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Q13505 (MTX1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 116. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Metaxin-1
Alternative name(s):
Mitochondrial outer membrane import complex protein 1
Gene names
Name:MTX1
Synonyms:MTX, MTXN
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length466 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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

Subunit structure

Interacts with MTX2/metaxin-2. Associates with the MINOS/MitOS complex, that includes IMMT, HSPA9 and CHCHD3. Ref.7 Ref.9

Subcellular location

Membrane; Single-pass type I membrane protein Potential. Mitochondrion outer membrane By similarity.

Sequence similarities

Belongs to the metaxin family.

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q13505-1)

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: Q13505-2)

The sequence of this isoform differs from the canonical sequence as follows:
     227-257: Missing.
Isoform 3 (identifier: Q13505-3)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 466466Metaxin-1
PRO_0000220991

Regions

Transmembrane421 – 44121Helical; Potential

Natural variations

Alternative sequence1 – 149149Missing in isoform 3.
VSP_035741
Alternative sequence227 – 25731Missing in isoform 2.
VSP_035742
Natural variant631T → S. Ref.5 Ref.6
Corresponds to variant rs760077 [ dbSNP | Ensembl ].
VAR_047376

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified November 25, 2008. Version 2.
Checksum: 593627546AB45BC4

FASTA46651,477
        10         20         30         40         50         60 
MLLGGPPRSP RSGTSPKGPW SSTGHVQFGK SPQTWPRRTR PRSPEPAAPS GVRGSTWTRR 

        70         80         90        100        110        120 
RDTPRRAGPT ALSRYVGHLW MGRRPPSPEA RGPVPRSSAA SRARRSLASP GISPGPLTAT 

       130        140        150        160        170        180 
IGGAVAGGGP RQGRAEAHKE VFPGQRVGKM AAPMELFCWS GGWGLPSVDL DSLAVLTYAR 

       190        200        210        220        230        240 
FTGAPLKVHK ISNPWQSPSG TLPALRTSHG EVISVPHKII THLRKEKYNA DYDLSARQGA 

       250        260        270        280        290        300 
DTLAFMSLLE EKLLPVLVHT FWIDTKNYVE VTRKWYAEAM PFPLNFFLPG RMQRQYMERL 

       310        320        330        340        350        360 
QLLTGEHRPE DEEELEKELY REARECLTLL SQRLGSQKFF FGDAPASLDA FVFSYLALLL 

       370        380        390        400        410        420 
QAKLPSGKLQ VHLRGLHNLC AYCTHILSLY FPWDGAEVPP QRQTPAGPET EEEPYRRRNQ 

       430        440        450        460 
ILSVLAGLAA MVGYALLSGI VSIQRATPAR APGTRTLGMA EEDEEE 

« Hide

Isoform 2 [UniParc].

Checksum: 02B355D75A43113A
Show »

FASTA43548,009
Isoform 3 [UniParc].

Checksum: 6D747CC8A20136E6
Show »

FASTA31735,777

References

« Hide 'large scale' references
[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. expand/collapse author list , 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. expand/collapse author list , 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]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. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
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]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_002446.3. NM_002455.4.
NP_942584.2. NM_198883.3.
UniGeneHs.490874.

3D structure databases

ProteinModelPortalQ13505.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid110667. 6 interactions.
IntActQ13505. 4 interactions.
MINTMINT-3027869.
STRING9606.ENSP00000357360.

PTM databases

PhosphoSiteQ13505.

Polymorphism databases

DMDM215274027.

Proteomic databases

MaxQBQ13505.
PaxDbQ13505.
PRIDEQ13505.

Protocols and materials databases

DNASU4580.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000316721; ENSP00000317106; ENSG00000173171. [Q13505-2]
ENST00000368376; ENSP00000357360; ENSG00000173171. [Q13505-1]
ENST00000609421; ENSP00000476632; ENSG00000173171. [Q13505-3]
GeneID4580.
KEGGhsa:4580.
UCSCuc001fjb.3. human. [Q13505-1]
uc001fjc.3. human. [Q13505-2]

Organism-specific databases

CTD4580.
GeneCardsGC01P155178.
H-InvDBHIX0001121.
HGNCHGNC:7504. MTX1.
HPAHPA011543.
MIM600605. gene.
neXtProtNX_Q13505.
PharmGKBPA31306.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG322737.
HOGENOMHOG000237279.
HOVERGENHBG001655.
InParanoidQ13505.
KOK17776.
OMAYRRRNQI.
OrthoDBEOG7SV0VW.
PhylomeDBQ13505.
TreeFamTF313422.

Enzyme and pathway databases

ReactomeREACT_17015. Metabolism of proteins.

Gene expression databases

BgeeQ13505.
CleanExHS_MTX1.
GenevestigatorQ13505.

Family and domain databases

Gene3D1.20.1050.10. 1 hit.
InterProIPR010987. Glutathione-S-Trfase_C-like.
IPR019564. Sam37/metaxin.
[Graphical view]
PfamPF10568. Tom37. 1 hit.
PF11801. Tom37_C. 1 hit.
[Graphical view]
SUPFAMSSF47616. SSF47616. 1 hit.
ProtoNetSearch...

Other

GeneWikiMTX1.
GenomeRNAi4580.
NextBio17589.
PROQ13505.
SOURCESearch...

Entry information

Entry nameMTX1_HUMAN
AccessionPrimary (citable) accession number: Q13505
Secondary accession number(s): B1AVR9 expand/collapse secondary AC list , B1AVS0, B2R9P4, Q9BUU3
Entry history
Integrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: November 25, 2008
Last modified: July 9, 2014
This is version 116 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 1

Human chromosome 1: entries, gene names and cross-references to MIM