Overview

Location [1]
5q11.2
Pathway
MAP kinase signaling
Protein [2]
Mitogen-activated protein kinase kinase kinase 1
Synonyms [1]
MEKK1, "MEKK 1", MEKK, MAPKKK1, SRXY6

Mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase (MAP3K1) is a gene that encodes a protein that functions as a serine/threonine kinase in multiple cell signaling cascades. Missense mutations, nonsense mutations, silent mutations, frameshift deletions and insertions, and in-frame deletions are observed in cancers such as breast cancer, endometrial cancer, and intestinal cancer.

MAP3K1 is altered in 3.24% of all cancers with breast invasive ductal carcinoma, lung adenocarcinoma, colon adenocarcinoma, endometrial endometrioid adenocarcinoma, and invasive breast carcinoma having the greatest prevalence of alterations [3].

MAP3K1 GENIE Cases - Top Diseases

The most common alterations in MAP3K1 are MAP3K1 Mutation (2.32%), MAP3K1 Loss (0.21%), MAP3K1 Amplification (0.07%), MAP3K1 L78P (0.15%), and MAP3K1 A5dup (0.04%) [3].

MAP3K1 GENIE Cases - Top Alterations

Significance of MAP3K1 in Diseases

Malignant Solid Tumor +

Non-Small Cell Lung Carcinoma +

Melanoma +

Ovarian Carcinoma +

Non-Hodgkin Lymphoma +

Breast Carcinoma +

Colorectal Carcinoma +

Low Grade Glioma +

Glioma +

Thyroid Gland Carcinoma +

Histiocytic And Dendritic Cell Neoplasm +

Pancreatic Carcinoma +

Endometrial Carcinoma +

Embryonal Rhabdomyosarcoma +

Cutaneous Melanoma +

Bladder Carcinoma +

Glioblastoma +

Diffuse Glioma +

Pilocytic Astrocytoma +

Astrocytic Tumor +

Squamous Cell Lung Carcinoma +

Neuronal And Mixed Neuronal-Glial Tumors +

Thyroid Gland Undifferentiated (Anaplastic) Carcinoma +

Anaplastic Astrocytoma +

Multiple Myeloma +

Head And Neck Carcinoma +

Ganglioglioma +

Sarcoma +

Hepatocellular Carcinoma +

Renal Cell Carcinoma +

Soft Tissue Sarcoma +

Lymphoma +

Poorly Differentiated Thyroid Gland Carcinoma +

Acute Myeloid Leukemia +

Neuroblastoma +

Myelodysplastic Syndromes +

Chronic Myelomonocytic Leukemia +

Dysembryoplastic Neuroepithelial Tumor +

Gangliocytoma +

Low-Grade Neuroepithelial Tumor, NOS +

Malignant Peripheral Nerve Sheath Tumor +

Neurofibromatosis Type 1 +

Pilomyxoid Astrocytoma +

Rhabdoid Tumor +

Schwannoma +

References

1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20180821. San Francisco CA: Github;2015. https://github.com/biocommons/uta

2. The UniProt Consortium. UniProt: a worldwide hub of protein knowledge. Nucleic Acids Research. 2019;47:D506-D515.

3. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 8. This dataset does not represent the totality of the genetic landscape; see paper for more information.

4. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.