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2024-04-24 13:56:32, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_014585 3381 bp mRNA linear PRI 07-JUL-2013
DEFINITION Homo sapiens solute carrier family 40 (iron-regulated transporter),
member 1 (SLC40A1), mRNA.
ACCESSION NM_014585
VERSION NM_014585.5 GI:187607385
KEYWORDS RefSeq.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (bases 1 to 3381)
AUTHORS Wu,J.R., Yuan,L.X., Ma,Z.G., Chen,X.X., Gu,L. and Gao,J.
TITLE GDF15-mediated upregulation of ferroportin plays a key role in the
development of hyperferritinemia in children with hemophagocytic
lymphohistiocytosis
JOURNAL Pediatr Blood Cancer 60 (6), 940-945 (2013)
PUBMED 23335088
REMARK GeneRIF: Our study suggests that GDF15 induction helps suppress
further activation of macrophages in stressful physiologic states
as hemophagocytic lymphohistiocytosis...resulting in enhanced
ferroportin-mediated iron efflux.
REFERENCE 2 (bases 1 to 3381)
AUTHORS Nairz,M., Schleicher,U., Schroll,A., Sonnweber,T., Theurl,I.,
Ludwiczek,S., Talasz,H., Brandacher,G., Moser,P.L.,
Muckenthaler,M.U., Fang,F.C., Bogdan,C. and Weiss,G.
TITLE Nitric oxide-mediated regulation of ferroportin-1 controls
macrophage iron homeostasis and immune function in Salmonella
infection
JOURNAL J. Exp. Med. 210 (5), 855-873 (2013)
PUBMED 23630227
REMARK GeneRIF: Nitric oxide up-regulated the expression of ferroportin-1
(Fpn1), the major cellular iron exporter, in mouse and human cells.
REFERENCE 3 (bases 1 to 3381)
AUTHORS Panton,N.A., Strickland,N.J., Hift,R.J., Warnich,L. and Zaahl,M.G.
TITLE Iron homeostasis in porphyria cutanea tarda: mutation analysis of
promoter regions of CP, CYBRD1, HAMP and SLC40A1
JOURNAL J. Clin. Pathol. 66 (2), 160-161 (2013)
PUBMED 23012398
REMARK GeneRIF: Letter: report mutations in SLC40A1 promoter in and
possible role in iron hemostasis in patients with porphyria cutanea
tarda.
REFERENCE 4 (bases 1 to 3381)
AUTHORS Del-Castillo-Rueda,A., Moreno-Carralero,M.I., Cuadrado-Grande,N.,
Alvarez-Sala-Walther,L.A., Enriquez-de-Salamanca,R., Mendez,M. and
Moran-Jimenez,M.J.
TITLE Mutations in the HFE, TFR2, and SLC40A1 genes in patients with
hemochromatosis
JOURNAL Gene 508 (1), 15-20 (2012)
PUBMED 22890139
REMARK GeneRIF: Mutations in the SLC40A1 gene is associated with
hemochromatosis.
REFERENCE 5 (bases 1 to 3381)
AUTHORS Luo,X., Jiang,Q., Song,G., Liu,Y.L., Xu,Z.G. and Guo,Z.Y.
TITLE Efficient oxidative folding and site-specific labeling of human
hepcidin to study its interaction with receptor ferroportin
JOURNAL FEBS J. 279 (17), 3166-3175 (2012)
PUBMED 22776295
REMARK GeneRIF: labeled hepcidin was also a suitable tool to visualize
internalization of overexpressed or even endogenously expressed
ferroportin without tags
REFERENCE 6 (bases 1 to 3381)
AUTHORS Simpson,J.C., Wellenreuther,R., Poustka,A., Pepperkok,R. and
Wiemann,S.
TITLE Systematic subcellular localization of novel proteins identified by
large-scale cDNA sequencing
JOURNAL EMBO Rep. 1 (3), 287-292 (2000)
PUBMED 11256614
REFERENCE 7 (bases 1 to 3381)
AUTHORS Abboud,S. and Haile,D.J.
TITLE A novel mammalian iron-regulated protein involved in intracellular
iron metabolism
JOURNAL J. Biol. Chem. 275 (26), 19906-19912 (2000)
PUBMED 10747949
REFERENCE 8 (bases 1 to 3381)
AUTHORS Donovan,A., Brownlie,A., Zhou,Y., Shepard,J., Pratt,S.J.,
Moynihan,J., Paw,B.H., Drejer,A., Barut,B., Zapata,A., Law,T.C.,
Brugnara,C., Lux,S.E., Pinkus,G.S., Pinkus,J.L., Kingsley,P.D.,
Palis,J., Fleming,M.D., Andrews,N.C. and Zon,L.I.
TITLE Positional cloning of zebrafish ferroportin1 identifies a conserved
vertebrate iron exporter
JOURNAL Nature 403 (6771), 776-781 (2000)
PUBMED 10693807
REFERENCE 9 (bases 1 to 3381)
AUTHORS McKie,A.T., Marciani,P., Rolfs,A., Brennan,K., Wehr,K., Barrow,D.,
Miret,S., Bomford,A., Peters,T.J., Farzaneh,F., Hediger,M.A.,
Hentze,M.W. and Simpson,R.J.
TITLE A novel duodenal iron-regulated transporter, IREG1, implicated in
the basolateral transfer of iron to the circulation
JOURNAL Mol. Cell 5 (2), 299-309 (2000)
PUBMED 10882071
REFERENCE 10 (bases 1 to 3381)
AUTHORS Haile,D.J.
TITLE Assignment of Slc11a3 to mouse chromosome 1 band 1B and SLC11A3 to
human chromosome 2q32 by in situ hybridization
JOURNAL Cytogenet. Cell Genet. 88 (3-4), 328-329 (2000)
PUBMED 10828623
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from DA806565.1 and BC037733.1.
This sequence is a reference standard in the RefSeqGene project.
On May 7, 2008 this sequence version replaced gi:142387698.
Summary: The protein encoded by this gene is a cell membrane
protein that may be involved in iron export from duodenal
epithelial cells. Defects in this gene are a cause of
hemochromatosis type 4 (HFE4). [provided by RefSeq, Jul 2008].
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the Gene
record to access additional publications.
##Evidence-Data-START##
Transcript exon combination :: BC037733.1, AK223236.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025084, ERS025088 [ECO:0000348]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-495 DA806565.1 1-495
496-3381 BC037733.1 575-3460
FEATURES Location/Qualifiers
source 1..3381
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="2"
/map="2q32"
gene 1..3381
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/note="solute carrier family 40 (iron-regulated
transporter), member 1"
/db_xref="GeneID:30061"
/db_xref="HGNC:10909"
/db_xref="HPRD:05229"
/db_xref="MIM:604653"
exon 1..394
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/inference="alignment:Splign:1.39.8"
variation 21..22
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/replace=""
/replace="c"
/replace="cgg"
/replace="g"
/db_xref="dbSNP:16836041"
variation complement(28..29)
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/replace=""
/replace="gcg"
/db_xref="dbSNP:72226739"
variation complement(38)
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/replace=""
/replace="g"
/db_xref="dbSNP:199856978"
variation complement(41..42)
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/replace=""
/replace="cgg"
/db_xref="dbSNP:371896375"
variation 42..43
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/replace=""
/replace="cgg"
/db_xref="dbSNP:3833570"
misc_feature 247..249
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/note="upstream in-frame stop codon"
variation complement(254)
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/replace="c"
/replace="g"
/db_xref="dbSNP:13008848"
variation complement(267)
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/replace="c"
/replace="g"
/db_xref="dbSNP:143976296"
variation complement(329)
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/replace="a"
/replace="g"
/db_xref="dbSNP:114904726"
variation 344
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/replace="c"
/replace="g"
/db_xref="dbSNP:11568351"
CDS 352..2067
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/note="solute carrier family 11 (proton-coupled divalent
metal ion transporters), member 3; iron regulated gene 1;
putative ferroportin 1 variant IIIB"
/codon_start=1
/product="solute carrier family 40 member 1"
/protein_id="NP_055400.1"
/db_xref="GI:7657100"
/db_xref="CCDS:CCDS2299.1"
/db_xref="GeneID:30061"
/db_xref="HGNC:10909"
/db_xref="HPRD:05229"
/db_xref="MIM:604653"
/translation="
MTRAGDHNRQRGCCGSLADYLTSAKFLLYLGHSLSTWGDRMWHFAVSVFLVELYGNSLLLTAVYGLVVAGSVLVLGAIIGDWVDKNARLKVAQTSLVVQNVSVILCGIILMMVFLHKHELLTMYHGWVLTSCYILIITIANIANLASTATAITIQRDWIVVVAGEDRSKLANMNATIRRIDQLTNILAPMAVGQIMTFGSPVIGCGFISGWNLVSMCVEYVLLWKVYQKTPALAVKAGLKEEETELKQLNLHKDTEPKPLEGTHLMGVKDSNIHELEHEQEPTCASQMAEPFRTFRDGWVSYYNQPVFLAGMGLAFLYMTVLGFDCITTGYAYTQGLSGSILSILMGASAITGIMGTVAFTWLRRKCGLVRTGLISGLAQLSCLILCVISVFMPGSPLDLSVSPFEDIRSRFIQGESITPTKIPEITTEIYMSNGSNSANIVPETSPESVPIISVSLLFAGVIAARIGLWSFDLTVTQLLQENVIESERGIINGVQNSMNYLLDLLHFIMVILAPNPEAFGLLVLISVSFVAMGHIMYFRFAQNTLGNKLFACGPDAKEVRKENQANTSVV
"
misc_feature 385..453
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9NP59.1);
transmembrane region"
misc_feature 415..1944
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/note="Ferroportin1 (FPN1); Region: FPN1; pfam06963"
/db_xref="CDD:203552"
misc_feature 523..591
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9NP59.1);
transmembrane region"
misc_feature 628..696
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9NP59.1);
transmembrane region"
misc_feature 724..792
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9NP59.1);
transmembrane region"
misc_feature <1219..1557
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/note="Major Facilitator Superfamily; Region: MFS_1;
pfam07690"
/db_xref="CDD:191813"
misc_feature 1246..1314
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9NP59.1);
transmembrane region"
misc_feature 1372..1440
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9NP59.1);
transmembrane region"
misc_feature 1459..1527
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9NP59.1);
transmembrane region"
misc_feature 1699..1767
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9NP59.1);
transmembrane region"
misc_feature 1825..1893
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9NP59.1);
transmembrane region"
misc_feature 1906..1974
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9NP59.1);
transmembrane region"
exon 395..462
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/inference="alignment:Splign:1.39.8"
variation complement(420)
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/replace="c"
/replace="t"
/db_xref="dbSNP:141664013"
variation complement(432)
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/replace="g"
/replace="t"
/db_xref="dbSNP:199556225"
exon 463..622
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/inference="alignment:Splign:1.39.8"
variation complement(469)
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/replace="c"
/replace="t"
/db_xref="dbSNP:80248011"
variation complement(489)
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/replace="a"
/replace="g"
/db_xref="dbSNP:368258215"
variation complement(508)
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/replace="a"
/replace="c"
/db_xref="dbSNP:140258599"
variation complement(565)
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/replace="c"
/replace="g"
/db_xref="dbSNP:374617058"
variation 581
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/replace="a"
/replace="c"
/db_xref="dbSNP:28939076"
variation 590
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/replace="g"
/replace="t"
/db_xref="dbSNP:104893673"
variation 613
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/replace="a"
/replace="g"
/db_xref="dbSNP:387907374"
variation complement(615)
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/replace="a"
/replace="g"
/db_xref="dbSNP:113211562"
exon 623..738
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/inference="alignment:Splign:1.39.8"
variation complement(645)
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/replace="a"
/replace="g"
/db_xref="dbSNP:143371720"
variation complement(657)
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/replace="a"
/replace="g"
/db_xref="dbSNP:201485374"
variation 678
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/replace="c"
/replace="t"
/db_xref="dbSNP:11568345"
variation complement(718)
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/replace="a"
/replace="g"
/db_xref="dbSNP:370057411"
variation 738
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/replace="c"
/replace="t"
/db_xref="dbSNP:11568344"
exon 739..865
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/inference="alignment:Splign:1.39.8"
variation 781
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/replace="a"
/replace="c"
/db_xref="dbSNP:104893662"
variation 821
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/replace="a"
/replace="g"
/db_xref="dbSNP:104893663"
variation 824
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/replace="g"
/replace="t"
/db_xref="dbSNP:387907375"
variation complement(826)
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/replace="a"
/replace="g"
/db_xref="dbSNP:375694920"
exon 866..1111
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/inference="alignment:Splign:1.39.8"
variation 893
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/replace="a"
/replace="t"
/db_xref="dbSNP:104893672"
variation 897
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/replace="g"
/replace="t"
/db_xref="dbSNP:104893670"
variation 904
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/replace="a"
/replace="g"
/db_xref="dbSNP:387907376"
variation complement(918)
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/replace="c"
/replace="t"
/db_xref="dbSNP:373705898"
variation complement(960)
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/replace="c"
/replace="t"
/db_xref="dbSNP:369846096"
variation complement(966)
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/replace="g"
/replace="t"
/db_xref="dbSNP:78975201"
variation complement(977)
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/replace="c"
/replace="t"
/db_xref="dbSNP:200018415"
variation complement(1003)
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/replace="a"
/replace="g"
/db_xref="dbSNP:199683014"
variation complement(1011)
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/replace="c"
/replace="t"
/db_xref="dbSNP:368843037"
variation complement(1014)
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/replace="c"
/replace="t"
/db_xref="dbSNP:2304704"
variation complement(1048)
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/replace="c"
/replace="g"
/db_xref="dbSNP:186912553"
variation complement(1094)
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/replace="a"
/replace="t"
/db_xref="dbSNP:147246197"
variation 1095
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/replace="g"
/replace="t"
/db_xref="dbSNP:11568350"
exon 1112..1753
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/inference="alignment:Splign:1.39.8"
variation complement(1120)
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/replace="c"
/replace="t"
/db_xref="dbSNP:374222688"
variation complement(1123)
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/replace="a"
/replace="g"
/db_xref="dbSNP:376475660"
variation complement(1130)
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/replace="c"
/replace="t"
/db_xref="dbSNP:371014218"
variation 1151
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/replace="a"
/replace="g"
/db_xref="dbSNP:104893664"
variation complement(1160)
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/replace="a"
/replace="t"
/db_xref="dbSNP:368420430"
variation complement(1180)
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/replace="c"
/replace="g"
/db_xref="dbSNP:374432689"
variation complement(1216)
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/replace="c"
/replace="g"
/db_xref="dbSNP:371047909"
variation complement(1228)
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/replace="c"
/replace="t"
/db_xref="dbSNP:149517113"
variation 1319
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/replace="g"
/replace="t"
/db_xref="dbSNP:104893671"
variation complement(1322)
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/replace="c"
/replace="t"
/db_xref="dbSNP:17853479"
variation complement(1333)
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/replace="a"
/replace="g"
/db_xref="dbSNP:113862937"
variation complement(1375)
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/replace="c"
/replace="t"
/db_xref="dbSNP:138367417"
variation complement(1402)
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/replace="a"
/replace="g"
/db_xref="dbSNP:375669132"
variation complement(1419)
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/replace="a"
/replace="g"
/db_xref="dbSNP:376758467"
variation complement(1462)
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/replace="c"
/replace="t"
/db_xref="dbSNP:146240138"
variation complement(1483)
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/replace="c"
/replace="t"
/db_xref="dbSNP:138505684"
variation complement(1528)
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/replace="a"
/replace="g"
/db_xref="dbSNP:190187808"
variation complement(1554)
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/replace="c"
/replace="t"
/db_xref="dbSNP:200345331"
variation complement(1555)
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/replace="g"
/replace="t"
/db_xref="dbSNP:77810585"
variation complement(1565)
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/replace="c"
/replace="t"
/db_xref="dbSNP:77570437"
variation complement(1576)
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/replace="c"
/replace="g"
/db_xref="dbSNP:370435973"
variation complement(1603)
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/replace="a"
/replace="g"
/db_xref="dbSNP:199629095"
variation complement(1607)
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/replace="c"
/replace="t"
/db_xref="dbSNP:200360961"
variation complement(1623..1624)
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/replace=""
/replace="g"
/db_xref="dbSNP:35277325"
variation 1645
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/replace="a"
/replace="g"
/db_xref="dbSNP:11568355"
variation complement(1646)
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/replace="c"
/replace="t"
/db_xref="dbSNP:372914788"
variation 1679
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/replace="c"
/replace="t"
/db_xref="dbSNP:45606432"
variation complement(1680)
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/replace="a"
/replace="g"
/db_xref="dbSNP:377650149"
variation complement(1701)
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/replace="a"
/replace="g"
/db_xref="dbSNP:370082794"
variation complement(1708)
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/replace="a"
/replace="t"
/db_xref="dbSNP:376571265"
variation complement(1722)
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/replace="a"
/replace="g"
/db_xref="dbSNP:375986187"
variation complement(1723)
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/replace="c"
/replace="g"
/db_xref="dbSNP:141801834"
variation complement(1734)
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/replace="c"
/replace="t"
/db_xref="dbSNP:113469677"
variation complement(1746)
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/replace="c"
/replace="t"
/db_xref="dbSNP:201434761"
exon 1754..3355
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/inference="alignment:Splign:1.39.8"
variation complement(1848)
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/replace="a"
/replace="g"
/db_xref="dbSNP:200982250"
variation complement(1921)
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/replace="a"
/replace="g"
/db_xref="dbSNP:142456282"
variation complement(1980)
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/replace="a"
/replace="g"
/db_xref="dbSNP:200789812"
STS 1988..2190
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/standard_name="D2S2575"
/db_xref="UniSTS:36426"
variation complement(2005)
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/replace="a"
/replace="g"
/db_xref="dbSNP:182470100"
variation complement(2010)
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/replace="c"
/replace="t"
/db_xref="dbSNP:112979454"
variation complement(2011)
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/replace="a"
/replace="g"
/db_xref="dbSNP:369255146"
variation complement(2018)
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/replace="a"
/replace="t"
/db_xref="dbSNP:149992028"
variation 2032
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/replace="a"
/replace="g"
/db_xref="dbSNP:11568346"
variation complement(2083)
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/replace="a"
/replace="g"
/db_xref="dbSNP:374394502"
variation complement(2086)
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/replace="a"
/replace="c"
/db_xref="dbSNP:372216215"
variation complement(2117)
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/replace="a"
/replace="g"
/db_xref="dbSNP:201805867"
variation complement(2356)
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/replace="g"
/replace="t"
/db_xref="dbSNP:61525883"
variation complement(2439)
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/replace="a"
/replace="g"
/db_xref="dbSNP:141221738"
variation 2532
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/replace="a"
/replace="t"
/db_xref="dbSNP:11539982"
variation complement(2789)
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/replace="c"
/replace="t"
/db_xref="dbSNP:371205681"
variation complement(2820)
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/replace="a"
/replace="g"
/db_xref="dbSNP:367652885"
STS 2882..2996
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/standard_name="WI-16551"
/db_xref="UniSTS:45818"
variation complement(2946)
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/replace="c"
/replace="t"
/db_xref="dbSNP:147807428"
variation complement(2980)
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/replace="g"
/replace="t"
/db_xref="dbSNP:189968883"
STS 3085..3284
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/standard_name="A002Q39"
/db_xref="UniSTS:17564"
variation complement(3092)
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/replace="a"
/replace="g"
/db_xref="dbSNP:188340901"
variation complement(3106)
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/replace="a"
/replace="g"
/db_xref="dbSNP:375974634"
variation complement(3122)
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/replace="c"
/replace="t"
/db_xref="dbSNP:373811309"
variation complement(3190)
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/replace="c"
/replace="t"
/db_xref="dbSNP:145534461"
variation complement(3196)
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/replace="c"
/replace="t"
/db_xref="dbSNP:11539984"
variation complement(3197)
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/replace="a"
/replace="g"
/db_xref="dbSNP:11539983"
variation complement(3221)
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/replace="a"
/replace="g"
/db_xref="dbSNP:183234009"
variation complement(3230)
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/replace="a"
/replace="t"
/db_xref="dbSNP:201137241"
variation complement(3312)
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
/replace="a"
/replace="t"
/db_xref="dbSNP:191898038"
polyA_site 3355
/gene="SLC40A1"
/gene_synonym="FPN1; HFE4; IREG1; MST079; MSTP079; MTP1;
SLC11A3"
ORIGIN
ataagagctgggcccggcccacggcggcggcggcggcggcggagagagctggctcagggcgtccgctaggctcggacgacctgctgagcctcccaaaccgcttccataaggctttgcctttccaacttcagctacagtgttagctaagtttggaaagaaggaaaaaagaaaatccctgggccccttttcttttgttctttgccaaagtcgtcgttgtagtctttttgcccaaggctgttgtgtttttagaggtgctatctccagttccttgcactcctgttaacaagcacctcagcgagagcagcagcagcgatagcagccgcagaagagccagcggggtcgcctagtgtcatgaccagggcgggagatcacaaccgccagagaggatgctgtggatccttggccgactacctgacctctgcaaaattccttctctaccttggtcattctctctctacttggggagatcggatgtggcactttgcggtgtctgtgtttctggtagagctctatggaaacagcctccttttgacagcagtctacgggctggtggtggcagggtctgttctggtcctgggagccatcatcggtgactgggtggacaagaatgctagacttaaagtggcccagacctcgctggtggtacagaatgtttcagtcatcctgtgtggaatcatcctgatgatggttttcttacataaacatgagcttctgaccatgtaccatggatgggttctcacttcctgctatatcctgatcatcactattgcaaatattgcaaatttggccagtactgctactgcaatcacaatccaaagggattggattgttgttgttgcaggagaagacagaagcaaactagcaaatatgaatgccacaatacgaaggattgaccagttaaccaacatcttagcccccatggctgttggccagattatgacatttggctccccagtcatcggctgtggctttatttcgggatggaacttggtatccatgtgcgtggagtacgttctgctctggaaggtttaccagaaaaccccagctctagctgtgaaagctggtcttaaagaagaggaaactgaattgaaacagctgaatttacacaaagatactgagccaaaacccctggagggaactcatctaatgggtgtgaaagactctaacatccatgagcttgaacatgagcaagagcctacttgtgcctcccagatggctgagcccttccgtaccttccgagatggatgggtctcctactacaaccagcctgtgtttctggctggcatgggtcttgctttcctttatatgactgtcctgggctttgactgcatcaccacagggtacgcctacactcagggactgagtggttccatcctcagtattttgatgggagcatcagctataactggaataatgggaactgtagcttttacttggctacgtcgaaaatgtggtttggttcggacaggtctgatctcaggattggcacagctttcctgtttgatcttgtgtgtgatctctgtattcatgcctggaagccccctggacttgtccgtttctccttttgaagatatccgatcaaggttcattcaaggagagtcaattacacctaccaagatacctgaaattacaactgaaatatacatgtctaatgggtctaattctgctaatattgtcccggagacaagtcctgaatctgtgcccataatctctgtcagtctgctgtttgcaggcgtcattgctgctagaatcggtctttggtcctttgatttaactgtgacacagttgctgcaagaaaatgtaattgaatctgaaagaggcattataaatggtgtacagaactccatgaactatcttcttgatcttctgcatttcatcatggtcatcctggctccaaatcctgaagcttttggcttgctcgtattgatttcagtctcctttgtggcaatgggccacattatgtatttccgatttgcccaaaatactctgggaaacaagctctttgcttgcggtcctgatgcaaaagaagttaggaaggaaaatcaagcaaatacatctgttgtttgagacagtttaactgttgctatcctgttactagattatatagagcacatgtgcttattttgtactgcagaattccaataaatggctgggtgttttgctctgtttttaccacagctgtgccttgagaactaaaagctgtttaggaaacctaagtcagcagaaattaactgattaatttcccttatgttgaggcatggaaaaaaaattggaaaagaaaaactcagtttaaatacggagactataatgataacactgaattcccctatttctcatgagtagatacaatcttacgtaaaagagtggttagtcacgtgaattcagttatcatttgacagattcttatctgtactagaattcagatatgtcagttttctgcaaaactcactcttgttcaagactagctaatttatttttttgcatcttagttatttttaaaaacaaattcttcaagtatgaagactaaattttgataactaatattatccttattgatcctattgatcttaaggtatttacatgtatgtggaaaaacaaaacacttaactagaattctctaataaggtttatggtttagcttaaagagcacctttgtatttttattatcagatggggcaacatattgtatgaagcatatgtagcacttcacagcatggttatcatgtaagctgcaggtagaagcaaagctgtaaagtagatttatcacacaatgactgcatacagacttcaaatatgtcaatagtttggtcatagaacctagaagccaaaagccacacagaagggcaagaatcccaatttaactcatgttatcatcattagtgatctgtgttgtagaacatgagggtgtaagccttcagcctggcaagttacatgtagaaagcccacacttgtgaaggttttgttttacaaatcacttgatttaacacactcaggtagaatatttttatttttactgttttatacccagaagttatttctacattgttctacagcaagaatattcataaaagtatccctttcaaatgcctttgagaagaatagaagaaaaaaagtttgtatatattttaaaaaattgttttaaaagtcagtttgcaacatgtctgtaccaagatggtactttgccttaaccgtttatatgcactttcatggagactgcaatacgttgctatgagcactttctttatccttggagtttaatcctttgcttcatctttctacagtatgacataatgatttgctatgttgtaaaatctttgtaaaaaatttctatataaaaatattttgaaaatcttaaaaaaaaaaaaaaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:30061 -> Molecular function: GO:0005381 [iron ion transmembrane transporter activity] evidence: IMP
GeneID:30061 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
GeneID:30061 -> Biological process: GO:0002260 [lymphocyte homeostasis] evidence: IEA
GeneID:30061 -> Biological process: GO:0003158 [endothelium development] evidence: IEA
GeneID:30061 -> Biological process: GO:0006879 [cellular iron ion homeostasis] evidence: IMP
GeneID:30061 -> Biological process: GO:0006879 [cellular iron ion homeostasis] evidence: TAS
GeneID:30061 -> Biological process: GO:0006915 [apoptotic process] evidence: IEA
GeneID:30061 -> Biological process: GO:0009653 [anatomical structure morphogenesis] evidence: TAS
GeneID:30061 -> Biological process: GO:0034755 [iron ion transmembrane transport] evidence: IMP
GeneID:30061 -> Biological process: GO:0055085 [transmembrane transport] evidence: TAS
GeneID:30061 -> Biological process: GO:0060345 [spleen trabecula formation] evidence: IEA
GeneID:30061 -> Biological process: GO:0060586 [multicellular organismal iron ion homeostasis] evidence: IEA
GeneID:30061 -> Cellular component: GO:0005737 [cytoplasm] evidence: TAS
GeneID:30061 -> Cellular component: GO:0005771 [multivesicular body] evidence: IEA
GeneID:30061 -> Cellular component: GO:0005886 [plasma membrane] evidence: IDA
GeneID:30061 -> Cellular component: GO:0005886 [plasma membrane] evidence: TAS
GeneID:30061 -> Cellular component: GO:0005887 [integral to plasma membrane] evidence: IC
GeneID:30061 -> Cellular component: GO:0008021 [synaptic vesicle] evidence: IEA
GeneID:30061 -> Cellular component: GO:0016021 [integral to membrane] evidence: TAS
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