ATPF1_HUMAN
ID ATPF1_HUMAN Reviewed; 328 AA.
AC Q5TC12; B1AQW7; B7Z7D6; B7Z7I6; Q9H6E3;
DT 18-MAR-2008, integrated into UniProtKB/Swiss-Prot.
DT 05-FEB-2008, sequence version 1.
DT 03-AUG-2022, entry version 105.
DE RecName: Full=ATP synthase mitochondrial F1 complex assembly factor 1;
DE AltName: Full=ATP11 homolog;
DE Flags: Precursor;
GN Name=ATPAF1; Synonyms=ATP11;
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] (ISOFORMS 1; 2 AND 3), AND VARIANT
RP GLY-62.
RC TISSUE=Testis;
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=16710414; DOI=10.1038/nature04727;
RA Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A.,
RA Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C.,
RA Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.,
RA Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C.,
RA Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W.,
RA Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J.,
RA Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J.,
RA Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y.,
RA Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J.,
RA Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
RA Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
RA Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
RA Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S.,
RA Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K.,
RA Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R.,
RA Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M.,
RA Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S.,
RA Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J.,
RA Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W.,
RA McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
RA Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
RA Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
RA Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
RA Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S.,
RA Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M.,
RA White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H.,
RA Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E.,
RA Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G.,
RA Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.;
RT "The DNA sequence and biological annotation of human chromosome 1.";
RL Nature 441:315-321(2006).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT GLY-62.
RC TISSUE=Blood, Brain, 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 PARTIAL NUCLEOTIDE SEQUENCE [MRNA], AND INTERACTION WITH ATP5F1B.
RC TISSUE=Fetal liver;
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 [5]
RP TISSUE SPECIFICITY.
RX PubMed=12965202; DOI=10.1016/s0014-5793(03)00890-1;
RA Pickova A., Paul J., Petruzzella V., Houstek J.;
RT "Differential expression of ATPAF1 and ATPAF2 genes encoding F(1)-ATPase
RT assembly proteins in mouse tissues.";
RL FEBS Lett. 551:42-46(2003).
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).
CC -!- FUNCTION: May play an essential role for the assembly of the
CC mitochondrial F1-F0 complex. {ECO:0000250}.
CC -!- SUBUNIT: Interacts with ATP5F1B. {ECO:0000269|PubMed:11410595}.
CC -!- SUBCELLULAR LOCATION: Mitochondrion {ECO:0000250}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q5TC12-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q5TC12-2; Sequence=VSP_045437;
CC Name=3;
CC IsoId=Q5TC12-3; Sequence=VSP_045438;
CC -!- TISSUE SPECIFICITY: Weakly expressed in muscle.
CC {ECO:0000269|PubMed:12965202}.
CC -!- SIMILARITY: Belongs to the ATP11 family. {ECO:0000305}.
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DR EMBL; AK026004; BAB15316.1; -; mRNA.
DR EMBL; AK301874; BAH13572.1; -; mRNA.
DR EMBL; AK302090; BAH13622.1; -; mRNA.
DR EMBL; AL136373; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL593856; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC008498; AAH08498.1; -; mRNA.
DR EMBL; BC018781; AAH18781.1; -; mRNA.
DR EMBL; BC071731; AAH71731.1; -; mRNA.
DR CCDS; CCDS57997.1; -. [Q5TC12-2]
DR CCDS; CCDS57998.1; -. [Q5TC12-3]
DR RefSeq; NP_001036011.2; NM_001042546.2.
DR RefSeq; NP_001230657.1; NM_001243728.1. [Q5TC12-3]
DR RefSeq; NP_001243347.1; NM_001256418.1. [Q5TC12-2]
DR RefSeq; NP_073582.3; NM_022745.4.
DR AlphaFoldDB; Q5TC12; -.
DR SMR; Q5TC12; -.
DR BioGRID; 122270; 117.
DR IntAct; Q5TC12; 27.
DR MINT; Q5TC12; -.
DR STRING; 9606.ENSP00000460964; -.
DR GlyGen; Q5TC12; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q5TC12; -.
DR PhosphoSitePlus; Q5TC12; -.
DR BioMuta; ATPAF1; -.
DR DMDM; 170652901; -.
DR EPD; Q5TC12; -.
DR jPOST; Q5TC12; -.
DR MassIVE; Q5TC12; -.
DR MaxQB; Q5TC12; -.
DR PaxDb; Q5TC12; -.
DR PeptideAtlas; Q5TC12; -.
DR PRIDE; Q5TC12; -.
DR ProteomicsDB; 64936; -. [Q5TC12-1]
DR ProteomicsDB; 6856; -.
DR ProteomicsDB; 6874; -.
DR Antibodypedia; 32819; 93 antibodies from 19 providers.
DR DNASU; 64756; -.
DR Ensembl; ENST00000532925.5; ENSP00000435732.1; ENSG00000123472.12. [Q5TC12-3]
DR Ensembl; ENST00000542495.5; ENSP00000443588.1; ENSG00000123472.12. [Q5TC12-2]
DR Ensembl; ENST00000574428.5; ENSP00000459167.2; ENSG00000123472.12. [Q5TC12-1]
DR GeneID; 64756; -.
DR KEGG; hsa:64756; -.
DR MANE-Select; ENST00000574428.6; ENSP00000459167.2; NM_001394565.1; NP_001381494.1.
DR UCSC; uc009vyk.4; human. [Q5TC12-1]
DR CTD; 64756; -.
DR DisGeNET; 64756; -.
DR GeneCards; ATPAF1; -.
DR HGNC; HGNC:18803; ATPAF1.
DR HPA; ENSG00000123472; Tissue enhanced (tongue).
DR MalaCards; ATPAF1; -.
DR MIM; 608917; gene.
DR neXtProt; NX_Q5TC12; -.
DR OpenTargets; ENSG00000123472; -.
DR Orphanet; 254913; Isolated ATP synthase deficiency.
DR PharmGKB; PA38687; -.
DR VEuPathDB; HostDB:ENSG00000123472; -.
DR eggNOG; KOG3281; Eukaryota.
DR GeneTree; ENSGT00390000012765; -.
DR HOGENOM; CLU_1485271_0_0_1; -.
DR InParanoid; Q5TC12; -.
DR OrthoDB; 1108259at2759; -.
DR PhylomeDB; Q5TC12; -.
DR TreeFam; TF325166; -.
DR BioCyc; MetaCyc:ENSG00000123472-MON; -.
DR PathwayCommons; Q5TC12; -.
DR SignaLink; Q5TC12; -.
DR BioGRID-ORCS; 64756; 20 hits in 1082 CRISPR screens.
DR ChiTaRS; ATPAF1; human.
DR GeneWiki; ATPAF1; -.
DR GenomeRNAi; 64756; -.
DR Pharos; Q5TC12; Tbio.
DR PRO; PR:Q5TC12; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; Q5TC12; protein.
DR Bgee; ENSG00000123472; Expressed in left ventricle myocardium and 186 other tissues.
DR ExpressionAtlas; Q5TC12; baseline and differential.
DR Genevisible; Q5TC12; HS.
DR GO; GO:0005739; C:mitochondrion; IBA:GO_Central.
DR GO; GO:0033615; P:mitochondrial proton-transporting ATP synthase complex assembly; IBA:GO_Central.
DR InterPro; IPR010591; ATP11.
DR PANTHER; PTHR13126; PTHR13126; 1.
DR Pfam; PF06644; ATP11; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Mitochondrion; Reference proteome; Transit peptide.
FT TRANSIT 1..57
FT /note="Mitochondrion"
FT /evidence="ECO:0000255"
FT CHAIN 58..328
FT /note="ATP synthase mitochondrial F1 complex assembly
FT factor 1"
FT /id="PRO_0000318915"
FT VAR_SEQ 1..151
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_045437"
FT VAR_SEQ 1..89
FT /note="MAAVVVAAAGGAGPAVLQVAGLYRGLCAVRSRALGLGLVSPAQLRVFPVRPG
FT SGRPEGGADSSGVGAEAELQANPFYDRYRDKIQLLRR -> M (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_045438"
FT VARIANT 62
FT /note="S -> G (in dbSNP:rs11211337)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334"
FT /id="VAR_038906"
SQ SEQUENCE 328 AA; 36437 MW; A8981BC21AADE3AA CRC64;
MAAVVVAAAG GAGPAVLQVA GLYRGLCAVR SRALGLGLVS PAQLRVFPVR PGSGRPEGGA
DSSGVGAEAE LQANPFYDRY RDKIQLLRRS DPAAFESRLE KRSEFRKQPV GHSRQGDFIK
CVEQKTDALG KQSVNRGFTK DKTLSSIFNI EMVKEKTAEE IKQIWQQYFA AKDTVYAVIP
AEKFDLIWNR AQSCPTFLCA LPRREGYEFF VGQWTGTELH FTALINIQTR GEAAASQLIL
YHYPELKEEK GIVLMTAEMD STFLNVAEAQ CIANQVQLFY ATDRKETYGL VETFNLRPNE
FKYMSVIAEL EQSGLGAELK CAQNQNKT
