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ATP synthase mitochondrial F1 complex assembly factor 2 (ATP12 homolog)

 ATPF2_HUMAN             Reviewed;         289 AA.
Q8N5M1; A6NDE5; A8K2J2; Q6XYC7;
30-AUG-2005, integrated into UniProtKB/Swiss-Prot.
01-OCT-2002, sequence version 1.
05-DEC-2018, entry version 135.
RecName: Full=ATP synthase mitochondrial F1 complex assembly factor 2;
AltName: Full=ATP12 homolog;
Flags: Precursor;
Name=ATPAF2; Synonyms=ATP12; ORFNames=LP3663;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
PubMed=15498874; DOI=10.1073/pnas.0404089101;
Wan D., Gong Y., Qin W., Zhang P., Li J., Wei L., Zhou X., Li H.,
Qiu X., Zhong F., He L., Yu J., Yao G., Jiang H., Qian L., Yu Y.,
Shu H., Chen X., Xu H., Guo M., Pan Z., Chen Y., Ge C., Yang S.,
Gu J.;
"Large-scale cDNA transfection screening for genes related to cancer
development and progression.";
Proc. Natl. Acad. Sci. U.S.A. 101:15724-15729(2004).
[2]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
PubMed=14702039; DOI=10.1038/ng1285;
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
"Complete sequencing and characterization of 21,243 full-length human
cDNAs.";
Nat. Genet. 36:40-45(2004).
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=16625196; DOI=10.1038/nature04689;
Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R.,
Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A.,
Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J.,
Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J.,
DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R.,
Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N.,
Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B.,
Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J.,
Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E.,
Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J.,
Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C.,
Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D.,
Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A.,
Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.;
"DNA sequence of human chromosome 17 and analysis of rearrangement in
the human lineage.";
Nature 440:1045-1049(2006).
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
Venter J.C.;
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
[5]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Muscle, and Ovary;
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[6]
FUNCTION, INTERACTION WITH ATP5F1A, AND TISSUE SPECIFICITY.
PubMed=11410595; DOI=10.1074/jbc.M104133200;
Wang Z.-G., White P.S., Ackerman S.H.;
"Atp11p and Atp12p are assembly factors for the F(1)-ATPase in human
mitochondria.";
J. Biol. Chem. 276:30773-30778(2001).
[7]
IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
PubMed=21269460; DOI=10.1186/1752-0509-5-17;
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P.,
Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.;
"Initial characterization of the human central proteome.";
BMC Syst. Biol. 5:17-17(2011).
[8]
IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
TISSUE=Liver;
PubMed=24275569; DOI=10.1016/j.jprot.2013.11.014;
Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D.,
Wang L., Ye M., Zou H.;
"An enzyme assisted RP-RPLC approach for in-depth analysis of human
liver phosphoproteome.";
J. Proteomics 96:253-262(2014).
[9]
IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
PubMed=25944712; DOI=10.1002/pmic.201400617;
Vaca Jacome A.S., Rabilloud T., Schaeffer-Reiss C., Rompais M.,
Ayoub D., Lane L., Bairoch A., Van Dorsselaer A., Carapito C.;
"N-terminome analysis of the human mitochondrial proteome.";
Proteomics 15:2519-2524(2015).
[10]
INTERACTION WITH FMC1.
PubMed=28719601; DOI=10.1371/journal.pcbi.1005653;
Li Y., Jourdain A.A., Calvo S.E., Liu J.S., Mootha V.K.;
"CLIC, a tool for expanding biological pathways based on co-expression
across thousands of datasets.";
PLoS Comput. Biol. 13:E1005653-E1005653(2017).
[11]
VARIANT MC5DN1 ARG-94.
PubMed=14757859; DOI=10.1136/jmg.2003.012047;
De Meirleir L., Seneca S., Lissens W., De Clercq I., Eyskens F.,
Gerlo E., Smet J., Van Coster R.;
"Respiratory chain complex V deficiency due to a mutation in the
assembly gene ATP12.";
J. Med. Genet. 41:120-124(2004).
-!- FUNCTION: May play a role in the assembly of the F1 component of
the mitochondrial ATP synthase (ATPase).
{ECO:0000269|PubMed:11410595}.
-!- SUBUNIT: Interacts with ATP5F1A (PubMed:11410595). Interacts with
FMC1 (PubMed:28719601). {ECO:0000269|PubMed:11410595,
ECO:0000269|PubMed:28719601}.
-!- INTERACTION:
A0A1B0GVM0:BEGAIN; NbExp=3; IntAct=EBI-1166928, EBI-12702130;
Q8IYR0:CFAP206; NbExp=3; IntAct=EBI-1166928, EBI-749051;
P35638-2:DDIT3; NbExp=3; IntAct=EBI-1166928, EBI-10173632;
Q9UH73:EBF1; NbExp=8; IntAct=EBI-1166928, EBI-765426;
Q01844:EWSR1; NbExp=6; IntAct=EBI-1166928, EBI-739737;
O95073:FSBP; NbExp=3; IntAct=EBI-1166928, EBI-1059030;
O95073-2:FSBP; NbExp=3; IntAct=EBI-1166928, EBI-10696047;
V9HW31:HEL-S-271; NbExp=3; IntAct=EBI-1166928, EBI-10266742;
Q9UKT9:IKZF3; NbExp=9; IntAct=EBI-1166928, EBI-747204;
Q6A162:KRT40; NbExp=7; IntAct=EBI-1166928, EBI-10171697;
Q8TBB1:LNX1; NbExp=8; IntAct=EBI-1166928, EBI-739832;
Q9Y608:LRRFIP2; NbExp=3; IntAct=EBI-1166928, EBI-1023718;
Q9Y608-2:LRRFIP2; NbExp=3; IntAct=EBI-1166928, EBI-12696250;
Q9BRK4:LZTS2; NbExp=6; IntAct=EBI-1166928, EBI-741037;
P43360:MAGEA6; NbExp=8; IntAct=EBI-1166928, EBI-1045155;
Q9P286:PAK5; NbExp=6; IntAct=EBI-1166928, EBI-741896;
Q99569:PKP4; NbExp=3; IntAct=EBI-1166928, EBI-726447;
Q99569-2:PKP4; NbExp=3; IntAct=EBI-1166928, EBI-4324902;
Q9GZV8:PRDM14; NbExp=9; IntAct=EBI-1166928, EBI-3957793;
Q04864:REL; NbExp=3; IntAct=EBI-1166928, EBI-307352;
Q04864-2:REL; NbExp=3; IntAct=EBI-1166928, EBI-10829018;
P49247:RPIA; NbExp=10; IntAct=EBI-1166928, EBI-744831;
O94875:SORBS2; NbExp=3; IntAct=EBI-1166928, EBI-311323;
O94875-10:SORBS2; NbExp=3; IntAct=EBI-1166928, EBI-12037893;
Q9NZD8:SPG21; NbExp=13; IntAct=EBI-1166928, EBI-742688;
Q13625-3:TP53BP2; NbExp=3; IntAct=EBI-1166928, EBI-10175039;
P36406:TRIM23; NbExp=6; IntAct=EBI-1166928, EBI-740098;
P14373:TRIM27; NbExp=6; IntAct=EBI-1166928, EBI-719493;
-!- SUBCELLULAR LOCATION: Mitochondrion {ECO:0000305}.
-!- TISSUE SPECIFICITY: Widely expressed.
{ECO:0000269|PubMed:11410595}.
-!- DISEASE: Mitochondrial complex V deficiency, nuclear type 1
(MC5DN1) [MIM:604273]: A mitochondrial disorder with heterogeneous
clinical manifestations including dysmorphic features, psychomotor
retardation, hypotonia, growth retardation, cardiomyopathy,
enlarged liver, hypoplastic kidneys and elevated lactate levels in
urine, plasma and cerebrospinal fluid.
{ECO:0000269|PubMed:14757859}. Note=The disease is caused by
mutations affecting the gene represented in this entry.
-!- SIMILARITY: Belongs to the ATP12 family. {ECO:0000305}.
-!- SEQUENCE CAUTION:
Sequence=AAP34466.1; Type=Frameshift; Positions=87; Evidence={ECO:0000305};
-----------------------------------------------------------------------
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EMBL; AY203943; AAP34466.1; ALT_FRAME; mRNA.
EMBL; AK290257; BAF82946.1; -; mRNA.
EMBL; AC087163; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; CH471196; EAW55680.1; -; Genomic_DNA.
EMBL; BC004114; AAH04114.1; -; mRNA.
EMBL; BC032126; AAH32126.1; -; mRNA.
CCDS; CCDS32585.1; -.
RefSeq; NP_663729.1; NM_145691.3.
UniGene; Hs.528889; -.
ProteinModelPortal; Q8N5M1; -.
SMR; Q8N5M1; -.
BioGrid; 124858; 38.
IntAct; Q8N5M1; 79.
MINT; Q8N5M1; -.
STRING; 9606.ENSP00000417190; -.
iPTMnet; Q8N5M1; -.
PhosphoSitePlus; Q8N5M1; -.
BioMuta; ATPAF2; -.
DMDM; 73917623; -.
EPD; Q8N5M1; -.
MaxQB; Q8N5M1; -.
PaxDb; Q8N5M1; -.
PeptideAtlas; Q8N5M1; -.
PRIDE; Q8N5M1; -.
ProteomicsDB; 72074; -.
DNASU; 91647; -.
Ensembl; ENST00000474627; ENSP00000417190; ENSG00000171953.
GeneID; 91647; -.
KEGG; hsa:91647; -.
UCSC; uc002gse.2; human.
CTD; 91647; -.
DisGeNET; 91647; -.
EuPathDB; HostDB:ENSG00000171953.15; -.
GeneCards; ATPAF2; -.
HGNC; HGNC:18802; ATPAF2.
HPA; HPA023329; -.
HPA; HPA059422; -.
MalaCards; ATPAF2; -.
MIM; 604273; phenotype.
MIM; 608918; gene.
neXtProt; NX_Q8N5M1; -.
OpenTargets; ENSG00000171953; -.
Orphanet; 254913; Isolated ATP synthase deficiency.
PharmGKB; PA38686; -.
eggNOG; KOG3015; Eukaryota.
eggNOG; COG5387; LUCA.
GeneTree; ENSGT00390000009492; -.
HOGENOM; HOG000139577; -.
HOVERGEN; HBG063751; -.
InParanoid; Q8N5M1; -.
KO; K07556; -.
OMA; AHLDEDW; -.
OrthoDB; EOG091G0GQO; -.
PhylomeDB; Q8N5M1; -.
TreeFam; TF315138; -.
ChiTaRS; ATPAF2; human.
GeneWiki; ATPAF2; -.
GenomeRNAi; 91647; -.
PRO; PR:Q8N5M1; -.
Proteomes; UP000005640; Chromosome 17.
Bgee; ENSG00000171953; Expressed in 183 organ(s), highest expression level in left testis.
CleanEx; HS_ATPAF2; -.
ExpressionAtlas; Q8N5M1; baseline and differential.
Genevisible; Q8N5M1; HS.
GO; GO:0005829; C:cytosol; IDA:HPA.
GO; GO:0005739; C:mitochondrion; IEA:UniProtKB-SubCell.
GO; GO:0016607; C:nuclear speck; IDA:LIFEdb.
GO; GO:0043461; P:proton-transporting ATP synthase complex assembly; NAS:UniProtKB.
Gene3D; 1.10.3580.10; -; 1.
InterPro; IPR011419; ATP12_ATP_synth-F1-assembly.
InterPro; IPR023335; ATP12_ortho_dom_sf.
PANTHER; PTHR21013; PTHR21013; 1.
Pfam; PF07542; ATP12; 1.
1: Evidence at protein level;
Chaperone; Complete proteome; Disease mutation; Mitochondrion;
Primary mitochondrial disease; Reference proteome; Transit peptide.
TRANSIT 1 40 Mitochondrion. {ECO:0000255}.
CHAIN 41 289 ATP synthase mitochondrial F1 complex
assembly factor 2.
/FTId=PRO_0000002418.
MOD_RES 133 133 N6-succinyllysine.
{ECO:0000250|UniProtKB:Q91YY4}.
VARIANT 94 94 W -> R (in MC5DN1; dbSNP:rs104894554).
{ECO:0000269|PubMed:14757859}.
/FTId=VAR_023386.
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


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