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  2. RPS6KA3 - ribosomal protein S6 kinase A3 Gene

RPS6KA3 - ribosomal protein S6 kinase A3 Gene

中文名称:核糖体蛋白 S6 激酶 A3

种属: Homo sapiens

同用名: CLS; RSK; HU-3; RSK2; MRX19; ISPK-1; XLID19; p90-RSK2; pp90RSK2; MAPKAPK1B; S6K-alpha3

基因 ID: 6197 | 基因类型: protein coding

关于 RPS6KA3

Cytogenetic location: Xp22.12 Genomic coordinates (GRCh38): X:20,149,911-20,267,097 (from NCBI)

This gene has 16 transcripts (splice variants), 252 orthologues, 7 paralogues and is associated with 8 phenotypes. Ubiquitous expression in appendix (RPKM 16.2), colon (RPKM 16.0) and 25 other tissues.

功能概要

该基因编码丝氨酸/苏氨酸激酶 RSK (核糖体 S6 激酶) 家族的成员。该激酶包含 2 个不同的激酶催化结构域并磷酸化各种底物,包括有丝分裂原活化激酶 (MAPK) 信号通路的成员。这种蛋白质的活性与控制细胞生长和分化有关。该基因的突变与 Coffin-Lowry 综合征 (CLS) 有关。[RefSeq 提供,2008 年 7 月]

This gene encodes a member of the RSK (ribosomal S6 kinase) family of serine/threonine kinases. This kinase contains 2 non-identical kinase catalytic domains and phosphorylates various substrates, including members of the mitogen-activated kinase (MAPK) signalling pathway. The activity of this protein has been implicated in controlling cell growth and differentiation. Mutations in this gene have been associated with Coffin-Lowry syndrome (CLS). [provided by RefSeq, Jul 2008]

RPS6KA3 基因产物(17)

mRNA Protein Name
XM_011545555.2 XP_011543857.1 ribosomal protein S6 kinase alpha-3 isoform X1
XM_017029718.3 XP_016885207.1 ribosomal protein S6 kinase alpha-3 isoform X10
XM_005274577.4 XP_005274634.1 ribosomal protein S6 kinase alpha-3 isoform X12
XM_047442334.1 XP_047298290.1 ribosomal protein S6 kinase alpha-3 isoform X8
XM_017029717.3 XP_016885206.1 ribosomal protein S6 kinase alpha-3 isoform X8
NM_004586.3 NP_004577.1 ribosomal protein S6 kinase alpha-3
XM_011545561.3 XP_011543863.1 ribosomal protein S6 kinase alpha-3 isoform X6
XM_017029719.3 XP_016885208.1 ribosomal protein S6 kinase alpha-3 isoform X11
XM_047442332.1 XP_047298288.1 ribosomal protein S6 kinase alpha-3 isoform X3
XM_011545557.3 XP_011543859.1 ribosomal protein S6 kinase alpha-3 isoform X6
XM_011545560.2 XP_011543862.1 ribosomal protein S6 kinase alpha-3 isoform X6
XM_005274573.3 XP_005274630.1 ribosomal protein S6 kinase alpha-3 isoform X4
XM_047442336.1 XP_047298292.1 ribosomal protein S6 kinase alpha-3 isoform X11
XM_011545562.3 XP_011543864.1 ribosomal protein S6 kinase alpha-3 isoform X7
XM_011545556.2 XP_011543858.1 ribosomal protein S6 kinase alpha-3 isoform X2
XM_047442333.1 XP_047298289.1 ribosomal protein S6 kinase alpha-3 isoform X5
XM_047442335.1 XP_047298291.1 ribosomal protein S6 kinase alpha-3 isoform X9
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables cysteine-type endopeptidase inhibitor activity involved in apoptotic process IDA
IDA: 通过直接分析推断
18402937 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
10094392 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in negative regulation of apoptotic process IDA
IDA: 通过直接分析推断
18402937 GOA
involved in positive regulation of transcription by RNA polymerase II IMP
IMP: 通过突变表型推断
22065586 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

RPS6KA3 蛋白结构

Pkinase

Pkinase: Protein kinase domain (68 - 327)

Pkinase_C

Pkinase_C: Protein kinase C terminal domain (351 - 388)

Pkinase

Pkinase: Protein kinase domain (422 - 679)

  • 0
  • 200
  • 400
  • 600
  • 740 a.a.
蛋白主名 其他名称

ribosomal protein S6 kinase alpha-3

MAP kinase-activated protein kinase 1b

MAPK-activated protein kinase 1b

MAPKAP kinase 1b

MAPKAPK-1b

RSK-2

S6K-alpha-3

epididymis secretory sperm binding protein

insulin-stimulated protein kinase 1

p90-RSK 3

ribosomal S6 kinase 2

ribosomal protein S6 kinase, 90kDa, polypeptide 3

RPS6KA3 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
RPS6KA3 P51812 CSNK2B Homo sapiens P67870 32707033
种属内
RPS6KA3 P51812 CSNK2B Homo sapiens P67870 35271311
种属内
RPS6KA3 P51812 CSNK2B Homo sapiens P67870 31980649
种属内
RPS6KA3 P51812 CSNK2B Homo sapiens P67870
Y2H
10094392
种属内
RPS6KA3 P51812 HSP90AB1 Homo sapiens P08238 31980649
种属内
RPS6KA3 P51812 HSP90AB1 Homo sapiens P08238 22939624
种属内
RPS6KA3 P51812 MAPK1 Homo sapiens P28482 32707033
种属内
RPS6KA3 P51812 MAPK1 Homo sapiens P28482
PLA
25241761
种属内
RPS6KA3 P51812 MAPK1 Homo sapiens P28482
Y2H
21988832
种属间
RPS6KA3 P51812 yopM Yersinia enterocolitica serotype O:8/biotype 1B A1JU68 25513777
种属间: 跨种属相互作用 种属内: 同种属相互作用

RPS6KA3 抗体

目录号 产品名 应用 反应物种
HY-P80850 Phospho-RSK2 (Ser227) Antibody WB, IP Human, Mouse, Rat

关联疾病

疾病名称 别名
Intellectual Developmental Disorder, X-Linked 19

XLID19

Mrx19

Mrx31

Chromosome 16p13.3 Deletion Syndrome, Proximal

Rubinstein-Taybi Syndrome

Broad Thumb-Hallux Syndrome

Chromosome 16p13.3 Deletion Syndrome

Rubinstein-Taybi Syndrome Due To 16p13.3 Microdeletion

Rubinstein Syndrome

Broad Thumbs-Halluces Syndrome

Rsts

Rubinstein-Taybi Deletion Syndrome

Rsts Deletion Syndrome

Proximal Chromosome 16p13.3 Deletion Syndrome

16p13.3 Deletion Syndrome

Broad Thumbs And Great Toes, Characteristic Facies, And Mental Retardation

Rts

Hypertelorism

Eyes Wide Apart

Eyes Widely Set

Hypertelorism Of Orbit

Ocular Hypertelorism

Orbital Separation Excessive

Rasopathy

Ras/Mitogen-Activated Protein Kinase Syndrome

Ventricular Septal Defect

Ventricular Septal Defects

Interventricular Septal Defect

Heart Septal Defects, Ventricular

Ventricular Septal Abnormality

Interventricular Septum Defect

Ventricular Septum Defect

Vsd - [Ventricular Septum Defect]

Congenital Ventricular Septal Defect

Single Ventricular Septal Defect

Non-Syndromic X-Linked Intellectual Disability

X-Linked Non-Syndromic Intellectual Disability

Non-Specific X-Linked Mental Retardation

X-Linked Non-Specific Intellectual Disability

Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Non-Syndromic X-Linked Intellectual Disability 73

Mrx73

X-Linked Mental Retardation 73

Coffin-Lowry Syndrome

CLS

Mental Retardation With Osteocartilaginous Abnormalities

Coffin Syndrome 1

Coffin Syndrome

Dwarfism, Lean Spastic Type

Lean Spastic Dwarfism

Coffin Lowry Syndrome

Non-Syndromic X-Linked Intellectual Disability 19

Mrx19

Orthostatic Intolerance

Mitral Valve Prolapse

Neurocirculatory Asthenia

Mitral Valve Prolapse Syndrome

Irritable Heart

Systolic Click-Murmur Syndrome

Soldiers Heart

Cardiovascular Malfunction Arising From Mental Factors

Cardiovascular Neurosis

Da Costa'S Syndrome

Krishaber'S Disease

Barlow'S Syndrome

Floppy Mitral Valve

Mitral Leaflet Syndrome

Myxomatous Mitral Valve Prolapse

Postural Orthostatic Tachycardia Syndrome Due To Net Deficiency

Familial Orthostatic Tachycardia Due To Norepinephrine Transporter Deficiency

Orthostatic Intolerance Due To Net Deficiency

Pots Due To Net Deficiency

OI

Intolerance, Orthostatic

Mitral Valve Prolapse, Familial, X-Linked

Ballooning Mitral Valve

Barlow Syndrome

Flail Mitral Leaflet

Myxomatous Mitral Valve

Mitral Valve Prolapse-Click Syndrome

Prolapsing Mitral Valve Leaflet Syndrome

Billowing Mitral Valve Leaflet

Posterior Mitral Leaflet Deformity

Ballooning Posterior Leaflet Syndrome

Blue Valve Syndrome

Floppy Mitral Valve Syndrome

Mitral Valvular Prolapse

Systolic Click Syndrome

Hypotonia
Specific Learning Disability

Specific Learning Difficulty

Specific Learning Disorder

Hemochromatosis, Type 1

Hemochromatosis

Hemochromatosis Type 1

Hereditary Hemochromatosis

Hh

HFE1

Hfe Hemochromatosis, Modifier Of

Symptomatic Form Of Classic Hemochromatosis

Symptomatic Form Of Hemochromatosis Type 1

Symptomatic Form Of Hfe-Related Hereditary Hemochromatosis

Haemochromatosis

Iron Storage Disorder

Bronze Diabetes

Hlah

Hfe

Hemochromatosis, Hereditary

Diabetes Bronze

Classic Hemochromatosis

Hfe-Associated Hereditary Hemochromatosis

Hemochromatosis Classic

Bronzed Cirrhosis

Familial Hemochromatosis

Genetic Hemochromatosis

Hc

Hereditary Haemochromatosis

Pigmentary Cirrhosis

Primary Hemochromatosis

Troisier-Hanot-Chauffard Syndrome

Von Recklenhausen-Applebaum Disease

Hemochromatosis 1

Primary Hereditary Hemochromatosis

Bronze Cirrhosis

Gastroesophageal Reflux

Gastroesophageal Reflux Disease

Gerd

GER

Gastroesophageal Reflux, Pediatric

Acid Reflux

Gastresophageal Reflux

Gastro-Esophageal Reflux

Gerd - Gastro-Esophageal Reflux Disease

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
Rattus norvegicus RPS6KA3 RGD RGD:1563860
Mus musculus RPS6KA3 MGD MGI:104557
Canis familiaris RPS6KA3 VGNC VGNC:45740
Bos taurus RPS6KA3 VGNC VGNC:34142
Macaca mulatta RPS6KA3 VGNC VGNC:76929
Felis catus RPS6KA3 VGNC VGNC:64756
Others RPS6KA3 NCBI