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Q13505

- MTX1_HUMAN

UniProt

Q13505 - MTX1_HUMAN

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Protein

Metaxin-1

Gene
MTX1, MTX, MTXN
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5 - Experimental evidence at protein leveli

Functioni

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

GO - Biological processi

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

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

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei421 – 44121Helical; Reviewed predictionAdd
BLAST

GO - Cellular componenti

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

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.

Family & Domainsi

Sequence similaritiesi

Belongs to the metaxin family.

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. VSP_035741Add
BLAST
Alternative sequencei227 – 25731Missing in isoform 2. VSP_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

« Hide 'large scale' publications
  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: September 3, 2014
This is version 117 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

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