SLC25A15 (solute carrier family 25 member 15)

2019-04-01  

Identity

HGNC
SLC25A15
LOCATION
13q14.11
LOCUSID
10166
ALIAS
D13S327,HHH,LNC-HC,ORC1,ORNT1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 10166
MIM: 603861
HGNC: 10985
Ensembl: ENSG00000102743

Variants:

dbSNP: 10166
ClinVar: 10166
TCGA: ENSG00000102743
COSMIC: SLC25A15

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000102743ENST00000338625Q9Y619
ENSG00000102743ENST00000417731Q5VZD9
ENSG00000102743ENST00000470509F2Z354

Expression (GTEx)

0
5
10
15
20
25
30
35
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

PathwaySourceExternal ID
MetabolismREACTOMER-HSA-1430728
Metabolism of amino acids and derivativesREACTOMER-HSA-71291
Urea cycleREACTOMER-HSA-70635
Metabolism of polyaminesREACTOMER-HSA-351202

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
232661872013The mitochondrial transporter family SLC25: identification, properties and physiopathology.159
128078902003The mitochondrial ornithine transporter. Bacterial expression, reconstitution, functional characterization, and tissue distribution of two human isoforms.27
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
192429302009Identification of novel mutations in the SLC25A15 gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: a clinical, molecular, and functional study.15
222628512012Substrate specificity of the two mitochondrial ornithine carriers can be swapped by single mutation in substrate binding site.11
222920902012Insights into the mutation-induced HHH syndrome from modeling human mitochondrial ornithine transporter-1.10
189783332008Phenotypic variability among patients with hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome homozygous for the delF188 mutation in SLC25A15.9
178253242008Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome with stroke-like imaging presentation: clinical, biochemical and molecular analysis.6
147596332004Hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome with evidence of mitochondrial dysfunction due to a novel SLC25A15 (ORNT1) gene mutation in a Palestinian family.5
224650822012Long-term follow-up of four patients affected by HHH syndrome.5

Citation

Dessen P

SLC25A15 (solute carrier family 25 member 15)

Atlas Genet Cytogenet Oncol Haematol. 2019-04-01

Online version: http://atlasgeneticsoncology.org/gene/57802/slc25a15