M17L2_HUMAN
ID M17L2_HUMAN Reviewed; 206 AA.
AC Q567V2; Q96P34; Q96QA0; Q9BSG4;
DT 05-FEB-2008, integrated into UniProtKB/Swiss-Prot.
DT 05-FEB-2008, sequence version 2.
DT 03-AUG-2022, entry version 124.
DE RecName: Full=Mpv17-like protein 2;
GN Name=MPV17L2; Synonyms=FKSG24;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RA Wang Y.-G., Gong L.;
RT "Characterization of FKSG24, a novel gene located on human chromosome 19.";
RL Submitted (NOV-2000) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), AND VARIANT VAL-72.
RC TISSUE=Brain;
RA Kang L., Zhang B., Zhou Y., Peng X., Yuan J., Qiang B.;
RL Submitted (SEP-2001) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
RC TISSUE=Placenta, and Skin;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [4]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T.,
RA Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
RN [5]
RP FUNCTION, SUBCELLULAR LOCATION, AND INTERACTION WITH THE LARGE
RP MITOCHONDRIAL RIBOSOMAL SUBUNIT.
RX PubMed=24948607; DOI=10.1093/nar/gku513;
RA Dalla Rosa I., Durigon R., Pearce S.F., Rorbach J., Hirst E.M., Vidoni S.,
RA Reyes A., Brea-Calvo G., Minczuk M., Woellhaf M.W., Herrmann J.M.,
RA Huynen M.A., Holt I.J., Spinazzola A.;
RT "MPV17L2 is required for ribosome assembly in mitochondria.";
RL Nucleic Acids Res. 42:8500-8515(2014).
RN [6]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=25944712; DOI=10.1002/pmic.201400617;
RA Vaca Jacome A.S., Rabilloud T., Schaeffer-Reiss C., Rompais M., Ayoub D.,
RA Lane L., Bairoch A., Van Dorsselaer A., Carapito C.;
RT "N-terminome analysis of the human mitochondrial proteome.";
RL Proteomics 15:2519-2524(2015).
CC -!- FUNCTION: Required for the assembly and stability of the mitochondrial
CC ribosome (PubMed:24948607). Is a positive regulator of mitochondrial
CC protein synthesis (PubMed:24948607). {ECO:0000269|PubMed:24948607}.
CC -!- SUBUNIT: Interacts with the large mitochondrial ribosomal subunit.
CC {ECO:0000269|PubMed:24948607}.
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane
CC protein {ECO:0000305}. Mitochondrion inner membrane
CC {ECO:0000269|PubMed:24948607}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q567V2-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q567V2-2; Sequence=VSP_031102;
CC -!- SIMILARITY: Belongs to the peroxisomal membrane protein PXMP2/4 family.
CC {ECO:0000305}.
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DR EMBL; AF416712; AAL16806.1; -; mRNA.
DR EMBL; AF320622; AAL30173.1; -; mRNA.
DR EMBL; BC005064; AAH05064.1; -; mRNA.
DR EMBL; BC093008; AAH93008.1; -; mRNA.
DR CCDS; CCDS42522.1; -. [Q567V2-1]
DR RefSeq; NP_116072.2; NM_032683.2. [Q567V2-1]
DR AlphaFoldDB; Q567V2; -.
DR BioGRID; 124249; 6.
DR IntAct; Q567V2; 5.
DR MINT; Q567V2; -.
DR STRING; 9606.ENSP00000469836; -.
DR iPTMnet; Q567V2; -.
DR PhosphoSitePlus; Q567V2; -.
DR SwissPalm; Q567V2; -.
DR BioMuta; MPV17L2; -.
DR EPD; Q567V2; -.
DR jPOST; Q567V2; -.
DR MassIVE; Q567V2; -.
DR MaxQB; Q567V2; -.
DR PaxDb; Q567V2; -.
DR PeptideAtlas; Q567V2; -.
DR PRIDE; Q567V2; -.
DR ProteomicsDB; 62567; -. [Q567V2-1]
DR ProteomicsDB; 62568; -. [Q567V2-2]
DR Antibodypedia; 51731; 34 antibodies from 16 providers.
DR DNASU; 84769; -.
DR Ensembl; ENST00000599612.3; ENSP00000469836.2; ENSG00000254858.10. [Q567V2-1]
DR GeneID; 84769; -.
DR KEGG; hsa:84769; -.
DR MANE-Select; ENST00000599612.3; ENSP00000469836.2; NM_032683.3; NP_116072.2.
DR UCSC; uc002nid.4; human. [Q567V2-1]
DR CTD; 84769; -.
DR DisGeNET; 84769; -.
DR GeneCards; MPV17L2; -.
DR HGNC; HGNC:28177; MPV17L2.
DR HPA; ENSG00000254858; Low tissue specificity.
DR MIM; 616133; gene.
DR neXtProt; NX_Q567V2; -.
DR OpenTargets; ENSG00000254858; -.
DR PharmGKB; PA164723095; -.
DR VEuPathDB; HostDB:ENSG00000254858; -.
DR eggNOG; KOG1944; Eukaryota.
DR GeneTree; ENSGT00940000160620; -.
DR HOGENOM; CLU_049109_4_1_1; -.
DR InParanoid; Q567V2; -.
DR OMA; FMPLAYR; -.
DR PhylomeDB; Q567V2; -.
DR TreeFam; TF324392; -.
DR PathwayCommons; Q567V2; -.
DR SignaLink; Q567V2; -.
DR BioGRID-ORCS; 84769; 70 hits in 1092 CRISPR screens.
DR ChiTaRS; MPV17L2; human.
DR GenomeRNAi; 84769; -.
DR Pharos; Q567V2; Tbio.
DR PRO; PR:Q567V2; -.
DR Proteomes; UP000005640; Chromosome 19.
DR RNAct; Q567V2; protein.
DR Bgee; ENSG00000254858; Expressed in right adrenal gland cortex and 104 other tissues.
DR ExpressionAtlas; Q567V2; baseline and differential.
DR Genevisible; Q567V2; HS.
DR GO; GO:0005737; C:cytoplasm; IBA:GO_Central.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0005743; C:mitochondrial inner membrane; IDA:UniProtKB.
DR GO; GO:0005762; C:mitochondrial large ribosomal subunit; IDA:UniProtKB.
DR GO; GO:0005739; C:mitochondrion; IBA:GO_Central.
DR GO; GO:0061668; P:mitochondrial ribosome assembly; IMP:UniProtKB.
DR GO; GO:0070131; P:positive regulation of mitochondrial translation; IMP:UniProtKB.
DR InterPro; IPR007248; Mpv17_PMP22.
DR PANTHER; PTHR11266; PTHR11266; 1.
DR Pfam; PF04117; Mpv17_PMP22; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Membrane; Mitochondrion;
KW Mitochondrion inner membrane; Reference proteome; Transmembrane;
KW Transmembrane helix.
FT CHAIN 1..206
FT /note="Mpv17-like protein 2"
FT /id="PRO_0000317621"
FT TRANSMEM 20..42
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 63..83
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 102..122
FT /note="Helical"
FT /evidence="ECO:0000255"
FT VAR_SEQ 117..141
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334, ECO:0000303|Ref.2"
FT /id="VSP_031102"
FT VARIANT 72
FT /note="M -> V (in dbSNP:rs874628)"
FT /evidence="ECO:0000269|Ref.2"
FT /id="VAR_058299"
FT CONFLICT 140
FT /note="F -> S (in Ref. 1; AAL30173)"
FT /evidence="ECO:0000305"
FT CONFLICT 201
FT /note="L -> P (in Ref. 3; AAH93008)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 206 AA; 23180 MW; 8FB2E03429ED6734 CRC64;
MARGGWRRLR RLLSAGQLLF QGRALLVTNT LGCGALMAAG DGVRQSWEIR ARPGQVFDPR
RSASMFAVGC SMGPFLHYWY LSLDRLFPAS GLRGFPNVLK KVLVDQLVAS PLLGVWYFLG
LGCLEGQTVG ESCQELREKF WEFYKADWCV WPAAQFVNFL FVPPQFRVTY INGLTLGWDT
YLSYLKYRSP VPLTPPGCVA LDTRAD
