Entity Details

Primary name HIKESHI
Entity type gene
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Details

PrimaryID51501
RefseqGeneNG_046865
SymbolHIKESHI
Nameheat shock protein nuclear import factor hikeshi
Chromosome11
Location11q14.2
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2000-05-11
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsHIKES_HUMAN

GO terms

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GOName
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005829 cytosol
GO:0006606 protein import into nucleus
GO:0007030 Golgi organization
GO:0015031 protein transport
GO:0016604 nuclear body
GO:0016607 nuclear speck
GO:0030324 lung development
GO:0030544 Hsp70 protein binding
GO:0034605 cellular response to heat
GO:0061608 nuclear import signal receptor activity
GO:1900034 regulation of cellular response to heat

Diseases

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Disease IDSourceNameDescription
616881 OMIMLeukodystrophy, hypomyelinating, 13 (HLD13)An autosomal recessive neurodegenerative disorder with infantile onset, affecting mainly the central white matter. Clinical features include early feeding difficulties, global developmental delay, postnatal progressive microcephaly, truncal hypotonia, spasticity, and variable neurologic deficits, such as visual impairment. The disease is caused by variants affecting the gene represented in this entry.