SLC25A1 (solute carrier family 25 member 1)

2019-08-01 Affiliation

Identity

HGNC

SLC25A1

LOCATION

22q11.21

LOCUSID

6576

ALIAS

CMS23,CTP,D2L2AD,SEA,SLC20A3

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000100075	ENST00000215882	P53007
ENSG00000100075	ENST00000451283	B4DP62

Expression (GTEx)

100

150

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Metabolism	REACTOME	R-HSA-1430728
Metabolism of carbohydrates	REACTOME	R-HSA-71387
Glucose metabolism	REACTOME	R-HSA-70326
Gluconeogenesis	REACTOME	R-HSA-70263
Metabolism of lipids and lipoproteins	REACTOME	R-HSA-556833
Fatty acid, triacylglycerol, and ketone body metabolism	REACTOME	R-HSA-535734
Triglyceride Biosynthesis	REACTOME	R-HSA-75109
Fatty Acyl-CoA Biosynthesis	REACTOME	R-HSA-75105

References

Pubmed ID	Year	Title	Citations
23266187	2013	The mitochondrial transporter family SLC25: identification, properties and physiopathology.	159
21787310	2011	The mitochondrial citrate carrier: a new player in inflammation.	84
19240061	2009	Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.	75
23561848	2013	Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria.	40
25072865	2014	A key role of the mitochondrial citrate carrier (SLC25A1) in TNFα- and IFNγ-triggered inflammation.	32
23393310	2013	Agenesis of corpus callosum and optic nerve hypoplasia due to mutations in SLC25A1 encoding the mitochondrial citrate transporter.	20
19654186	2009	A conserved role for the mitochondrial citrate transporter Sea/SLC25A1 in the maintenance of chromosome integrity.	17
20877624	2010	Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.	17
26221035	2015	Mitochondrial Citrate Transporter-dependent Metabolic Signature in the 22q11.2 Deletion Syndrome.	17
29651165	2018	The mitochondrial citrate carrier, SLC25A1, drives stemness and therapy resistance in non-small cell lung cancer.	15

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