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Protein

Magnesium transporter MRS2 homolog, mitochondrial

Gene

MRS2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

GO - Molecular functioni

  • magnesium ion transmembrane transporter activity Source: UniProtKB

GO - Biological processi

  • mitochondrial magnesium ion transmembrane transport Source: UniProtKB
  • mitochondrial magnesium ion transport Source: GO_Central
  • transmembrane transport Source: Reactome
Complete GO annotation...

Keywords - Biological processi

Ion transport, Transport

Keywords - Ligandi

Magnesium

Enzyme and pathway databases

BioCyciZFISH:ENSG00000124532-MONOMER.
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

HGNCiHGNC:13785. MRS2.

Subcellular locationi

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

GO - Cellular componenti

  • integral component of membrane Source: UniProtKB-KW
  • mitochondrial inner membrane Source: GO_Central
  • mitochondrion Source: UniProtKB
Complete GO annotation...

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. 33 interactors.
IntActiQ9HD23. 3 interactors.
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.
OMAiTYPLPFE.
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 rs2295651dbSNPEnsembl.1
Natural variantiVAR_061129412P → S.Corresponds to variant rs35261004dbSNPEnsembl.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

Cross-referencesi

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.

3D structure databases

ProteinModelPortaliQ9HD23.
SMRiQ9HD23.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121498. 33 interactors.
IntActiQ9HD23. 3 interactors.
STRINGi9606.ENSP00000367637.

PTM databases

iPTMnetiQ9HD23.
PhosphoSitePlusiQ9HD23.

Polymorphism and mutation databases

BioMutaiMRS2.
DMDMi74752816.

Proteomic databases

EPDiQ9HD23.
MaxQBiQ9HD23.
PaxDbiQ9HD23.
PeptideAtlasiQ9HD23.
PRIDEiQ9HD23.

Protocols and materials databases

DNASUi57380.
Structural Biology KnowledgebaseSearch...

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]

Organism-specific databases

CTDi57380.
DisGeNETi57380.
GeneCardsiMRS2.
HGNCiHGNC:13785. MRS2.
HPAiHPA017642.
neXtProtiNX_Q9HD23.
OpenTargetsiENSG00000124532.
PharmGKBiPA162396189.
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

BioCyciZFISH:ENSG00000124532-MONOMER.
ReactomeiR-HSA-5223345. Miscellaneous transport and binding events.

Miscellaneous databases

ChiTaRSiMRS2. human.
GeneWikiiMRS2L.
GenomeRNAii57380.
PROiQ9HD23.

Gene expression databases

BgeeiENSG00000124532.
CleanExiHS_MRS2.
ExpressionAtlasiQ9HD23. baseline and differential.
GenevisibleiQ9HD23. HS.

Family and domain databases

ProtoNetiSearch...

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: November 2, 2016
This is version 126 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.