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Q9HD23

- MRS2_HUMAN

UniProt

Q9HD23 - MRS2_HUMAN

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Protein
Magnesium transporter MRS2 homolog, mitochondrial
Gene
MRS2, HPT, MRS2L
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5 - Experimental evidence at protein leveli

Functioni

Magnesium transporter that may mediate the influx of magnesium into the mitochondrial matrix.1 Publication

GO - Molecular functioni

  1. magnesium ion transmembrane transporter activity Source: InterPro
Complete GO annotation...

GO - Biological processi

    Complete GO annotation...

    Keywords - Biological processi

    Ion transport, Transport

    Keywords - Ligandi

    Magnesium

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Magnesium transporter MRS2 homolog, mitochondrial
    Alternative name(s):
    MRS2-like protein
    Gene namesi
    Name:MRS2
    Synonyms:HPT, MRS2L
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 6

    Organism-specific databases

    HGNCiHGNC:13785. MRS2.

    Subcellular locationi

    Mitochondrion inner membrane; Multi-pass membrane protein By similarity 1 Publication

    Topology

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini50 – 339290Mitochondrial matrix Reviewed prediction
    Add
    BLAST
    Transmembranei340 – 36021Helical; Reviewed prediction
    Add
    BLAST
    Topological domaini361 – 37212Mitochondrial intermembrane Reviewed prediction
    Add
    BLAST
    Transmembranei373 – 39321Helical; Reviewed prediction
    Add
    BLAST
    Topological domaini394 – 44350Mitochondrial matrix Reviewed prediction
    Add
    BLAST

    GO - Cellular componenti

    1. integral component of membrane Source: UniProtKB-KW
    2. mitochondrial inner membrane Source: UniProtKB-SubCell
    Complete GO annotation...

    Keywords - Cellular componenti

    Membrane, Mitochondrion, Mitochondrion inner membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA162396189.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transit peptidei1 – 4949Mitochondrion Reviewed prediction
    Add
    BLAST
    Chaini50 – 443394Magnesium transporter MRS2 homolog, mitochondrial
    PRO_0000042837Add
    BLAST

    Proteomic databases

    MaxQBiQ9HD23.
    PaxDbiQ9HD23.
    PRIDEiQ9HD23.

    PTM databases

    PhosphoSiteiQ9HD23.

    Expressioni

    Gene expression databases

    ArrayExpressiQ9HD23.
    BgeeiQ9HD23.
    CleanExiHS_MRS2.
    GenevestigatoriQ9HD23.

    Organism-specific databases

    HPAiHPA017642.

    Interactioni

    Protein-protein interaction databases

    BioGridi121498. 3 interactions.
    IntActiQ9HD23. 1 interaction.
    STRINGi9606.ENSP00000367637.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9HD23.
    SMRiQ9HD23. Positions 80-332.

    Family & Domainsi

    Sequence similaritiesi

    Keywords - Domaini

    Transit peptide, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG284534.
    HOGENOMiHOG000013083.
    HOVERGENiHBG103267.
    InParanoidiQ9HD23.
    KOiK16075.
    OrthoDBiEOG7F7W8Z.
    PhylomeDBiQ9HD23.
    TreeFamiTF328433.

    Family and domain databases

    InterProiIPR026573. MRS2/LPE10.
    [Graphical view]
    PANTHERiPTHR13890. PTHR13890. 1 hit.

    Sequences (4)i

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 4 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9HD23-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MECLRSLPCL LPRAMRLPRR TLCALALDVT SVGPPVAACG RRANLIGRSR    50
    AAQLCGPDRL RVAGEVHRFR TSDVSQATLA SVAPVFTVTK FDKQGNVTSF 100
    ERKKTELYQE LGLQARDLRF QHVMSITVRN NRIIMRMEYL KAVITPECLL 150
    ILDYRNLNLE QWLFRELPSQ LSGEGQLVTY PLPFEFRAIE ALLQYWINTL 200
    QGKLSILQPL ILETLDALVD PKHSSVDRSK LHILLQNGKS LSELETDIKI 250
    FKESILEILD EEELLEELCV SKWSDPQVFE KSSAGIDHAE EMELLLENYY 300
    RLADDLSNAA RELRVLIDDS QSIIFINLDS HRNVMMRLNL QLTMGTFSLS 350
    LFGLMGVAFG MNLESSLEED HRIFWLITGI MFMGSGLIWR RLLSFLGRQL 400
    EAPLPPMMAS LPKKTLLADR SMELKNSLRL DGLGSGRSIL TNR 443
    Length:443
    Mass (Da):50,318
    Last modified:March 1, 2001 - v1
    Checksum:i396EEFB64A8BB14F
    GO
    Isoform 2 (identifier: Q9HD23-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         408-408: M → V
         409-443: Missing.

    Show »
    Length:408
    Mass (Da):46,491
    Checksum:i5BC6550A6444D27E
    GO
    Isoform 3 (identifier: Q9HD23-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         101-117: ERKKTELYQELGLQARD → VFESCDNSRVSSDIRLS
         118-443: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:117
    Mass (Da):12,691
    Checksum:i27AAD2D247E889C2
    GO
    Isoform 4 (identifier: Q9HD23-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         139-159: YLKAVITPECLLILDYRNLNL → KYSLLLESVASILQNSVSFMERQT

    Note: No experimental confirmation available.

    Show »
    Length:446
    Mass (Da):50,584
    Checksum:i5E2C71D8F6A34181
    GO

    Sequence cautioni

    The sequence CAI17109.1 differs from that shown. Reason: Erroneous gene model prediction.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti35 – 351P → S.
    Corresponds to variant rs2295651 [ dbSNP | Ensembl ].
    VAR_023782
    Natural varianti412 – 4121P → S.
    Corresponds to variant rs35261004 [ dbSNP | Ensembl ].
    VAR_061129

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei101 – 11717ERKKT…LQARD → VFESCDNSRVSSDIRLS in isoform 3.
    VSP_016207Add
    BLAST
    Alternative sequencei118 – 443326Missing in isoform 3.
    VSP_016208Add
    BLAST
    Alternative sequencei139 – 15921YLKAV…RNLNL → KYSLLLESVASILQNSVSFM ERQT in isoform 4.
    VSP_055287Add
    BLAST
    Alternative sequencei408 – 4081M → V in isoform 2.
    VSP_016209
    Alternative sequencei409 – 44335Missing in isoform 2.
    VSP_016210Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF293076 mRNA. Translation: AAK38615.1.
    AF293078 Genomic DNA. Translation: AAK38617.1.
    AF288288 mRNA. Translation: AAG01170.1.
    AK054587 mRNA. Translation: BAG51394.1.
    AK291058 mRNA. Translation: BAF83747.1.
    AK298849 mRNA. Translation: BAG60974.1.
    AL359713 Genomic DNA. Translation: CAI17107.1.
    AL359713 Genomic DNA. Translation: CAI17108.1.
    AL359713 Genomic DNA. Translation: CAI17109.1. Sequence problems.
    CH471087 Genomic DNA. Translation: EAW55445.1.
    CH471087 Genomic DNA. Translation: EAW55446.1.
    BC001028 mRNA. Translation: AAH01028.2.
    BC069009 mRNA. Translation: AAH69009.1.
    CCDSiCCDS4552.1. [Q9HD23-1]
    RefSeqiNP_001273193.1. NM_001286264.1.
    NP_001273194.1. NM_001286265.1. [Q9HD23-2]
    NP_001273195.1. NM_001286266.1.
    NP_065713.1. NM_020662.3. [Q9HD23-1]
    UniGeneiHs.658612.
    Hs.732395.

    Genome annotation databases

    EnsembliENST00000274747; ENSP00000274747; ENSG00000124532. [Q9HD23-3]
    ENST00000378353; ENSP00000367604; ENSG00000124532. [Q9HD23-2]
    ENST00000378386; ENSP00000367637; ENSG00000124532. [Q9HD23-1]
    ENST00000443868; ENSP00000399585; ENSG00000124532.
    GeneIDi57380.
    KEGGihsa:57380.
    UCSCiuc003nea.3. human. [Q9HD23-2]
    uc003neb.3. human. [Q9HD23-1]

    Polymorphism databases

    DMDMi74752816.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF293076 mRNA. Translation: AAK38615.1 .
    AF293078 Genomic DNA. Translation: AAK38617.1 .
    AF288288 mRNA. Translation: AAG01170.1 .
    AK054587 mRNA. Translation: BAG51394.1 .
    AK291058 mRNA. Translation: BAF83747.1 .
    AK298849 mRNA. Translation: BAG60974.1 .
    AL359713 Genomic DNA. Translation: CAI17107.1 .
    AL359713 Genomic DNA. Translation: CAI17108.1 .
    AL359713 Genomic DNA. Translation: CAI17109.1 . Sequence problems.
    CH471087 Genomic DNA. Translation: EAW55445.1 .
    CH471087 Genomic DNA. Translation: EAW55446.1 .
    BC001028 mRNA. Translation: AAH01028.2 .
    BC069009 mRNA. Translation: AAH69009.1 .
    CCDSi CCDS4552.1. [Q9HD23-1 ]
    RefSeqi NP_001273193.1. NM_001286264.1.
    NP_001273194.1. NM_001286265.1. [Q9HD23-2 ]
    NP_001273195.1. NM_001286266.1.
    NP_065713.1. NM_020662.3. [Q9HD23-1 ]
    UniGenei Hs.658612.
    Hs.732395.

    3D structure databases

    ProteinModelPortali Q9HD23.
    SMRi Q9HD23. Positions 80-332.
    ModBasei Search...

    Protein-protein interaction databases

    BioGridi 121498. 3 interactions.
    IntActi Q9HD23. 1 interaction.
    STRINGi 9606.ENSP00000367637.

    PTM databases

    PhosphoSitei Q9HD23.

    Polymorphism databases

    DMDMi 74752816.

    Proteomic databases

    MaxQBi Q9HD23.
    PaxDbi Q9HD23.
    PRIDEi Q9HD23.

    Protocols and materials databases

    DNASUi 57380.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000274747 ; ENSP00000274747 ; ENSG00000124532 . [Q9HD23-3 ]
    ENST00000378353 ; ENSP00000367604 ; ENSG00000124532 . [Q9HD23-2 ]
    ENST00000378386 ; ENSP00000367637 ; ENSG00000124532 . [Q9HD23-1 ]
    ENST00000443868 ; ENSP00000399585 ; ENSG00000124532 .
    GeneIDi 57380.
    KEGGi hsa:57380.
    UCSCi uc003nea.3. human. [Q9HD23-2 ]
    uc003neb.3. human. [Q9HD23-1 ]

    Organism-specific databases

    CTDi 57380.
    GeneCardsi GC06P024403.
    HGNCi HGNC:13785. MRS2.
    HPAi HPA017642.
    neXtProti NX_Q9HD23.
    PharmGKBi PA162396189.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG284534.
    HOGENOMi HOG000013083.
    HOVERGENi HBG103267.
    InParanoidi Q9HD23.
    KOi K16075.
    OrthoDBi EOG7F7W8Z.
    PhylomeDBi Q9HD23.
    TreeFami TF328433.

    Miscellaneous databases

    ChiTaRSi MRS2. human.
    GeneWikii MRS2L.
    GenomeRNAii 57380.
    NextBioi 35474166.
    PROi Q9HD23.

    Gene expression databases

    ArrayExpressi Q9HD23.
    Bgeei Q9HD23.
    CleanExi HS_MRS2.
    Genevestigatori Q9HD23.

    Family and domain databases

    InterProi IPR026573. MRS2/LPE10.
    [Graphical view ]
    PANTHERi PTHR13890. PTHR13890. 1 hit.
    ProtoNeti Search...

    Publicationsi

    « Hide 'large scale' publications
    1. "The human mitochondrial Mrs2 protein functionally substitutes for its yeast homologue, a candidate magnesium transporter."
      Zsurka G., Gregan J., Schweyen R.J.
      Genomics 72:158-168(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 241-278, FUNCTION, SUBCELLULAR LOCATION.
    2. "Putative mammalian magnesium transporters."
      Bosma T.J., MacDiarmid C.W., Gardner R.C.
      Submitted (JUL-2000) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      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.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 2 AND 4).
    4. "The DNA sequence and analysis of human chromosome 6."
      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.
      Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 3).
      Tissue: Lung and Lymph.
    7. "Lysine acetylation targets protein complexes and co-regulates major cellular functions."
      Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T.C., Olsen J.V., Mann M.
      Science 325:834-840(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

    Entry informationi

    Entry nameiMRS2_HUMAN
    AccessioniPrimary (citable) accession number: Q9HD23
    Secondary accession number(s): A8K4U3
    , B3KNN2, B4DQL2, Q5T3Y1, Q6NTG4, Q96KF8, Q9BVP1
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 22, 2005
    Last sequence update: March 1, 2001
    Last modified: September 3, 2014
    This is version 105 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Miscellaneous

    Has the ability to complement a deletion of MRS2 in S.cerevisiae and partly restore mitochondrial magnesium concentrations.

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 6
      Human chromosome 6: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3

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