SLC48A1 (solute carrier family 48 member 1)

2015-02-01  

Identity

HGNC
SLC48A1
LOCATION
12q13.11
LOCUSID
55652
ALIAS
HRG-1,HRG1,hHRG-1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 55652
MIM: 612187
HGNC: 26035
Ensembl: ENSG00000211584

Variants:

dbSNP: 55652
ClinVar: 55652
TCGA: ENSG00000211584
COSMIC: SLC48A1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000211584ENST00000442218Q6P1K1
ENSG00000211584ENST00000442892Q6P1K1
ENSG00000211584ENST00000547002Q6P1K1
ENSG00000211584ENST00000548498F8VQX9
ENSG00000211584ENST00000549243F8W1R8
ENSG00000211584ENST00000551301F8VXV4

Expression (GTEx)

0
50
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

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
184183762008Haem homeostasis is regulated by the conserved and concerted functions of HRG-1 proteins.121
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
233951722013HRG1 is essential for heme transport from the phagolysosome of macrophages during erythrophagocytosis.68
215555182011The BTB and CNC homology 1 (BACH1) target genes are involved in the oxidative stress response and in control of the cell cycle.60
198754482010Heme-binding protein HRG-1 is induced by insulin-like growth factor I and associates with the vacuolar H+-ATPase to control endosomal pH and receptor trafficking.29
221744082012Topologically conserved residues direct heme transport in HRG-1-related proteins.25
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11
241417722014HRG-1 enhances cancer cell invasive potential and couples glucose metabolism to cytosolic/extracellular pH gradient regulation by the vacuolar-H(+) ATPase.9

Citation

Dessen P

SLC48A1 (solute carrier family 48 member 1)

Atlas Genet Cytogenet Oncol Haematol. 2015-02-01

Online version: http://atlasgeneticsoncology.org/gene/54966/slc48a1