1. Gene
  2. ABI1 - abl interactor 1 Gene

ABI1 - abl interactor 1 Gene

中文名称:abl 交互器 1

种属: Homo sapiens

同用名: E3B1; ABI-1; ABLBP4; NAP1BP; SSH3BP; SSH3BP1

基因 ID: 10006 | 基因类型: protein coding

关于 ABI1

Cytogenetic location: 10p12.1 Genomic coordinates (GRCh38): 10:26,746,596-26,860,958 (from NCBI)

This gene has 13 transcripts (splice variants), 292 orthologues, 2 paralogues and is associated with 62 phenotypes. Ubiquitous expression in bone marrow (RPKM 23.2), esophagus (RPKM 19.6) and 25 other tissues.

功能概要

该基因编码 Abelson-interactor 衔接蛋白家族的一个成员。这些蛋白质作为几种多蛋白复合物的成分促进信号转导,并通过与 Abelson 酪氨酸激酶的相互作用调节肌动蛋白聚合和细胞骨架重塑。编码的蛋白质作为 WAVE2 复合体的组成部分在巨胞饮作用中发挥作用,并且还与 EPS8 和 SOS1 形成复合体,介导从 Ras 到 Rac 的信号转导。该基因可能在包括黑色素瘤、结肠癌和乳腺癌在内的几种恶性肿瘤的进展中发挥作用,并且涉及该基因的 at (10;11) 染色体易位和 MLL 基因与急性髓性白血病有关。已观察到该基因编码多种亚型的选择性剪接转录变体,该基因的假基因位于 14 号染色体的长臂上。[RefSeq 提供,2011 年 9 月]

This gene encodes a member of the Abelson-interactor family of adaptor proteins. These proteins facilitate signal transduction as components of several multiprotein complexes, and regulate actin polymerization and cytoskeletal remodeling through interactions with Abelson tyrosine kinases. The encoded protein plays a role in macropinocytosis as a component of the WAVE2 complex, and also forms a complex with EPS8 and SOS1 that mediates signal transduction from Ras to Rac. This gene may play a role in the progression of several malignancies including melanoma, colon Cancer and breast Cancer, and a t(10;11) chromosomal translocation involving this gene and the MLL gene has been associated with acute myeloid leukemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 14. [provided by RefSeq, Sep 2011]

ABI1 基因产物(19)

mRNA Protein Name
NM_001012750.3 NP_001012768.1 abl interactor 1 isoform b
NM_001012751.3 NP_001012769.1 abl interactor 1 isoform c
NM_001012752.3 NP_001012770.1 abl interactor 1 isoform d
NM_001178116.2 NP_001171587.1 abl interactor 1 isoform e
NM_001178119.2 NP_001171590.1 abl interactor 1 isoform f
NM_001178120.2 NP_001171591.1 abl interactor 1 isoform g
NM_001178121.2 NP_001171592.1 abl interactor 1 isoform h
NM_001178122.2 NP_001171593.1 abl interactor 1 isoform i
NM_001178123.2 NP_001171594.1 abl interactor 1 isoform j
NM_001178124.2 NP_001171595.1 abl interactor 1 isoform k
NM_001178125.2 NP_001171596.1 abl interactor 1 isoform l
NM_001348029.2 NP_001334958.1 abl interactor 1 isoform m
NM_001348030.2 NP_001334959.1 abl interactor 1 isoform n
NM_001348031.2 NP_001334960.1 abl interactor 1 isoform o
NM_001348032.2 NP_001334961.1 abl interactor 1 isoform p
NM_001348033.2 NP_001334962.1 abl interactor 1 isoform q
NM_001348034.2 NP_001334963.1 abl interactor 1 isoform r
NM_001410909.1 NP_001397838.1 abl interactor 1 isoform s
NM_005470.4 NP_005461.2 abl interactor 1 isoform a
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 SH3 domain binding IPI
IPI: 通过物理相互作用推断
19798448 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
9010225 GOA
enables signaling adaptor activity IDA
IDA: 通过直接分析推断
17101133 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
acts upstream of or within positive regulation of protein tyrosine kinase activity IDA
IDA: 通过直接分析推断
17101133 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of SCAR complex IDA
IDA: 通过直接分析推断
21107423 GOA
located in filopodium tip IDA
IDA: 通过直接分析推断
11516653 GOA
located in lamellipodium IDA
IDA: 通过直接分析推断
11516653 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

ABI1 蛋白结构

Abi_HHR

Abi_HHR: Abl-interactor HHR (93 - 171)

SH3_1

SH3_1: SH3 domain (452 - 496)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 508 a.a.
蛋白主名 其他名称

abl interactor 1

Abelson interactor 1

ABI1 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 ABI1 Q8IZP0 RASA1 Homo sapiens P20936
Array
20598684
Intra ABI1 Q8IZP0 ABL2 Homo sapiens P42684
Array
20598684
Intra ABI1 Q8IZP0 SOCS7 Homo sapiens O14512
Array
20598684
Intra ABI1 Q8IZP0 VAV2 Homo sapiens P52735
Array
20598684
Intra ABI1 Q8IZP0 ABL1 Homo sapiens P00519
Fluorescence
18328268
Intra ABI1 Q8IZP0 ABL1 Homo sapiens P00519
Array
20598684
Intra ABI1 Q8IZP0 ABL1 Homo sapiens P00519
Y2H
11418237
Intra ABI1 Q8IZP0 ABL1 Homo sapiens P00519
Far-WB
18328268
Cross ABI1 Q8IZP0 Eps8 Mus musculus Q08509
Anti Bait CoIP
15289329
Intra ABI1 Q8IZP0 NCKAP1 Homo sapiens Q9Y2A7
Anti Tag CoIP
26496610
Intra ABI1 Q8IZP0 NCKAP1 Homo sapiens Q9Y2A7
Anti Tag CoIP
31980649
Intra ABI1 Q8IZP0 NCKAP1 Homo sapiens Q9Y2A7
Pull Down
15048123
Intra ABI1 Q8IZP0 NCF1 Homo sapiens P14598
Y2H
12681507
Intra ABI1 Q8IZP0 NCF1 Homo sapiens P14598
Anti Bait CoIP
12681507
Intra ABI1 Q8IZP0 VAV1 Homo sapiens P15498
Array
20598684
Cross ABI1 Q8IZP0 Pik3r1 Mus musculus P26450
Pull Down
20598684
Intra ABI1 Q8IZP0 CBLB Homo sapiens Q13191
Array
20598684
Intra ABI1 Q8IZP0 PIK3R1 Homo sapiens P27986
Array
20598684
Intra ABI1 Q8IZP0 PIK3R3 Homo sapiens Q92569
Array
20598684
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
Leukemia

Leukemias

Leukaemia, Unspecified, Without Mention Of Remission

Aleukemic Leukaemia

Chronic Leukaemia

Subacute Leukaemia

Leukaemia Disorder

Leukaemia Nos

Human Granulocytic Anaplasmosis

Human Granulocytic Ehrlichiosis

Hge

Human Ehrlichial Infection, Human Granulocytic Type

Human Anaplasmosis Due To Anaplasma Phagocytophilum

Melanoma

Malignant Melanoma

Cutaneous Melanoma

Naevocarcinoma

Malignant Melanomas

Breast Cancer

Breast Carcinoma

Male Breast Cancer

Breast Cancer, Familial

Malignant Neoplasm Of Breast

Breast Cancer, Susceptibility To

Breast Cancer, Early-Onset

Malignant Tumor Of Breast

Carcinoma Of Male Breast

Breast Cancer, Invasive Ductal

Breast Cancer, Protection Against

Breast Cancer, Somatic

Breast Cancer, Male

Breast Cancer, Lobular, Somatic

Breast Tumor

Mammary Cancer

Mammary Tumor

Malignant Neoplasm Of Male Breast

Mammary Carcinoma

Male Breast Carcinoma

Familial Cancer Of Breast

Invasive Ductal Breast Carcinoma

Breast Cancer Susceptibility

Breast Cancer, Male, Susceptibility To

Breast Cancer, Early-Onset, Susceptibility To

Malignant Tumor Of The Breast

Mammary Neoplasm

Primary Breast Cancer

Neoplasm Of Male Breast

Carcinoma Of Breast

Breast Cancer In Men

Familial Breast Cancer

Cancer Of Breast

BC

Breast Cancer Familial

Breast Cancer Familial Male

Breast Cancer, Familial Male

Breast Male Carcinoma

Breast Neoplasms

Breast Neoplasms, Male

Mammary Tumors

Mammary Carcinomas

Cancer, Breast

Cancer, Breast, Susceptibility

Invasive Breast Ductal Carcinoma

Breast Neoplasm

Susceptibility To Breast Cancer

Mammary Neoplasms

Animal Mammary Neoplasms

Primary Malignant Neoplasm Of Breast

Infiltrating Ductal Carcinoma Of Breast

Infiltrating Duct Carcinoma Of Unspecified Site

Infiltrating Ductular Carcinoma Of Unspecified Site

Invasive Breast Carcinoma Of No Special Type

Microinvasive Carcinoma Of Breast

Carcinoma With Apocrine Differentiation

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
Macaca mulatta ABI1 VGNC VGNC:69377
Canis familiaris ABI1 VGNC VGNC:37474
Felis catus ABI1 VGNC VGNC:83485
Rattus norvegicus ABI1 RGD RGD:621008
Mus musculus ABI1 MGD MGI:104913
Bos taurus ABI1 VGNC VGNC:25505
Others ABI1 NCBI