ID   MIC13_HUMAN             Reviewed;         118 AA.
AC   Q5XKP0; A0A0B4J2A5; K7EKR0; Q86YE5;
DT   12-JUN-2007, integrated into UniProtKB/Swiss-Prot.
DT   23-NOV-2004, sequence version 1.
DT   03-AUG-2022, entry version 130.
DE   RecName: Full=MICOS complex subunit MIC13 {ECO:0000305};
DE   AltName: Full=Protein P117 {ECO:0000303|Ref.1};
GN   Name=MICOS13 {ECO:0000312|HGNC:HGNC:33702};
GN   Synonyms=C19orf70, MIC13 {ECO:0000303|PubMed:25997101},
GN   QIL1 {ECO:0000303|PubMed:25997101};
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 [GENOMIC DNA].
RA   Takenaka A., Kawamoto S., Varavudhi P., Kawamoto Y., Suzuki J.,
RA   Eakavibatha C., Terao K., Nakamura S., Hirai H., Takenaka O.;
RT   "A novel retroposon P117 in the intergenic region of alpha-globin genes in
RT   macaques.";
RL   Submitted (MAR-2004) to the EMBL/GenBank/DDBJ databases.
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=15057824; DOI=10.1038/nature02399;
RA   Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E.,
RA   Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A.,
RA   Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S.,
RA   Carrano A.V., Caoile C., Chan Y.M., Christensen M., Cleland C.A.,
RA   Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J.,
RA   Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M.,
RA   Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W.,
RA   Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V.,
RA   Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D.,
RA   McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I.,
RA   Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L.,
RA   Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A.,
RA   She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M.,
RA   Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J.,
RA   Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E.,
RA   Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M.,
RA   Rubin E.M., Lucas S.M.;
RT   "The DNA sequence and biology of human chromosome 19.";
RL   Nature 428:529-535(2004).
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA   Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA   Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA   Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA   Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA   Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA   Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA   Hunkapiller M.W., Myers E.W., Venter J.C.;
RL   Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN   [4]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC   TISSUE=Brain, and Pancreas;
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   [5]
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   [6]
RP   FUNCTION, SUBCELLULAR LOCATION, IDENTIFICATION BY MASS SPECTROMETRY, AND
RP   IDENTIFICATION IN THE MICOS COMPLEX.
RX   PubMed=25997101; DOI=10.7554/elife.06265;
RA   Guarani V., McNeill E.M., Paulo J.A., Huttlin E.L., Froehlich F.,
RA   Gygi S.P., Van Vactor D., Harper J.W.;
RT   "QIL1 is a novel mitochondrial protein required for MICOS complex stability
RT   and cristae morphology.";
RL   Elife 4:0-0(2015).
RN   [7]
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).
RN   [8]
RP   FUNCTION, AND INVOLVEMENT IN COXPD37.
RX   PubMed=27623147; DOI=10.7554/elife.17163;
RA   Guarani V., Jardel C., Chretien D., Lombes A., Benit P., Labasse C.,
RA   Lacene E., Bourillon A., Imbard A., Benoist J.F., Dorboz I., Gilleron M.,
RA   Goetzman E.S., Gaignard P., Slama A., Elmaleh-Berges M., Romero N.B.,
RA   Rustin P., Ogier de Baulny H., Paulo J.A., Harper J.W., Schiff M.;
RT   "QIL1 mutation causes MICOS disassembly and early onset fatal mitochondrial
RT   encephalopathy with liver disease.";
RL   Elife 5:0-0(2016).
RN   [9]
RP   INVOLVEMENT IN COXPD37.
RX   PubMed=27485409; DOI=10.1038/ejhg.2016.83;
RA   Zeharia A., Friedman J.R., Tobar A., Saada A., Konen O., Fellig Y.,
RA   Shaag A., Nunnari J., Elpeleg O.;
RT   "Mitochondrial hepato-encephalopathy due to deficiency of QIL1/MIC13
RT   (C19orf70), a MICOS complex subunit.";
RL   Eur. J. Hum. Genet. 24:1778-1782(2016).
RN   [10]
RP   INVOLVEMENT IN COXPD37.
RX   PubMed=29618761; DOI=10.1038/s10038-018-0442-y;
RA   Goediker J., Grueneberg M., DuChesne I., Reunert J., Rust S.,
RA   Westermann C., Wada Y., Classen G., Langhans C.D., Schlingmann K.P.,
RA   Rodenburg R.J., Pohlmann R., Marquardt T.;
RT   "QIL1-dependent assembly of MICOS complex-lethal mutation in C19ORF70
RT   resulting in liver disease and severe neurological retardation.";
RL   J. Hum. Genet. 63:707-716(2018).
CC   -!- FUNCTION: Component of the MICOS complex, a large protein complex of
CC       the mitochondrial inner membrane that plays crucial roles in the
CC       maintenance of crista junctions, inner membrane architecture, and
CC       formation of contact sites to the outer membrane. Constituent of mature
CC       MICOS complex, it is required for the formation of cristae junction
CC       (CJ) and maintenance of cristae morphology. Required for the
CC       incorporation of MICOS10/MIC10 into the MICOS complex.
CC       {ECO:0000269|PubMed:25997101, ECO:0000269|PubMed:27623147}.
CC   -!- SUBUNIT: Component of the mitochondrial contact site and cristae
CC       organizing system (MICOS) complex, composed of at least MICOS10/MIC10,
CC       CHCHD3/MIC19, CHCHD6/MIC25, APOO/MIC26, MICOS13/MIC13, APOOL/MIC27 and
CC       IMMT/MIC60. The MICOS complex associates with mitochondrial outer
CC       membrane proteins SAMM50, MTX1 and MTX2 (together described as
CC       components of the mitochondrial outer membrane sorting assembly
CC       machinery (SAM) complex) and DNAJC11, mitochondrial inner membrane
CC       protein TMEM11 and with HSPA9. The MICOS and SAM complexes together
CC       with DNAJC11 are part of a large protein complex spanning both
CC       membranes termed the mitochondrial intermembrane space bridging (MIB)
CC       complex. {ECO:0000269|PubMed:25997101}.
CC   -!- INTERACTION:
CC       Q5XKP0; Q96CM8: ACSF2; NbExp=3; IntAct=EBI-1053887, EBI-2876502;
CC       Q5XKP0; P02654: APOC1; NbExp=3; IntAct=EBI-1053887, EBI-1220105;
CC       Q5XKP0; P55056: APOC4; NbExp=3; IntAct=EBI-1053887, EBI-18302142;
CC       Q5XKP0; Q9NR28: DIABLO; NbExp=3; IntAct=EBI-1053887, EBI-517508;
CC       Q5XKP0; Q9UBD0: HSFX2; NbExp=3; IntAct=EBI-1053887, EBI-947253;
CC       Q5XKP0; Q96AL5: PBX3; NbExp=3; IntAct=EBI-1053887, EBI-741171;
CC       Q5XKP0; Q6NTF9-3: RHBDD2; NbExp=3; IntAct=EBI-1053887, EBI-17589229;
CC       Q5XKP0; Q53QW1: TEX44; NbExp=3; IntAct=EBI-1053887, EBI-10278496;
CC   -!- SUBCELLULAR LOCATION: Mitochondrion inner membrane
CC       {ECO:0000269|PubMed:25997101}; Single-pass membrane protein
CC       {ECO:0000255}. Note=Enriched at crista junctions.
CC       {ECO:0000269|PubMed:25997101}.
CC   -!- DISEASE: Combined oxidative phosphorylation deficiency 37 (COXPD37)
CC       [MIM:618329]: An autosomal recessive disorder due to mitochondrial
CC       dysfunction and characterized by hypotonia, failure to thrive,
CC       progressive neurodegeneration with neurologic deterioration after the
CC       first months of life, global developmental delay, as well as liver
CC       dysfunction. Some patients may have hypertrophic cardiomyopathy, loss
CC       of vision and hearing, and/or seizures. Death in first months or years
CC       of life is observed in most patients. {ECO:0000269|PubMed:27485409,
CC       ECO:0000269|PubMed:27623147, ECO:0000269|PubMed:29618761}. Note=The
CC       disease is caused by variants affecting the gene represented in this
CC       entry.
CC   -!- SIMILARITY: Belongs to the MICOS complex subunit Mic13 family.
CC       {ECO:0000305}.
CC   -!- SEQUENCE CAUTION:
CC       Sequence=AC011499; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
CC       Sequence=EAW69159.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
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DR   EMBL; AB167391; BAE80091.1; -; Genomic_DNA.
DR   EMBL; AC011499; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; CH471139; EAW69159.1; ALT_SEQ; Genomic_DNA.
DR   EMBL; BC009557; AAH09557.1; -; mRNA.
DR   EMBL; BC042386; AAH42386.1; -; mRNA.
DR   CCDS; CCDS12143.1; -.
DR   RefSeq; NP_001295169.1; NM_001308240.1.
DR   RefSeq; NP_991330.1; NM_205767.2.
DR   RefSeq; XP_016881737.1; XM_017026248.1.
DR   AlphaFoldDB; Q5XKP0; -.
DR   BioGRID; 125943; 84.
DR   ComplexPortal; CPX-6141; MICOS mitochondrial contact site and cristae organizing system complex.
DR   CORUM; Q5XKP0; -.
DR   IntAct; Q5XKP0; 40.
DR   MINT; Q5XKP0; -.
DR   STRING; 9606.ENSP00000309561; -.
DR   GlyGen; Q5XKP0; 1 site, 1 O-linked glycan (1 site).
DR   iPTMnet; Q5XKP0; -.
DR   PhosphoSitePlus; Q5XKP0; -.
DR   SwissPalm; Q5XKP0; -.
DR   BioMuta; C19orf70; -.
DR   EPD; Q5XKP0; -.
DR   jPOST; Q5XKP0; -.
DR   MassIVE; Q5XKP0; -.
DR   MaxQB; Q5XKP0; -.
DR   PaxDb; Q5XKP0; -.
DR   PeptideAtlas; Q5XKP0; -.
DR   PRIDE; Q5XKP0; -.
DR   ProteomicsDB; 65832; -.
DR   TopDownProteomics; Q5XKP0; -.
DR   Antibodypedia; 49612; 27 antibodies from 13 providers.
DR   DNASU; 125988; -.
DR   Ensembl; ENST00000309324.9; ENSP00000309561.3; ENSG00000174917.9.
DR   GeneID; 125988; -.
DR   KEGG; hsa:125988; -.
DR   MANE-Select; ENST00000309324.9; ENSP00000309561.3; NM_205767.3; NP_991330.1.
DR   UCSC; uc002mch.2; human.
DR   UCSC; uc060sbv.1; human.
DR   CTD; 125988; -.
DR   DisGeNET; 125988; -.
DR   GeneCards; MICOS13; -.
DR   HGNC; HGNC:33702; MICOS13.
DR   HPA; ENSG00000174917; Low tissue specificity.
DR   MalaCards; MICOS13; -.
DR   MIM; 616658; gene.
DR   MIM; 618329; phenotype.
DR   neXtProt; NX_Q5XKP0; -.
DR   OpenTargets; ENSG00000174917; -.
DR   Orphanet; 67047; 3-methylglutaconic aciduria type 3.
DR   PharmGKB; PA162378863; -.
DR   VEuPathDB; HostDB:ENSG00000174917; -.
DR   eggNOG; ENOG502S4BC; Eukaryota.
DR   GeneTree; ENSGT00390000002629; -.
DR   HOGENOM; CLU_152642_0_1_1; -.
DR   InParanoid; Q5XKP0; -.
DR   OMA; GIIKVMS; -.
DR   OrthoDB; 1599526at2759; -.
DR   PhylomeDB; Q5XKP0; -.
DR   TreeFam; TF343386; -.
DR   PathwayCommons; Q5XKP0; -.
DR   Reactome; R-HSA-8949613; Cristae formation.
DR   SignaLink; Q5XKP0; -.
DR   BioGRID-ORCS; 125988; 94 hits in 1069 CRISPR screens.
DR   ChiTaRS; C19orf70; human.
DR   GenomeRNAi; 125988; -.
DR   Pharos; Q5XKP0; Tbio.
DR   PRO; PR:Q5XKP0; -.
DR   Proteomes; UP000005640; Chromosome 19.
DR   RNAct; Q5XKP0; protein.
DR   Bgee; ENSG00000174917; Expressed in apex of heart and 179 other tissues.
DR   ExpressionAtlas; Q5XKP0; baseline and differential.
DR   Genevisible; Q5XKP0; HS.
DR   GO; GO:0140275; C:MIB complex; HDA:UniProtKB.
DR   GO; GO:0061617; C:MICOS complex; IDA:UniProtKB.
DR   GO; GO:0044284; C:mitochondrial crista junction; IDA:UniProtKB.
DR   GO; GO:0005743; C:mitochondrial inner membrane; IDA:UniProtKB.
DR   GO; GO:0005739; C:mitochondrion; IDA:HPA.
DR   GO; GO:0005654; C:nucleoplasm; IDA:HPA.
DR   GO; GO:0001401; C:SAM complex; HDA:UniProtKB.
DR   GO; GO:0042407; P:cristae formation; IMP:UniProtKB.
DR   GO; GO:0007007; P:inner mitochondrial membrane organization; IC:UniProtKB.
DR   InterPro; IPR026769; Mic13.
DR   PANTHER; PTHR31816; PTHR31816; 1.
DR   Pfam; PF15884; QIL1; 1.
PE   1: Evidence at protein level;
KW   Membrane; Mitochondrion; Mitochondrion inner membrane;
KW   Primary mitochondrial disease; Reference proteome; Transmembrane;
KW   Transmembrane helix.
FT   CHAIN           1..118
FT                   /note="MICOS complex subunit MIC13"
FT                   /id="PRO_0000289985"
FT   TRANSMEM        8..26
FT                   /note="Helical"
FT                   /evidence="ECO:0000255"
FT   CONFLICT        20
FT                   /note="G -> V (in Ref. 4; AAH42386)"
FT                   /evidence="ECO:0000305"
SQ   SEQUENCE   118 AA;  13087 MW;  3E85936D77715415 CRC64;
     MVARVWSLMR FLIKGSVAGG AVYLVYDQEL LGPSDKSQAA LQKAGEVVPP AMYQFSQYVC
     QQTGLQIPQL PAPPKIYFPI RDSWNAGIMT VMSALSVAPS KAREYSKEGW EYVKARTK