2. Gene
  3. HIKESHI - heat shock protein nuclear import factor hikeshi Gene

HIKESHI - heat shock protein nuclear import factor hikeshi Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：热休克蛋白核输入因子 hikeshi

种属: Homo sapiens

同用名: HLD13; L7RN6; OPI10; HSPC138; HSPC179; C11orf73

基因 ID: 51501 | 基因类型: protein coding

关于 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.

功能概要

该基因编码一种进化上保守的核转运受体，该受体通过与 FG-核孔蛋白的相互作用介导热休克诱导的 70 kDa 热休克蛋白 (Hsp70s) 的核输入。在热休克应激条件下，该蛋白质介导 HSP70 蛋白的 ATP 形式而非 ADP 形式的转运。结构分析表明该蛋白质形成不对称同二聚体，N 末端域由果冻卷/β 夹层折叠结构组成，该结构包含参与 FG-核孔蛋白识别的疏水口袋。使用小干扰 RNA 降低 HeLa 细胞中的 RNA 表达水平会抑制热休克诱导的 HSP70 核积累，表明该基因在热休克应激期间调节 HSP70 核输入中的作用。[RefSeq 提供，2016 年 4 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables Hsp70 protein binding IDA
IDA: 通过直接分析推断
22541429 GOA
enables Hsp70 protein binding IPI
IPI: 通过物理相互作用推断
25760597 GOA
enables nuclear import signal receptor activity IDA
IDA: 通过直接分析推断
22541429 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
32296183 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cellular response to heat IDA
IDA: 通过直接分析推断
22541429 GOA
involved in protein import into nucleus IDA
IDA: 通过直接分析推断
22541429 GOA
involved in protein transport IDA
IDA: 通过直接分析推断
22541429 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytosol IDA
IDA: 通过直接分析推断
22541429 GOA
located in nucleus IDA
IDA: 通过直接分析推断
22541429 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

HIKESHI 蛋白结构

DUF775

DUF775: Protein of unknown function (DUF775) (1 - 195)

  • 0
  • 100
  • 197 a.a.
蛋白主名 其他名称

protein Hikeshi

Hikeshi, heat shock protein nuclear import factor

HIKESHI 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
HIKESHI Q53FT3 ABLIM3 Homo sapiens O94929-2
Y2H Prey Pooling
32296183
种属内
HIKESHI Q53FT3 ABLIM3 Homo sapiens O94929-2
Y2H Array
32296183
种属内
HIKESHI Q53FT3 OTX2 Homo sapiens P32243-2
Y2H Array
32296183
种属内
HIKESHI Q53FT3 OTX2 Homo sapiens P32243-2
Y2H Prey Pooling
32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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
疾病名称 别名
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS06173 HIKESHI Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 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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