InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: MED13L

Summary

InnateDB Protein

IDBP-59151.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

MED13L

Protein Name

mediator complex subunit 13-like

Synonyms

PROSIT240; THRAP2; TRAP240L;

Species

Homo sapiens

Ensembl Protein

ENSP00000281928

InnateDB Gene

IDBG-59149 (MED13L)

Protein Structure

UniProt Annotation

Function

Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors. This subunit may specifically regulate transcription of targets of the Wnt signaling pathway and SHH signaling pathway.

Subcellular Localization

Nucleus {ECO:0000305}.

Disease Associations

Transposition of the great arteries dextro-looped 1 (DTGA1) [MIM:608808]: A congenital heart defect consisting of complete inversion of the great vessels, so that the aorta incorrectly arises from the right ventricle and the pulmonary artery incorrectly arises from the left ventricle. This creates completely separate pulmonary and systemic circulatory systems, an arrangement that is incompatible with life. The presence or absence of associated cardiac anomalies defines the clinical presentation and surgical management of patients with transposition of the great arteries. {ECO:0000269PubMed:14638541}. Note=The disease is caused by mutations affecting the gene represented in this entry.Note=A chromosomal aberration involving MED13L is found in a patient with transposition of the great arteries, dextro- looped and mental retardation. Translocation t(12;17)(q24.1;q21).

Tissue Specificity

Highly expressed in brain (cerebellum), heart (aorta), skeletal muscle, kidney, placenta and peripheral blood leukocytes. Highly expressed in fetal brain. {ECO:0000269PubMed:14638541, ECO:0000269PubMed:15145061}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 20 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.