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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

Keywordsi

Biological processProtein transport, Transport

Enzyme and pathway databases

ReactomeiR-HSA-1268020. Mitochondrial protein import.
R-HSA-8949613. Cristae formation.

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
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000173171.14.
HGNCiHGNC:7504. MTX1.

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei421 – 441HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion outer membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi4580.
OpenTargetsiENSG00000173171.
PharmGKBiPA31306.

Polymorphism and mutation databases

BioMutaiMTX1.
DMDMi215274027.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002209911 – 466Metaxin-1Add BLAST466

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Cross-linki187Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)1 Publication
Cross-linki190Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)1 Publication
Cross-linki227Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)1 Publication
Cross-linki317Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)1 Publication

Post-translational modificationi

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

Keywords - PTMi

Isopeptide bond, Ubl conjugation

Proteomic databases

EPDiQ13505.
MaxQBiQ13505.
PaxDbiQ13505.
PeptideAtlasiQ13505.
PRIDEiQ13505.
TopDownProteomicsiQ13505-1. [Q13505-1]
Q13505-3. [Q13505-3]

PTM databases

iPTMnetiQ13505.
PhosphoSitePlusiQ13505.

Expressioni

Gene expression databases

BgeeiENSG00000173171.
CleanExiHS_MTX1.
ExpressionAtlasiQ13505. baseline and differential.
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 and MTX2 (together described as components of the mitochondrial outer membrane sorting assembly machinery (SAM) complex) and DNAJC11, mitochondrial inner membrane protein TMEM11 and with HSPA9. The MICOS and SAM complexes together with DNAJC11 are part of a large protein complex spanning both membranes termed the mitochondrial intermembrane space bridging (MIB) complex.3 Publications

Protein-protein interaction databases

BioGridi110667. 36 interactors.
CORUMiQ13505.
IntActiQ13505. 4 interactors.
MINTiMINT-3027869.
STRINGi9606.ENSP00000357360.

Structurei

3D structure databases

ProteinModelPortaliQ13505.
SMRiQ13505.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the metaxin family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3028. Eukaryota.
ENOG41100SS. LUCA.
GeneTreeiENSGT00530000063166.
HOGENOMiHOG000237279.
HOVERGENiHBG001655.
InParanoidiQ13505.
KOiK17776.
PhylomeDBiQ13505.
TreeFamiTF313422.

Family and domain databases

InterProiView protein in InterPro
IPR036282. Glutathione-S-Trfase_C_sf.
IPR033468. Metaxin_GST.
IPR019564. Sam37/metaxin_N.
PfamiView protein in Pfam
PF17171. GST_C_6. 1 hit.
PF10568. Tom37. 1 hit.
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)DescriptionActionsGraphical viewLength
Natural variantiVAR_04737663T → S2 PublicationsCorresponds to variant dbSNP:rs760077Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0357411 – 149Missing in isoform 3. 2 PublicationsAdd BLAST149
Alternative sequenceiVSP_035742227 – 257Missing in isoform 2. 1 PublicationAdd BLAST31

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.
UCSCiuc001fjc.4. human. [Q13505-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiMTX1_HUMAN
AccessioniPrimary (citable) accession number: Q13505
Secondary accession number(s): B1AVR9
, B1AVS0, B2R9P4, Q9BUU3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: November 25, 2008
Last modified: October 25, 2017
This is version 144 of the entry and version 2 of the sequence. See 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