2. Gene
  3. HIP1 - huntingtin interacting protein 1 Gene

HIP1 - huntingtin interacting protein 1 Gene

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

中文名称：亨廷顿相互作用蛋白 1

种属: Homo sapiens

同用名: SHON; HIP-I; ILWEQ; SHONbeta; SHONgamma

基因 ID: 3092 | 基因类型: protein coding

关于 HIP1

Cytogenetic location: 7q11.23 Genomic coordinates (GRCh38): 7:75,533,298-75,738,941 (from NCBI)

This gene has 7 transcripts (splice variants), 212 orthologues, 1 paralogue and is associated with 78 phenotypes. Ubiquitous expression in brain (RPKM 11.4), lung (RPKM 10.8) and 23 other tissues.

功能概要

该基因的产物是一种膜相关蛋白，在细胞内的网格蛋白介导的内吞作用和蛋白质运输中发挥作用。编码的蛋白质与大脑中的亨廷顿蛋白结合；这种相互作用在亨廷顿病中消失了。可变剪接导致多个转录本变体。[RefSeq 提供，2013 年 7 月]

The product of this gene is a membrane-associated protein that functions in clathrin-mediated endocytosis and protein trafficking within the cell. The encoded protein binds to the Huntingtin protein in the brain; this interaction is lost in Huntington's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

HIP1 基因产物(4)

mRNA Protein Name
NM_001243198.3 NP_001230127.1 huntingtin-interacting protein 1 isoform 2
NM_001382444.1 NP_001369373.1 huntingtin-interacting protein 1 isoform 3
NM_001382445.1 NP_001369374.1 huntingtin-interacting protein 1 isoform 4
NM_005338.7 NP_005329.3 huntingtin-interacting protein 1 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 AP-2 adaptor complex binding IPI
IPI: 通过物理相互作用推断
15533940 GOA
enables actin filament binding IDA
IDA: 通过直接分析推断
18790740 GOA
enables clathrin binding IDA
IDA: 通过直接分析推断
11577110 GOA
enables clathrin light chain binding IPI
IPI: 通过物理相互作用推断
15533940 GOA
enables phosphatidylinositol binding IDA
IDA: 通过直接分析推断
14732715 GOA
enables phosphatidylinositol-3,4-bisphosphate binding IDA
IDA: 通过直接分析推断
14732715 GOA
enables phosphatidylinositol-3,5-bisphosphate binding IDA
IDA: 通过直接分析推断
14732715 GOA
enables phosphatidylinositol-3-phosphate binding IDA
IDA: 通过直接分析推断
14732715 GOA
NOT enables phosphatidylinositol-4,5-bisphosphate binding IDA
IDA: 通过直接分析推断
14732715 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
9140394 GOA
enables protein heterodimerization activity IPI
IPI: 通过物理相互作用推断
15533940 GOA
enables protein homodimerization activity IPI
IPI: 通过物理相互作用推断
15533940 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
acts upstream of or within activation of cysteine-type endopeptidase activity involved in apoptotic process IDA
IDA: 通过直接分析推断
11788820 GOA
acts upstream of or within apoptotic process IDA
IDA: 通过直接分析推断
11788820 GOA
involved in apoptotic signaling pathway IDA
IDA: 通过直接分析推断
11007801 GOA
acts upstream of or within clathrin coat assembly IDA
IDA: 通过直接分析推断
11577110 GOA
involved in clathrin coat assembly IDA
IDA: 通过直接分析推断
11889126 GOA
involved in positive regulation of epidermal growth factor receptor signaling pathway IMP
IMP: 通过突变表型推断
14732715 GOA
involved in positive regulation of platelet-derived growth factor receptor-beta signaling pathway IMP
IMP: 通过突变表型推断
14732715 GOA
involved in positive regulation of receptor-mediated endocytosis IMP
IMP: 通过突变表型推断
11532990 GOA
involved in protein stabilization IDA
IDA: 通过直接分析推断
14732715 GOA
acts upstream of or within regulation of apoptotic process IDA
IDA: 通过直接分析推断
11788820 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in Golgi apparatus IDA
IDA: 通过直接分析推断
11788820 GOA
located in clathrin-coated vesicle IDA
IDA: 通过直接分析推断
11517213 GOA
located in cytoplasm IDA
IDA: 通过直接分析推断
11604514 GOA
located in presynapse IDA
IDA: 通过直接分析推断
20074057 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

HIP1 蛋白结构

ANTH

ANTH: ANTH domain (38 - 306)

I_LWEQ

I_LWEQ: I/LWEQ domain (861 - 1010)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1037 a.a.
蛋白主名 其他名称

huntingtin-interacting protein 1

huntingtin-interacting protein I

HIP1 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
Intra HIP1 O00291 ATG10 Homo sapiens Q9H0Y0
Y2H Array
32814053
Intra HIP1 O00291 ATG10 Homo sapiens Q9H0Y0
Y2H Pooling
32814053
Intra HIP1 O00291 ATG10 Homo sapiens Q9H0Y0
Validated Y2H
32814053
Intra HIP1 O00291 RPRM Homo sapiens Q9NS64
Y2H Array
32296183
Intra HIP1 O00291 RPRM Homo sapiens Q9NS64
Y2H Prey Pooling
32296183
Intra HIP1 O00291 RPRM Homo sapiens Q9NS64
Validated Y2H
32296183
Intra HIP1 O00291 RHEB Homo sapiens Q15382
Y2H Array
32814053
Intra HIP1 O00291 RHEB Homo sapiens Q15382
Y2H Pooling
32814053
Intra HIP1 O00291 RHEB Homo sapiens Q15382
Validated Y2H
32814053
Intra HIP1 O00291 CYRIB Homo sapiens Q9NUQ9
Validated Y2H
32296183
Intra HIP1 O00291 KLHL36 Homo sapiens Q8N4N3-2
Y2H Pooling
32814053
Intra HIP1 O00291 KLHL36 Homo sapiens Q8N4N3-2
Validated Y2H
32814053
Intra HIP1 O00291 KLHL36 Homo sapiens Q8N4N3-2
Y2H Array
32814053
Intra HIP1 O00291 TCEANC Homo sapiens Q8N8B7-2
Validated Y2H
32296183
Intra HIP1 O00291 FAM168A Homo sapiens Q92567-2
Validated Y2H
32296183
Intra HIP1 O00291 TGM5 Homo sapiens O43548
Y2H Pooling
32814053
Intra HIP1 O00291 TGM5 Homo sapiens O43548
Validated Y2H
32814053
Intra HIP1 O00291 TGM5 Homo sapiens O43548
Y2H Array
32814053
Intra HIP1 O00291 NPEPL1 Homo sapiens Q8NDH3-5
Y2H Pooling
32814053
Intra HIP1 O00291 NPEPL1 Homo sapiens Q8NDH3-5
Validated Y2H
32814053
Intra HIP1 O00291 NPEPL1 Homo sapiens Q8NDH3-5
Y2H Array
32814053
Intra HIP1 O00291 COL2A1 Homo sapiens P02458-1
Validated Y2H
32814053
Intra HIP1 O00291 COL2A1 Homo sapiens P02458-1
Y2H Array
32814053
Intra HIP1 O00291 COL2A1 Homo sapiens P02458-1
Y2H Pooling
32814053
Intra HIP1 O00291 MPI Homo sapiens P34949-2
Validated Y2H
32814053
Intra HIP1 O00291 MPI Homo sapiens P34949-2
Y2H Pooling
32814053
Intra HIP1 O00291 MPI Homo sapiens P34949-2
Y2H Array
32814053
Intra HIP1 O00291 EHHADH Homo sapiens Q08426
Validated Y2H
32296183
Intra HIP1 O00291 NAB2 Homo sapiens Q15742-2
Y2H Pooling
32814053
Intra HIP1 O00291 NAB2 Homo sapiens Q15742-2
Validated Y2H
32814053
Intra HIP1 O00291 NAB2 Homo sapiens Q15742-2
Y2H Array
32814053
Intra HIP1 O00291 RGR Homo sapiens P47804-3
Y2H Array
32814053
Intra HIP1 O00291 RGR Homo sapiens P47804-3
Validated Y2H
32814053
Intra HIP1 O00291 RGR Homo sapiens P47804-3
Y2H Pooling
32814053
Intra HIP1 O00291 ACTL7B Homo sapiens Q9Y614
Y2H Array
32814053
Intra HIP1 O00291 ACTL7B Homo sapiens Q9Y614
Y2H Pooling
32814053
Intra HIP1 O00291 ACTL7B Homo sapiens Q9Y614
Validated Y2H
32814053
Intra HIP1 O00291 VPS54 Homo sapiens Q9P1Q0-4
Y2H Pooling
32814053
Intra HIP1 O00291 VPS54 Homo sapiens Q9P1Q0-4
Validated Y2H
32814053
Intra HIP1 O00291 VPS54 Homo sapiens Q9P1Q0-4
Y2H Array
32814053
Intra HIP1 O00291 WDR31 Homo sapiens Q8NA23-2
Validated Y2H
32814053
Intra HIP1 O00291 WDR31 Homo sapiens Q8NA23-2
Y2H Pooling
32814053
Intra HIP1 O00291 WDR31 Homo sapiens Q8NA23-2
Y2H Array
32814053
Intra HIP1 O00291 SF3B3 Homo sapiens Q15393
Validated Y2H
32814053
Intra HIP1 O00291 SF3B3 Homo sapiens Q15393
Y2H Array
32814053
Intra HIP1 O00291 SF3B3 Homo sapiens Q15393
Y2H Pooling
32814053
Intra HIP1 O00291 TIGAR Homo sapiens Q9NQ88
Validated Y2H
32814053
Intra HIP1 O00291 TIGAR Homo sapiens Q9NQ88
Y2H Pooling
32814053
Intra HIP1 O00291 TIGAR Homo sapiens Q9NQ88
Y2H Array
32814053
Intra HIP1 O00291 GLS2 Homo sapiens Q9UI32
Validated Y2H
32296183
Intra HIP1 O00291 CBX4 Homo sapiens O00257-3
Y2H Array
32814053
Intra HIP1 O00291 CBX4 Homo sapiens O00257-3
Y2H Pooling
32814053
Intra HIP1 O00291 CBX4 Homo sapiens O00257-3
Validated Y2H
32814053
Intra HIP1 O00291 CLTA Homo sapiens P09496-2
Validated Y2H
32814053
Intra HIP1 O00291 CLTA Homo sapiens P09496-2
Y2H Array
32814053
Intra HIP1 O00291 CLTA Homo sapiens P09496-2
Y2H Pooling
32814053
Intra HIP1 O00291 HTT Homo sapiens P42858
Y2H
17500595
Intra HIP1 O00291 HTT Homo sapiens P42858
Anti Tag CoIP
22835334
Intra HIP1 O00291 HTT Homo sapiens P42858
Validated Y2H
32814053
Intra HIP1 O00291 HTT Homo sapiens P42858
Y2H Array
32814053
Intra HIP1 O00291 HTT Homo sapiens P42858
Y2H Pooling
32814053
Intra HIP1 O00291 CTNNB1 Homo sapiens P35222
Y2H Array
32814053
Intra HIP1 O00291 CTNNB1 Homo sapiens P35222
Y2H Pooling
32814053
Intra HIP1 O00291 CTNNB1 Homo sapiens P35222
Validated Y2H
32814053
Intra HIP1 O00291 TCEA2 Homo sapiens Q15560
Validated Y2H
32296183
Intra HIP1 O00291 JPT1 Homo sapiens Q9UK76
Validated Y2H
32814053
Intra HIP1 O00291 JPT1 Homo sapiens Q9UK76
Y2H Array
32814053
Intra HIP1 O00291 JPT1 Homo sapiens Q9UK76
Y2H Pooling
32814053
Intra HIP1 O00291 LITAF Homo sapiens Q99732
Validated Y2H
32296183
Intra HIP1 O00291 LITAF Homo sapiens Q99732
Validated Y2H
32814053
Intra HIP1 O00291 LITAF Homo sapiens Q99732
Y2H Pooling
32814053
Intra HIP1 O00291 LITAF Homo sapiens Q99732
Y2H Array
32814053
Intra HIP1 O00291 LNX1 Homo sapiens Q8TBB1
Validated Y2H
32296183
Intra HIP1 O00291 CFAP53 Homo sapiens Q96M91
Validated Y2H
32296183
Intra HIP1 O00291 SYT17 Homo sapiens Q9BSW7
Validated Y2H
32296183
Intra HIP1 O00291 TENT5B Homo sapiens Q96A09
Validated Y2H
32814053
Intra HIP1 O00291 TENT5B Homo sapiens Q96A09
Y2H Array
32814053
Intra HIP1 O00291 TENT5B Homo sapiens Q96A09
Y2H Pooling
32814053
Cross HIP1 O00291 Necap1 Mus musculus Q9CR95
Pull Down
17762867
Intra HIP1 O00291 AK8 Homo sapiens Q96MA6
Validated Y2H
32814053
Intra HIP1 O00291 AK8 Homo sapiens Q96MA6
Y2H Pooling
32814053
Intra HIP1 O00291 AK8 Homo sapiens Q96MA6
Y2H Array
32814053
Intra HIP1 O00291 BAAT Homo sapiens Q14032
Validated Y2H
32814053
Intra HIP1 O00291 BAAT Homo sapiens Q14032
Y2H Array
32814053
Intra HIP1 O00291 BAAT Homo sapiens Q14032
Y2H Pooling
32814053
Intra HIP1 O00291 TCAP Homo sapiens O15273
Y2H Pooling
32814053
Intra HIP1 O00291 TCAP Homo sapiens O15273
Validated Y2H
32814053
Intra HIP1 O00291 TCAP Homo sapiens O15273
Y2H Array
32814053
Intra HIP1 O00291 RAD23B Homo sapiens P54727
Validated Y2H
32296183
Cross HIP1 O00291 Apaf1 Rattus norvegicus Q9EPV5
Pull Down
16979168
Cross HIP1 O00291 Apaf1 Rattus norvegicus Q9EPV5
Anti Tag CoIP
16979168
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
Chronic Myelomonocytic Leukemia

Leukemia, Myelomonocytic, Chronic

Cmml

Leukemia Myelomonocytic Chronic

Cmml - [Chronic Myelomonocytic Leukaemia]

Chronic Myelomonocytic Leukaemia Without Mention Of Remission

Chronic Monocytic Leukaemia

Chronic Monocytoid Leukaemia
Huntington Disease

Huntington'S Disease

Huntington Chorea

Huntington'S Chorea

HD

Huntington Chronic Progressive Hereditary Chorea

Juvenile Huntington Disease

Chronic Progressive Chorea

Chronic Progressive Hereditary Chorea

Hc - [Huntington Chorea]

Hereditary Chorea

Progressive Hereditary Chorea
Penis Carcinoma In Situ

Carcinoma In Situ Of Penis

Bowen'S Disease Of Penis

Grade Iii Squamous Intraepithelial Lesion Of Penis

Penile Intraepithelial Neoplasia Grade Iii

Queyrat'S Erythroplasia

Erythroplasia Of Queyrat

Pin - [Penile Intraepithelial Neoplasia]
Nivelon-Nivelon-Mabille Syndrome

Chondrodysplasia-Pseudohermaphroditism Syndrome

NNMS

Chondrodysplasia-Disorder Of Sex Development Syndrome

Nivelon Nivelon Mabille Syndrome
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2a

MLC2A

Leukoencephalopathy, Megalencephalic, With Subcortical Cysts, 2a

Leukoencephalopathy, Megalencephalic, With Subcortical Cysts, Type 2a
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
Ancylostomiasis

Ankylostomiasis

Hookworm Infection

Hookworm Infections

Ancylostomiasis Due To Ancylostoma Duodenale

Ancylostoma Duodenale Infection
Basal Cell Nevus Syndrome

Nevoid Basal Cell Carcinoma Syndrome

Gorlin Syndrome

Nbccs

BCNS

Gorlin-Goltz Syndrome

Multiple Basal Cell Nevi, Odontogenic Keratocysts, And Skeletal Anomalies

Cerebral Gigantism Jaw Cysts

Cramer Niederdellmann Syndrome

Gorlin Syndrome Or Gorlin-Goltz Syndrome

Naevoid Basal Cell Carcinoma Syndrome
Charcot-Marie-Tooth Disease

Cmt

Hmsn

Hereditary Motor And Sensory Neuropathy

Pma

Cmt - Charcot-Marie-Tooth Disease

Charcot Marie Tooth Disease

Charcot-Marie-Tooth Hereditary Neuropathy

Charcot-Marie-Tooth Syndrome

Peroneal Muscular Atrophy

Hereditary Motor And Sensory Neuropathies
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 (3)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-P3799 [Glp6] Substance P (6-11) / 否
HY-RS06179 HIP1 Human Pre-designed siRNA Set A Pre-designed Sets / 否
HY-RS06180 HIP1R Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Bos taurus HIP1 VGNC VGNC:29857
Felis catus HIP1 VGNC VGNC:67573
Macaca mulatta HIP1 VGNC VGNC:73471
Rattus norvegicus HIP1 RGD RGD:620305
Mus musculus HIP1 MGD MGI:1099804
Canis familiaris HIP1 VGNC VGNC:41691
Others HIP1 NCBI
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