2. Gene
  3. HAP1 - huntingtin associated protein 1 Gene

HAP1 - huntingtin associated protein 1 Gene

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

中文名称：亨廷顿相关蛋白 1

种属: Homo sapiens

同用名: HLP; HAP2; HIP5; hHLP1

基因 ID: 9001 | 基因类型: protein coding

关于 HAP1

Cytogenetic location: 17q21.2 Genomic coordinates (GRCh38): 17:41,717,739-41,734,646 (from NCBI)

This gene has 7 transcripts (splice variants), 168 orthologues and 2 paralogues. Biased expression in stomach (RPKM 6.7), brain (RPKM 3.4) and 9 other tissues.

功能概要

亨廷顿舞蹈病 (HD) 是一种以纹状体神经元丢失为特征的神经退行性疾病，是由 HD 蛋白亨廷顿蛋白中的聚谷氨酰胺束扩张引起的。该基因编码一种与亨廷顿蛋白、两种细胞骨架蛋白 (动力蛋白和中心周自身抗原蛋白 1) 以及肝细胞生长因子调节的酪氨酸激酶底物相互作用的蛋白质。与细胞骨架蛋白和激酶底物的相互作用表明该蛋白在囊泡运输或细胞器运输中发挥作用。已经针对该基因描述了几种编码不同亚型的可变剪接转录物变体。[RefSeq 提供，2008 年 7 月]

Huntington's disease (HD), a neurodegenerative disorder characterized by loss of striatal neurons, is caused by an expansion of a polyglutamine tract in the HD protein Huntingtin. This gene encodes a protein that interacts with Huntingtin, with two cytoskeletal proteins (dynactin and pericentriolar autoantigen protein 1), and with a hepatocyte growth factor-regulated tyrosine kinase substrate. The interactions with cytoskeletal proteins and a kinase substrate suggest a role for this protein in vesicular trafficking or organelle transport. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]

HAP1 基因产物(7)

mRNA Protein Name
NM_001079870.1 NP_001073339.1 huntingtin-associated protein 1 isoform 3
NM_001079871.1 NP_001073340.1 huntingtin-associated protein 1 isoform 4
NM_001367459.1 NP_001354388.1 huntingtin-associated protein 1 isoform 5
NM_001367460.1 NP_001354389.1 huntingtin-associated protein 1 isoform 6
NM_001367461.1 NP_001354390.1 huntingtin-associated protein 1 isoform 7
NM_001367462.1 NP_001354391.1 huntingtin-associated protein 1 isoform 8
NM_177977.3 NP_817084.2 huntingtin-associated protein 1 isoform 2
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 protein binding IPI
IPI: 通过物理相互作用推断
7477378 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in protein localization IMP
IMP: 通过突变表型推断
18922795 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in inclusion body IDA
IDA: 通过直接分析推断
21386698 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

HAP1 蛋白结构

HAP1_N

HAP1_N: HAP1 N-terminal conserved region (108 - 460)

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

huntingtin-associated protein 1

HAP-1

HAP1 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
HAP1 P54257 ZNF572 Homo sapiens Q7Z3I7
Validated Y2H
32296183
种属内
HAP1 P54257 AHI1 Homo sapiens Q8N157
Y2H
23532844
种属内
HAP1 P54257 CCDC13 Homo sapiens Q8IYE1
Validated Y2H
32296183
种属内
HAP1 P54257 HDAC4 Homo sapiens P56524-2
Validated Y2H
32296183
种属内
HAP1 P54257 ZNF648 Homo sapiens Q5T619
Validated Y2H
32296183
种属内
HAP1 P54257 AEN Homo sapiens Q8WTP8-2
Validated Y2H
32296183
种属内
HAP1 P54257 ZNF575 Homo sapiens Q86XF7
Validated Y2H
32296183
种属内
HAP1 P54257 PRPF31 Homo sapiens Q8WWY3
Validated Y2H
32296183
种属内
HAP1 P54257 ZFP1 Homo sapiens Q6P2D0
Validated Y2H
32296183
种属内
HAP1 P54257 ZNF124 Homo sapiens Q15973
Validated Y2H
32296183
种属内
HAP1 P54257 PPP1R18 Homo sapiens Q6NYC8
Validated Y2H
32296183
种属内
HAP1 P54257 ZMAT2 Homo sapiens Q96NC0
Validated Y2H
32296183
种属内
HAP1 P54257 ZNF835 Homo sapiens Q9Y2P0
Validated Y2H
32296183
种属内
HAP1 P54257 PKN1 Homo sapiens Q16512
Validated Y2H
32296183
种属内
HAP1 P54257 GABARAPL2 Homo sapiens P60520
Validated Y2H
32296183
种属内
HAP1 P54257 C2CD6 Homo sapiens Q53TS8
Validated Y2H
32296183
种属内
HAP1 P54257 FAM50B Homo sapiens Q9Y247
Validated Y2H
32296183
种属内
HAP1 P54257 CDK18 Homo sapiens Q07002
Validated Y2H
32296183
种属内
HAP1 P54257 RHPN1 Homo sapiens Q8TCX5
Validated Y2H
32296183
种属内
HAP1 P54257 C1orf216 Homo sapiens Q8TAB5
Validated Y2H
32296183
种属内
HAP1 P54257 SCNM1 Homo sapiens Q9BWG6
Validated Y2H
32296183
种属内
HAP1 P54257 ATXN3 Homo sapiens P54252-1
Anti Tag CoIP
21386698
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
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
Spinocerebellar Ataxia 17

Spinocerebellar Ataxia Type 17

SCA17

Huntington Disease-Like 4

Hdl4

Olivopontocerebellar Atrophy V

Cerebelloparenchymal Disorder Ii

Opca5

Cpd2

Sca 17

Ataxia, Spinocerebellar, Type 17
Cyclosporiasis

Cyclosporosis

Cyclospora Infection
Hemophagocytic Lymphohistiocytosis, Familial, 1

Familial Hemophagocytic Lymphohistiocytosis

Fhl

Familial Erythrophagocytic Lymphohistiocytosis

Hemophagocytic Syndrome

FHL1

Hplh1

Hlh1

Fel

Familial Hemophagocytic Lymphohistiocytosis 1

Primary Hemophagocytic Lymphohistiocytosis

Familial Hlh

Hlh

Familial Hemophagocytic Lymphocytosis

Hemophagocytic Lymphohistiocytosis, Familial

Reticulosis, Familial Histiocytic

Hemophagocytic Reticulosis, Familial

Erythrophagocytic Lymphohistiocytosis, Familial

Familial Histiocytic Reticulosis

Familial Hemophagocytic Histiocytosis

Familial Hemophagocytic Reticulosis

Fhlh

Hplh

Primary Hemophagocytic Hymphohistiocytosis

Genetic Hemophagocytic Lymphohistiocytosis

Hemophagocytic Lymphohistiocytosis

Familial Hemophagocytic Lymphohistiocytosis Type 1
Joubert Syndrome 1

Joubert Syndrome

Jbts

Cerebellooculorenal Syndrome 1

JBTS1

Joubert-Boltshauser Syndrome

Cerebelloparenchymal Disorder Iv

Cpd4

Cors1

Joubert Syndrome And Related Disorders

Jsrd

Familial Aplasia Of The Vermis

Joubert Syndrome Related Disorders

Js

Cerebellar Vermis Agenesis

Cerebelloparenchymal Disorder 4

Agenesis Of Cerebellar Vermis

Cerebello-Oculo-Renal Syndrome

Cors

Joubert-Bolthauser Syndrome

Cpd Iv

Classic Joubert Syndrome

Joubert Syndrome Type A

Pure Joubert Syndrome

Cerebello-Oculo-Renal Syndrome 1

Joubert Syndrome-1

Joubert Syndrome, Type 1

Joubert'S Syndrome
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-150221 DB008 Inhibitor 98.78% 否
HY-P4096 HAP-1 / 否
HY-RS06000 HAP1 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus HAP1 RGD RGD:68327
Canis familiaris HAP1 VGNC VGNC:41592
Mus musculus HAP1 MGD MGI:1261831
Bos taurus HAP1 VGNC VGNC:107270
Others HAP1 NCBI
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