InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: BRP44L

Summary

InnateDB Protein

IDBP-98942.7

Last Modified

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

Gene Symbol

BRP44L

Protein Name

brain protein 44-like

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000354223

InnateDB Gene

IDBG-98940 (BRP44L)

Protein Structure

UniProt Annotation

Function

Mediates the uptake of pyruvate into mitochondria. {ECO:0000269PubMed:22628558}.

Subcellular Localization

Mitochondrion inner membrane {ECO:0000269PubMed:22628558}; Multi-pass membrane protein {ECO:0000269PubMed:22628558}.

Disease Associations

Mitochondrial pyruvate carrier deficiency (MPYCD) [MIM:614741]: An autosomal recessive metabolic disorder characterized by severely delayed psychomotor development, mild dysmorphic features, hepatomegaly, marked metabolic acidosis, hyperlactacidemia with normal lactate/pyruvate, and encephalopathy. Some patients have epilepsy and peripheral neuropathy. {ECO:0000269PubMed:22628558}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.

Experimentally validated
Total	2 [view]
Protein-Protein	2 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003674	molecular_function
GO:0050833	pyruvate transmembrane transporter activity

Biological Process

GO:0006090	pyruvate metabolic process
GO:0006850	mitochondrial pyruvate transport
GO:0008150	biological_process
GO:0044237	cellular metabolic process
GO:0044281	small molecule metabolic process
GO:1901475	pyruvate transmembrane transport