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Protein

Magnesium transporter MRS2 homolog, mitochondrial

Gene

MRS2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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).2 Publications

Miscellaneous

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

GO - Molecular functioni

  • magnesium ion transmembrane transporter activity Source: UniProtKB

GO - Biological processi

  • lactate metabolic process Source: Ensembl
  • mitochondrial magnesium ion transmembrane transport Source: UniProtKB
  • transmembrane transport Source: Reactome

Keywordsi

Biological processIon transport, Transport
LigandMagnesium

Enzyme and pathway databases

ReactomeiR-HSA-5223345 Miscellaneous transport and binding events

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
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

EuPathDBiHostDB:ENSG00000124532.14
HGNCiHGNC:13785 MRS2
neXtProtiNX_Q9HD23

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini50 – 339Mitochondrial matrixSequence analysisAdd BLAST290
Transmembranei340 – 360HelicalSequence analysisAdd BLAST21
Topological domaini361 – 372Mitochondrial intermembraneSequence analysisAdd BLAST12
Transmembranei373 – 393HelicalSequence analysisAdd BLAST21
Topological domaini394 – 443Mitochondrial matrixSequence analysisAdd BLAST50

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi57380
OpenTargetsiENSG00000124532
PharmGKBiPA162396189

Polymorphism and mutation databases

BioMutaiMRS2
DMDMi74752816

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transit peptidei1 – 49MitochondrionSequence analysisAdd BLAST49
ChainiPRO_000004283750 – 443Magnesium transporter MRS2 homolog, mitochondrialAdd BLAST394

Proteomic databases

EPDiQ9HD23
MaxQBiQ9HD23
PaxDbiQ9HD23
PeptideAtlasiQ9HD23
PRIDEiQ9HD23

PTM databases

iPTMnetiQ9HD23
PhosphoSitePlusiQ9HD23

Expressioni

Gene expression databases

BgeeiENSG00000124532
CleanExiHS_MRS2
ExpressionAtlasiQ9HD23 baseline and differential
GenevisibleiQ9HD23 HS

Organism-specific databases

HPAiHPA017642

Interactioni

Protein-protein interaction databases

BioGridi121498, 38 interactors
IntActiQ9HD23, 6 interactors
MINTiQ9HD23
STRINGi9606.ENSP00000367637

Structurei

3D structure databases

ProteinModelPortaliQ9HD23
SMRiQ9HD23
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transit peptide, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG2662 Eukaryota
ENOG410XNNZ LUCA
GeneTreeiENSGT00390000009988
HOGENOMiHOG000013083
HOVERGENiHBG103267
InParanoidiQ9HD23
KOiK16075
OMAiEEDHRIF
OrthoDBiEOG091G094B
PhylomeDBiQ9HD23
TreeFamiTF328433

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. AlignAdd to basket

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

        10         20         30         40         50
MECLRSLPCL LPRAMRLPRR TLCALALDVT SVGPPVAACG RRANLIGRSR
60 70 80 90 100
AAQLCGPDRL RVAGEVHRFR TSDVSQATLA SVAPVFTVTK FDKQGNVTSF
110 120 130 140 150
ERKKTELYQE LGLQARDLRF QHVMSITVRN NRIIMRMEYL KAVITPECLL
160 170 180 190 200
ILDYRNLNLE QWLFRELPSQ LSGEGQLVTY PLPFEFRAIE ALLQYWINTL
210 220 230 240 250
QGKLSILQPL ILETLDALVD PKHSSVDRSK LHILLQNGKS LSELETDIKI
260 270 280 290 300
FKESILEILD EEELLEELCV SKWSDPQVFE KSSAGIDHAE EMELLLENYY
310 320 330 340 350
RLADDLSNAA RELRVLIDDS QSIIFINLDS HRNVMMRLNL QLTMGTFSLS
360 370 380 390 400
LFGLMGVAFG MNLESSLEED HRIFWLITGI MFMGSGLIWR RLLSFLGRQL
410 420 430 440
EAPLPPMMAS LPKKTLLADR SMELKNSLRL DGLGSGRSIL TNR
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 differs from that shown. Reason: Erroneous gene model prediction.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02378235P → S. Corresponds to variant dbSNP:rs2295651Ensembl.1
Natural variantiVAR_061129412P → S. Corresponds to variant dbSNP:rs35261004Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_016207101 – 117ERKKT…LQARD → VFESCDNSRVSSDIRLS in isoform 3. 1 PublicationAdd BLAST17
Alternative sequenceiVSP_016208118 – 443Missing in isoform 3. 1 PublicationAdd BLAST326
Alternative sequenceiVSP_055287139 – 159YLKAV…RNLNL → KYSLLLESVASILQNSVSFM ERQT in isoform 4. 1 PublicationAdd BLAST21
Alternative sequenceiVSP_016209408M → V in isoform 2. 2 Publications1
Alternative sequenceiVSP_016210409 – 443Missing in isoform 2. 2 PublicationsAdd BLAST35

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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]
CCDS69055.1 [Q9HD23-4]
CCDS75408.1 [Q9HD23-2]
RefSeqiNP_001273193.1, NM_001286264.1 [Q9HD23-4]
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

EnsembliENST00000378353; ENSP00000367604; ENSG00000124532 [Q9HD23-2]
ENST00000378386; ENSP00000367637; ENSG00000124532 [Q9HD23-1]
ENST00000443868; ENSP00000399585; ENSG00000124532 [Q9HD23-4]
GeneIDi57380
KEGGihsa:57380
UCSCiuc003nea.5 human [Q9HD23-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiMRS2_HUMAN
AccessioniPrimary (citable) accession number: Q9HD23
Secondary accession number(s): A8K4U3
, B3KNN2, B4DQL2, Q5T3Y1, Q6NTG4, Q96KF8, Q9BVP1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 22, 2005
Last sequence update: March 1, 2001
Last modified: April 25, 2018
This is version 136 of the entry and version 1 of the sequence. See 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

Keywords - Technical termi

Complete proteome, Reference proteome
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health