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Q13505

- MTX1_HUMAN

UniProt

Q13505 - MTX1_HUMAN

Protein

Metaxin-1

Gene

MTX1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 118 (01 Oct 2014)
      Sequence version 2 (25 Nov 2008)
      Previous versions | rss
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    Functioni

    Involved in transport of proteins into the mitochondrion. Essential for embryonic development By similarity.By similarity

    GO - Biological processi

    1. cellular protein metabolic process Source: Reactome
    2. protein targeting to mitochondrion Source: Reactome

    Keywords - Biological processi

    Protein transport, Transport

    Enzyme and pathway databases

    ReactomeiREACT_118595. Mitochondrial protein import.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Metaxin-1
    Alternative name(s):
    Mitochondrial outer membrane import complex protein 1
    Gene namesi
    Name:MTX1
    Synonyms:MTX, MTXN
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 1

    Organism-specific databases

    HGNCiHGNC:7504. MTX1.

    Subcellular locationi

    GO - Cellular componenti

    1. integral component of membrane Source: ProtInc
    2. mitochondrial inner membrane Source: Ensembl
    3. mitochondrial outer membrane Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Membrane, Mitochondrion, Mitochondrion outer membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA31306.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 466466Metaxin-1PRO_0000220991Add
    BLAST

    Proteomic databases

    MaxQBiQ13505.
    PaxDbiQ13505.
    PRIDEiQ13505.

    PTM databases

    PhosphoSiteiQ13505.

    Expressioni

    Gene expression databases

    BgeeiQ13505.
    CleanExiHS_MTX1.
    GenevestigatoriQ13505.

    Organism-specific databases

    HPAiHPA011543.

    Interactioni

    Subunit structurei

    Interacts with MTX2/metaxin-2. Associates with the MINOS/MitOS complex, that includes IMMT, HSPA9 and CHCHD3.2 Publications

    Protein-protein interaction databases

    BioGridi110667. 6 interactions.
    IntActiQ13505. 4 interactions.
    MINTiMINT-3027869.
    STRINGi9606.ENSP00000357360.

    Structurei

    3D structure databases

    ProteinModelPortaliQ13505.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei421 – 44121HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the metaxin family.Curated

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG322737.
    HOGENOMiHOG000237279.
    HOVERGENiHBG001655.
    InParanoidiQ13505.
    KOiK17776.
    OMAiYRRRNQI.
    OrthoDBiEOG7SV0VW.
    PhylomeDBiQ13505.
    TreeFamiTF313422.

    Family and domain databases

    Gene3Di1.20.1050.10. 1 hit.
    InterProiIPR010987. Glutathione-S-Trfase_C-like.
    IPR019564. Sam37/metaxin.
    [Graphical view]
    PfamiPF10568. Tom37. 1 hit.
    PF11801. Tom37_C. 1 hit.
    [Graphical view]
    SUPFAMiSSF47616. SSF47616. 1 hit.

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q13505-1) [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

    MLLGGPPRSP RSGTSPKGPW SSTGHVQFGK SPQTWPRRTR PRSPEPAAPS    50
    GVRGSTWTRR RDTPRRAGPT ALSRYVGHLW MGRRPPSPEA RGPVPRSSAA 100
    SRARRSLASP GISPGPLTAT IGGAVAGGGP RQGRAEAHKE VFPGQRVGKM 150
    AAPMELFCWS GGWGLPSVDL DSLAVLTYAR FTGAPLKVHK ISNPWQSPSG 200
    TLPALRTSHG EVISVPHKII THLRKEKYNA DYDLSARQGA DTLAFMSLLE 250
    EKLLPVLVHT FWIDTKNYVE VTRKWYAEAM PFPLNFFLPG RMQRQYMERL 300
    QLLTGEHRPE DEEELEKELY REARECLTLL SQRLGSQKFF FGDAPASLDA 350
    FVFSYLALLL QAKLPSGKLQ VHLRGLHNLC AYCTHILSLY FPWDGAEVPP 400
    QRQTPAGPET EEEPYRRRNQ ILSVLAGLAA MVGYALLSGI VSIQRATPAR 450
    APGTRTLGMA EEDEEE 466
    Length:466
    Mass (Da):51,477
    Last modified:November 25, 2008 - v2
    Checksum:i593627546AB45BC4
    GO
    Isoform 2 (identifier: Q13505-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         227-257: Missing.

    Show »
    Length:435
    Mass (Da):48,009
    Checksum:i02B355D75A43113A
    GO
    Isoform 3 (identifier: Q13505-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-149: Missing.

    Show »
    Length:317
    Mass (Da):35,777
    Checksum:i6D747CC8A20136E6
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti63 – 631T → S.2 Publications
    Corresponds to variant rs760077 [ dbSNP | Ensembl ].
    VAR_047376

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 149149Missing in isoform 3. 2 PublicationsVSP_035741Add
    BLAST
    Alternative sequencei227 – 25731Missing in isoform 2. 1 PublicationVSP_035742Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U46920 Genomic DNA. Translation: AAC50490.1.
    AF023268 Genomic DNA. Translation: AAC51819.1.
    AK313863 mRNA. Translation: BAG36591.1.
    AL713999 Genomic DNA. Translation: CAI95085.1.
    AL713999 Genomic DNA. Translation: CAI95086.1.
    CH471121 Genomic DNA. Translation: EAW53105.1.
    BC001906 mRNA. Translation: AAH01906.2.
    CCDSiCCDS1100.1. [Q13505-1]
    CCDS1101.1. [Q13505-2]
    RefSeqiNP_002446.3. NM_002455.4.
    NP_942584.2. NM_198883.3.
    UniGeneiHs.490874.

    Genome annotation databases

    EnsembliENST00000316721; ENSP00000317106; ENSG00000173171. [Q13505-2]
    ENST00000368376; ENSP00000357360; ENSG00000173171. [Q13505-1]
    ENST00000609421; ENSP00000476632; ENSG00000173171. [Q13505-3]
    GeneIDi4580.
    KEGGihsa:4580.
    UCSCiuc001fjb.3. human. [Q13505-1]
    uc001fjc.3. human. [Q13505-2]

    Polymorphism databases

    DMDMi215274027.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U46920 Genomic DNA. Translation: AAC50490.1 .
    AF023268 Genomic DNA. Translation: AAC51819.1 .
    AK313863 mRNA. Translation: BAG36591.1 .
    AL713999 Genomic DNA. Translation: CAI95085.1 .
    AL713999 Genomic DNA. Translation: CAI95086.1 .
    CH471121 Genomic DNA. Translation: EAW53105.1 .
    BC001906 mRNA. Translation: AAH01906.2 .
    CCDSi CCDS1100.1. [Q13505-1 ]
    CCDS1101.1. [Q13505-2 ]
    RefSeqi NP_002446.3. NM_002455.4.
    NP_942584.2. NM_198883.3.
    UniGenei Hs.490874.

    3D structure databases

    ProteinModelPortali Q13505.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 110667. 6 interactions.
    IntActi Q13505. 4 interactions.
    MINTi MINT-3027869.
    STRINGi 9606.ENSP00000357360.

    PTM databases

    PhosphoSitei Q13505.

    Polymorphism databases

    DMDMi 215274027.

    Proteomic databases

    MaxQBi Q13505.
    PaxDbi Q13505.
    PRIDEi Q13505.

    Protocols and materials databases

    DNASUi 4580.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000316721 ; ENSP00000317106 ; ENSG00000173171 . [Q13505-2 ]
    ENST00000368376 ; ENSP00000357360 ; ENSG00000173171 . [Q13505-1 ]
    ENST00000609421 ; ENSP00000476632 ; ENSG00000173171 . [Q13505-3 ]
    GeneIDi 4580.
    KEGGi hsa:4580.
    UCSCi uc001fjb.3. human. [Q13505-1 ]
    uc001fjc.3. human. [Q13505-2 ]

    Organism-specific databases

    CTDi 4580.
    GeneCardsi GC01P155178.
    H-InvDB HIX0001121.
    HGNCi HGNC:7504. MTX1.
    HPAi HPA011543.
    MIMi 600605. gene.
    neXtProti NX_Q13505.
    PharmGKBi PA31306.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG322737.
    HOGENOMi HOG000237279.
    HOVERGENi HBG001655.
    InParanoidi Q13505.
    KOi K17776.
    OMAi YRRRNQI.
    OrthoDBi EOG7SV0VW.
    PhylomeDBi Q13505.
    TreeFami TF313422.

    Enzyme and pathway databases

    Reactomei REACT_118595. Mitochondrial protein import.

    Miscellaneous databases

    GeneWikii MTX1.
    GenomeRNAii 4580.
    NextBioi 17589.
    PROi Q13505.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q13505.
    CleanExi HS_MTX1.
    Genevestigatori Q13505.

    Family and domain databases

    Gene3Di 1.20.1050.10. 1 hit.
    InterProi IPR010987. Glutathione-S-Trfase_C-like.
    IPR019564. Sam37/metaxin.
    [Graphical view ]
    Pfami PF10568. Tom37. 1 hit.
    PF11801. Tom37_C. 1 hit.
    [Graphical view ]
    SUPFAMi SSF47616. SSF47616. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "Structure and organization of the human metaxin gene (MTX) and pseudogene."
      Long G.L., Winfield S.L., Adolph K.W., Ginns E.I., Bornstein P.
      Genomics 33:177-184(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 3).
    2. "Identification of three additional genes contiguous to the glucocerebrosidase locus on chromosome 1q21: implications for Gaucher disease."
      Winfield S.L., Tayebi N., Martin B.M., Ginns E.I., Sidransky E.
      Genome Res. 7:1020-1026(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 3).
    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] (ISOFORM 3).
      Tissue: Testis.
    4. "The DNA sequence and biological annotation of human chromosome 1."
      Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
      , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
      Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT SER-63.
    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] (ISOFORM 2), VARIANT SER-63.
      Tissue: Placenta.
    7. "Metaxin 1 interacts with metaxin 2, a novel related protein associated with the mammalian mitochondrial outer membrane."
      Armstrong L.C., Saenz A.J., Bornstein P.
      J. Cell. Biochem. 74:11-22(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH MTX2.
    8. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    9. "MINOS1 is a conserved component of mitofilin complexes and required for mitochondrial function and cristae organization."
      Alkhaja A.K., Jans D.C., Nikolov M., Vukotic M., Lytovchenko O., Ludewig F., Schliebs W., Riedel D., Urlaub H., Jakobs S., Deckers M.
      Mol. Biol. Cell 23:247-257(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH THE MINOS/MITOS COMPLEX.

    Entry informationi

    Entry nameiMTX1_HUMAN
    AccessioniPrimary (citable) accession number: Q13505
    Secondary accession number(s): B1AVR9
    , B1AVS0, B2R9P4, Q9BUU3
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 15, 1998
    Last sequence update: November 25, 2008
    Last modified: October 1, 2014
    This is version 118 of the entry and version 2 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

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 1
      Human chromosome 1: 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. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3