フェロポーチン

SLC40A1

識別子

記号

SLC40A1, IREG1, MST079, MSTP079, solute carrier family 40 member 1, MTP1, SLC11A3, FPN1, HFE4

外部ID

OMIM: 604653 MGI: 1315204 HomoloGene: 40959 GeneCards: SLC40A1

遺伝子の位置 (ヒト)

染色体	2番染色体 (ヒト)^[1]

バンド	データ無し	開始点	189,560,590 bp^[1]
バンド	データ無し	終点	189,583,758 bp^[1]

遺伝子の位置 (マウス)

染色体	1番染色体 (マウス)^[2]

バンド	データ無し	開始点	45,947,228 bp^[2]
バンド	データ無し	終点	45,965,683 bp^[2]

遺伝子オントロジー
分子機能	• ferrous iron transmembrane transporter activity • iron ion transmembrane transporter activity • peptide hormone binding • 血漿タンパク結合 • identical protein binding
細胞の構成要素	• 細胞質 • integral component of membrane • 膜 • シナプス小胞 • 細胞膜 • integral component of plasma membrane • 細胞内 • basolateral plasma membrane • 核質 • 細胞質基質
生物学的プロセス	• iron ion transmembrane transport • lymphocyte homeostasis • spleen trabecula formation • iron ion homeostasis • negative regulation of apoptotic process • イオン輸送 • 脾臓発生 • multicellular organismal iron ion homeostasis • iron ion transport • endothelium development • iron ion export across plasma membrane • positive regulation of transcription by RNA polymerase II • cellular iron ion homeostasis • regulation of transcription from RNA polymerase II promoter in response to iron
出典:Amigo / QuickGO

オルソログ

種

ヒト

マウス

Entrez


30061


53945

Ensembl


ENSG00000138449


ENSMUSG00000025993

UniProt


Q9NP59


Q9JHI9

RefSeq
(mRNA)


NM_014585


NM_016917

RefSeq
(タンパク質)


NP_055400


NP_058613

場所
(UCSC)

Chr 2: 189.56 – 189.58 Mb

Chr 2: 45.95 – 45.97 Mb

PubMed検索

^[3]

^[4]

ウィキデータ

閲覧/編集ヒト

閲覧/編集マウス

フェロポーチン (Ferroportin) は、SLC40A1遺伝子によってコードされるタンパク質。細胞膜に存在し、細胞の内側から外側へ鉄イオンを輸送する機能を持つ膜貫通タンパク質である。

生化学

鉄イオン排出時の生化学反応: Fe²⁺/Mn²⁺ (in) + nH⁺ (out) ⇌ Fe²⁺/Mn^²⁺ (out) + nH⁺ (in)

脚注

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000138449 - Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000025993 - Ensembl, May 2017
^ Human PubMed Reference:
^ Mouse PubMed Reference:

参考文献

“In vitro functional analysis of human ferroportin (FPN) and hemochromatosis-associated FPN mutations”. Blood 105 (10): 4096–102. (May 2005). doi:10.1182/blood-2004-11-4502. PMID 15692071.
Pietrangelo A (2004). “The ferroportin disease”. Blood Cells Mol. Dis. 32 (1): 131–8. doi:10.1016/j.bcmd.2003.08.003. PMID 14757427.
“Recent advances in understanding haemochromatosis: a transition state”. J. Med. Genet. 41 (10): 721–30. (October 2004). doi:10.1136/jmg.2004.020644. PMC 1735598. PMID 15466004. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1735598/.
“Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides”. Gene 138 (1-2): 171–4. (January 1994). doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
“Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library”. Gene 200 (1-2): 149–56. (October 1997). doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
“A novel mammalian iron-regulated protein involved in intracellular iron metabolism”. J. Biol. Chem. 275 (26): 19906–12. (June 2000). doi:10.1074/jbc.M000713200. PMID 10747949.
Haile DJ (2000). “Assignment of Slc11a3 to mouse chromosome 1 band 1B and SLC11A3 to human chromosome 2q32 by in situ hybridization”. Cytogenet. Cell Genet. 88 (3-4): 328–9. doi:10.1159/000015522. PMID 10828623.
“A novel duodenal iron-regulated transporter, IREG1, implicated in the basolateral transfer of iron to the circulation”. Mol. Cell 5 (2): 299–309. (February 2000). doi:10.1016/S1097-2765(00)80425-6. PMID 10882071.
“DNA cloning using in vitro site-specific recombination”. Genome Res. 10 (11): 1788–95. (November 2000). doi:10.1101/gr.143000. PMC 310948. PMID 11076863. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC310948/.
“A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis”. Nat. Genet. 28 (3): 213–4. (July 2001). doi:10.1038/90038. PMID 11431687.
“Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene”. J. Clin. Invest. 108 (4): 619–23. (August 2001). doi:10.1172/JCI13468. PMC 209405. PMID 11518736. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC209405/.
Press RD (December 2001). “Hemochromatosis caused by mutations in the iron-regulatory proteins ferroportin and H ferritin”. Mol. Diagn. 6 (4): 347. doi:10.1054/modi.2001.0060347. PMID 11774199.
“A study of genes that may modulate the expression of hereditary hemochromatosis: transferrin receptor-1, ferroportin, ceruloplasmin, ferritin light and heavy chains, iron regulatory proteins (IRP)-1 and -2, and hepcidin”. Blood Cells Mol. Dis. 27 (5): 783–802. (2001). doi:10.1006/bcmd.2001.0445. PMID 11783942.
“Intestinal expression of genes involved in iron absorption in humans”. Am. J. Physiol. Gastrointest. Liver Physiol. 282 (4): G598–607. (April 2002). doi:10.1152/ajpgi.00371.2001. PMID 11897618.
“IEC-6 cells are an appropriate model of intestinal iron absorption in rats”. J. Nutr. 132 (4): 680–7. (April 2002). PMID 11925460.
“Novel mutation in ferroportin1 is associated with autosomal dominant hemochromatosis”. Blood 100 (2): 692–4. (July 2002). doi:10.1182/blood.v100.2.692. PMID 12091366.
“Autosomal dominant reticuloendothelial iron overload associated with a 3-base pair deletion in the ferroportin 1 gene (SLC11A3)”. Blood 100 (2): 695–7. (July 2002). doi:10.1182/blood-2001-11-0132. PMID 12091367.
“A valine deletion of ferroportin 1: a common mutation in hemochromastosis type 4”. Blood 100 (2): 733–4. (July 2002). doi:10.1182/blood-2002-03-0693. PMID 12123233.