2. Gene
  3. AGAP3 - ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 Gene

AGAP3 - ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 Gene

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

中文名称：具有 GTPase 结构域、锚蛋白重复序列和 PH 结构域 3 的 ArfGAP

种属: Homo sapiens

同用名: CRAG; AGAP-3; CENTG3; MRIP-1; cnt-g3

基因 ID: 116988 | 基因类型: protein coding

关于 AGAP3

Cytogenetic location: 7q36.1 Genomic coordinates (GRCh38): 7:151,085,867-151,144,434 (from NCBI)

This gene has 26 transcripts (splice variants), 199 orthologues and 28 paralogues. Ubiquitous expression in brain (RPKM 17.1), lung (RPKM 9.1) and 25 other tissues.

功能概要

该基因编码 N-甲基-D-天冬氨酸 (NMDA) 受体信号复合物的重要成分，该复合物通过将 NMDA 受体的激活与 α-amino-3-hydroxy-5-methyl-4- 联系起来介导突触的长期增强异恶唑丙酸 (AMPA) 受体运输。编码的蛋白质包含一个 N 端 GTPase 样结构域、一个 pleckstrin 同源结构域、一个 ArfGAP 结构域和几个 C 端 ankryn 重复结构域。[RefSeq 提供，2017 年 4 月]

This gene encodes an essential component of the N-methyl-D-aspartate (NMDA) receptor signaling complex which mediates long-term potentiation in synapses by linking activation of NMDA Receptor to alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA) receptor trafficking. The encoded protein contains an N-terminal GTPase-like domain, a pleckstrin homology domain, an ArfGAP domain and several C-terminal ankryn repeat domains. [provided by RefSeq, Apr 2017]

AGAP3 基因产物(8)

mRNA Protein Name
NM_001042535.4 NP_001036000.1 arf-GAP with GTPase, ANK repeat and PH domain-containing protein 3 isoform b
NM_001281300.2 NP_001268229.1 arf-GAP with GTPase, ANK repeat and PH domain-containing protein 3 isoform c
NM_001308304.2 NP_001295233.1 arf-GAP with GTPase, ANK repeat and PH domain-containing protein 3 isoform d
NM_001308305.2 NP_001295234.1 arf-GAP with GTPase, ANK repeat and PH domain-containing protein 3 isoform e
NM_001350102.2 NP_001337031.1 arf-GAP with GTPase, ANK repeat and PH domain-containing protein 3 isoform f
NM_001350103.2 NP_001337032.1 arf-GAP with GTPase, ANK repeat and PH domain-containing protein 3 isoform g
NM_001350104.2 NP_001337033.1 arf-GAP with GTPase, ANK repeat and PH domain-containing protein 3 isoform h
NM_031946.7 NP_114152.3 arf-GAP with GTPase, ANK repeat and PH domain-containing protein 3 isoform a

AGAP3 蛋白结构

Roc

Roc: Ras of Complex, Roc, domain of DAPkinase (129 - 236)

PH

PH: PH domain (405 - 638)

ArfGap

ArfGap: Putative GTPase activating protein for Arf (665 - 775)

Ank_2

Ank_2: Ankyrin repeats (3 copies) (790 - 879)

  • 0
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  • 911 a.a.
蛋白主名 其他名称

arf-GAP with GTPase, ANK repeat and PH domain-containing protein 3

CRAM-associated GTPase

关联疾病

疾病名称 别名
Machado-Joseph Disease

SCA3

MJD

Spinocerebellar Ataxia 3

Azorean Disease

Spinocerebellar Ataxia Type 3

Spinocerebellar Atrophy

Azorean Neurologic Disease

Spinopontine Atrophy

Nigrospinodentatal Degeneration

Spinocerebellar Atrophy Iii

Spinocerebellar Atrophy Type 3

Azorean Ataxia

Azorean Disease Of The Nervous System

Machado Disease

Nigro-Spino-Dentatal Degeneration With Nuclear Ophthalmoplegia

Disease, Machado-Joseph

Ataxia, Spinocerebellar
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-RS00439 AGAP3 Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Mus musculus AGAP3 MGD MGI:2183446
Canis familiaris AGAP3 VGNC VGNC:51785
Felis catus AGAP3 VGNC VGNC:59675
Bos taurus AGAP3 VGNC VGNC:25721
Rattus norvegicus AGAP3 RGD RGD:1310751
Macaca mulatta AGAP3 VGNC VGNC:69621
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