1. Gene
  2. RIPK4 - receptor interacting serine/threonine kinase 4 Gene

RIPK4 - receptor interacting serine/threonine kinase 4 Gene

中文名称:受体相互作用丝氨酸/苏氨酸激酶 4

种属: Homo sapiens

同用名: DIK; PKK; PPS2; RIP4; ANKK2; NKRD3; ANKRD3; CHANDS

基因 ID: 54101 | 基因类型: protein coding

关于 RIPK4

Cytogenetic location: 21q22.3 Genomic coordinates (GRCh38): 21:41,739,373-41,767,052 (from NCBI)

This gene has 2 transcripts (splice variants), 201 orthologues, 1 paralogue and is associated with 5 phenotypes. Broad expression in esophagus (RPKM 16.7), kidney (RPKM 9.9) and 16 other tissues.

功能概要

该基因编码的蛋白质是一种丝氨酸/苏氨酸蛋白激酶,可与蛋白激酶 C-delta 相互作用。编码的蛋白质还可以激活 NFkappaB,并且是角质形成细胞分化所必需的。该激酶经历自身磷酸化。[RefSeq 提供,2008 年 7 月]

The protein encoded by this gene is a serine/threonine protein kinase that interacts with protein kinase C-delta. The encoded protein can also activate NFkappaB and is required for keratinocyte differentiation. This kinase undergoes autophosphorylation. [provided by RefSeq, Jul 2008]

RIPK4 基因产物(1)

mRNA Protein Name
NM_020639.3 NP_065690.2 receptor-interacting serine/threonine-protein kinase 4

RIPK4 蛋白结构

Pkinase

Pkinase: Protein kinase domain (26 - 277)

Ank_2

Ank_2: Ankyrin repeats (3 copies) (461 - 549)

Ank_2

Ank_2: Ankyrin repeats (3 copies) (554 - 614)

Ank_4

Ank_4: Ankyrin repeats (many copies) (619 - 672)

Ank_2

Ank_2: Ankyrin repeats (3 copies) (679 - 747)

Ank_2

Ank_2: Ankyrin repeats (3 copies) (750 - 812)

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

receptor-interacting serine/threonine-protein kinase 4

PKC-delta-interacting protein kinase

关联疾病

疾病名称 别名
Bartsocas-Papas Syndrome 1

Bartsocas-Papas Syndrome

Multiple Pterygium Syndrome, Aslan Type

Popliteal Pterygium Syndrome, Lethal Type

Popliteal Pterygium Syndrome, Bartsocas-Papas Type

BPS

Popliteal Pterygium Syndrome Lethal Type

BPS1

Popliteal Pterygium Syndrome, Bartsocas-Papas Type 1

Pterygium, Popliteal, Lethal Type

Bartsocas Papas Syndrome

Pterygium Popliteal Lethal Type

Autosomal Recessive Popliteal Pterygium Syndrome

Lethal Popliteal Pterygium Syndrome

Chand Syndrome

CHANDS

Curly Hair-Ankyloblepharon-Nail Dysplasia Syndrome

Curly Hair, Ankyloblepharon, Nail Dysplasia Syndrome

Baughman Syndrome

Popliteal Pterygium Syndrome

PPS

Faciogenitopopliteal Syndrome

Facio-Genito-Popliteal Syndrome

Popliteal Web Syndrome

Autosomal Dominant Popliteal Pterygium Syndrome

Cleft Lip/Palate, Paramedian Mucous Cysts Of The Lower Lip, Popliteal Pterygium, Digital And Genital Anomalies

Popliteal Pterygium Syndrome 1

Cleft Lip/Palate Paramedian Mucous Cysts Of The Lower Lip Popliteal Pterygium Digital And Genital Anomalies

Popliteal Pterygium

Fetal Encasement Syndrome

Cocoon Syndrome

COCOS

Fetal Diseases

Synostosis
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate

Hay-Wells Syndrome

Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome

Aec Syndrome

AEC

Ankyloblepharon-Ectodermal Defects-Cleft Lip And Palate Syndrome

Seres-Santamaria Arimany Muniz Syndrome

Cleft Palate, Ankyloblepharon, Alveolar Synechiae, And Ectodermal Defects

Ankyloblepharon Ectodermal Defects Cleft Lip/Palate

Ankyloblepharon-Ectodermal Defect-Cleft Lip/Palate

Rapp-Hodgkin Syndrome

Chronic Cervicitis
Van Der Woude Syndrome

Lip-Pit Syndrome

Vws

Cleft Lip And/Or Palate With Mucous Cysts Of Lower Lip

Vdws

Lps

Lip Pit Syndrome

Cleft Lip/Palate With Mucous Cysts Of Lower Lip

Myopathy, Actin, Congenital, With Excess Of Thin Myofilaments

Multiple Pterygium Syndrome, Escobar Variant

Multiple Pterygium Syndrome

Pterygium

Escobar Syndrome

EVMPS

Pterygium Syndrome

Autosomal Recessive Multiple Pterygium Syndrome

Pterygium Colli Syndrome

Pterygium Universale

Autosomal Recessive Non-Lethal Multiple Pterygium Syndrome

Escobar Variant Multiple Pterygium Syndrome

Multiple Pterygium Syndrome, Nonlethal Type

Surfer'S Eye

Multiple Pterygium Syndrome Escobar Type

Multiple Pterygium Syndrome Nonlethal Type

Familial Pterygium Syndrome

Pterygium Colli

Multiple Pterygium Syndrome, Non-Lethal Type

Nonlethal Type Multiple Pterygium Syndrome

Pterygium Syndrome, Multiple, Escobar Type

Pterygium Of Eye

Web Eye

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 RIPK4 VGNC VGNC:76882
Bos taurus RIPK4 VGNC VGNC:33983
Rattus norvegicus RIPK4 RGD RGD:1311691
Canis familiaris RIPK4 VGNC VGNC:45596
Felis catus RIPK4 VGNC VGNC:67586
Mus musculus RIPK4 MGD MGI:1919638