InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SLC25A4

Summary

InnateDB Protein

IDBP-46666.5

Last Modified

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

Gene Symbol

SLC25A4

Protein Name

solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4

Synonyms

1; AAC1; ANT; ANT 1; ANT1; MTDPS12; PEO2; PEO3; T1;

Species

Homo sapiens

Ensembl Protein

ENSP00000281456

InnateDB Gene

IDBG-46664 (SLC25A4)

Protein Structure

UniProt Annotation

Function

Catalyzes the exchange of cytoplasmic ADP with mitochondrial ATP across the mitochondrial inner membrane.

Subcellular Localization

Mitochondrion inner membrane; Multi-pass membrane protein.

Disease Associations

Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 2 (PEOA2) [MIM:609283]: A disorder characterized by progressive weakness of ocular muscles and levator muscle of the upper eyelid. In a minority of cases, it is associated with skeletal myopathy, which predominantly involves axial or proximal muscles and which causes abnormal fatigability and even permanent muscle weakness. Ragged-red fibers and atrophy are found on muscle biopsy. A large proportion of chronic ophthalmoplegias are associated with other symptoms, leading to a multisystemic pattern of this disease. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism. {ECO:0000269PubMed:10926541, ECO:0000269PubMed:11756613, ECO:0000269PubMed:12112115, ECO:0000269PubMed:15792871, ECO:0000269PubMed:18575922}. Note=The disease is caused by mutations affecting the gene represented in this entry.Mitochondrial DNA depletion syndrome 12, cardiomyopathic type (MTDPS12) [MIM:615418]: An autosomal recessive mitochondrial disorder characterized by childhood onset of slowly progressive hypertrophic cardiomyopathy and generalized skeletal myopathy resulting in exercise intolerance and, in some patients, muscle weakness and atrophy. Skeletal muscle biopsy shows ragged red fibers, mtDNA depletion, and accumulation of abnormal mitochondria. {ECO:0000269PubMed:22187496}. 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 33 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	33 [view]
Protein-Protein	33 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding
GO:0015207	adenine transmembrane transporter activity

Biological Process

GO:0000002	mitochondrial genome maintenance
GO:0006091	generation of precursor metabolites and energy
GO:0006112	energy reserve metabolic process
GO:0006810	transport
GO:0008637	apoptotic mitochondrial changes
GO:0015853	adenine transport
GO:0016032	viral process
GO:0044281	small molecule metabolic process
GO:0050796	regulation of insulin secretion
GO:0055085	transmembrane transport
GO:0060546	negative regulation of necroptotic process

Cellular Component

GO:0005634	nucleus
GO:0005739	mitochondrion
GO:0005743	mitochondrial inner membrane
GO:0005887	integral component of plasma membrane

Protein Structure and Domains

PDB ID

InterPro

IPR002030 Mitochondrial brown fat uncoupling protein
IPR002067 Mitochondrial carrier protein
IPR002113 Adenine nucleotide translocator 1
IPR018108 Mitochondrial substrate/solute carrier
IPR023395 Mitochondrial carrier domain

PFAM

PF00153

PRINTS

PR00784
PR00926
PR00927

PIRSF

SMART

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

P12235