SLC25A4 (solute carrier family 25 member 4)

2003-05-01  

Identity

HGNC
LOCATION
4q35.1
LOCUSID
ALIAS
AAC1,ANT,ANT
FUSION GENES

Other Information

Locus ID:

NCBI: 291
MIM: 103220
HGNC: 10990
Ensembl: ENSG00000151729

Variants:

dbSNP: 291
ClinVar: 291
TCGA: ENSG00000151729
COSMIC: SLC25A4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000151729ENST00000281456P12235
ENSG00000151729ENST00000281456A0A0S2Z3H3
ENSG00000151729ENST00000491736V9GYG0

Expression (GTEx)

0
100
200
300
400
500
600

Pathways

PathwaySourceExternal ID
Calcium signaling pathwayKEGGko04020
Huntington's diseaseKEGGko05016
Calcium signaling pathwayKEGGhsa04020
Parkinson's diseaseKEGGhsa05012
Huntington's diseaseKEGGhsa05016
HTLV-I infectionKEGGko05166
HTLV-I infectionKEGGhsa05166
cGMP-PKG signaling pathwayKEGGhsa04022
cGMP-PKG signaling pathwayKEGGko04022
Metabolism of proteinsREACTOMER-HSA-392499
Mitochondrial protein importREACTOMER-HSA-1268020
DiseaseREACTOMER-HSA-1643685
Infectious diseaseREACTOMER-HSA-5663205
HIV InfectionREACTOMER-HSA-162906
Host Interactions of HIV factorsREACTOMER-HSA-162909
Interactions of Vpr with host cellular proteinsREACTOMER-HSA-176033
Vpr-mediated induction of apoptosis by mitochondrial outer membrane permeabilizationREACTOMER-HSA-180897
MetabolismREACTOMER-HSA-1430728
Integration of energy metabolismREACTOMER-HSA-163685
Regulation of insulin secretionREACTOMER-HSA-422356

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
232661872013The mitochondrial transporter family SLC25: identification, properties and physiopathology.159
161551102005Complete loss-of-function of the heart/muscle-specific adenine nucleotide translocator is associated with mitochondrial myopathy and cardiomyopathy.60
234015032013Severity of cardiomyopathy associated with adenine nucleotide translocator-1 deficiency correlates with mtDNA haplogroup.41
155510242005Increased levels of adenine nucleotide translocator 1 protein and response to oxidative stress are early events in facioscapulohumeral muscular dystrophy muscle.39
276932332016Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number.33
147296112004Cyclophilin D, a component of the permeability transition-pore, is an apoptosis repressor.29
152318332004Recruitment of NF-kappaB into mitochondria is involved in adenine nucleotide translocase 1 (ANT1)-induced apoptosis.28
174203182007Mutation of the linker region of the polymerase gamma-1 (POLG1) gene associated with progressive external ophthalmoplegia and Parkinsonism.28
199657802010Peroxisome proliferator-activated receptor-gamma coactivator 1-alpha overexpression prevents endothelial apoptosis by increasing ATP/ADP translocase activity.25
221874962012Complete loss of expression of the ANT1 gene causing cardiomyopathy and myopathy.24

Citation

Dessen P

SLC25A4 (solute carrier family 25 member 4)

Atlas Genet Cytogenet Oncol Haematol. 2003-05-01

Online version: http://atlasgeneticsoncology.org/gene/42317/slc25a4