MAIP1_HUMAN
ID MAIP1_HUMAN Reviewed; 291 AA.
AC Q8WWC4; Q658V9; Q9H671;
DT 11-SEP-2007, integrated into UniProtKB/Swiss-Prot.
DT 01-MAR-2002, sequence version 1.
DT 03-AUG-2022, entry version 142.
DE RecName: Full=m-AAA protease-interacting protein 1, mitochondrial {ECO:0000303|PubMed:27642048};
DE AltName: Full=Matrix AAA peptidase-interacting protein 1 {ECO:0000312|HGNC:HGNC:26198};
DE Flags: Precursor;
GN Name=MAIP1 {ECO:0000303|PubMed:27642048, ECO:0000312|HGNC:HGNC:26198};
GN Synonyms=C2orf47;
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 [LARGE SCALE MRNA].
RC TISSUE=Small intestine;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15815621; DOI=10.1038/nature03466;
RA Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P.,
RA Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C.,
RA Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L.,
RA Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A.,
RA Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J.,
RA Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M.,
RA Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T.,
RA Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S.,
RA Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
RA McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
RA Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S.,
RA Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C.,
RA Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M.,
RA Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C.,
RA Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J.,
RA Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X.,
RA Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M.,
RA Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
RA Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
RA Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H.,
RA Wilson R.K.;
RT "Generation and annotation of the DNA sequences of human chromosomes 2 and
RT 4.";
RL Nature 434:724-731(2005).
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 (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Kidney;
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 NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 121-291.
RC TISSUE=Stomach;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [6]
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 [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 INTERACTION WITH AFG3L2 AND SPG7.
RX PubMed=27499296; DOI=10.1016/j.molcel.2016.06.033;
RA Floyd B.J., Wilkerson E.M., Veling M.T., Minogue C.E., Xia C., Beebe E.T.,
RA Wrobel R.L., Cho H., Kremer L.S., Alston C.L., Gromek K.A., Dolan B.K.,
RA Ulbrich A., Stefely J.A., Bohl S.L., Werner K.M., Jochem A.,
RA Westphall M.S., Rensvold J.W., Taylor R.W., Prokisch H., Kim J.J.,
RA Coon J.J., Pagliarini D.J.;
RT "Mitochondrial protein interaction mapping identifies regulators of
RT respiratory chain function.";
RL Mol. Cell 63:621-632(2016).
RN [9]
RP FUNCTION, SUBCELLULAR LOCATION, AND INTERACTION WITH AFG3L2 AND SMDT1.
RX PubMed=27642048; DOI=10.1016/j.molcel.2016.08.020;
RA Koenig T., Troeder S.E., Bakka K., Korwitz A., Richter-Dennerlein R.,
RA Lampe P.A., Patron M., Muehlmeister M., Guerrero-Castillo S., Brandt U.,
RA Decker T., Lauria I., Paggio A., Rizzuto R., Rugarli E.I., De Stefani D.,
RA Langer T.;
RT "The m-AAA protease associated with neurodegeneration limits MCU activity
RT in mitochondria.";
RL Mol. Cell 64:148-162(2016).
CC -!- FUNCTION: Promotes sorting of SMDT1/EMRE in mitochondria by ensuring
CC its maturation (PubMed:27642048). Interacts with the transit peptide
CC region of SMDT1/EMRE precursor protein in the mitochondrial matrix,
CC leading to protect it against protein degradation by YME1L1, thereby
CC ensuring SMDT1/EMRE maturation by the mitochondrial processing
CC peptidase (PMPCA and PMPCB) (PubMed:27642048).
CC {ECO:0000269|PubMed:27642048}.
CC -!- SUBUNIT: Interacts with AFG3L2 (PubMed:27499296, PubMed:27642048).
CC Interacts with SPG7 (PubMed:27499296). Interacts with SMDT1/EMRE (via
CC the N-terminal transit peptide); interaction is direct and takes place
CC before maturation of SMDT1/EMRE (PubMed:27642048).
CC {ECO:0000269|PubMed:27499296, ECO:0000269|PubMed:27642048}.
CC -!- INTERACTION:
CC Q8WWC4; P02654: APOC1; NbExp=3; IntAct=EBI-1042937, EBI-1220105;
CC Q8WWC4; P55056: APOC4; NbExp=3; IntAct=EBI-1042937, EBI-18302142;
CC Q8WWC4; Q99525: H4C7; NbExp=3; IntAct=EBI-1042937, EBI-10294329;
CC -!- SUBCELLULAR LOCATION: Mitochondrion matrix
CC {ECO:0000269|PubMed:27642048}.
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; AK026208; BAB15393.1; -; mRNA.
DR EMBL; AC097717; AAY24163.1; -; Genomic_DNA.
DR EMBL; CH471063; EAW70195.1; -; Genomic_DNA.
DR EMBL; BC017959; AAH17959.1; -; mRNA.
DR EMBL; AL832964; CAH56348.1; -; mRNA.
DR CCDS; CCDS2329.1; -.
DR RefSeq; NP_078796.2; NM_024520.2.
DR AlphaFoldDB; Q8WWC4; -.
DR BioGRID; 122716; 85.
DR IntAct; Q8WWC4; 90.
DR MINT; Q8WWC4; -.
DR STRING; 9606.ENSP00000295079; -.
DR iPTMnet; Q8WWC4; -.
DR PhosphoSitePlus; Q8WWC4; -.
DR BioMuta; MAIP1; -.
DR DMDM; 74730963; -.
DR EPD; Q8WWC4; -.
DR jPOST; Q8WWC4; -.
DR MassIVE; Q8WWC4; -.
DR MaxQB; Q8WWC4; -.
DR PaxDb; Q8WWC4; -.
DR PeptideAtlas; Q8WWC4; -.
DR PRIDE; Q8WWC4; -.
DR ProteomicsDB; 74877; -.
DR TopDownProteomics; Q8WWC4; -.
DR Antibodypedia; 34082; 116 antibodies from 20 providers.
DR DNASU; 79568; -.
DR Ensembl; ENST00000295079.6; ENSP00000295079.2; ENSG00000162972.11.
DR Ensembl; ENST00000392290.6; ENSP00000376111.1; ENSG00000162972.11.
DR GeneID; 79568; -.
DR KEGG; hsa:79568; -.
DR MANE-Select; ENST00000392290.6; ENSP00000376111.1; NM_001394955.1; NP_001381884.1.
DR UCSC; uc002uvm.4; human.
DR CTD; 79568; -.
DR DisGeNET; 79568; -.
DR GeneCards; MAIP1; -.
DR HGNC; HGNC:26198; MAIP1.
DR HPA; ENSG00000162972; Low tissue specificity.
DR MIM; 617267; gene.
DR neXtProt; NX_Q8WWC4; -.
DR OpenTargets; ENSG00000162972; -.
DR PharmGKB; PA162379149; -.
DR VEuPathDB; HostDB:ENSG00000162972; -.
DR eggNOG; ENOG502QR8E; Eukaryota.
DR GeneTree; ENSGT00390000004145; -.
DR HOGENOM; CLU_083348_0_0_1; -.
DR InParanoid; Q8WWC4; -.
DR OMA; TAIYEFQ; -.
DR OrthoDB; 1056493at2759; -.
DR PhylomeDB; Q8WWC4; -.
DR TreeFam; TF323801; -.
DR PathwayCommons; Q8WWC4; -.
DR Reactome; R-HSA-8949664; Processing of SMDT1.
DR SignaLink; Q8WWC4; -.
DR BioGRID-ORCS; 79568; 15 hits in 1061 CRISPR screens.
DR GenomeRNAi; 79568; -.
DR Pharos; Q8WWC4; Tdark.
DR PRO; PR:Q8WWC4; -.
DR Proteomes; UP000005640; Chromosome 2.
DR RNAct; Q8WWC4; protein.
DR Bgee; ENSG00000162972; Expressed in jejunal mucosa and 209 other tissues.
DR ExpressionAtlas; Q8WWC4; baseline and differential.
DR Genevisible; Q8WWC4; HS.
DR GO; GO:0005743; C:mitochondrial inner membrane; IBA:GO_Central.
DR GO; GO:0005759; C:mitochondrial matrix; IDA:UniProtKB.
DR GO; GO:0043022; F:ribosome binding; IBA:GO_Central.
DR GO; GO:0036444; P:calcium import into the mitochondrion; IMP:UniProtKB.
DR GO; GO:0007007; P:inner mitochondrial membrane organization; IBA:GO_Central.
DR GO; GO:0051560; P:mitochondrial calcium ion homeostasis; IMP:UniProtKB.
DR GO; GO:0032979; P:protein insertion into mitochondrial inner membrane from matrix; IBA:GO_Central.
DR GO; GO:0051204; P:protein insertion into mitochondrial membrane; IMP:UniProtKB.
PE 1: Evidence at protein level;
KW Mitochondrion; Reference proteome; Transit peptide.
FT TRANSIT 1..96
FT /note="Mitochondrion"
FT /evidence="ECO:0000255"
FT CHAIN 97..291
FT /note="m-AAA protease-interacting protein 1, mitochondrial"
FT /id="PRO_0000301945"
FT VARIANT 290
FT /note="L -> I (in dbSNP:rs2118548)"
FT /id="VAR_034911"
FT CONFLICT 208
FT /note="D -> G (in Ref. 1; BAB15393)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 291 AA; 32545 MW; 97D958B2AC9C1163 CRC64;
MALAARLLPQ FLHSRSLPCG AVRLRTPAVA EVRLPSATLC YFCRCRLGLG AALFPRSARA
LAASALPAQG SRWPVLSSPG LPAAFASFPA CPQRSYSTEE KPQQHQKTKM IVLGFSNPIN
WVRTRIKAFL IWAYFDKEFS ITEFSEGAKQ AFAHVSKLLS QCKFDLLEEL VAKEVLHALK
EKVTSLPDNH KNALAANIDE IVFTSTGDIS IYYDEKGRKF VNILMCFWYL TSANIPSETL
RGASVFQVKL GNQNVETKQL LSASYEFQRE FTQGVKPDWT IARIEHSKLL E
