SLC40A1 (solute carrier family 40 member 1)

2010-10-01  

Identity

HGNC
SLC40A1
LOCATION
2q32.2
LOCUSID
30061
ALIAS
FPN1,HFE4,IREG1,MST079,MSTP079,MTP1,SLC11A3
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 30061
MIM: 604653
HGNC: 10909
Ensembl: ENSG00000138449

Variants:

dbSNP: 30061
ClinVar: 30061
TCGA: ENSG00000138449
COSMIC: SLC40A1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000138449ENST00000261024Q9NP59
ENSG00000138449ENST00000427241E7ES28
ENSG00000138449ENST00000427419Q4PNE6
ENSG00000138449ENST00000440626Q4PNE6
ENSG00000138449ENST00000455320E7EQF8

Expression (GTEx)

0
50
100
150
200
250
300
350
400
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
Mineral absorptionKEGGko04978
Mineral absorptionKEGGhsa04978
Transmembrane transport of small moleculesREACTOMER-HSA-382551
SLC-mediated transmembrane transportREACTOMER-HSA-425407
Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compoundsREACTOMER-HSA-425366
Metal ion SLC transportersREACTOMER-HSA-425410
Iron uptake and transportREACTOMER-HSA-917937
FerroptosisKEGGko04216
FerroptosisKEGGhsa04216

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
206861792010Ferroportin and iron regulation in breast cancer progression and prognosis.130
174757792007The molecular mechanism of hepcidin-mediated ferroportin down-regulation.127
115187362001Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene.97
264376042015Ironing out Ferroportin.88
147574272004The ferroportin disease.83
226822272012Hepcidin-induced endocytosis of ferroportin is dependent on ferroportin ubiquitination.80
158317002005Resistance to hepcidin is conferred by hemochromatosis-associated mutations of ferroportin.66
159562092005The molecular basis of ferroportin-linked hemochromatosis.65
236302272013Nitric oxide-mediated regulation of ferroportin-1 controls macrophage iron homeostasis and immune function in Salmonella infection.60
156920712005In vitro functional analysis of human ferroportin (FPN) and hemochromatosis-associated FPN mutations.57

Citation

Dessen P

SLC40A1 (solute carrier family 40 member 1)

Atlas Genet Cytogenet Oncol Haematol. 2010-10-01

Online version: http://atlasgeneticsoncology.org/gene/51710/slc40a1