation in the Hikeshi gene.

rs1387003933 in HIKESHI gene and Movement Disorders PMID 28000699 2017 Absence of Hikeshi, a nuclear transporter for heat-shock protein HSP70, causes infantile hypomyelinating leukoencephalopathy.

PMID 25760597 2015 Structural and functional analysis of Hikeshi, a new nuclear transport receptor of Hsp70s.

PMID 26545878 2016 Leukoencephalopathy and early death associated with an Ashkenazi-Jewish founder mutation in the Hikeshi gene.