ATPF2_HUMAN
ID ATPF2_HUMAN Reviewed; 289 AA.
AC Q8N5M1; A6NDE5; A8K2J2; Q6XYC7;
DT 30-AUG-2005, integrated into UniProtKB/Swiss-Prot.
DT 01-OCT-2002, sequence version 1.
DT 03-AUG-2022, entry version 155.
DE RecName: Full=ATP synthase mitochondrial F1 complex assembly factor 2;
DE AltName: Full=ATP12 homolog;
DE Flags: Precursor;
GN Name=ATPAF2; Synonyms=ATP12; ORFNames=LP3663;
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].
RX PubMed=15498874; DOI=10.1073/pnas.0404089101;
RA Wan D., Gong Y., Qin W., Zhang P., Li J., Wei L., Zhou X., Li H., Qiu X.,
RA Zhong F., He L., Yu J., Yao G., Jiang H., Qian L., Yu Y., Shu H., Chen X.,
RA Xu H., Guo M., Pan Z., Chen Y., Ge C., Yang S., Gu J.;
RT "Large-scale cDNA transfection screening for genes related to cancer
RT development and progression.";
RL Proc. Natl. Acad. Sci. U.S.A. 101:15724-15729(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16625196; DOI=10.1038/nature04689;
RA Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R.,
RA Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A.,
RA Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J.,
RA Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J.,
RA DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S.,
RA Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E.,
RA Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K.,
RA LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J.,
RA Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A.,
RA Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K.,
RA Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D.,
RA Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A.,
RA Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.;
RT "DNA sequence of human chromosome 17 and analysis of rearrangement in the
RT human lineage.";
RL Nature 440:1045-1049(2006).
RN [4]
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 [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Muscle, and Ovary;
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 [6]
RP FUNCTION, INTERACTION WITH ATP5F1A, AND TISSUE SPECIFICITY.
RX PubMed=11410595; DOI=10.1074/jbc.m104133200;
RA Wang Z.-G., White P.S., Ackerman S.H.;
RT "Atp11p and Atp12p are assembly factors for the F(1)-ATPase in human
RT mitochondria.";
RL J. Biol. Chem. 276:30773-30778(2001).
RN [7]
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 [8]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Liver;
RX PubMed=24275569; DOI=10.1016/j.jprot.2013.11.014;
RA Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L.,
RA Ye M., Zou H.;
RT "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver
RT phosphoproteome.";
RL J. Proteomics 96:253-262(2014).
RN [9]
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 [10]
RP INTERACTION WITH FMC1.
RX PubMed=28719601; DOI=10.1371/journal.pcbi.1005653;
RA Li Y., Jourdain A.A., Calvo S.E., Liu J.S., Mootha V.K.;
RT "CLIC, a tool for expanding biological pathways based on co-expression
RT across thousands of datasets.";
RL PLoS Comput. Biol. 13:E1005653-E1005653(2017).
RN [11]
RP VARIANT MC5DN1 ARG-94.
RX PubMed=14757859; DOI=10.1136/jmg.2003.012047;
RA De Meirleir L., Seneca S., Lissens W., De Clercq I., Eyskens F., Gerlo E.,
RA Smet J., Van Coster R.;
RT "Respiratory chain complex V deficiency due to a mutation in the assembly
RT gene ATP12.";
RL J. Med. Genet. 41:120-124(2004).
CC -!- FUNCTION: May play a role in the assembly of the F1 component of the
CC mitochondrial ATP synthase (ATPase). {ECO:0000269|PubMed:11410595}.
CC -!- SUBUNIT: Interacts with ATP5F1A (PubMed:11410595). Interacts with FMC1
CC (PubMed:28719601). {ECO:0000269|PubMed:11410595,
CC ECO:0000269|PubMed:28719601}.
CC -!- INTERACTION:
CC Q8N5M1; Q9ULX6: AKAP8L; NbExp=3; IntAct=EBI-1166928, EBI-357530;
CC Q8N5M1; P25705: ATP5F1A; NbExp=4; IntAct=EBI-1166928, EBI-351437;
CC Q8N5M1; P06576: ATP5F1B; NbExp=7; IntAct=EBI-1166928, EBI-356231;
CC Q8N5M1; A0A1B0GVM0: BEGAIN; NbExp=3; IntAct=EBI-1166928, EBI-12702130;
CC Q8N5M1; Q9BUH8: BEGAIN; NbExp=5; IntAct=EBI-1166928, EBI-742722;
CC Q8N5M1; Q9H5F2: C11orf1; NbExp=3; IntAct=EBI-1166928, EBI-718615;
CC Q8N5M1; Q9UNH5: CDC14A; NbExp=3; IntAct=EBI-1166928, EBI-7851002;
CC Q8N5M1; O14519: CDK2AP1; NbExp=3; IntAct=EBI-1166928, EBI-1052532;
CC Q8N5M1; Q86XR8-3: CEP57; NbExp=3; IntAct=EBI-1166928, EBI-11752486;
CC Q8N5M1; Q8IYR0: CFAP206; NbExp=3; IntAct=EBI-1166928, EBI-749051;
CC Q8N5M1; Q53ET0: CRTC2; NbExp=3; IntAct=EBI-1166928, EBI-1181987;
CC Q8N5M1; O43310-2: CTIF; NbExp=3; IntAct=EBI-1166928, EBI-12180013;
CC Q8N5M1; A8MQ03: CYSRT1; NbExp=3; IntAct=EBI-1166928, EBI-3867333;
CC Q8N5M1; P35638-2: DDIT3; NbExp=3; IntAct=EBI-1166928, EBI-10173632;
CC Q8N5M1; Q9Y2H0-1: DLGAP4; NbExp=3; IntAct=EBI-1166928, EBI-12000556;
CC Q8N5M1; Q9UH73: EBF1; NbExp=10; IntAct=EBI-1166928, EBI-765426;
CC Q8N5M1; Q9H4W6-2: EBF3; NbExp=3; IntAct=EBI-1166928, EBI-17233744;
CC Q8N5M1; Q04637-9: EIF4G1; NbExp=3; IntAct=EBI-1166928, EBI-12012124;
CC Q8N5M1; Q01844: EWSR1; NbExp=7; IntAct=EBI-1166928, EBI-739737;
CC Q8N5M1; A8MTA8-2: FAM166B; NbExp=3; IntAct=EBI-1166928, EBI-12160437;
CC Q8N5M1; O94868-3: FCHSD2; NbExp=3; IntAct=EBI-1166928, EBI-11958845;
CC Q8N5M1; P49356: FNTB; NbExp=3; IntAct=EBI-1166928, EBI-602349;
CC Q8N5M1; O95073: FSBP; NbExp=3; IntAct=EBI-1166928, EBI-1059030;
CC Q8N5M1; O95073-2: FSBP; NbExp=3; IntAct=EBI-1166928, EBI-10696047;
CC Q8N5M1; A6NEM1: GOLGA6L9; NbExp=3; IntAct=EBI-1166928, EBI-5916454;
CC Q8N5M1; V9HW31: HEL-S-271; NbExp=3; IntAct=EBI-1166928, EBI-10266742;
CC Q8N5M1; Q9UKT9: IKZF3; NbExp=10; IntAct=EBI-1166928, EBI-747204;
CC Q8N5M1; Q0VD86: INCA1; NbExp=3; IntAct=EBI-1166928, EBI-6509505;
CC Q8N5M1; O76011: KRT34; NbExp=3; IntAct=EBI-1166928, EBI-1047093;
CC Q8N5M1; Q6A162: KRT40; NbExp=7; IntAct=EBI-1166928, EBI-10171697;
CC Q8N5M1; Q3LI72: KRTAP19-5; NbExp=3; IntAct=EBI-1166928, EBI-1048945;
CC Q8N5M1; Q3LI70: KRTAP19-6; NbExp=3; IntAct=EBI-1166928, EBI-12805508;
CC Q8N5M1; Q3SYF9: KRTAP19-7; NbExp=3; IntAct=EBI-1166928, EBI-10241353;
CC Q8N5M1; Q3LI66: KRTAP6-2; NbExp=3; IntAct=EBI-1166928, EBI-11962084;
CC Q8N5M1; Q3B8N2: LGALS9B; NbExp=3; IntAct=EBI-1166928, EBI-10240775;
CC Q8N5M1; Q8TBB1: LNX1; NbExp=11; IntAct=EBI-1166928, EBI-739832;
CC Q8N5M1; Q9Y608: LRRFIP2; NbExp=4; IntAct=EBI-1166928, EBI-1023718;
CC Q8N5M1; Q9Y608-2: LRRFIP2; NbExp=3; IntAct=EBI-1166928, EBI-12696250;
CC Q8N5M1; Q8IV03: LURAP1L; NbExp=3; IntAct=EBI-1166928, EBI-12898559;
CC Q8N5M1; Q9BRK4: LZTS2; NbExp=6; IntAct=EBI-1166928, EBI-741037;
CC Q8N5M1; P43360: MAGEA6; NbExp=9; IntAct=EBI-1166928, EBI-1045155;
CC Q8N5M1; Q5VYS4: MEDAG; NbExp=3; IntAct=EBI-1166928, EBI-1050881;
CC Q8N5M1; A9UHW6-2: MIF4GD; NbExp=3; IntAct=EBI-1166928, EBI-9118295;
CC Q8N5M1; O00746: NME4; NbExp=3; IntAct=EBI-1166928, EBI-744871;
CC Q8N5M1; Q9P286: PAK5; NbExp=7; IntAct=EBI-1166928, EBI-741896;
CC Q8N5M1; Q99569: PKP4; NbExp=4; IntAct=EBI-1166928, EBI-726447;
CC Q8N5M1; Q99569-2: PKP4; NbExp=3; IntAct=EBI-1166928, EBI-4324902;
CC Q8N5M1; Q9H1A7: POLR2J3; NbExp=3; IntAct=EBI-1166928, EBI-12818681;
CC Q8N5M1; Q9H1D9: POLR3F; NbExp=3; IntAct=EBI-1166928, EBI-710067;
CC Q8N5M1; Q9Y535: POLR3H; NbExp=3; IntAct=EBI-1166928, EBI-2515065;
CC Q8N5M1; Q96T49: PPP1R16B; NbExp=3; IntAct=EBI-1166928, EBI-10293968;
CC Q8N5M1; Q7Z5V6-2: PPP1R32; NbExp=5; IntAct=EBI-1166928, EBI-12000762;
CC Q8N5M1; Q9GZV8: PRDM14; NbExp=10; IntAct=EBI-1166928, EBI-3957793;
CC Q8N5M1; Q9NQX0: PRDM6; NbExp=3; IntAct=EBI-1166928, EBI-11320284;
CC Q8N5M1; Q5RL73: RBM48; NbExp=3; IntAct=EBI-1166928, EBI-473821;
CC Q8N5M1; Q15293: RCN1; NbExp=3; IntAct=EBI-1166928, EBI-948278;
CC Q8N5M1; Q04864: REL; NbExp=3; IntAct=EBI-1166928, EBI-307352;
CC Q8N5M1; Q04864-2: REL; NbExp=3; IntAct=EBI-1166928, EBI-10829018;
CC Q8N5M1; Q9UNE2: RPH3AL; NbExp=3; IntAct=EBI-1166928, EBI-2855824;
CC Q8N5M1; P49247: RPIA; NbExp=12; IntAct=EBI-1166928, EBI-744831;
CC Q8N5M1; O94875: SORBS2; NbExp=3; IntAct=EBI-1166928, EBI-311323;
CC Q8N5M1; O94875-10: SORBS2; NbExp=3; IntAct=EBI-1166928, EBI-12037893;
CC Q8N5M1; Q9H0A9-2: SPATC1L; NbExp=3; IntAct=EBI-1166928, EBI-11995806;
CC Q8N5M1; Q9NZD8: SPG21; NbExp=18; IntAct=EBI-1166928, EBI-742688;
CC Q8N5M1; Q9BT92: TCHP; NbExp=3; IntAct=EBI-1166928, EBI-740781;
CC Q8N5M1; Q9UBB9: TFIP11; NbExp=3; IntAct=EBI-1166928, EBI-1105213;
CC Q8N5M1; Q13625-3: TP53BP2; NbExp=3; IntAct=EBI-1166928, EBI-10175039;
CC Q8N5M1; P36406: TRIM23; NbExp=7; IntAct=EBI-1166928, EBI-740098;
CC Q8N5M1; P14373: TRIM27; NbExp=6; IntAct=EBI-1166928, EBI-719493;
CC Q8N5M1; Q5T6F2: UBAP2; NbExp=3; IntAct=EBI-1166928, EBI-2514383;
CC Q8N5M1; Q2TAL6: VWC2; NbExp=3; IntAct=EBI-1166928, EBI-11957238;
CC Q8N5M1; Q8TF47: ZFP90; NbExp=3; IntAct=EBI-1166928, EBI-11419867;
CC Q8N5M1; P17023: ZNF19; NbExp=3; IntAct=EBI-1166928, EBI-12884200;
CC Q8N5M1; P17027: ZNF23; NbExp=3; IntAct=EBI-1166928, EBI-5657766;
CC Q8N5M1; P13682: ZNF35; NbExp=3; IntAct=EBI-1166928, EBI-11041653;
CC Q8N5M1; Q9BUY5: ZNF426; NbExp=3; IntAct=EBI-1166928, EBI-743265;
CC Q8N5M1; Q8N720: ZNF655; NbExp=3; IntAct=EBI-1166928, EBI-625509;
CC -!- SUBCELLULAR LOCATION: Mitochondrion {ECO:0000305}.
CC -!- TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:11410595}.
CC -!- DISEASE: Mitochondrial complex V deficiency, nuclear type 1 (MC5DN1)
CC [MIM:604273]: A mitochondrial disorder with heterogeneous clinical
CC manifestations including dysmorphic features, psychomotor retardation,
CC hypotonia, growth retardation, cardiomyopathy, enlarged liver,
CC hypoplastic kidneys and elevated lactate levels in urine, plasma and
CC cerebrospinal fluid. {ECO:0000269|PubMed:14757859}. Note=The disease is
CC caused by variants affecting the gene represented in this entry.
CC -!- SIMILARITY: Belongs to the ATP12 family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAP34466.1; Type=Frameshift; Evidence={ECO:0000305};
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DR EMBL; AY203943; AAP34466.1; ALT_FRAME; mRNA.
DR EMBL; AK290257; BAF82946.1; -; mRNA.
DR EMBL; AC087163; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471196; EAW55680.1; -; Genomic_DNA.
DR EMBL; BC004114; AAH04114.1; -; mRNA.
DR EMBL; BC032126; AAH32126.1; -; mRNA.
DR CCDS; CCDS32585.1; -.
DR RefSeq; NP_663729.1; NM_145691.3.
DR AlphaFoldDB; Q8N5M1; -.
DR SMR; Q8N5M1; -.
DR BioGRID; 124858; 114.
DR IntAct; Q8N5M1; 90.
DR MINT; Q8N5M1; -.
DR STRING; 9606.ENSP00000417190; -.
DR iPTMnet; Q8N5M1; -.
DR PhosphoSitePlus; Q8N5M1; -.
DR BioMuta; ATPAF2; -.
DR DMDM; 73917623; -.
DR EPD; Q8N5M1; -.
DR jPOST; Q8N5M1; -.
DR MassIVE; Q8N5M1; -.
DR MaxQB; Q8N5M1; -.
DR PaxDb; Q8N5M1; -.
DR PeptideAtlas; Q8N5M1; -.
DR PRIDE; Q8N5M1; -.
DR ProteomicsDB; 72074; -.
DR Antibodypedia; 13429; 140 antibodies from 24 providers.
DR DNASU; 91647; -.
DR Ensembl; ENST00000474627.8; ENSP00000417190.2; ENSG00000171953.16.
DR GeneID; 91647; -.
DR KEGG; hsa:91647; -.
DR MANE-Select; ENST00000474627.8; ENSP00000417190.2; NM_145691.4; NP_663729.1.
DR UCSC; uc002gse.2; human.
DR CTD; 91647; -.
DR DisGeNET; 91647; -.
DR GeneCards; ATPAF2; -.
DR HGNC; HGNC:18802; ATPAF2.
DR HPA; ENSG00000171953; Low tissue specificity.
DR MalaCards; ATPAF2; -.
DR MIM; 604273; phenotype.
DR MIM; 608918; gene.
DR neXtProt; NX_Q8N5M1; -.
DR OpenTargets; ENSG00000171953; -.
DR Orphanet; 254913; Isolated ATP synthase deficiency.
DR PharmGKB; PA38686; -.
DR VEuPathDB; HostDB:ENSG00000171953; -.
DR eggNOG; KOG3015; Eukaryota.
DR GeneTree; ENSGT00390000009492; -.
DR HOGENOM; CLU_047893_2_0_1; -.
DR InParanoid; Q8N5M1; -.
DR OMA; DTVLFQY; -.
DR OrthoDB; 734341at2759; -.
DR PhylomeDB; Q8N5M1; -.
DR TreeFam; TF315138; -.
DR BioCyc; MetaCyc:ENSG00000171953-MON; -.
DR PathwayCommons; Q8N5M1; -.
DR SignaLink; Q8N5M1; -.
DR BioGRID-ORCS; 91647; 85 hits in 1082 CRISPR screens.
DR ChiTaRS; ATPAF2; human.
DR GeneWiki; ATPAF2; -.
DR GenomeRNAi; 91647; -.
DR Pharos; Q8N5M1; Tbio.
DR PRO; PR:Q8N5M1; -.
DR Proteomes; UP000005640; Chromosome 17.
DR RNAct; Q8N5M1; protein.
DR Bgee; ENSG00000171953; Expressed in right testis and 148 other tissues.
DR ExpressionAtlas; Q8N5M1; baseline and differential.
DR Genevisible; Q8N5M1; HS.
DR GO; GO:0005829; C:cytosol; IDA:HPA.
DR GO; GO:0005739; C:mitochondrion; IBA:GO_Central.
DR GO; GO:0016607; C:nuclear speck; IDA:LIFEdb.
DR GO; GO:0033615; P:mitochondrial proton-transporting ATP synthase complex assembly; IBA:GO_Central.
DR GO; GO:0043461; P:proton-transporting ATP synthase complex assembly; NAS:UniProtKB.
DR Gene3D; 1.10.3580.10; -; 1.
DR Gene3D; 3.30.2180.10; -; 1.
DR InterPro; IPR011419; ATP12_ATP_synth-F1-assembly.
DR InterPro; IPR042272; ATP12_ATP_synth-F1-assembly_N.
DR InterPro; IPR023335; ATP12_ortho_dom_sf.
DR PANTHER; PTHR21013; PTHR21013; 1.
DR Pfam; PF07542; ATP12; 1.
PE 1: Evidence at protein level;
KW Chaperone; Disease variant; Mitochondrion; Primary mitochondrial disease;
KW Reference proteome; Transit peptide.
FT TRANSIT 1..40
FT /note="Mitochondrion"
FT /evidence="ECO:0000255"
FT CHAIN 41..289
FT /note="ATP synthase mitochondrial F1 complex assembly
FT factor 2"
FT /id="PRO_0000002418"
FT REGION 13..40
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 133
FT /note="N6-succinyllysine"
FT /evidence="ECO:0000250|UniProtKB:Q91YY4"
FT VARIANT 94
FT /note="W -> R (in MC5DN1; dbSNP:rs104894554)"
FT /evidence="ECO:0000269|PubMed:14757859"
FT /id="VAR_023386"
SQ SEQUENCE 289 AA; 32772 MW; E2D0CAB59BDAE6CD CRC64;
MWRSCLRLRD GGRRLLNRPA GGPSASMSPG PTIPSPARAY APPTERKRFY QNVSITQGEG
GFEINLDHRK LKTPQAKLFT VPSEALAIAV ATEWDSQQDT IKYYTMHLTT LCNTSLDNPT
QRNKDQLIRA AVKFLDTDTI CYRVEEPETL VELQRNEWDP IIEWAEKRYG VEISSSTSIM
GPSIPAKTRE VLVSHLASYN TWALQGIEFV AAQLKSMVLT LGLIDLRLTV EQAVLLSRLE
EEYQIQKWGN IEWAHDYELQ ELRARTAAGT LFIHLCSEST TVKHKLLKE
