SLC25A3 (solute carrier family 25 member 3)

2014-11-01  

Identity

HGNC
LOCATION
12q23.1
LOCUSID
ALIAS
OK/SW-cl.48,PHC,PTP
FUSION GENES

Other Information

Locus ID:

NCBI: 5250
MIM: 600370
HGNC: 10989
Ensembl: ENSG00000075415

Variants:

dbSNP: 5250
ClinVar: 5250
TCGA: ENSG00000075415
COSMIC: SLC25A3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000075415ENST00000188376Q00325
ENSG00000075415ENST00000188376A0A024RBE8
ENSG00000075415ENST00000228318Q00325
ENSG00000075415ENST00000228318A0A024RBH9
ENSG00000075415ENST00000401722Q00325
ENSG00000075415ENST00000401722A0A024RBE8
ENSG00000075415ENST00000547534F8VWQ0
ENSG00000075415ENST00000548046F8VZL5
ENSG00000075415ENST00000548847F8VVM2
ENSG00000075415ENST00000549338Q00325
ENSG00000075415ENST00000549338A0A024RBE8
ENSG00000075415ENST00000550695F8VWR4
ENSG00000075415ENST00000551123F8VY00
ENSG00000075415ENST00000551265F8VYH5
ENSG00000075415ENST00000551917Q00325
ENSG00000075415ENST00000551917A0A024RBH9
ENSG00000075415ENST00000552981Q00325
ENSG00000075415ENST00000552981A0A024RBE8

Expression (GTEx)

0
50
100
150
200
250

References

Pubmed IDYearTitleCitations
232661872013The mitochondrial transporter family SLC25: identification, properties and physiopathology.159
172739682007Mitochondrial phosphate-carrier deficiency: a novel disorder of oxidative phosphorylation.39
194059532009Proteome analysis of schizophrenia patients Wernicke's area reveals an energy metabolism dysregulation.38
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
292377292018The mammalian phosphate carrier SLC25A3 is a mitochondrial copper transporter required for cytochrome <i>c</i> oxidase biogenesis.17
159849302005Functional analysis of the promoter of the mitochondrial phosphate carrier human gene: identification of activator and repressor elements and their transcription factors.11
277808652016Natural and Induced Mitochondrial Phosphate Carrier Loss: DIFFERENTIAL DEPENDENCE OF MITOCHONDRIAL METABOLISM AND DYNAMICS AND CELL SURVIVAL ON THE EXTENT OF DEPLETION.3

Citation

Dessen P

SLC25A3 (solute carrier family 25 member 3)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/73351/slc25a3