GENTAUR Molecular Products.

 MRS2_HUMAN              Reviewed;         443 AA.
 Q9HD23; A8K4U3; B3KNN2; B4DQL2; Q5T3Y1; Q6NTG4; Q96KF8; Q9BVP1;
 22-NOV-2005, integrated into UniProtKB/Swiss-Prot.
 01-MAR-2001, sequence version 1.
 12-SEP-2018, entry version 138.
 RecName: Full=Magnesium transporter MRS2 homolog, mitochondrial;
 AltName: Full=MRS2-like protein;
 Flags: Precursor;
 Name=MRS2; Synonyms=HPT, MRS2L;
 Homo sapiens (Human).
 Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
 Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
 Catarrhini; Hominidae; Homo.
 NCBI_TaxID=9606;
 [1]
 NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), NUCLEOTIDE SEQUENCE [GENOMIC
 DNA] OF 241-278, FUNCTION, AND SUBCELLULAR LOCATION.
 PubMed=11401429; DOI=10.1006/geno.2000.6407;
 Zsurka G., Gregan J., Schweyen R.J.;
 "The human mitochondrial Mrs2 protein functionally substitutes for its
 yeast homologue, a candidate magnesium transporter.";
 Genomics 72:158-168(2001).
 [2]
 NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
 Bosma T.J., MacDiarmid C.W., Gardner R.C.;
 "Putative mammalian magnesium transporters.";
 Submitted (JUL-2000) to the EMBL/GenBank/DDBJ databases.
 [3]
 NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 2 AND 4).
 PubMed=14702039; DOI=10.1038/ng1285;
 Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
 Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
 Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
 Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
 Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
 Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
 Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
 Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
 Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
 Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
 Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
 Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
 Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
 Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
 Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
 Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
 Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
 Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
 Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
 Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
 Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
 Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
 Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
 Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
 Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
 Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
 Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
 Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
 "Complete sequencing and characterization of 21,243 full-length human
 cDNAs.";
 Nat. Genet. 36:40-45(2004).
 [4]
 NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
 PubMed=14574404; DOI=10.1038/nature02055;
 Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L.,
 Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E.,
 Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R.,
 Almeida J.P., Ambrose K.D., Andrews T.D., Ashwell R.I.S.,
 Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J.,
 Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P.,
 Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y.,
 Burford D.C., Burrill W., Burton J., Carder C., Carter N.P.,
 Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V.,
 Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J.,
 Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E.,
 Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A.,
 Frankland J., French L., Garner P., Garnett J., Ghori M.J.,
 Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M.,
 Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S.,
 Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R.,
 Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E.,
 Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A.,
 Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C.,
 Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M.,
 Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M.,
 Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K.,
 McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T.,
 Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R.,
 Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W.,
 Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M.,
 Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L.,
 Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J.,
 Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B.,
 Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L.,
 Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W.,
 Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A.,
 Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.;
 "The DNA sequence and analysis of human chromosome 6.";
 Nature 425:805-811(2003).
 [5]
 NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
 Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
 Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
 Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
 Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
 Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
 Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
 Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
 Venter J.C.;
 Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
 [6]
 NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 3).
 TISSUE=Lung, and Lymph;
 PubMed=15489334; DOI=10.1101/gr.2596504;
 The MGC Project Team;
 "The status, quality, and expansion of the NIH full-length cDNA
 project: the Mammalian Gene Collection (MGC).";
 Genome Res. 14:2121-2127(2004).
 [7]
 FUNCTION.
 PubMed=18384665; DOI=10.1111/j.1582-4934.2008.00328.x;
 Piskacek M., Zotova L., Zsurka G., Schweyen R.J.;
 "Conditional knockdown of hMRS2 results in loss of mitochondrial
 Mg(2+) uptake and cell death.";
 J. Cell. Mol. Med. 13:693-700(2009).
 [8]
 IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
 PubMed=19608861; DOI=10.1126/science.1175371;
 Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M.,
 Walther T.C., Olsen J.V., Mann M.;
 "Lysine acetylation targets protein complexes and co-regulates major
 cellular functions.";
 Science 325:834-840(2009).
 -!- FUNCTION: Magnesium transporter that mediates the influx of
     magnesium into the mitochondrial matrix (PubMed:11401429,
     PubMed:18384665). Required for normal expression of the
     mitochondrial respiratory complex I subunits (PubMed:18384665).
     {ECO:0000269|PubMed:11401429, ECO:0000269|PubMed:18384665}.
 -!- SUBCELLULAR LOCATION: Mitochondrion inner membrane
     {ECO:0000269|PubMed:11401429, ECO:0000305|PubMed:18384665}; Multi-
     pass membrane protein {ECO:0000305}.
 -!- ALTERNATIVE PRODUCTS:
     Event=Alternative splicing; Named isoforms=4;
     Name=1;
       IsoId=Q9HD23-1; Sequence=Displayed;
     Name=2;
       IsoId=Q9HD23-2; Sequence=VSP_016209, VSP_016210;
     Name=3;
       IsoId=Q9HD23-3; Sequence=VSP_016207, VSP_016208;
       Note=No experimental confirmation available.;
     Name=4;
       IsoId=Q9HD23-4; Sequence=VSP_055287;
       Note=No experimental confirmation available.;
 -!- MISCELLANEOUS: Has the ability to complement a deletion of MRS2 in
     S.cerevisiae and partly restore mitochondrial magnesium
     concentrations.
 -!- SIMILARITY: Belongs to the CorA metal ion transporter (MIT) (TC
     1.A.35) family. {ECO:0000305}.
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 EMBL; AF293076; AAK38615.1; -; mRNA.
 EMBL; AF293078; AAK38617.1; -; Genomic_DNA.
 EMBL; AF288288; AAG01170.1; -; mRNA.
 EMBL; AK054587; BAG51394.1; -; mRNA.
 EMBL; AK291058; BAF83747.1; -; mRNA.
 EMBL; AK298849; BAG60974.1; -; mRNA.
 EMBL; AL359713; -; NOT_ANNOTATED_CDS; Genomic_DNA.
 EMBL; CH471087; EAW55445.1; -; Genomic_DNA.
 EMBL; CH471087; EAW55446.1; -; Genomic_DNA.
 EMBL; BC001028; AAH01028.2; -; mRNA.
 EMBL; BC069009; AAH69009.1; -; mRNA.
 CCDS; CCDS4552.1; -. [Q9HD23-1]
 CCDS; CCDS69055.1; -. [Q9HD23-4]
 CCDS; CCDS75408.1; -. [Q9HD23-2]
 RefSeq; NP_001273193.1; NM_001286264.1. [Q9HD23-4]
 RefSeq; NP_001273194.1; NM_001286265.1. [Q9HD23-2]
 RefSeq; NP_001273195.1; NM_001286266.1.
 RefSeq; NP_065713.1; NM_020662.3. [Q9HD23-1]
 UniGene; Hs.658612; -.
 UniGene; Hs.732395; -.
 ProteinModelPortal; Q9HD23; -.
 SMR; Q9HD23; -.
 BioGrid; 121498; 38.
 IntAct; Q9HD23; 6.
 MINT; Q9HD23; -.
 STRING; 9606.ENSP00000367637; -.
 TCDB; 1.A.35.5.7; the cora metal ion transporter (mit) family.
 iPTMnet; Q9HD23; -.
 PhosphoSitePlus; Q9HD23; -.
 BioMuta; MRS2; -.
 DMDM; 74752816; -.
 EPD; Q9HD23; -.
 MaxQB; Q9HD23; -.
 PaxDb; Q9HD23; -.
 PeptideAtlas; Q9HD23; -.
 PRIDE; Q9HD23; -.
 ProteomicsDB; 81814; -.
 ProteomicsDB; 81815; -. [Q9HD23-2]
 ProteomicsDB; 81816; -. [Q9HD23-3]
 DNASU; 57380; -.
 Ensembl; ENST00000378353; ENSP00000367604; ENSG00000124532. [Q9HD23-2]
 Ensembl; ENST00000378386; ENSP00000367637; ENSG00000124532. [Q9HD23-1]
 Ensembl; ENST00000443868; ENSP00000399585; ENSG00000124532. [Q9HD23-4]
 GeneID; 57380; -.
 KEGG; hsa:57380; -.
 UCSC; uc003nea.5; human. [Q9HD23-1]
 CTD; 57380; -.
 DisGeNET; 57380; -.
 EuPathDB; HostDB:ENSG00000124532.14; -.
 GeneCards; MRS2; -.
 HGNC; HGNC:13785; MRS2.
 HPA; HPA017642; -.
 neXtProt; NX_Q9HD23; -.
 OpenTargets; ENSG00000124532; -.
 PharmGKB; PA162396189; -.
 eggNOG; KOG2662; Eukaryota.
 eggNOG; ENOG410XNNZ; LUCA.
 GeneTree; ENSGT00390000009988; -.
 HOGENOM; HOG000013083; -.
 HOVERGEN; HBG103267; -.
 InParanoid; Q9HD23; -.
 KO; K16075; -.
 OMA; EEDHRIF; -.
 OrthoDB; EOG091G094B; -.
 PhylomeDB; Q9HD23; -.
 TreeFam; TF328433; -.
 Reactome; R-HSA-5223345; Miscellaneous transport and binding events.
 ChiTaRS; MRS2; human.
 GeneWiki; MRS2L; -.
 GenomeRNAi; 57380; -.
 PRO; PR:Q9HD23; -.
 Proteomes; UP000005640; Chromosome 6.
 Bgee; ENSG00000124532; Expressed in 221 organ(s), highest expression level in muscle of leg.
 CleanEx; HS_MRS2; -.
 ExpressionAtlas; Q9HD23; baseline and differential.
 Genevisible; Q9HD23; HS.
 GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
 GO; GO:0005743; C:mitochondrial inner membrane; IBA:GO_Central.
 GO; GO:0005739; C:mitochondrion; IDA:UniProtKB.
 GO; GO:0015095; F:magnesium ion transmembrane transporter activity; IMP:UniProtKB.
 GO; GO:0045016; P:mitochondrial magnesium ion transmembrane transport; IMP:UniProtKB.
 GO; GO:0055085; P:transmembrane transport; TAS:Reactome.
 1: Evidence at protein level;
 Alternative splicing; Complete proteome; Ion transport; Magnesium;
 Membrane; Mitochondrion; Mitochondrion inner membrane; Polymorphism;
 Reference proteome; Transit peptide; Transmembrane;
 Transmembrane helix; Transport.
 TRANSIT       1     49       Mitochondrion. {ECO:0000255}.
 CHAIN        50    443       Magnesium transporter MRS2 homolog,
                              mitochondrial.
                              /FTId=PRO_0000042837.
 TOPO_DOM     50    339       Mitochondrial matrix. {ECO:0000255}.
 TRANSMEM    340    360       Helical. {ECO:0000255}.
 TOPO_DOM    361    372       Mitochondrial intermembrane.
                              {ECO:0000255}.
 TRANSMEM    373    393       Helical. {ECO:0000255}.
 TOPO_DOM    394    443       Mitochondrial matrix. {ECO:0000255}.
 VAR_SEQ     101    117       ERKKTELYQELGLQARD -> VFESCDNSRVSSDIRLS
                              (in isoform 3).
                              {ECO:0000303|PubMed:15489334}.
                              /FTId=VSP_016207.
 VAR_SEQ     118    443       Missing (in isoform 3).
                              {ECO:0000303|PubMed:15489334}.
                              /FTId=VSP_016208.
 VAR_SEQ     139    159       YLKAVITPECLLILDYRNLNL -> KYSLLLESVASILQNS
                              VSFMERQT (in isoform 4).
                              {ECO:0000303|PubMed:14702039}.
                              /FTId=VSP_055287.
 VAR_SEQ     408    408       M -> V (in isoform 2).
                              {ECO:0000303|PubMed:14702039,
                              ECO:0000303|PubMed:15489334}.
                              /FTId=VSP_016209.
 VAR_SEQ     409    443       Missing (in isoform 2).
                              {ECO:0000303|PubMed:14702039,
                              ECO:0000303|PubMed:15489334}.
                              /FTId=VSP_016210.
 VARIANT      35     35       P -> S (in dbSNP:rs2295651).
                              /FTId=VAR_023782.
 VARIANT     412    412       P -> S (in dbSNP:rs35261004).
                              /FTId=VAR_061129.
 SEQUENCE   443 AA;  50318 MW;  396EEFB64A8BB14F CRC64;
 MECLRSLPCL LPRAMRLPRR TLCALALDVT SVGPPVAACG RRANLIGRSR AAQLCGPDRL
 RVAGEVHRFR TSDVSQATLA SVAPVFTVTK FDKQGNVTSF ERKKTELYQE LGLQARDLRF
 QHVMSITVRN NRIIMRMEYL KAVITPECLL ILDYRNLNLE QWLFRELPSQ LSGEGQLVTY
 PLPFEFRAIE ALLQYWINTL QGKLSILQPL ILETLDALVD PKHSSVDRSK LHILLQNGKS
 LSELETDIKI FKESILEILD EEELLEELCV SKWSDPQVFE KSSAGIDHAE EMELLLENYY
 RLADDLSNAA RELRVLIDDS QSIIFINLDS HRNVMMRLNL QLTMGTFSLS LFGLMGVAFG
 MNLESSLEED HRIFWLITGI MFMGSGLIWR RLLSFLGRQL EAPLPPMMAS LPKKTLLADR
 SMELKNSLRL DGLGSGRSIL TNR

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