HIKESHI - heat shock protein nuclear import factor hikeshi Gene

Homo sapiens

Also known as HLD13; L7RN6; OPI10; HSPC138; HSPC179; C11orf73

Gene ID: 51501 | Gene type: protein coding

About HIKESHI

Cytogenetic location: 11q14.2 Genomic coordinates (GRCh38): 11:86,302,240-86,345,943 (from NCBI)

This gene has 7 transcripts (splice variants), 211 orthologues and is associated with 2 phenotypes. Ubiquitous expression in endometrium (RPKM 9.0), placenta (RPKM 7.6) and 25 other tissues.

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. [provided by RefSeq, Apr 2016]

HIKESHI Products(4)

mRNA	Protein	Name
NM_001322404.2	NP_001309333.1	protein Hikeshi isoform 2
NM_001322407.2	NP_001309336.1	protein Hikeshi isoform 3
NM_001322409.2	NP_001309338.1	protein Hikeshi isoform 3
NM_016401.4	NP_057485.2	protein Hikeshi isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables Hsp70 protein binding	IDA IDA: Inferred from direct assay	22541429	GOA
enables Hsp70 protein binding	IPI IPI: Inferred from physical interaction	25760597	GOA
enables nuclear import signal receptor activity	IDA IDA: Inferred from direct assay	22541429	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in cellular response to heat	IDA IDA: Inferred from direct assay	22541429	GOA
involved in protein import into nucleus	IDA IDA: Inferred from direct assay	22541429	GOA
involved in protein transport	IDA IDA: Inferred from direct assay	22541429	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cytosol	IDA IDA: Inferred from direct assay	22541429	GOA
located in nucleus	IDA IDA: Inferred from direct assay	22541429	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

HIKESHI Protein Structure

DUF775

0
100
197 a.a.

Protein Preferred Names

Protein Names

protein Hikeshi

Hikeshi, heat shock protein nuclear import factor

Related Diseases

Diseases

Alias

Leukodystrophy, Hypomyelinating, 13

Hypomyelinating Leukodystrophy 13	HLD13
C11orf73-Related Autosomal Recessive Hypomyelinating Leukodystrophy	C11orf73-Related Autosomal Recessive Hypomyelinating Leukoencephalopathy
Hypomyelinating Leukodystrophy Due To Hikeshi Deficiency

Hypomyelinating Leukoencephalopathy

Spastic Ataxia 8

Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism

HLD7	Leukoencephalopathy-Ataxia-Hypodontia-Hypomyelination Syndrome
Addh	Leukodystrophy, Hypomyelinating, With Hypodontia And Hypogonadotropic Hypogonadism
4h Syndrome	4h Leukodystrophy 1
Hypomyelinating Leukodystrophy 7 With Or Without Oligodontia And-Or Hypogonadotropic Hypogonadism	Hypomyelination-Cerebellar Atrophy-Hypoplasia Of The Corpus Callosum Syndrome
Leukodystrophy With Oligodontia	Tach Syndrome
Tremor-Ataxia-Central Hypomyelination Syndrome	Leukoencephalopathy, Hypomyelinating, With Ataxia And Delayed Dentition
Ataxia, Delayed Dentition, And Hypomyelination	Ataxia-Delayed Dentition-Hypomyelination Syndrome
Odontoleukodystrophy	Dentoleukoencephalopathy
Hypomyelinating Leukodystrophy-Ataxia-Hypodontia-Hypomyelination Syndrome	Ataxia-Delayed Dentition-Hypomyelination Syndrome
Ataxia Delayed Dentition And Hypomyelination	Leukodystrophy Hypomyelinating With Hypodontia And Hypogonadotropic Hypogonadism 4h Syndrome
Leukoencephalopathy Hypomyelinating With Ataxia And Delayed Dentition	Tach
Tremor-Ataxia With Central Hypomyelination	Attention Deficit Hyperactivity Disorder
Leukodystrophy, Dysmyelinating, With Oligodontia

Leukodystrophy, Hypomyelinating, 12

Hypomyelinating Leukodystrophy 12	HLD12
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy	Vps11-Related Autosomal Recessive Hypomyelinating Leukoencephalopathy

Leukodystrophy, Hypomyelinating, 11

Hypomyelinating Leukodystrophy 11	HLD11
4h Leukodystrophy 3	Leukodystrophy, Hypomyelinating, Type 11

Leukodystrophy

Leukodystrophies

Leukodystrophy, Hypomyelinating, 10

Hypomyelinating Leukodystrophy 10	HLD10
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Leukodystrophy, Hypomyelinating, Type 10

Bone Leiomyosarcoma

Leukodystrophy, Hypomyelinating, 4

Mitochondrial Hsp60 Chaperonopathy	Hypomyelinating Leukodystrophy 4
HLD4	Mitchap60 Disease
Pelizaeus-Merzbacher-Like Disease Due To Hspd1 Mutation	Mitchap-60 Disease
Leukodystrophy, Hypomyelinating, Type 4

Leukodystrophy, Hypomyelinating, 9

Hypomyelinating Leukodystrophy 9	HLD9
Rars-Related Autosomal Recessive Hypomyelinating Leukodystrophy	Leukodystrophy, Hypomyelinating, Type 9

Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease

Pcwh Syndrome	PCWH
Neurologic Waardenburg-Shah Syndrome	Waardenburg-Shah Syndrome, Neurologic Variant
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Hirschsprung Disease-Waardenburg Syndrome	Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Ws4 Plus	Peripheral Demyelinating Neuropathy, Central Dysmyelinating Leukodystrophy, Waardenburg Syndrome And Hirschsprung Disease
Waardenburg-Shah Syndrome Neurologic Variant

Allan-Herndon-Dudley Syndrome

AHDS	Allan-Herndon Syndrome
Monocarboxylate Transporter 8 Deficiency	MCT8 DEFICIENCY
Mental Retardation, X-Linked, With Hypotonia	Triiodothyronine Resistance
T3 Resistance	Mental Retardation And Muscular Atrophy
Mct8-Specific Thyroid Hormone Cell-Membrane Transporter Deficiency	Intellectual Disability And Muscular Atrophy
Monocarboxylate Transporter-8 Deficiency	T3 Resisitence
Triiodothyronine Resistence	X-Linked Intellectual Disability With Hypotonia
Mct8 -Specific Thyroid Hormone Cell Transporter Deficiency	Monocarboxylate Transporter 8 Deficiency
X-Linked Intellectual Disability-Hypotonia Syndrome

Hypomyelinating Leukodystrophy

Hld	Leukodystrophy, Hypomyelinating

Pelizaeus-Merzbacher Disease

PMD	HLD1
Pelizaeus-Merzbacher Brain Sclerosis	Leukodystrophy, Hypomyelinating, 1
Diffuse Familial Brain Sclerosis	Pelizaeus Merzbacher Brain Sclerosis
Sudanophilic Leukodystrophy, Paelizeus-Merzbacher Type	Cockayne-Pelizaeus-Merzbacher Disease
Hypomyelinating Leukodystrophy 1	Leukodystrophy, Sudanophilic
Pelizaeus Merzbacher Disease	Hypomyelinating Leukodystrophy, 1
Sudanophilic Leukodystrophy	Pelizaeus-Merzbacher Disease, Connatal Form
Connatal Pmd	Pelizaeus-Merzbacher Disease Type Ii
Severe Pmd	Null Syndrome
Plp1 Null Syndrome	Pelizaeus-Merzbacher Disease, Null Syndrome
Brain Sclerosis Diffuse Familial	Sudanophilic Leukodystrophy Paelizeus-Merzbacher Type
Leukodystrophy Hypomyelinating 1	Diffuse Cerebral Sclerosis Of Schilder

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS06173	HIKESHI Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	HIKESHI	MGD	MGI:96738
Bos taurus	HIKESHI	VGNC	VGNC:29853
Canis familiaris	HIKESHI	VGNC	VGNC:41689
Felis catus	HIKESHI	VGNC	VGNC:82480
Macaca mulatta	HIKESHI	VGNC	VGNC:73448
Rattus norvegicus	HIKESHI	RGD	RGD:1359455

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