MTX2_CAEEL
ID MTX2_CAEEL Reviewed; 230 AA.
AC P34599; E9P839; Q2PWT9; Q8I7F3;
DT 01-FEB-1994, integrated into UniProtKB/Swiss-Prot.
DT 21-MAR-2006, sequence version 3.
DT 03-AUG-2022, entry version 164.
DE RecName: Full=Metaxin-2 homolog;
DE AltName: Full=Mitochondrial outer membrane import complex protein 2;
GN Name=mtx-2; ORFNames=ZC97.1;
OS Caenorhabditis elegans.
OC Eukaryota; Metazoa; Ecdysozoa; Nematoda; Chromadorea; Rhabditida;
OC Rhabditina; Rhabditomorpha; Rhabditoidea; Rhabditidae; Peloderinae;
OC Caenorhabditis.
OX NCBI_TaxID=6239;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM A).
RC STRAIN=Bristol N2; TISSUE=Larva;
RA Adolph K.W.;
RT "A Caenorhabditis elegans metaxin 2 homolog: cDNA and protein structure.";
RL Submitted (NOV-2005) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC STRAIN=Bristol N2;
RX PubMed=7906398; DOI=10.1038/368032a0;
RA Wilson R., Ainscough R., Anderson K., Baynes C., Berks M., Bonfield J.,
RA Burton J., Connell M., Copsey T., Cooper J., Coulson A., Craxton M.,
RA Dear S., Du Z., Durbin R., Favello A., Fraser A., Fulton L., Gardner A.,
RA Green P., Hawkins T., Hillier L., Jier M., Johnston L., Jones M.,
RA Kershaw J., Kirsten J., Laisster N., Latreille P., Lightning J., Lloyd C.,
RA Mortimore B., O'Callaghan M., Parsons J., Percy C., Rifken L., Roopra A.,
RA Saunders D., Shownkeen R., Sims M., Smaldon N., Smith A., Smith M.,
RA Sonnhammer E., Staden R., Sulston J., Thierry-Mieg J., Thomas K.,
RA Vaudin M., Vaughan K., Waterston R., Watson A., Weinstock L.,
RA Wilkinson-Sproat J., Wohldman P.;
RT "2.2 Mb of contiguous nucleotide sequence from chromosome III of C.
RT elegans.";
RL Nature 368:32-38(1994).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND ALTERNATIVE SPLICING.
RC STRAIN=Bristol N2;
RX PubMed=9851916; DOI=10.1126/science.282.5396.2012;
RG The C. elegans sequencing consortium;
RT "Genome sequence of the nematode C. elegans: a platform for investigating
RT biology.";
RL Science 282:2012-2018(1998).
RN [4]
RP DISRUPTION PHENOTYPE.
RX PubMed=32917887; DOI=10.1038/s41467-020-18146-9;
RA Elouej S., Harhouri K., Le Mao M., Baujat G., Nampoothiri S., Kayserili H.,
RA Menabawy N.A., Selim L., Paneque A.L., Kubisch C., Lessel D.,
RA Rubinsztajn R., Charar C., Bartoli C., Airault C., Deleuze J.F., Roetig A.,
RA Bauer P., Pereira C., Loh A., Escande-Beillard N., Muchir A., Martino L.,
RA Gruenbaum Y., Lee S.H., Manivet P., Lenaers G., Reversade B., Levy N.,
RA De Sandre-Giovannoli A.;
RT "Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial
RT dysfunction to altered nuclear morphology.";
RL Nat. Commun. 11:4589-4589(2020).
CC -!- FUNCTION: Involved in transport of proteins into the mitochondrion.
CC {ECO:0000250|UniProtKB:O75431}.
CC -!- SUBUNIT: Associates with the mitochondrial contact site and cristae
CC organizing system (MICOS) complex (also known as MINOS or MitOS
CC complex). {ECO:0000250|UniProtKB:O75431}.
CC -!- SUBCELLULAR LOCATION: Mitochondrion outer membrane {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=a;
CC IsoId=P34599-1; Sequence=Displayed;
CC Name=b;
CC IsoId=P34599-2; Sequence=VSP_017570, VSP_017571;
CC -!- DISRUPTION PHENOTYPE: Knockout animals show abnormal mitochondrial
CC morphology. Mutant worms display developmental delay, with almost none
CC reaching the young adult state. {ECO:0000269|PubMed:32917887}.
CC -!- SIMILARITY: Belongs to the metaxin family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=CCD73970.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
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DR EMBL; DQ298419; ABC33802.1; -; mRNA.
DR EMBL; FO081833; CCD73970.1; ALT_SEQ; Genomic_DNA.
DR EMBL; FO081833; CCD73971.1; -; Genomic_DNA.
DR PIR; S44885; S44885.
DR RefSeq; NP_498689.2; NM_066288.4.
DR RefSeq; NP_871672.2; NM_181943.5. [P34599-2]
DR AlphaFoldDB; P34599; -.
DR SMR; P34599; -.
DR BioGRID; 41295; 5.
DR IntAct; P34599; 5.
DR STRING; 6239.ZC97.1a; -.
DR EPD; P34599; -.
DR PaxDb; P34599; -.
DR PeptideAtlas; P34599; -.
DR EnsemblMetazoa; ZC97.1a.1; ZC97.1a.1; WBGene00022516.
DR EnsemblMetazoa; ZC97.1a.2; ZC97.1a.2; WBGene00022516.
DR EnsemblMetazoa; ZC97.1b.1; ZC97.1b.1; WBGene00022516. [P34599-2]
DR GeneID; 176087; -.
DR KEGG; cel:CELE_ZC97.1; -.
DR CTD; 176087; -.
DR WormBase; ZC97.1a; CE00360; WBGene00022516; mtx-2.
DR WormBase; ZC97.1b; CE45721; WBGene00022516; mtx-2. [P34599-2]
DR eggNOG; KOG3027; Eukaryota.
DR GeneTree; ENSGT00950000182919; -.
DR HOGENOM; CLU_044137_6_0_1; -.
DR InParanoid; P34599; -.
DR OrthoDB; 1219712at2759; -.
DR PhylomeDB; P34599; -.
DR PRO; PR:P34599; -.
DR Proteomes; UP000001940; Chromosome III.
DR Bgee; WBGene00022516; Expressed in embryo and 4 other tissues.
DR GO; GO:0005737; C:cytoplasm; IBA:GO_Central.
DR GO; GO:0005739; C:mitochondrion; HDA:WormBase.
DR GO; GO:0001401; C:SAM complex; IBA:GO_Central.
DR GO; GO:0007005; P:mitochondrion organization; IBA:GO_Central.
DR GO; GO:0015031; P:protein transport; IEA:UniProtKB-KW.
DR InterPro; IPR036282; Glutathione-S-Trfase_C_sf.
DR InterPro; IPR033468; Metaxin_GST.
DR InterPro; IPR019564; Sam37/metaxin_N.
DR Pfam; PF17171; GST_C_6; 1.
DR Pfam; PF10568; Tom37; 1.
DR SUPFAM; SSF47616; SSF47616; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Membrane; Mitochondrion;
KW Mitochondrion outer membrane; Protein transport; Reference proteome;
KW Transport.
FT CHAIN 1..230
FT /note="Metaxin-2 homolog"
FT /id="PRO_0000220997"
FT VAR_SEQ 67..71
FT /note="VDFIS -> ESSHF (in isoform b)"
FT /evidence="ECO:0000305"
FT /id="VSP_017570"
FT VAR_SEQ 72..230
FT /note="Missing (in isoform b)"
FT /evidence="ECO:0000305"
FT /id="VSP_017571"
SQ SEQUENCE 230 AA; 26085 MW; 90A0A57A25A1147B CRC64;
MSSSGVITQL VTDALSMNAA QDWEDVSLFT PYLNDQALMY DFADCLAVQT FLRMTSLPFN
VRQRPNVDFI SPDGVVPLLK INKTLITGFN AIVDFVHKKG VTLTSHLSET QVADMRANIS
MIEHLLTTVE KFVLWNHDET YDKVTKLRYG SVYHWPLSSV LPFVKRRKIL EELSDKDWDT
KTMDEVGEQA DKVFRALSAQ LGSQKYLTGD LPTEADALLF GHMYTLITVR
