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Protein

Metaxin-1

Gene

MTX1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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).By similarity

GO - Biological processi

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 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:7504. MTX1.

Subcellular locationi

Topology

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

GO - Cellular componenti

  • integral component of membrane Source: ProtInc
  • mitochondrial outer membrane Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion outer membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA31306.

Polymorphism and mutation databases

BioMutaiMTX1.
DMDMi215274027.

PTM / Processingi

Molecule processing

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

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Cross-linki187 – 187Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)1 Publication
Cross-linki190 – 190Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)1 Publication
Cross-linki227 – 227Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)1 Publication
Cross-linki317 – 317Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)1 Publication

Post-translational modificationi

Ubiquitinated by PARK2 during mitophagy, leading to its degradation and enhancement of mitophagy. Deubiquitinated by USP30.1 Publication

Keywords - PTMi

Isopeptide bond, Ubl conjugation

Proteomic databases

MaxQBiQ13505.
PaxDbiQ13505.
PRIDEiQ13505.

PTM databases

PhosphoSiteiQ13505.

Expressioni

Gene expression databases

BgeeiQ13505.
CleanExiHS_MTX1.
ExpressionAtlasiQ13505. baseline.
GenevisibleiQ13505. HS.

Organism-specific databases

HPAiHPA011543.

Interactioni

Subunit structurei

Interacts with MTX2/metaxin-2. Associates with the mitochondrial contact site and cristae organizing system (MICOS) complex, composed of at least MINOS1/MIC10, CHCHD3/MIC19, CHCHD6/MIC25, APOOL/MIC27, IMMT/MIC60, APOO/MIC23/MIC26 and QIL1/MIC13. This complex was also known under the names MINOS or MitOS complex. The MICOS complex associates with mitochondrial outer membrane proteins SAMM50, MTX1, MTX2 and DNAJC11, mitochondrial inner membrane protein TMEM11 and with HSPA9.3 Publications

Protein-protein interaction databases

BioGridi110667. 16 interactions.
IntActiQ13505. 4 interactions.
MINTiMINT-3027869.
STRINGi9606.ENSP00000357360.

Structurei

3D structure databases

ProteinModelPortaliQ13505.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the metaxin family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG322737.
GeneTreeiENSGT00530000063166.
HOGENOMiHOG000237279.
HOVERGENiHBG001655.
InParanoidiQ13505.
KOiK17776.
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. AlignAdd to basket

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

        10         20         30         40         50
MLLGGPPRSP RSGTSPKGPW SSTGHVQFGK SPQTWPRRTR PRSPEPAAPS
60 70 80 90 100
GVRGSTWTRR RDTPRRAGPT ALSRYVGHLW MGRRPPSPEA RGPVPRSSAA
110 120 130 140 150
SRARRSLASP GISPGPLTAT IGGAVAGGGP RQGRAEAHKE VFPGQRVGKM
160 170 180 190 200
AAPMELFCWS GGWGLPSVDL DSLAVLTYAR FTGAPLKVHK ISNPWQSPSG
210 220 230 240 250
TLPALRTSHG EVISVPHKII THLRKEKYNA DYDLSARQGA DTLAFMSLLE
260 270 280 290 300
EKLLPVLVHT FWIDTKNYVE VTRKWYAEAM PFPLNFFLPG RMQRQYMERL
310 320 330 340 350
QLLTGEHRPE DEEELEKELY REARECLTLL SQRLGSQKFF FGDAPASLDA
360 370 380 390 400
FVFSYLALLL QAKLPSGKLQ VHLRGLHNLC AYCTHILSLY FPWDGAEVPP
410 420 430 440 450
QRQTPAGPET EEEPYRRRNQ ILSVLAGLAA MVGYALLSGI VSIQRATPAR
460
APGTRTLGMA EEDEEE
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:
EMBLi
GenBanki
DDBJi
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

EnsembliENST00000609421; ENSP00000476632; ENSG00000173171. [Q13505-3]
GeneIDi4580.
KEGGihsa:4580.
UCSCiuc001fjb.3. human. [Q13505-1]
uc001fjc.3. human. [Q13505-2]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.

3D structure databases

ProteinModelPortaliQ13505.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110667. 16 interactions.
IntActiQ13505. 4 interactions.
MINTiMINT-3027869.
STRINGi9606.ENSP00000357360.

PTM databases

PhosphoSiteiQ13505.

Polymorphism and mutation databases

BioMutaiMTX1.
DMDMi215274027.

Proteomic databases

MaxQBiQ13505.
PaxDbiQ13505.
PRIDEiQ13505.

Protocols and materials databases

DNASUi4580.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000609421; ENSP00000476632; ENSG00000173171. [Q13505-3]
GeneIDi4580.
KEGGihsa:4580.
UCSCiuc001fjb.3. human. [Q13505-1]
uc001fjc.3. human. [Q13505-2]

Organism-specific databases

CTDi4580.
GeneCardsiGC01P155178.
H-InvDBHIX0001121.
HGNCiHGNC:7504. MTX1.
HPAiHPA011543.
MIMi600605. gene.
neXtProtiNX_Q13505.
PharmGKBiPA31306.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG322737.
GeneTreeiENSGT00530000063166.
HOGENOMiHOG000237279.
HOVERGENiHBG001655.
InParanoidiQ13505.
KOiK17776.
OrthoDBiEOG7SV0VW.
PhylomeDBiQ13505.
TreeFamiTF313422.

Enzyme and pathway databases

ReactomeiREACT_118595. Mitochondrial protein import.

Miscellaneous databases

GeneWikiiMTX1.
GenomeRNAii4580.
NextBioi17589.
PROiQ13505.
SOURCEiSearch...

Gene expression databases

BgeeiQ13505.
CleanExiHS_MTX1.
ExpressionAtlasiQ13505. baseline.
GenevisibleiQ13505. HS.

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.
ProtoNetiSearch...

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.
  10. "QIL1 is a novel mitochondrial protein required for MICOS complex stability and cristae morphology."
    Guarani V., McNeill E.M., Paulo J.A., Huttlin E.L., Froehlich F., Gygi S.P., Van Vactor D., Harper J.W.
    Elife 4:0-0(2015) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH THE MICOS COMPLEX.
  11. "USP30 and parkin homeostatically regulate atypical ubiquitin chains on mitochondria."
    Cunningham C.N., Baughman J.M., Phu L., Tea J.S., Yu C., Coons M., Kirkpatrick D.S., Bingol B., Corn J.E.
    Nat. Cell Biol. 17:160-169(2015) [PubMed] [Europe PMC] [Abstract]
    Cited for: UBIQUITINATION AT LYS-187; LYS-190; LYS-227 AND LYS-317.

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: July 22, 2015
This is version 126 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.