MAP3K1 (mitogen-activated protein kinase kinase kinase 1)

2006-10-01 Affiliation

Identity

HGNC

MAP3K1

LOCATION

5q11.2

LOCUSID

4214

ALIAS

MAPKKK1,MEKK,MEKK

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 4214
MIM: 600982
HGNC: 6848
Ensembl: ENSG00000095015

Variants:

dbSNP: 4214
ClinVar: 4214
TCGA: ENSG00000095015
COSMIC: MAP3K1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000095015	ENST00000399503	Q13233

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
MAPK signaling pathway	KEGG	ko04010
Ubiquitin mediated proteolysis	KEGG	ko04120
Tight junction	KEGG	ko04530
GnRH signaling pathway	KEGG	ko04912
MAPK signaling pathway	KEGG	hsa04010
Ubiquitin mediated proteolysis	KEGG	hsa04120
Tight junction	KEGG	hsa04530
GnRH signaling pathway	KEGG	hsa04912
Neurotrophin signaling pathway	KEGG	ko04722
Neurotrophin signaling pathway	KEGG	hsa04722
RIG-I-like receptor signaling pathway	KEGG	ko04622
RIG-I-like receptor signaling pathway	KEGG	hsa04622
HTLV-I infection	KEGG	ko05166
HTLV-I infection	KEGG	hsa05166
Hepatitis B	KEGG	hsa05161
MAPK (JNK) signaling	KEGG	hsa_M00688
MAPK (p38) signaling	KEGG	hsa_M00689
MAPK (JNK) signaling	KEGG	M00688
MAPK (p38) signaling	KEGG	M00689
Immune System	REACTOME	R-HSA-168256
Innate Immune System	REACTOME	R-HSA-168249
Toll-Like Receptors Cascades	REACTOME	R-HSA-168898
Toll Like Receptor 10 (TLR10) Cascade	REACTOME	R-HSA-168142
MyD88 cascade initiated on plasma membrane	REACTOME	R-HSA-975871
Toll Like Receptor 5 (TLR5) Cascade	REACTOME	R-HSA-168176
Toll Like Receptor 7/8 (TLR7/8) Cascade	REACTOME	R-HSA-168181
MyD88 dependent cascade initiated on endosome	REACTOME	R-HSA-975155
TRAF6 mediated induction of NFkB and MAP kinases upon TLR7/8 or 9 activation	REACTOME	R-HSA-975138
Toll Like Receptor 9 (TLR9) Cascade	REACTOME	R-HSA-168138
Toll Like Receptor 4 (TLR4) Cascade	REACTOME	R-HSA-166016
Activated TLR4 signalling	REACTOME	R-HSA-166054
MyD88:Mal cascade initiated on plasma membrane	REACTOME	R-HSA-166058
Toll Like Receptor 2 (TLR2) Cascade	REACTOME	R-HSA-181438
Toll Like Receptor TLR1:TLR2 Cascade	REACTOME	R-HSA-168179
Toll Like Receptor TLR6:TLR2 Cascade	REACTOME	R-HSA-168188
RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways	REACTOME	R-HSA-168928
TRAF6 mediated NF-kB activation	REACTOME	R-HSA-933542
Fc epsilon receptor (FCERI) signaling	REACTOME	R-HSA-2454202
FCERI mediated MAPK activation	REACTOME	R-HSA-2871796

Protein levels (Protein atlas)

Not detected

Low

Medium

High

PharmGKB

Entity ID	Name	Type	Evidence	Association	PD	PMIDs
PA131301952	gefitinib	Chemical	ClinicalAnnotation	associated	PD	21636554
PA134687924	erlotinib	Chemical	ClinicalAnnotation	associated	PD	21636554
PA134913435	SHC3	Gene	Pathway	associated
PA134971076	SHC2	Gene	Pathway	associated
PA164713366	Tumor necrosis factor alpha (TNF-alpha) inhibitors	Chemical	ClinicalAnnotation	associated	PD	27670765
PA284	MAP2K7	Gene	Pathway	associated		23922006
PA28962	GRB2	Gene	Pathway	associated
PA29444	HRAS	Gene	Pathway	associated
PA30196	KRAS	Gene	Pathway	associated
PA30589	MAP2K4	Gene	Pathway	associated		23922006
PA30932	MRAS	Gene	Pathway	associated
PA31768	NRAS	Gene	Pathway	associated
PA34861	RRAS	Gene	Pathway	associated
PA35746	SHC1	Gene	Pathway	associated
PA36024	SOS1	Gene	Pathway	associated
PA443622	Carcinoma, Non-Small-Cell Lung	Disease	ClinicalAnnotation	associated	PD	21636554
PA445451	Psoriasis	Disease	ClinicalAnnotation	associated	PD	27670765
PA448803	carboplatin	Chemical	ClinicalAnnotation	associated	PD	21636554
PA449014	cisplatin	Chemical	ClinicalAnnotation	associated	PD	21636554
PA449383	docetaxel	Chemical	ClinicalAnnotation	associated	PD	21636554
PA450761	paclitaxel	Chemical	ClinicalAnnotation	associated	PD	21636554

References

Pubmed ID	Year	Title	Citations
36560873	2023	MAP3K1 rs889312 polymorphism and cancer prognosis: A systematic review and meta-analysis.	1
37166744	2023	MAP3K1 expression is associated with progression and poor prognosis of hormone receptor-positive, HER2-negative early-stage breast cancer.	3
37314251	2023	Whole exome sequencing identifies MAP3K1, MSH2, and MLH1 as potential cancer-predisposing genes in familial early-onset colorectal cancer.	1
37592023	2023	Exome sequencing identifies breast cancer susceptibility genes and defines the contribution of coding variants to breast cancer risk.	7
36560873	2023	MAP3K1 rs889312 polymorphism and cancer prognosis: A systematic review and meta-analysis.	1
37166744	2023	MAP3K1 expression is associated with progression and poor prognosis of hormone receptor-positive, HER2-negative early-stage breast cancer.	3
37314251	2023	Whole exome sequencing identifies MAP3K1, MSH2, and MLH1 as potential cancer-predisposing genes in familial early-onset colorectal cancer.	1
37592023	2023	Exome sequencing identifies breast cancer susceptibility genes and defines the contribution of coding variants to breast cancer risk.	7
35290982	2022	Pathogenic Variants in MAP3K1 Cause 46,XY Gonadal Dysgenesis: A Review.	3
35524422	2022	MicroRNA-203a-3p may prevent the development of thyroid papillary carcinoma via repressing MAP3K1 and activating autophagy.	2
36102299	2022	Identification of a novel MAP3K1 variant in a family with 46, XY DSD and partial growth hormone deficiency.	0
36510163	2022	Sex-dependent associations between MAP3K1 gene polymorphisms and soy products with the gastric cancer risk in Korea: a case-control study.	0
35290982	2022	Pathogenic Variants in MAP3K1 Cause 46,XY Gonadal Dysgenesis: A Review.	3
35524422	2022	MicroRNA-203a-3p may prevent the development of thyroid papillary carcinoma via repressing MAP3K1 and activating autophagy.	2
36102299	2022	Identification of a novel MAP3K1 variant in a family with 46, XY DSD and partial growth hormone deficiency.	0

Citation

Dessen P

MAP3K1 (mitogen-activated protein kinase kinase kinase 1)

Atlas Genet Cytogenet Oncol Haematol. 2006-10-01

Online version: http://atlasgeneticsoncology.org/gene/43341

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