Overview

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

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 3.05% of all cancers with breast invasive ductal carcinoma, lung adenocarcinoma, colon adenocarcinoma, invasive breast carcinoma, and endometrial endometrioid adenocarcinoma having the greatest prevalence of alterations [3].

MAP3K1 GENIE Cases - Top Diseases

The most common alterations in MAP3K1 are MAP3K1 Mutation (3.49%), MAP3K1 Loss (0.23%), MAP3K1 Amplification (0.06%), MAP3K1 R273Sfs*27 (0.06%), and MAP3K1 A5dup (0.05%) [3].

MAP3K1 GENIE Cases - Top Alterations

Significance of MAP3K1 in Diseases

Malignant Solid Tumor +

Non-Small Cell Lung Carcinoma +

Melanoma +

Non-Hodgkin Lymphoma +

Ovarian Carcinoma +

Breast Carcinoma +

Colorectal Carcinoma +

Glioma +

Pancreatic Carcinoma +

Histiocytic And Dendritic Cell Neoplasm +

Neuroblastoma +

Endometrial Carcinoma +

Cutaneous Melanoma +

Bladder Carcinoma +

Squamous Cell Lung Carcinoma +

Glioblastoma +

Low Grade Glioma +

Lymphoma +

Thyroid Gland Carcinoma +

Soft Tissue Sarcoma +

Sarcoma +

Renal Cell Carcinoma +

Anaplastic Astrocytoma +

Embryonal Rhabdomyosarcoma +

Head And Neck Carcinoma +

Hepatocellular Carcinoma +

Malignant Peripheral Nerve Sheath Tumor +

Multiple Myeloma +

Neurofibromatosis Type 1 +

Poorly Differentiated Thyroid Gland Carcinoma +

Rhabdoid Tumor +

Schwannoma +

Thyroid Gland Undifferentiated (Anaplastic) Carcinoma +

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 6. 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.