HIKESHI - heat shock protein nuclear import factor hikeshi Gene

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

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子ID: 51501

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	参考文献	由来
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	参考文献	由来
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	参考文献	由来
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

HIKESHI Protein-protein interaction Information

Type	タンパク質名	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	参考文献
Intra	HIKESHI	Q53FT3	ABLIM3	Homo sapiens	O94929-2	Y2H Prey Pooling	32296183
Intra	HIKESHI	Q53FT3	ABLIM3	Homo sapiens	O94929-2	Y2H Array	32296183
Intra	HIKESHI	Q53FT3	OTX2	Homo sapiens	P32243-2	Y2H Array	32296183
Intra	HIKESHI	Q53FT3	OTX2	Homo sapiens	P32243-2	Y2H Prey Pooling	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

関連疾患

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

Pre-clinical Phase

Bioactive Molecules (1)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-RS06173	HIKESHI Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

生物種	Symbol	由来	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
Others	HIKESHI	NCBI