Q9HD23 (MRS2_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 94.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Magnesium transporter MRS2 homolog, mitochondrial Alternative name(s): MRS2-like protein | ||||
| Gene names |
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| Organism | Homo sapiens (Human) [Reference proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 443 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is further processed into a mature form. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | Magnesium transporter that may mediate the influx of magnesium into the mitochondrial matrix. Ref.1 |
| Subcellular location | Mitochondrion inner membrane; Multi-pass membrane protein By similarity Ref.1. |
| Miscellaneous | Has the ability to complement a deletion of MRS2 in S.cerevisiae and partly restore mitochondrial magnesium concentrations. |
| Sequence similarities | Belongs to the CorA metal ion transporter (MIT) (TC 1.A.35) family. [View classification] |
| Sequence caution | The sequence CAI17109.1 differs from that shown. Reason: Erroneous gene model prediction. |
Ontologies
| Keywords | |
|---|---|
| Biological process | Ion transport Transport |
| Cellular component | Membrane Mitochondrion Mitochondrion inner membrane |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | Transit peptide Transmembrane Transmembrane helix |
| Ligand | Magnesium |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Cellular_component | integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW mitochondrial inner membraneInferred from electronic annotation. Source: UniProtKB-SubCell |
| Molecular_function | magnesium ion transmembrane transporter activity Inferred from electronic annotation. Source: InterPro |
| Complete GO annotation... | |
Alternative products
| This entry describes 3 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q9HD23-1) 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. | ||||||
| Isoform 2 (identifier: Q9HD23-2) The sequence of this isoform differs from the canonical sequence as follows: 408-408: M → V 409-443: Missing. | ||||||
| Isoform 3 (identifier: Q9HD23-3) The sequence of this isoform differs from the canonical sequence as follows: 101-117: ERKKTELYQELGLQARD → VFESCDNSRVSSDIRLS 118-443: Missing. | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Transit peptide | 1 – 49 | 49 | Mitochondrion Potential | ||||||
| Chain | 50 – 443 | 394 | Magnesium transporter MRS2 homolog, mitochondrial | PRO_0000042837 | |||||
Regions | |||||||||
| Topological domain | 50 – 339 | 290 | Mitochondrial matrix Potential | ||||||
| Transmembrane | 340 – 360 | 21 | Helical; Potential | ||||||
| Topological domain | 361 – 372 | 12 | Mitochondrial intermembrane Potential | ||||||
| Transmembrane | 373 – 393 | 21 | Helical; Potential | ||||||
| Topological domain | 394 – 443 | 50 | Mitochondrial matrix Potential | ||||||
Natural variations | |||||||||
| Alternative sequence | 101 – 117 | 17 | ERKKT…LQARD → VFESCDNSRVSSDIRLS in isoform 3. | VSP_016207 | |||||
| Alternative sequence | 118 – 443 | 326 | Missing in isoform 3. | VSP_016208 | |||||
| Alternative sequence | 408 | 1 | M → V in isoform 2. | VSP_016209 | |||||
| Alternative sequence | 409 – 443 | 35 | Missing in isoform 2. | VSP_016210 | |||||
| Natural variant | 35 | 1 | P → S. Corresponds to variant rs2295651 [ dbSNP | Ensembl ]. | VAR_023782 | |||||
| Natural variant | 412 | 1 | P → S. Corresponds to variant rs35261004 [ dbSNP | Ensembl ]. | VAR_061129 | |||||
Sequences
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References
| « Hide 'large scale' references | |
| [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. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2). |
| [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. Beck S.Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [5] | 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. Venter J.C.Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases 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]. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | 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. 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. |
| IPI | IPI00031487. IPI00646426. IPI00941475. |
| RefSeq | NP_065713.1. NM_020662.2. |
| UniGene | Hs.741269. |
3D structure databases | |
| ProteinModelPortal | Q9HD23. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q9HD23. 1 interaction. |
| STRING | 9606.ENSP00000367637. |
PTM databases | |
| PhosphoSite | Q9HD23. |
Polymorphism databases | |
| DMDM | 74752816. |
Proteomic databases | |
| PaxDb | Q9HD23. |
| PRIDE | Q9HD23. |
Protocols and materials databases | |
| DNASU | 57380. |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000274747; ENSP00000274747; ENSG00000124532. ENST00000378353; ENSP00000367604; ENSG00000124532. ENST00000378386; ENSP00000367637; ENSG00000124532. |
| GeneID | 57380. |
| KEGG | hsa:57380. |
| UCSC | uc003nea.3. human. uc003neb.3. human. |
Organism-specific databases | |
| CTD | 57380. |
| GeneCards | GC06P024403. |
| HGNC | HGNC:13785. MRS2. |
| neXtProt | NX_Q9HD23. |
| PharmGKB | PA162396189. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG284534. |
| HOGENOM | HOG000013083. |
| HOVERGEN | HBG103267. |
| InParanoid | Q9HD23. |
| KO | K16075. |
| OrthoDB | EOG4B8JDF. |
| PhylomeDB | Q9HD23. |
Gene expression databases | |
| ArrayExpress | Q9HD23. |
| Bgee | Q9HD23. |
| CleanEx | HS_MRS2. |
| Genevestigator | Q9HD23. |
| GermOnline | ENSG00000124532. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR026573. MRS2/LPE10. [Graphical view] |
| PANTHER | PTHR13890. PTHR13890. 1 hit. |
| ProtoNet | Search... |
Other | |
| ChiTaRS | MRS2. human. |
| GenomeRNAi | 57380. |
| NextBio | 63482. |
Entry information
| Entry name | MRS2_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q9HD23 Secondary accession number(s): A8K4U3 Q9BVP1 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any 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. | ||||||||
Relevant documents
| Human chromosome 6 Human chromosome 6: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| SIMILARITY comments Index of protein domains and families |

Clusters with
