MFRN2_HUMAN
ID MFRN2_HUMAN Reviewed; 364 AA.
AC Q96A46; Q4VBZ0; Q5T777; Q86VX5; Q969G8; Q9H2J3;
DT 16-MAY-2006, integrated into UniProtKB/Swiss-Prot.
DT 01-DEC-2001, sequence version 1.
DT 03-AUG-2022, entry version 165.
DE RecName: Full=Mitoferrin-2;
DE AltName: Full=Mitochondrial RNA-splicing protein 3/4 homolog;
DE Short=MRS3/4;
DE Short=hMRS3/4;
DE AltName: Full=Mitochondrial iron transporter 2;
DE AltName: Full=Solute carrier family 25 member 28;
GN Name=SLC25A28; Synonyms=MFRN2; ORFNames=NPD016;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), SUBCELLULAR LOCATION, AND
RP TISSUE SPECIFICITY.
RX PubMed=11297739; DOI=10.1016/s0014-5793(01)02319-5;
RA Li F.-Y., Nikali K., Gregan J., Leibiger I., Leibiger B., Schweyen R.,
RA Larsson C., Suomalainen A.;
RT "Characterization of a novel human putative mitochondrial transporter
RT homologous to the yeast mitochondrial RNA splicing proteins 3 and 4.";
RL FEBS Lett. 494:79-84(2001).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
RC TISSUE=Pituitary;
RA Xu X., Yang Y., Gao G., Xiao H., Chen Z., Han Z.;
RL Submitted (MAY-2000) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
RC TISSUE=Brain;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15164054; DOI=10.1038/nature02462;
RA Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L.,
RA Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K.,
RA Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L.,
RA Taylor A., Battles J., Bird C.P., Ainscough R., Almeida J.P.,
RA Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y.,
RA Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N.,
RA Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A.,
RA Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C.,
RA Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D.,
RA Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C.,
RA Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K.,
RA Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A.,
RA Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S.,
RA McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S.,
RA Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V.,
RA Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A.,
RA Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M.,
RA Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A.,
RA Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P.,
RA Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y.,
RA Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D.,
RA Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.;
RT "The DNA sequence and comparative analysis of human chromosome 10.";
RL Nature 429:375-381(2004).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Brain, Eye, and Salivary gland;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
CC -!- FUNCTION: Mitochondrial iron transporter that mediates iron uptake.
CC Probably required for heme synthesis of hemoproteins and Fe-S cluster
CC assembly in non-erythroid cells. The iron delivered into the
CC mitochondria, presumably as Fe(2+), is then probably delivered to
CC ferrochelatase to catalyze Fe(2+) incorporation into protoprophyrin IX
CC to make heme (By similarity). {ECO:0000250}.
CC -!- SUBCELLULAR LOCATION: Mitochondrion inner membrane
CC {ECO:0000269|PubMed:11297739}; Multi-pass membrane protein
CC {ECO:0000269|PubMed:11297739}. Note=Isoform 1 and isoform 2 are both
CC localized in the mitochondrion.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q96A46-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q96A46-2; Sequence=VSP_018414;
CC Name=3;
CC IsoId=Q96A46-3; Sequence=VSP_018413, VSP_018415;
CC -!- TISSUE SPECIFICITY: Ubiquitous. Expressed in placenta, lung, kidney,
CC pancreas, liver, brain, skeletal muscle and heart.
CC {ECO:0000269|PubMed:11297739}.
CC -!- SIMILARITY: Belongs to the mitochondrial carrier (TC 2.A.29) family.
CC {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH47312.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AF327402; AAK49519.1; -; mRNA.
DR EMBL; AF327403; AAK49520.1; -; mRNA.
DR EMBL; AJ303077; CAC27996.1; -; mRNA.
DR EMBL; AJ303078; CAC27997.1; -; mRNA.
DR EMBL; AF267854; AAG44723.1; -; mRNA.
DR EMBL; AL831943; CAH10774.1; -; mRNA.
DR EMBL; AL353719; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC047312; AAH47312.1; ALT_INIT; mRNA.
DR EMBL; BC058937; AAH58937.1; -; mRNA.
DR EMBL; BC076399; AAH76399.1; -; mRNA.
DR EMBL; BC094821; AAH94821.1; -; mRNA.
DR CCDS; CCDS41559.1; -. [Q96A46-1]
DR RefSeq; NP_112489.3; NM_031212.3. [Q96A46-1]
DR AlphaFoldDB; Q96A46; -.
DR SMR; Q96A46; -.
DR BioGRID; 123626; 32.
DR IntAct; Q96A46; 4.
DR MINT; Q96A46; -.
DR STRING; 9606.ENSP00000359526; -.
DR TCDB; 2.A.29.5.8; the mitochondrial carrier (mc) family.
DR iPTMnet; Q96A46; -.
DR PhosphoSitePlus; Q96A46; -.
DR BioMuta; SLC25A28; -.
DR DMDM; 74751734; -.
DR EPD; Q96A46; -.
DR jPOST; Q96A46; -.
DR MassIVE; Q96A46; -.
DR MaxQB; Q96A46; -.
DR PaxDb; Q96A46; -.
DR PeptideAtlas; Q96A46; -.
DR PRIDE; Q96A46; -.
DR ProteomicsDB; 75908; -. [Q96A46-1]
DR ProteomicsDB; 75909; -. [Q96A46-2]
DR ProteomicsDB; 75910; -. [Q96A46-3]
DR Antibodypedia; 31086; 140 antibodies from 19 providers.
DR DNASU; 81894; -.
DR Ensembl; ENST00000370495.6; ENSP00000359526.4; ENSG00000155287.11. [Q96A46-1]
DR GeneID; 81894; -.
DR KEGG; hsa:81894; -.
DR MANE-Select; ENST00000370495.6; ENSP00000359526.4; NM_031212.4; NP_112489.3.
DR UCSC; uc001kpx.3; human. [Q96A46-1]
DR CTD; 81894; -.
DR DisGeNET; 81894; -.
DR GeneCards; SLC25A28; -.
DR HGNC; HGNC:23472; SLC25A28.
DR HPA; ENSG00000155287; Low tissue specificity.
DR MIM; 609767; gene.
DR neXtProt; NX_Q96A46; -.
DR OpenTargets; ENSG00000155287; -.
DR PharmGKB; PA134867966; -.
DR VEuPathDB; HostDB:ENSG00000155287; -.
DR eggNOG; KOG0760; Eukaryota.
DR GeneTree; ENSGT00940000157049; -.
DR HOGENOM; CLU_015166_3_1_1; -.
DR InParanoid; Q96A46; -.
DR OMA; KVMNPSQ; -.
DR OrthoDB; 1056670at2759; -.
DR PhylomeDB; Q96A46; -.
DR TreeFam; TF314118; -.
DR PathwayCommons; Q96A46; -.
DR Reactome; R-HSA-1362409; Mitochondrial iron-sulfur cluster biogenesis.
DR SignaLink; Q96A46; -.
DR BioGRID-ORCS; 81894; 157 hits in 1082 CRISPR screens.
DR ChiTaRS; SLC25A28; human.
DR GenomeRNAi; 81894; -.
DR Pharos; Q96A46; Tbio.
DR PRO; PR:Q96A46; -.
DR Proteomes; UP000005640; Chromosome 10.
DR RNAct; Q96A46; protein.
DR Bgee; ENSG00000155287; Expressed in left testis and 189 other tissues.
DR ExpressionAtlas; Q96A46; baseline and differential.
DR Genevisible; Q96A46; HS.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0005743; C:mitochondrial inner membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0031966; C:mitochondrial membrane; IBA:GO_Central.
DR GO; GO:0015093; F:ferrous iron transmembrane transporter activity; IBA:GO_Central.
DR GO; GO:0048250; P:iron import into the mitochondrion; IBA:GO_Central.
DR GO; GO:0055072; P:iron ion homeostasis; IEA:UniProtKB-KW.
DR Gene3D; 1.50.40.10; -; 2.
DR InterPro; IPR018108; Mitochondrial_sb/sol_carrier.
DR InterPro; IPR023395; Mt_carrier_dom_sf.
DR Pfam; PF00153; Mito_carr; 3.
DR SUPFAM; SSF103506; SSF103506; 1.
DR PROSITE; PS50920; SOLCAR; 3.
PE 2: Evidence at transcript level;
KW Alternative splicing; Ion transport; Iron; Iron transport; Membrane;
KW Mitochondrion; Mitochondrion inner membrane; Reference proteome; Repeat;
KW Transmembrane; Transmembrane helix; Transport.
FT CHAIN 1..364
FT /note="Mitoferrin-2"
FT /id="PRO_0000235255"
FT TRANSMEM 72..91
FT /note="Helical; Name=1"
FT /evidence="ECO:0000255"
FT TRANSMEM 133..152
FT /note="Helical; Name=2"
FT /evidence="ECO:0000255"
FT TRANSMEM 170..189
FT /note="Helical; Name=3"
FT /evidence="ECO:0000255"
FT TRANSMEM 227..246
FT /note="Helical; Name=4"
FT /evidence="ECO:0000255"
FT TRANSMEM 261..280
FT /note="Helical; Name=5"
FT /evidence="ECO:0000255"
FT TRANSMEM 327..346
FT /note="Helical; Name=6"
FT /evidence="ECO:0000255"
FT REPEAT 70..158
FT /note="Solcar 1"
FT REPEAT 168..252
FT /note="Solcar 2"
FT REPEAT 259..352
FT /note="Solcar 3"
FT REGION 1..28
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 40..60
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..188
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:17974005, ECO:0000303|Ref.2"
FT /id="VSP_018413"
FT VAR_SEQ 1..187
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:11297739"
FT /id="VSP_018414"
FT VAR_SEQ 189..192
FT /note="NPAE -> MALL (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:17974005, ECO:0000303|Ref.2"
FT /id="VSP_018415"
SQ SEQUENCE 364 AA; 39272 MW; 22049C4F8DD7A577 CRC64;
MELEGRGAGG VAGGPAAGPG RSPGESALLD GWLQRGVGRG AGGGEAGACR PPVRQDPDSG
PDYEALPAGA TVTTHMVAGA VAGILEHCVM YPIDCVKTRM QSLQPDPAAR YRNVLEALWR
IIRTEGLWRP MRGLNVTATG AGPAHALYFA CYEKLKKTLS DVIHPGGNSH IANGAAGCVA
TLLHDAAMNP AEVVKQRMQM YNSPYHRVTD CVRAVWQNEG AGAFYRSYTT QLTMNVPFQA
IHFMTYEFLQ EHFNPQRRYN PSSHVLSGAC AGAVAAAATT PLDVCKTLLN TQESLALNSH
ITGHITGMAS AFRTVYQVGG VTAYFRGVQA RVIYQIPSTA IAWSVYEFFK YLITKRQEEW
RAGK
