SLC25A1 (solute carrier family 25 member 1)

2019-08-01  

Identity

HGNC
LOCATION
22q11.21
LOCUSID
ALIAS
CMS23,CTP,D2L2AD,SEA,SLC20A3

Other Information

Locus ID:

NCBI: 6576
MIM: 190315
HGNC: 10979
Ensembl: ENSG00000100075

Variants:

dbSNP: 6576
ClinVar: 6576
TCGA: ENSG00000100075
COSMIC: SLC25A1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000100075ENST00000215882P53007
ENSG00000100075ENST00000451283B4DP62

Expression (GTEx)

0
50
100
150

Pathways

PathwaySourceExternal ID
MetabolismREACTOMER-HSA-1430728
Metabolism of carbohydratesREACTOMER-HSA-71387
Glucose metabolismREACTOMER-HSA-70326
GluconeogenesisREACTOMER-HSA-70263
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Fatty acid, triacylglycerol, and ketone body metabolismREACTOMER-HSA-535734
Triglyceride BiosynthesisREACTOMER-HSA-75109
Fatty Acyl-CoA BiosynthesisREACTOMER-HSA-75105

References

Pubmed IDYearTitleCitations
376897982023The citrate transporters SLC13A5 and SLC25A1 elicit different metabolic responses and phenotypes in the mouse.3
376953152023Oncogenic KRASG12D Reprograms Lipid Metabolism by Upregulating SLC25A1 to Drive Pancreatic Tumorigenesis.2
376897982023The citrate transporters SLC13A5 and SLC25A1 elicit different metabolic responses and phenotypes in the mouse.3
376953152023Oncogenic KRASG12D Reprograms Lipid Metabolism by Upregulating SLC25A1 to Drive Pancreatic Tumorigenesis.2
345034332022Targeting Citrate Carrier (CIC) in Inflammatory Macrophages as a Novel Metabolic Approach in COVID-19 Patients: A Perspective.1
352030882022Increased expression of SLC25A1/CIC causes an autistic-like phenotype with altered neuron morphology.7
345034332022Targeting Citrate Carrier (CIC) in Inflammatory Macrophages as a Novel Metabolic Approach in COVID-19 Patients: A Perspective.1
352030882022Increased expression of SLC25A1/CIC causes an autistic-like phenotype with altered neuron morphology.7
315278572020Congenital myasthenic syndrome with mild intellectual disability caused by a recurrent SLC25A1 variant.11
318081472020Missense mutations in SLC25A1 are associated with congenital myasthenic syndrome type 23.6
324559022020Mitochondrial SLC25 Carriers: Novel Targets for Cancer Therapy.33
315278572020Congenital myasthenic syndrome with mild intellectual disability caused by a recurrent SLC25A1 variant.11
318081472020Missense mutations in SLC25A1 are associated with congenital myasthenic syndrome type 23.6
324559022020Mitochondrial SLC25 Carriers: Novel Targets for Cancer Therapy.33
290316132018Pathogenic mutations of the human mitochondrial citrate carrier SLC25A1 lead to impaired citrate export required for lipid, dolichol, ubiquinone and sterol synthesis.18

Citation

Dessen P

SLC25A1 (solute carrier family 25 member 1)

Atlas Genet Cytogenet Oncol Haematol. 2019-08-01

Online version: http://atlasgeneticsoncology.org/gene/58038/slc25a1-(solute-carrier-family-25-member-1)