2. Gene
  3. HIP1R - huntingtin interacting protein 1 related Gene

HIP1R - huntingtin interacting protein 1 related 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 相关

种属: Homo sapiens

同用名: HIP3; HIP12; ILWEQ

基因 ID: 9026 | 基因类型: protein coding

关于 HIP1R

Cytogenetic location: 12q24.31 Genomic coordinates (GRCh38): 12:122,834,748-122,862,961 (from NCBI)

This gene has 10 transcripts (splice variants), 272 orthologues and 1 paralogue. Ubiquitous expression in brain (RPKM 19.4), kidney (RPKM 16.5) and 25 other tissues.

功能概要

启用多种功能，包括磷脂酰肌醇磷酸盐结合活性；磷脂酰肌醇-3,4-二磷酸结合活性；和蛋白质同二聚化活性。参与多个过程，包括信号转导的正向调节；蛋白质稳定性；和细胞器组织的调节。位于网格蛋白包被的囊泡中；胞质溶胶；和荷叶边膜。 [由基因组资源联盟提供，2022 年 4 月]

Enables several functions, including phosphatidylinositol phosphate binding activity; phosphatidylinositol-3,4-bisphosphate binding activity; and protein homodimerization activity. Involved in several processes, including positive regulation of signal transduction; protein stabilization; and regulation of organelle organization. Located in clathrin-coated vesicle; cytosol; and ruffle membrane. [provided by Alliance of Genome Resources, Apr 2022]

HIP1R 基因产物(3)

mRNA Protein Name
NM_001303097.2 NP_001290026.1 huntingtin-interacting protein 1-related protein isoform 2
NM_001303099.2 NP_001290028.1 huntingtin-interacting protein 1-related protein isoform 3
NM_003959.3 NP_003950.1 huntingtin-interacting protein 1-related protein 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 actin filament binding IDA
IDA: 通过直接分析推断
16415883 GOA
enables clathrin binding IDA
IDA: 通过直接分析推断
14732715 GOA
enables identical protein binding IPI
IPI: 通过物理相互作用推断
16415883 GOA
enables phosphatidylinositol binding IDA
IDA: 通过直接分析推断
14732715 GOA
enables phosphatidylinositol-3,4,5-trisphosphate 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-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
11889126 GOA
enables protein homodimerization activity IPI
IPI: 通过物理相互作用推断
16415883 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in activation of cysteine-type endopeptidase activity involved in apoptotic process IDA
IDA: 通过直接分析推断
19255499 GOA
involved in negative regulation of actin filament polymerization IMP
IMP: 通过突变表型推断
17318189 GOA
involved in positive regulation of apoptotic process IGI
IGI: 通过遗传相互作用推断
19255499 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 mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway IGI
IGI: 通过遗传相互作用推断
19255499 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 protein binding IDA
IDA: 通过直接分析推断
19255499 GOA
involved in protein stabilization IDA
IDA: 通过直接分析推断
14732715 GOA
involved in receptor-mediated endocytosis IMP
IMP: 通过突变表型推断
11889126 GOA
involved in regulation of actin cytoskeleton organization IMP
IMP: 通过突变表型推断
14742709 GOA
involved in regulation of endocytosis IMP
IMP: 通过突变表型推断
14742709 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in clathrin-coated vesicle IDA
IDA: 通过直接分析推断
11889126 GOA
located in ruffle membrane IDA
IDA: 通过直接分析推断
14732715 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

HIP1R 蛋白结构

ANTH

ANTH: ANTH domain (29 - 298)

I_LWEQ

I_LWEQ: I/LWEQ domain (861 - 1010)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1068 a.a.
蛋白主名 其他名称

huntingtin-interacting protein 1-related protein

HIP-12

HIP1R 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 HIP1R O75146 HIP1 Homo sapiens O00291
Anti Tag CoIP
33961781
Intra HIP1R O75146 HIP1R Homo sapiens O75146
Pull Down
16415883
Intra HIP1R O75146 HIP1R Homo sapiens O75146
GMS
16415883
Intra HIP1R O75146 HIP1 Homo sapiens O00291
Anti Tag CoIP
28514442
Intra HIP1R O75146 GAK Homo sapiens O14976
Anti Tag CoIP
33961781
Intra HIP1R O75146 GAK Homo sapiens O14976
Anti Tag CoIP
28514442
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
Expressive Language Disorder

Developmental Expressive Language Disorder
Simpson-Golabi-Behmel Syndrome, Type 2

Simpson-Golabi-Behmel Syndrome Type 2

SGBS2

Simpson-Golabi-Behmel Syndrome 2
Gastritis, Familial Giant Hypertrophic

Menetrier Disease

Gastric Mucosal Hypertrophy

Giant Hypertrophic Gastritis

Hypertrophic Gastropathy

Gastritis, Hypertrophic

Familial Giant Hypertrophic Gastritis

Giant Rugal Hypertrophy Of Stomach

Hypertrophic Gastritis

Gastroenteropathy, Protein Losing

Giant Hypertrophic Gastropathy

Giant Hypertrophy Of The Gastric Mucosa

Hypoproteinemic Hypertrophic Gastropathy

Menetrier'S Disease

Giant Hypertrophic Hypersecretory Gastritis
Parkinson Disease, Late-Onset

Parkinson Disease

Parkinson'S Disease

PD

PARK

Parkinson Disease, Susceptibility To

Late Onset Parkinson'S Disease

Late Onset Parkinson Disease

Paralysis Agitans

Primary Parkinsonism

Idiopathic Parkinson Disease

Parkinson'S

Parkinson Disease, Late-Onset, Susceptibility To

Parkinson Disease, Age Of Onset, Modifier

Lewy Body Parkinson Disease

Idiopathic Parkinson'S Disease

Pd - [Parkinson Disease]

Parkinson Disease Nos

Parkinson, Nos

Primary Parkinson Disease
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-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 HIP1R VGNC VGNC:29858
Felis catus HIP1R VGNC VGNC:62818
Mus musculus HIP1R MGD MGI:1352504
Macaca mulatta HIP1R VGNC VGNC:73412
Rattus norvegicus HIP1R RGD RGD:621615
Canis familiaris HIP1R VGNC VGNC:41692
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