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Q9HD23

- MRS2_HUMAN

UniProt

Q9HD23 - MRS2_HUMAN

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Protein

Magnesium transporter MRS2 homolog, mitochondrial

Gene

MRS2

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...

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

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini50 – 339290Mitochondrial matrixSequence AnalysisAdd
BLAST
Transmembranei340 – 36021HelicalSequence AnalysisAdd
BLAST
Topological domaini361 – 37212Mitochondrial intermembraneSequence AnalysisAdd
BLAST
Transmembranei373 – 39321HelicalSequence AnalysisAdd
BLAST
Topological domaini394 – 44350Mitochondrial matrixSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. integral component of membrane Source: UniProtKB-KW
  2. mitochondrial inner membrane Source: UniProtKB-KW
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 – 4949MitochondrionSequence AnalysisAdd
BLAST
Chaini50 – 443394Magnesium transporter MRS2 homolog, mitochondrialPRO_0000042837Add
BLAST

Proteomic databases

MaxQBiQ9HD23.
PaxDbiQ9HD23.
PRIDEiQ9HD23.

PTM databases

PhosphoSiteiQ9HD23.

Expressioni

Gene expression databases

BgeeiQ9HD23.
CleanExiHS_MRS2.
ExpressionAtlasiQ9HD23. baseline and differential.
GenevestigatoriQ9HD23.

Organism-specific databases

HPAiHPA017642.

Interactioni

Protein-protein interaction databases

BioGridi121498. 14 interactions.
IntActiQ9HD23. 1 interaction.
STRINGi9606.ENSP00000367637.

Structurei

3D structure databases

ProteinModelPortaliQ9HD23.
SMRiQ9HD23. Positions 80-332.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transit peptide, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG284534.
GeneTreeiENSGT00390000009988.
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

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

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. 1 PublicationVSP_016207Add
BLAST
Alternative sequencei118 – 443326Missing in isoform 3. 1 PublicationVSP_016208Add
BLAST
Alternative sequencei139 – 15921YLKAV…RNLNL → KYSLLLESVASILQNSVSFM ERQT in isoform 4. 1 PublicationVSP_055287Add
BLAST
Alternative sequencei408 – 4081M → V in isoform 2. 2 PublicationsVSP_016209
Alternative sequencei409 – 44335Missing in isoform 2. 2 PublicationsVSP_016210Add
BLAST

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.3. human. [Q9HD23-2]
uc003neb.3. human. [Q9HD23-1]
uc011djl.2. human.

Polymorphism databases

DMDMi74752816.

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 .
CCDSi CCDS4552.1. [Q9HD23-1 ]
CCDS69055.1. [Q9HD23-4 ]
CCDS75408.1. [Q9HD23-2 ]
RefSeqi NP_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 ]
UniGenei Hs.658612.
Hs.732395.

3D structure databases

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

Protein-protein interaction databases

BioGridi 121498. 14 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 ENST00000378353 ; ENSP00000367604 ; ENSG00000124532 . [Q9HD23-2 ]
ENST00000378386 ; ENSP00000367637 ; ENSG00000124532 . [Q9HD23-1 ]
ENST00000443868 ; ENSP00000399585 ; ENSG00000124532 . [Q9HD23-4 ]
GeneIDi 57380.
KEGGi hsa:57380.
UCSCi uc003nea.3. human. [Q9HD23-2 ]
uc003neb.3. human. [Q9HD23-1 ]
uc011djl.2. human.

Organism-specific databases

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

Phylogenomic databases

eggNOGi NOG284534.
GeneTreei ENSGT00390000009988.
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

Bgeei Q9HD23.
CleanExi HS_MRS2.
ExpressionAtlasi Q9HD23. baseline and differential.
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: October 29, 2014
This is version 107 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