MAP3K20 - mitogen-activated protein kinase kinase kinase 20 Gene

Also Known as pk; AZK; MLT; MRK; ZAK; CNM6; MLK7; MLTK; SFMMP; mlklak; MLTKbeta; MLTKalpha

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 51776

About MAP3K20

Cytogenetic location: 2q31.1 Genomic coordinates (GRCh38): 2:173,075,517-173,268,015 (from NCBI)

This gene has 8 transcripts (splice variants), 147 orthologues, 23 paralogues and is associated with 4 phenotypes. Broad expression in heart (RPKM 51.0), fat (RPKM 33.9) and 21 other tissues.

Summary

This gene is a member of the MAPKKK family of signal transduction molecules and encodes a protein with an N-terminal kinase catalytic domain, followed by a leucine zipper motif and a sterile-alpha motif (SAM). This magnesium-binding protein forms homodimers and is located in the cytoplasm. The protein mediates gamma radiation signaling leading to cell cycle arrest and activity of this protein plays a role in cell cycle checkpoint regulation in cells. The protein also has pro-apoptotic activity. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

MAP3K20 Products (2)

mRNA Protein Name
NM_016653.3 NP_057737.2 mitogen-activated protein kinase kinase kinase 20 isoform 1
NM_133646.3 NP_598407.1 mitogen-activated protein kinase kinase kinase 20 isoform 2
Molecular Function GO Annotation Evidence References Source
enables ATP binding IDA
IDA: Inferred from direct assay
11836244 GOA
enables JUN kinase kinase kinase activity IDA
IDA: Inferred from direct assay
11836244 GOA
enables MAP kinase kinase kinase activity IDA
IDA: Inferred from direct assay
11836244 GOA
enables magnesium ion binding IDA
IDA: Inferred from direct assay
11836244 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
12761180 GOA
enables protein kinase activator activity IDA
IDA: Inferred from direct assay
32610081 GOA
enables protein serine/threonine kinase activity IDA
IDA: Inferred from direct assay
32289254 GOA
enables ribosome binding IDA
IDA: Inferred from direct assay
32289254 GOA
enables small ribosomal subunit rRNA binding IDA
IDA: Inferred from direct assay
32289254 GOA
enables stalled ribosome sensor activity IDA
IDA: Inferred from direct assay
32289254 GOA
Biological Process GO Annotation Evidence References Source
involved in DNA damage checkpoint signaling IMP
IMP: Inferred from mutant phenotype
11836244 GOA
acts upstream of GCN2-mediated signaling IDA
IDA: Inferred from direct assay
32610081 GOA
involved in JNK cascade IDA
IDA: Inferred from direct assay
11836244 GOA
involved in MAPK cascade IDA
IDA: Inferred from direct assay
18331592 GOA
involved in cellular response to UV-B IDA
IDA: Inferred from direct assay
32289254 GOA
involved in cellular response to gamma radiation IDA
IDA: Inferred from direct assay
11836244 GOA
involved in embryonic digit morphogenesis IMP
IMP: Inferred from mutant phenotype
26755636 GOA
involved in inflammatory response IMP
IMP: Inferred from mutant phenotype
18331592 GOA
involved in limb development IMP
IMP: Inferred from mutant phenotype
26755636 GOA
involved in negative regulation of stress-activated protein kinase signaling cascade IDA
IDA: Inferred from direct assay
35857590 GOA
involved in negative regulation of translation in response to endoplasmic reticulum stress IDA
IDA: Inferred from direct assay
32610081 GOA
involved in p38MAPK cascade IDA
IDA: Inferred from direct assay
11836244 GOA
involved in positive regulation of apoptotic process IDA
IDA: Inferred from direct assay
10924358 GOA
involved in positive regulation of mitotic DNA damage checkpoint IDA
IDA: Inferred from direct assay
15342622 GOA
acts upstream of positive regulation of programmed cell death IDA
IDA: Inferred from direct assay
32289254 GOA
involved in protein autophosphorylation IDA
IDA: Inferred from direct assay
12220515 GOA
involved in protein phosphorylation IDA
IDA: Inferred from direct assay
11836244 GOA
acts upstream of positive effect pyroptotic inflammatory response IDA
IDA: Inferred from direct assay
35857590 GOA
involved in stress-activated MAPK cascade IDA
IDA: Inferred from direct assay
11836244 GOA
involved in stress-activated protein kinase signaling cascade IDA
IDA: Inferred from direct assay
35857590 GOA
Cellular Component GO Annotation Evidence References Source
is active in cytoplasm IDA
IDA: Inferred from direct assay
15684425 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MAP3K20 Protein Structure

Pkinase_Tyr

Pkinase_Tyr: Protein tyrosine kinase (17 - 260)

SAM_1

SAM_1: SAM domain (Sterile alpha motif) (339 - 407)

  • 0
  • 200
  • 400
  • 600
  • 800 a.a.
Protein Preferred Names Protein Names

mitogen-activated protein kinase kinase kinase 20

  • HCCS-4

MAP3K20 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
MAP3K20 Q9NYL2 RPS6KA5 Homo sapiens O75582
Y2H
21988832
Intra
MAP3K20 Q9NYL2 RPS6KA5 Homo sapiens O75582 21988832
Intra
MAP3K20 Q9NYL2 ZNF567 Homo sapiens Q8N184
Y2H
21516116
Intra
MAP3K20 Q9NYL2 ZNF567 Homo sapiens Q8N184 16189514
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Split-Foot Malformation With Mesoaxial Polydactyly
  • SFMMP

  • Split-Foot Malformation-Mesoaxial Polydactyly Syndrome

  • Split-Foot Malformation-Mesoaxial Polydactyly-Nail Abnormalities-Sensorineural Hearing Loss Syndrome

Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
  • CNM6

  • Centronuclear Myopathy 6 With Fiber-Type Disproportion

  • Myopathy, Centronuclear, Type 6, With Fiber-Type Disproportion

Split-Hand/Foot Malformation 1
  • Ectrodactyly

  • Split Hand-Foot Malformation 1

  • SHFM1

  • Shfd1

  • Split-Hand Deformity

  • Split-Hand/Foot Malformation 1 With Or Without Deafness

  • Split-Hand/Foot Deformity 1

  • Ecd

  • Split Hand/Foot Malformation Type 1

  • Split Hand Foot Deformity 1

  • Split-Hand/Foot Malformation

Congenital Fiber-Type Disproportion
  • Congenital Fiber Type Disproportion

  • Cftdm

  • Congenital Myopathy With Fiber Type Disproportion

  • Cftd

  • Congenital Fiber-Type Disproportion Myopathy

  • Fiber-Type Disproportion Myopathy, Congenital

  • Myopathy, Congenital With Fiber-Type Disproportion

Hepatocellular Carcinoma
  • Liver Cancer

  • Primary Liver Cancer

  • HCC

  • Hepatoma

  • Malignant Neoplasm Of Liver

  • Liver Neoplasms

  • Cancer, Hepatocellular

  • Liver Cell Carcinoma

  • Lcc

  • Hepatoblastoma, Somatic

  • Hepatic Cancer

  • Primary Malignant Neoplasm Of Liver

  • Rare Tumor Of Liver And Intrahepatic Biliary Tract

  • Hepatocellular Carcinoma, Somatic

  • Hepatocellular Carcinoma, Childhood Type, Somatic

  • Hepatocellular Cancer, Somatic

  • Ca Liver - Primary

  • Hepatic Neoplasm

  • Malignant Hepato-Biliary Neoplasm

  • Malignant Neoplasm Of Liver, Not Specified As Primary Or Secondary

  • Malignant Neoplasm Of Liver, Primary

  • Malignant Tumor Of Liver

  • Neoplasm Of Liver

  • Non-Resectable Primary Hepatic Malignant Neoplasm

  • Resectable Malignant Neoplasm Of Liver

  • Resectable Malignant Neoplasm Of The Liver

  • Primary Liver Carcinoma

  • Primary Malignant Liver Neoplasm

  • Primary Cancer Of Liver

  • Primary Tumor Of The Liver

  • Rare Tumor Of Liver And Ibt

  • Hepatocellular Cancer

  • Neoplasm Of The Liver

  • Carcinoma, Hepatocellular

  • Hepatomas

  • Liver Neoplasm

  • Liver Carcinoma

  • Liver And Intrahepatic Biliary Tract Carcinoma

  • Malignant Hepatobiliary Neoplasm

  • Adult Primary Hepatocellular Carcinoma

  • Hepatoblastoma

  • Carcinoma Of Liver

  • Malignant Liver Tumour

  • Malignant Hepatic Tumour

Split-Hand/Foot Malformation 1 With Sensorineural Hearing Loss, Autosomal Recessive
  • Split Hand-Foot Malformation 1 With Sensorineural Hearing Loss

  • SHFM1D

  • Deafness, Congenital, With Split Hands And Feet

  • Split-Hand/Foot Malformation 1 With Sensorineural Hearing Loss

  • Congenital Deafness With Split Hands And Feet

  • Split Hand-Split Foot-Deafness Syndrome

  • Split Hand-Split Foot-Hearing Loss Syndrome

  • Congenital Deafness And Split Hands And Feet

  • Split-Hand/Foot Malformation, Type 1 With Sensorineural Hearing Loss

  • Split-Hand-Foot Malformation With Sensorineural Hearing Loss

Centronuclear Myopathy
  • Myopathy, Centronuclear

  • Myotubular Myopathy

  • Cnm

  • Myopathy, Myotubular

  • Congenital Structural Myopathy

Myopathy
  • Muscular Diseases

  • Myopathies

Sensorineural Hearing Loss
  • Sensory Hearing Loss

  • Sensorineural Deafness

  • Sensorineural Hearing Loss Disorder

  • Hearing Loss, Sensorineural

  • Central Hearing Loss

  • High Frequency Deafness

  • High Frequency Hearing Loss

  • High-Frequency Hearing Loss

  • Perceptive Deafness

  • Perceptive Hearing Loss

  • Perceptive Hearing Loss Or Deafness

  • Hearing Loss Sensorineural

  • Deafness Sensorineural

  • Hearing Loss High-Frequency

  • Hearing Loss, Central

  • Hearing Loss, High-Frequency

Ptosis
  • Blepharoptosis

  • Drooping Eyelid

  • Droopy Eyelid

  • Ptosis Of Eyelid

  • Paralysis Of Levator Palpebrae Superioris

Diseases Alias
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

Orthologs Information

Species Symbol Source ID
Mus musculus MAP3K20 MGD MGI:2443258
Rattus norvegicus MAP3K20 RGD RGD:1561394
Macaca mulatta MAP3K20 VGNC VGNC:99379
Canis familiaris MAP3K20 VGNC VGNC:53099
Others MAP3K20 NCBI