2. Gene
  3. PAK1 - p21 (RAC1) activated kinase 1 Gene

PAK1 - p21 (RAC1) activated kinase 1 Gene

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

中文名称：p21 (RAC1) 激活激酶 1

种属: Homo sapiens

同用名: IDDMSSD; p65-PAK; PAKalpha; alpha-PAK

基因 ID: 5058 | 基因类型: protein coding

关于 PAK1

Cytogenetic location: 11q13.5-q14.1 Genomic coordinates (GRCh38): 11:77,322,017-77,530,009 (from NCBI)

This gene has 20 transcripts (splice variants), 217 orthologues, 35 paralogues and is associated with 2 phenotypes. Ubiquitous expression in brain (RPKM 55.5), thyroid (RPKM 19.6) and 23 other tissues.

功能概要

该基因编码丝氨酸/苏氨酸 p21 激活激酶家族成员，称为 PAK 蛋白。这些蛋白质是将 RhoGTPases 与细胞骨架重组和核信号联系起来的关键效应子，它们是小 GTP 结合蛋白 Cdc42 和 Rac 的靶标。这个特定的家族成员调节细胞运动和形态。该基因的突变与巨头畸形、癫痫发作和言语延迟有关。在许多癌症类型中也报道了该基因的过度表达，尤其是在乳腺癌中。可变剪接导致多个转录本变体。[RefSeq 提供，2020 年 8 月]

This gene encodes a family member of serine/threonine p21-activating kinases, known as PAK proteins. These proteins are critical effectors that link RhoGTPases to Cytoskeleton reorganization and nuclear signaling, and they serve as targets for the small GTP binding proteins Cdc42 and Rac. This specific family member regulates cell motility and morphology. Mutations in this gene have been associated with macrocephaly, seizures, and speech delay. Overexpression of this gene is also reported in many Cancer types, and particularly in breast Cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2020]

PAK1 基因产物(50)

mRNA Protein Name
NM_001376294.1 NP_001363223.1 serine/threonine-protein kinase PAK 1 isoform 8
NM_001376272.1 NP_001363201.1 serine/threonine-protein kinase PAK 1 isoform 3
NM_001376305.1 NP_001363234.1 serine/threonine-protein kinase PAK 1 isoform 13
NM_001376280.1 NP_001363209.1 serine/threonine-protein kinase PAK 1 isoform 2
NM_001376271.1 NP_001363200.1 serine/threonine-protein kinase PAK 1 isoform 1
NM_001376286.1 NP_001363215.1 serine/threonine-protein kinase PAK 1 isoform 2
NM_001376302.1 NP_001363231.1 serine/threonine-protein kinase PAK 1 isoform 11
NM_001376292.1 NP_001363221.1 serine/threonine-protein kinase PAK 1 isoform 7
NM_001376293.1 NP_001363222.1 serine/threonine-protein kinase PAK 1 isoform 7
XM_024448558.2 XP_024304326.1 serine/threonine-protein kinase PAK 1 isoform X3
XM_047427053.1 XP_047283009.1 serine/threonine-protein kinase PAK 1 isoform X4
XM_047427054.1 XP_047283010.1 serine/threonine-protein kinase PAK 1 isoform X4
XM_047427052.1 XP_047283008.1 serine/threonine-protein kinase PAK 1 isoform X3
NR_164798.1
XM_047427046.1 XP_047283002.1 serine/threonine-protein kinase PAK 1 isoform X1
NM_001376281.1 NP_001363210.1 serine/threonine-protein kinase PAK 1 isoform 2
NM_001376282.1 NP_001363211.1 serine/threonine-protein kinase PAK 1 isoform 2
NM_001376285.1 NP_001363214.1 serine/threonine-protein kinase PAK 1 isoform 2
NM_001376269.1 NP_001363198.1 serine/threonine-protein kinase PAK 1 isoform 1
XM_047427050.1 XP_047283006.1 serine/threonine-protein kinase PAK 1 isoform X3
NM_001376284.1 NP_001363213.1 serine/threonine-protein kinase PAK 1 isoform 2
NM_001376295.1 NP_001363224.1 serine/threonine-protein kinase PAK 1 isoform 9
NM_001376270.1 NP_001363199.1 serine/threonine-protein kinase PAK 1 isoform 1
NM_001376303.1 NP_001363232.1 serine/threonine-protein kinase PAK 1 isoform 12
XM_024448557.2 XP_024304325.1 serine/threonine-protein kinase PAK 1 isoform X3
NM_001376274.1 NP_001363203.1 serine/threonine-protein kinase PAK 1 isoform 2
NM_001376277.1 NP_001363206.1 serine/threonine-protein kinase PAK 1 isoform 2
XM_024448560.2 XP_024304328.1 serine/threonine-protein kinase PAK 1 isoform X4
XM_024448559.2 XP_024304327.1 serine/threonine-protein kinase PAK 1 isoform X3
XM_047427051.1 XP_047283007.1 serine/threonine-protein kinase PAK 1 isoform X3
NM_001376268.1 NP_001363197.1 serine/threonine-protein kinase PAK 1 isoform 1
NM_001376289.1 NP_001363218.1 serine/threonine-protein kinase PAK 1 isoform 5
NM_001376273.1 NP_001363202.1 serine/threonine-protein kinase PAK 1 isoform 2
NM_001376290.1 NP_001363219.1 serine/threonine-protein kinase PAK 1 isoform 6
XM_047427049.1 XP_047283005.1 serine/threonine-protein kinase PAK 1 isoform X3
XM_047427047.1 XP_047283003.1 serine/threonine-protein kinase PAK 1 isoform X2
NM_001128620.2 NP_001122092.1 serine/threonine-protein kinase PAK 1 isoform 1
NM_001376279.1 NP_001363208.1 serine/threonine-protein kinase PAK 1 isoform 2
XM_047427048.1 XP_047283004.1 serine/threonine-protein kinase PAK 1 isoform X3
NM_001376291.1 NP_001363220.1 serine/threonine-protein kinase PAK 1 isoform 6
NM_001376288.1 NP_001363217.1 serine/threonine-protein kinase PAK 1 isoform 4
NM_001376275.1 NP_001363204.1 serine/threonine-protein kinase PAK 1 isoform 2
NM_001376304.1 NP_001363233.1 serine/threonine-protein kinase PAK 1 isoform 13
NM_001376283.1 NP_001363212.1 serine/threonine-protein kinase PAK 1 isoform 2
NM_001376276.1 NP_001363205.1 serine/threonine-protein kinase PAK 1 isoform 2
NM_001376301.1 NP_001363230.1 serine/threonine-protein kinase PAK 1 isoform 10
NM_002576.5 NP_002567.3 serine/threonine-protein kinase PAK 1 isoform 2
NM_001376287.1 NP_001363216.1 serine/threonine-protein kinase PAK 1 isoform 2
NM_001376278.1 NP_001363207.1 serine/threonine-protein kinase PAK 1 isoform 2
NR_164797.1

PAK1 蛋白结构

PBD

PBD: P21-Rho-binding domain (74 - 132)

Pkinase

Pkinase: Protein kinase domain (270 - 521)

  • 0
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  • 500
  • 545 a.a.
蛋白主名 其他名称

serine/threonine-protein kinase PAK 1

STE20 homolog, yeast

p21 protein (Cdc42/Rac)-activated kinase 1

p21/Cdc42/Rac1-activated kinase 1 (STE20 homolog, yeast)

p21/Cdc42/Rac1-activated kinase 1 (yeast Ste20-related)

重组 PAK1 蛋白

目录号 产品名 蛋白编号 纯度
HY-P71530 PAK1 Protein, Human (His-SUMO) Q13153-1 (M1-H545) ≥95%

关联疾病

疾病名称 别名
Granulomatous Disease, Chronic, Autosomal Recessive, 2

Chronic Granulomatous Disease Due To Deficiency Of Ncf-2

CGD2

Ncf2 Deficiency

P67-Phox Deficiency

Autosomal Recessive Chronic Granulomatous Disease Cytochrome B-Positive Type Ii

Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type 2

Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Ii

Cgd, Autosomal Recessive Cytochrome B-Positive, Type Ii

Granulomatous Disease, Chronic, Due To Ncf2 Deficiency

Neutrophil Cytosol Factor 2 Deficiency

Chronic Granulomatous Disease 2, Autosomal Recessive

Autosomal Recessive Chronic Granulomatous Disease 2

Cdg2

Deficiency Of Ncf2

Deficiency Of P67-Phox

Chronic Granulomatous Disease Autosomal Recessive Cytochrome B-Positive Type Ii

Deficiency Of Neutrophil Cytosol Factor 2

Avellino Corneal Dystrophy
Breast Cancer

Breast Carcinoma

Breast Cancer, Familial

Malignant Neoplasm Of Breast

Male Breast Cancer

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
Neurofibromatosis

Neurofibromatoses

Acoustic Neurofibromatosis

Central Neurofibromatosis

Peripheral Neurofibromatosis

Recklinghausen'S Neurofibromatosis

Von Reklinghausen Disease

Neurofibromatosis Type 1
Colorectal Cancer

Colon Cancer

Colorectal Carcinoma

Colon Carcinoma

Colorectal Cancer, Susceptibility To

Carcinoma Of Colon

CRC

Colorectal Cancer With Chromosomal Instability, Somatic

Colon Cancer, Somatic

Colon Cancer, Susceptibility To

Colonic Neoplasms

Colorectal Neoplasms

Colorectal Cancer, Somatic

Colon Cancer, Advanced, Somatic

Colonic Carcinoma

Colorectal Carcinomas

Colon Cancers

Colorectal Cancers

Cancer, Colorectal, Somatic

Cancer, Colon

Cancer, Colorectal, Susceptibility To

Colorectal Neoplasm

Colonic Neoplasm

Malignant Tumor Of Colon
Gastric Cancer

Stomach Cancer

Stomach Carcinoma

Gastric Carcinoma

Gastric Cancer, Somatic

Gastric Neoplasm

Carcinoma Of Stomach

Stomach Neoplasms

Malignant Neoplasm Of Stomach

Gastric Cancer Risk After H. Pylori Infection

Cancer Of The Stomach

Adult Stomach Cancer

Adult Stomach Carcinoma

GASC

Gastric Cancer Intestinal

Gastric Cancers

Gastric Carcinomas

Cancer, Gastric

Stomach Neoplasm

Malignant Neoplasm Of Body Of Stomach

Malignant Tumor Of Lesser Curve Of Stomach

Gastrocarcinoma Of Unspecified Site

Leather Bottle Stomach

Carcinoma Of Fundus Of Stomach

Cancer Of Fundus Of Stomach

Primary Malignant Neoplasm Of Body Of Stomach

Cancer Of Body Of Stomach

Primary Malignant Neoplasm Of Pyloric Antrum

Pyloric Antrum Cancer

Malignant Tumour Of Stomach
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay

IDDMSSD
Endometrial Cancer

Endometrial Carcinoma

Endometrial Neoplasm

Malignant Neoplasm Of Endometrium

Endometrioid Carcinoma

Endometrial Neoplasms

Carcinoma, Endometrioid

Endometrial Cancer, Familial

Endometrial Carcinoma, Somatic

Endometrial Cancer, Susceptibility To

Endometrial Ca

Malignant Endometrial Neoplasm

Neoplasm Of Endometrium

Primary Malignant Neoplasm Of Endometrium

Tumor Of Endometrium

Carcinoma Of The Endometrium

Endometrioid Carcinoma Of Female Reproductive System

ENDMC

Carcinoma Endometrioid

Endometrial Cancers

Cancer, Endometrial

Uterine Corpus Cancer
Prolapse Of Urethra

Urethrocele
Melanoma

Malignant Melanoma

Cutaneous Melanoma

Naevocarcinoma

Malignant Melanomas
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

Approval
生物活性分子 (3)
目录号 产品名 作用方式
纯度 是否罕见病
HY-12005 Fingolimod hydrochloride Activator 99.95% 是
HY-15027 5-Aminosalicylic Acid Inhibitor 99.82% 否
HY-11063 Fingolimod Activator 99.97% 是
Clinical Phase
生物活性分子 (1)
目录号 产品名 作用方式
纯度 Phase
HY-13007 PF-3758309 Inhibitor 99.84% Phase 1
Pre-clinical Phase
生物活性分子 (18)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-15663 IPA-3 Inhibitor 99.43% 否
HY-15542A FRAX597 Inhibitor 99.79% 否
HY-15542B FRAX486 Inhibitor 98.01% 否
HY-19635 G-5555 Inhibitor 99.88% 否
HY-19538 FRAX1036 Inhibitor 99.49% 否
HY-120940 AZ13705339 Inhibitor 98.90% 否
HY-19635A G-5555 hydrochloride Inhibitor 98.78% 否
HY-131043 NVS-PAK1-C Inhibitor ≥99.0% 否
HY-120940A AZ13705339 hemihydrate Inhibitor 99.77% 否
HY-146783 ZINC194100678 Inhibitor / 否
HY-131265 Mesalamine impurity P Inhibitor / 否
HY-146681 PAK1-IN-1 Inhibitor / 否
HY-13007B PF-3758309 dihydrochloride Inhibitor / 否
HY-116917 G-9791 Inhibitor / 否
HY-13007A PF-3758309 hydrochloride Inhibitor / 否
HY-110085 2,2′-Dihydroxy-6,6′-dinaphthyl disulfide Inhibitor / 否
HY-146786 ZMF-10 Inhibitor / 否
HY-164374 AK963/40708899 Inhibitor / 否

直系同源

种属 基因名 来源 基因 ID
Mus musculus PAK1 MGD MGI:1339975
Canis familiaris PAK1 VGNC VGNC:52285
Felis catus PAK1 VGNC VGNC:81962
Bos taurus PAK1 VGNC VGNC:53657
Rattus norvegicus PAK1 RGD RGD:3250
Macaca mulatta PAK1 VGNC VGNC:101373
Others PAK1 NCBI
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