Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Metaxin-1

Gene

MTX1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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
MIMi600605 gene
neXtProtiNX_Q13505

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
ProteomicsDBi59499
59500 [Q13505-2]
59501 [Q13505-3]
TopDownProteomicsiQ13505-1 [Q13505-1]
Q13505-3 [Q13505-3]

PTM databases

iPTMnetiQ13505
PhosphoSitePlusiQ13505

Expressioni

Gene expression databases

BgeeiENSG00000173171 Expressed in 93 organ(s), highest expression level in right testis
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, 10 interactors
MINTiQ13505
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

eggNOGiKOG3028 Eukaryota
ENOG41100SS LUCA
GeneTreeiENSGT00530000063166
HOGENOMiHOG000237279
HOVERGENiHBG001655
InParanoidiQ13505
KOiK17776
OMAiHMERLQL
OrthoDBiEOG091G0CWZ
PhylomeDBiQ13505
TreeFamiTF313422

Family and domain databases

InterProiView protein in InterPro
IPR036282 Glutathione-S-Trfase_C_sf
IPR040079 Glutathione_S-Trfase
IPR033468 Metaxin_GST
IPR019564 Sam37/metaxin_N
PfamiView protein in Pfam
PF17171 GST_C_6, 1 hit
PF10568 Tom37, 1 hit
SFLDiSFLDS00019 Glutathione_Transferase_(cytos, 1 hit
SUPFAMiSSF47616 SSF47616, 1 hit

Sequences (3+)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

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 RDSPRRAGPT 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):51,463
Last modified:March 28, 2018 - v3
Checksum:i2F98ABCA860F50E2
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):47,995
Checksum:i0368571C5ADD463A
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

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A0C4DFQ1A0A0C4DFQ1_HUMAN
Metaxin-1
MTX1
435Annotation score:
H0Y6Y5H0Y6Y5_HUMAN
Metaxin-1
MTX1
120Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04737663S → T. Corresponds 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
AC234582 Genomic DNA No translation available.
CH471121 Genomic DNA Translation: EAW53106.1
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 [Q13505-1]
NP_942584.2, NM_198883.3 [Q13505-2]
UniGeneiHs.490874

Genome annotation databases

EnsembliENST00000316721; ENSP00000317106; ENSG00000173171 [Q13505-2]
ENST00000368376; ENSP00000357360; ENSG00000173171 [Q13505-1]
ENST00000609421; ENSP00000476632; ENSG00000173171 [Q13505-3]
GeneIDi4580
KEGGihsa:4580
UCSCiuc001fjb.4 human
uc001fjc.4 human [Q13505-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

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
AC234582 Genomic DNA No translation available.
CH471121 Genomic DNA Translation: EAW53106.1
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 [Q13505-1]
NP_942584.2, NM_198883.3 [Q13505-2]
UniGeneiHs.490874

3D structure databases

ProteinModelPortaliQ13505
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110667, 36 interactors
CORUMiQ13505
IntActiQ13505, 10 interactors
MINTiQ13505
STRINGi9606.ENSP00000357360

PTM databases

iPTMnetiQ13505
PhosphoSitePlusiQ13505

Polymorphism and mutation databases

BioMutaiMTX1
DMDMi215274027

Proteomic databases

EPDiQ13505
MaxQBiQ13505
PaxDbiQ13505
PeptideAtlasiQ13505
PRIDEiQ13505
ProteomicsDBi59499
59500 [Q13505-2]
59501 [Q13505-3]
TopDownProteomicsiQ13505-1 [Q13505-1]
Q13505-3 [Q13505-3]

Protocols and materials databases

DNASUi4580
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000316721; ENSP00000317106; ENSG00000173171 [Q13505-2]
ENST00000368376; ENSP00000357360; ENSG00000173171 [Q13505-1]
ENST00000609421; ENSP00000476632; ENSG00000173171 [Q13505-3]
GeneIDi4580
KEGGihsa:4580
UCSCiuc001fjb.4 human
uc001fjc.4 human [Q13505-1]

Organism-specific databases

CTDi4580
DisGeNETi4580
EuPathDBiHostDB:ENSG00000173171.14
GeneCardsiMTX1
H-InvDBiHIX0001121
HGNCiHGNC:7504 MTX1
HPAiHPA011543
MIMi600605 gene
neXtProtiNX_Q13505
OpenTargetsiENSG00000173171
PharmGKBiPA31306
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3028 Eukaryota
ENOG41100SS LUCA
GeneTreeiENSGT00530000063166
HOGENOMiHOG000237279
HOVERGENiHBG001655
InParanoidiQ13505
KOiK17776
OMAiHMERLQL
OrthoDBiEOG091G0CWZ
PhylomeDBiQ13505
TreeFamiTF313422

Enzyme and pathway databases

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

Miscellaneous databases

GeneWikiiMTX1
GenomeRNAii4580
PROiPR:Q13505
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000173171 Expressed in 93 organ(s), highest expression level in right testis
CleanExiHS_MTX1
ExpressionAtlasiQ13505 baseline and differential
GenevisibleiQ13505 HS

Family and domain databases

InterProiView protein in InterPro
IPR036282 Glutathione-S-Trfase_C_sf
IPR040079 Glutathione_S-Trfase
IPR033468 Metaxin_GST
IPR019564 Sam37/metaxin_N
PfamiView protein in Pfam
PF17171 GST_C_6, 1 hit
PF10568 Tom37, 1 hit
SFLDiSFLDS00019 Glutathione_Transferase_(cytos, 1 hit
SUPFAMiSSF47616 SSF47616, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiMTX1_HUMAN
AccessioniPrimary (citable) accession number: Q13505
Secondary accession number(s): A0A0A0MRK6
, B1AVR9, B1AVS0, B2R9P4, Q9BUU3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: March 28, 2018
Last modified: November 7, 2018
This is version 154 of the entry and version 3 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. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again