1. Gene
  2. PAK3 - p21 (RAC1) activated kinase 3 Gene

PAK3 - p21 (RAC1) activated kinase 3 Gene

中文名称:p21 (RAC1) 激活激酶 3

种属: Homo sapiens

同用名: ARA; bPAK; MRX30; MRX47; OPHN3; PAK-3; XLID30; PAK3beta; beta-PAK

基因 ID: 5063 | 基因类型: protein coding

关于 PAK3

Cytogenetic location: Xq23 Genomic coordinates (GRCh38): X:110,944,397-111,227,361 (from NCBI)

This gene has 12 transcripts (splice variants), 213 orthologues, 35 paralogues and is associated with 4 phenotypes. Biased expression in brain (RPKM 8.0), pancreas (RPKM 3.0) and 11 other tissues.

功能概要

该基因编码的蛋白质是一种丝氨酸-苏氨酸激酶,与 GTP 结合的 Ras 样 (P21) 、CDC2 和 RAC1 形成活化复合物。这种蛋白质对于树突发育和与突触可塑性相关的树突棘中的快速细胞骨架重组可能是必需的。该基因的缺陷是 X 连锁智力障碍的非综合征形式的原因。已经鉴定出编码不同亚型的选择性剪接转录物变体。[RefSeq 提供,2017 年 7 月]

The protein encoded by this gene is a serine-threonine kinase and forms an activated complex with GTP-bound RAS-like (P21), CDC2 and RAC1. This protein may be necessary for dendritic development and for the rapid cytoskeletal reorganization in dendritic spines associated with synaptic plasticity. Defects in this gene are the cause of a non-syndromic form of X-linked intellectual disability. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2017]

PAK3 基因产物(43)

mRNA Protein Name
XM_047442149.1 XP_047298105.1 serine/threonine-protein kinase PAK 3 isoform X4
NR_136740.2
NM_001324326.2 NP_001311255.1 serine/threonine-protein kinase PAK 3 isoform a
NM_001324329.2 NP_001311258.1 serine/threonine-protein kinase PAK 3 isoform d
XM_047442146.1 XP_047298102.1 serine/threonine-protein kinase PAK 3 isoform X3
NM_001324325.2 NP_001311254.1 serine/threonine-protein kinase PAK 3 isoform a
NR_136744.2
XM_011530971.3 XP_011529273.1 serine/threonine-protein kinase PAK 3 isoform X6
XM_017029558.2 XP_016885047.1 serine/threonine-protein kinase PAK 3 isoform X3
XM_047442147.1 XP_047298103.1 serine/threonine-protein kinase PAK 3 isoform X3
XM_005262133.4 XP_005262190.1 serine/threonine-protein kinase PAK 3 isoform X3
NM_002578.5 NP_002569.1 serine/threonine-protein kinase PAK 3 isoform a
NM_001128168.3 NP_001121640.1 serine/threonine-protein kinase PAK 3 isoform b
NM_001324330.2 NP_001311259.1 serine/threonine-protein kinase PAK 3 isoform a
NM_001324332.2 NP_001311261.1 serine/threonine-protein kinase PAK 3 isoform a
XM_006724655.3 XP_006724718.1 serine/threonine-protein kinase PAK 3 isoform X1
NR_136747.2
NR_136746.2
NR_136741.2
NM_001128167.3 NP_001121639.1 serine/threonine-protein kinase PAK 3 isoform a
XM_047442148.1 XP_047298104.1 serine/threonine-protein kinase PAK 3 isoform X4
NM_001128173.3 NP_001121645.1 serine/threonine-protein kinase PAK 3 isoform d
NR_136743.2
XM_047442150.1 XP_047298106.1 serine/threonine-protein kinase PAK 3 isoform X5
XM_011530969.2 XP_011529271.1 serine/threonine-protein kinase PAK 3 isoform X1
XM_017029557.2 XP_016885046.1 serine/threonine-protein kinase PAK 3 isoform X2
NR_136742.2
NM_001324328.2 NP_001311257.1 serine/threonine-protein kinase PAK 3 isoform d
NM_001324333.2 NP_001311262.1 serine/threonine-protein kinase PAK 3 isoform d
NM_001128166.3 NP_001121638.1 serine/threonine-protein kinase PAK 3 isoform a
NM_001128172.2 NP_001121644.1 serine/threonine-protein kinase PAK 3 isoform c
NM_001324334.2 NP_001311263.1 serine/threonine-protein kinase PAK 3 isoform a
XM_005262132.3 XP_005262189.1 serine/threonine-protein kinase PAK 3 isoform X1
XM_017029559.2 XP_016885048.1 serine/threonine-protein kinase PAK 3 isoform X3
XM_011530968.3 XP_011529270.1 serine/threonine-protein kinase PAK 3 isoform X1
NM_001324327.2 NP_001311256.1 serine/threonine-protein kinase PAK 3 isoform d
XM_006724654.3 XP_006724717.1 serine/threonine-protein kinase PAK 3 isoform X1
NR_136745.2
XM_017029563.2 XP_016885052.1 serine/threonine-protein kinase PAK 3 isoform X7
XM_017029560.2 XP_016885049.1 serine/threonine-protein kinase PAK 3 isoform X3
NM_001324331.2 NP_001311260.1 serine/threonine-protein kinase PAK 3 isoform a
XM_011530962.2 XP_011529264.1 serine/threonine-protein kinase PAK 3 isoform X1
NR_136748.1

PAK3 蛋白结构

PBD

PBD: P21-Rho-binding domain (69 - 141)

Pkinase

Pkinase: Protein kinase domain (283 - 534)

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  • 559 a.a.
蛋白主名 其他名称

serine/threonine-protein kinase PAK 3

adriamycin resistance-associated

oligophrenin-3

p21 (CDKN1A)-activated kinase 3

p21 protein (Cdc42/Rac)-activated kinase 3

重组 PAK3 蛋白

目录号 产品名 蛋白编号 纯度
HY-P74654 PAK3 Protein, Human (sf9, His) O75914-2 (M1-R544) ≥95%

关联疾病

疾病名称 别名
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

Non-Syndromic X-Linked Intellectual Disability 30

Mrx30

Mrx47

X-Linked Mental Retardation 30/47

X-Linked Mental Retardation 47

Mental Retardation, X-Linked, Type 30/47

Cerebral Palsy

Infantile Cerebral Palsy

Mixed Cerebral Palsy

Palsy Cerebral

Palsy, Cerebral

Cerebral Palsy, Mixed

Syndromic Intellectual Disability
Tetanus Neonatorum

Neonatal Tetanus

NNT

Trismus Neonatorum

Newborn Trismus

Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

Intellectual Developmental Disorder, X-Linked 30

XLID30

Mrx30

Mental Retardation, X-Linked 47

Mrx47

Mental Retardation, X-Linked 30

Endometrial Clear Cell Adenocarcinoma

Clear Cell Carcinoma Of Endometrium

Non-Syndromic X-Linked Intellectual Disability

X-Linked Non-Syndromic Intellectual Disability

Non-Specific X-Linked Mental Retardation

X-Linked Non-Specific Intellectual Disability

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
Canis familiaris PAK3 VGNC VGNC:53550
Mus musculus PAK3 MGD MGI:1339656
Bos taurus PAK3 VGNC VGNC:53659
Rattus norvegicus PAK3 RGD RGD:3251
Others PAK3 NCBI