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  2. ASAP1 - ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 Gene

ASAP1 - ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 Gene

中文名称:具有 SH3 结构域、锚蛋白重复序列和 PH 结构域 1 的 ArfGAP

种属: Homo sapiens

同用名: PAP; PAG2; AMAP1; DDEF1; ZG14P; CENTB4

基因 ID: 50807 | 基因类型: protein coding

关于 ASAP1

Cytogenetic location: 8q24.21-q24.22 Genomic coordinates (GRCh38): 8:130,052,104-130,443,674 (from NCBI)

This gene has 16 transcripts (splice variants), 240 orthologues and 28 paralogues. Ubiquitous expression in bone marrow (RPKM 18.3), spleen (RPKM 15.5) and 24 other tissues.

功能概要

该基因编码一种 ADP 核糖基化因子 (ARF) GTP 酶激活蛋白。 GTPase 激活活性由磷脂酰肌醇 4,5-二磷酸 (PIP2) 刺激,对 ARF1 和 ARF5 更强,对 ARF6 更弱。该基因可能参与膜运输和细胞骨架重塑的调节。已发现该基因编码不同亚型的可变剪接转录物变体。[RefSeq 提供,2011 年 10 月]

This gene encodes an ADP-ribosylation factor (ARF) GTPase-activating protein. The GTPase-activating activity is stimulated by phosphatidylinositol 4,5-biphosphate (PIP2), and is greater towards ARF1 and ARF5, and lesser for ARF6. This gene maybe involved in regulation of membrane trafficking and Cytoskeleton remodeling. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]

ASAP1 基因产物(5)

mRNA Protein Name
NM_001247996.2 NP_001234925.1 arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 1 isoform 2
NM_001362924.1 NP_001349853.1 arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 1 isoform 3
NM_001362925.2 NP_001349854.1 arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 1 isoform 4
NM_001362926.2 NP_001349855.1 arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 1 isoform 5
NM_018482.4 NP_060952.2 arf-GAP with SH3 domain, ANK repeat and PH domain-containing 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 protein binding IPI
IPI: 通过物理相互作用推断
12029088 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cilium assembly IMP
IMP: 通过突变表型推断
20393563 GOA
involved in protein localization to cilium IDA
IDA: 通过直接分析推断
25673879 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in Golgi membrane IDA
IDA: 通过直接分析推断
25673879 GOA
located in trans-Golgi network membrane IDA
IDA: 通过直接分析推断
25673879 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

ASAP1 蛋白结构

PH

PH: PH domain (326 - 414)

ArfGap

ArfGap: Putative GTPase activating protein for Arf (440 - 555)

Ank_2

Ank_2: Ankyrin repeats (3 copies) (585 - 666)

SH3_1

SH3_1: SH3 domain (1074 - 1121)

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  • 1129 a.a.
蛋白主名 其他名称

arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 1

130 kDa phosphatidylinositol 4,5-biphosphate-dependent ARF1 GTPase-activating protein

ASAP1 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
ASAP1 Q9ULH1 HCK Homo sapiens P08631 12029088
种属内
ASAP1 Q9ULH1 HCK Homo sapiens P08631 16636290
种属内
ASAP1 Q9ULH1 SH3KBP1 Homo sapiens Q96B97 17255943
种属内
ASAP1 Q9ULH1 SH3KBP1 Homo sapiens Q96B97 17255943
种属内
ASAP1 Q9ULH1 SH3KBP1 Homo sapiens Q96B97 17255943
种属内
ASAP1 Q9ULH1 SH3KBP1 Homo sapiens Q96B97 15090612
种属内
ASAP1 Q9ULH1 CTTN Homo sapiens Q14247 16636290
种属内
ASAP1 Q9ULH1 CTTN Homo sapiens Q14247 17255943
种属内
ASAP1 Q9ULH1 NCK1 Homo sapiens P16333 16636290
种属内
ASAP1 Q9ULH1 FYN Homo sapiens P06241 16636290
种属内
ASAP1 Q9ULH1 SRC Homo sapiens P12931 17474147
种属内
ASAP1 Q9ULH1 SRC Homo sapiens P12931 16636290
种属内
ASAP1 Q9ULH1 CBLB Homo sapiens Q13191 17255943
种属内
ASAP1 Q9ULH1 PLCG1 Homo sapiens P19174 17474147
种属内
ASAP1 Q9ULH1 PLCG1 Homo sapiens P19174 17474147
种属间
ASAP1 Q9ULH1 apc Crosspus laevis P70039 18786926
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
Laryngeal Benign Neoplasm

Laryngeal Tumor

Larynx Neoplasm

Neoplasm Of Larynx

Laryngeal Cancer

Laryngeal Carcinoma

Cancer Of Larynx

Melanoma, Uveal

Uveal Melanoma

Choroidal Melanoma

Melanoma Of Uvea

Iris Melanoma

Malignant Melanoma Of Choroid

Malignant Melanoma Of Iris

Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1

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

直系同源

种属 基因名 来源 基因 ID
Felis catus ASAP1 VGNC VGNC:59952
Mus musculus ASAP1 MGD MGI:1342335
Rattus norvegicus ASAP1 RGD RGD:1307379
Macaca mulatta ASAP1 VGNC VGNC:69918
Canis familiaris ASAP1 VGNC VGNC:38153
Bos taurus ASAP1 VGNC VGNC:26184