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FLASH GENE

Symbol

SLC40A1

contributors: mct - updated : 20-06-2017

HGNC name	solute carrier family 40 (iron-regulated transporter), member 1
HGNC id	10909

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	HFE4 hemochromatosis, type 4
Location	2q32.2      Physical location : 190.425.317 - 190.445.537
Synonym name	metal transporting protein 1
	ferroportin 1
	iron regulated transporter 1
	solute carrier family 11 (proton-coupled divalent metal ion transporters), member 3
Synonym symbol(s)	IREG1, FPN1, MTP1, SLC11A3, MST079, MSTP079

DNA

TYPE	functioning gene
STRUCTURE	20.22 kb     8 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Binding site   metal/iron
motif
text structure	iron responsive element in the 5'utr, controlinggene expression through the cytoplasmic iron regulatory protein system

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_014585 8 - 3381 NP_055400 62.5 571 - 2000 10747949

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol blood / hematopoietic spleen         Digestive intestine small intestine duodenum       liver       highly Endocrine parathyroid       highly Hearing/Equilibrium ear       highly Urinary kidney

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal   highly

cells

System Cell Pubmed Species Stage Rna symbol Blood/Hematopoietic kupffer Digestive enterocyte Digestive hepatocyte Lymphoid/Immune macrophage

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

embryo, pregnancy

Text	placenta, pregnant uterus, expressed in muscle and central nervous system cells in the embryo

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	ten transmembrane domains
	a reductase site
	a basolateral localization signal

mono polymer

heptamer

HOMOLOGY

Homologene

FAMILY

SLC40A transporter family

CATEGORY

transport carrier

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm
text	basal surface of syncitio trophoblasts, basolateral membrane of enterocyte
	localized to the basolateral membrane of the duodenal epithelial cell and a cytoplasmic compartment of reticuloendothelial system cells

basic FUNCTION	transport of iron from mother to fetal circulation
	also involved in iron export from enterocytes
	playing a critical role in intestinal iron absorption
	iron-regulated membrane-spanning protein that is involved in intracellular iron metabolism
	encodes a cellular iron exporter expressed in macrophages, enterocytes, and hepatocytes

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

development , exocytosis transport

text	being essential early in development
	having an important function in the extraembryonic visceral endoderm

PATHWAY

metabolism

signaling

a component

TET1-RNF217-SLC40A1 axis regulates likely iron homeostasis

INTERACTION

DNA

RNA

small molecule

protein	HAMP
	MZF1 is a transcription factor that regulates SLC40A1 expression
	ZNF217 is a transcriptional repressor that inhibits SLC40A1 expression
	RNF217 gene is a target of TET1, mediating the ubiquitination and subsequent degradation of SLC40A1

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

HFE4

Susceptibility

to iron overload in African-American

Variant & Polymorphism SNP	SNP Gln248His increasing the risk of iron overload in African-American

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

hypochromic anemia of zebrafish, mutation weissherbst