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Protein

ATP synthase mitochondrial F1 complex assembly factor 2

Gene

ATPAF2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

May play a role in the assembly of the F1 component of the mitochondrial ATP synthase (ATPase).1 Publication

GO - Biological processi

  • proton-transporting ATP synthase complex assembly Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Chaperone

Names & Taxonomyi

Protein namesi
Recommended name:
ATP synthase mitochondrial F1 complex assembly factor 2
Alternative name(s):
ATP12 homolog
Gene namesi
Name:ATPAF2
Synonyms:ATP12
ORF Names:LP3663
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

HGNCiHGNC:18802. ATPAF2.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Involvement in diseasei

Mitochondrial complex V deficiency, nuclear 1 (MC5DN1)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:604273
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti94 – 941W → R in MC5DN1. 1 Publication
Corresponds to variant rs104894554 [ dbSNP | Ensembl ].
VAR_023386

Keywords - Diseasei

Disease mutation

Organism-specific databases

MalaCardsiATPAF2.
MIMi604273. phenotype.
Orphaneti254913. Isolated ATP synthase deficiency.
PharmGKBiPA38686.

Polymorphism and mutation databases

BioMutaiATPAF2.
DMDMi73917623.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transit peptidei1 – 4040MitochondrionSequence analysisAdd
BLAST
Chaini41 – 289249ATP synthase mitochondrial F1 complex assembly factor 2PRO_0000002418Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei133 – 1331N6-succinyllysineBy similarity

Proteomic databases

EPDiQ8N5M1.
MaxQBiQ8N5M1.
PaxDbiQ8N5M1.
PeptideAtlasiQ8N5M1.
PRIDEiQ8N5M1.

PTM databases

iPTMnetiQ8N5M1.
PhosphoSiteiQ8N5M1.

Expressioni

Tissue specificityi

Widely expressed.1 Publication

Gene expression databases

BgeeiQ8N5M1.
CleanExiHS_ATPAF2.
ExpressionAtlasiQ8N5M1. baseline and differential.
GenevisibleiQ8N5M1. HS.

Organism-specific databases

HPAiHPA023329.
HPA059422.

Interactioni

Subunit structurei

Interacts with ATP5A1.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
DDIT3P35638-23EBI-1166928,EBI-10173632
EBF1Q9UH733EBI-1166928,EBI-765426
EWSR1Q018443EBI-1166928,EBI-739737
FSBPO950733EBI-1166928,EBI-1059030
HEL-S-271V9HW313EBI-1166928,EBI-10266742
IKZF3Q9UKT94EBI-1166928,EBI-747204
KRT40Q6A1624EBI-1166928,EBI-10171697
LNX1Q8TBB13EBI-1166928,EBI-739832
LRRFIP2Q9Y6083EBI-1166928,EBI-1023718
LZTS2Q9BRK43EBI-1166928,EBI-741037
MAGEA6P433603EBI-1166928,EBI-1045155
PAK7Q8TB933EBI-1166928,EBI-741896
PKP4Q995693EBI-1166928,EBI-726447
PRDM14Q9GZV84EBI-1166928,EBI-3957793
RELQ048643EBI-1166928,EBI-307352
RPIAP492473EBI-1166928,EBI-744831
SORBS2O948753EBI-1166928,EBI-311323
SPG21Q9NZD86EBI-1166928,EBI-742688
TP53BP2Q13625-33EBI-1166928,EBI-10175039
TRIM23P364063EBI-1166928,EBI-740098
TRIM27P143733EBI-1166928,EBI-719493

Protein-protein interaction databases

BioGridi124858. 34 interactions.
IntActiQ8N5M1. 22 interactions.
STRINGi9606.ENSP00000417190.

Structurei

3D structure databases

ProteinModelPortaliQ8N5M1.
SMRiQ8N5M1. Positions 11-264.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the ATP12 family.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiKOG3015. Eukaryota.
COG5387. LUCA.
GeneTreeiENSGT00390000009492.
HOGENOMiHOG000139577.
HOVERGENiHBG063751.
InParanoidiQ8N5M1.
KOiK07556.
OMAiHDVDYHD.
OrthoDBiEOG7J70H2.
PhylomeDBiQ8N5M1.
TreeFamiTF315138.

Family and domain databases

Gene3Di1.10.3580.10. 1 hit.
InterProiIPR011419. ATP12_ATPase-F1F0-assembly.
IPR023335. ATPase_assmbl_ATP12_dom.
[Graphical view]
PANTHERiPTHR21013. PTHR21013. 1 hit.
PfamiPF07542. ATP12. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

Q8N5M1-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MWRSCLRLRD GGRRLLNRPA GGPSASMSPG PTIPSPARAY APPTERKRFY
60 70 80 90 100
QNVSITQGEG GFEINLDHRK LKTPQAKLFT VPSEALAIAV ATEWDSQQDT
110 120 130 140 150
IKYYTMHLTT LCNTSLDNPT QRNKDQLIRA AVKFLDTDTI CYRVEEPETL
160 170 180 190 200
VELQRNEWDP IIEWAEKRYG VEISSSTSIM GPSIPAKTRE VLVSHLASYN
210 220 230 240 250
TWALQGIEFV AAQLKSMVLT LGLIDLRLTV EQAVLLSRLE EEYQIQKWGN
260 270 280
IEWAHDYELQ ELRARTAAGT LFIHLCSEST TVKHKLLKE
Length:289
Mass (Da):32,772
Last modified:October 1, 2002 - v1
Checksum:iE2D0CAB59BDAE6CD
GO

Sequence cautioni

The sequence AAP34466.1 differs from that shown. Reason: Frameshift at position 87. Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti94 – 941W → R in MC5DN1. 1 Publication
Corresponds to variant rs104894554 [ dbSNP | Ensembl ].
VAR_023386

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY203943 mRNA. Translation: AAP34466.1. Frameshift.
AK290257 mRNA. Translation: BAF82946.1.
AC087163 Genomic DNA. No translation available.
CH471196 Genomic DNA. Translation: EAW55680.1.
BC004114 mRNA. Translation: AAH04114.1.
BC032126 mRNA. Translation: AAH32126.1.
CCDSiCCDS32585.1.
RefSeqiNP_663729.1. NM_145691.3.
UniGeneiHs.528889.

Genome annotation databases

EnsembliENST00000474627; ENSP00000417190; ENSG00000171953.
GeneIDi91647.
KEGGihsa:91647.
UCSCiuc002gse.2. human.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY203943 mRNA. Translation: AAP34466.1. Frameshift.
AK290257 mRNA. Translation: BAF82946.1.
AC087163 Genomic DNA. No translation available.
CH471196 Genomic DNA. Translation: EAW55680.1.
BC004114 mRNA. Translation: AAH04114.1.
BC032126 mRNA. Translation: AAH32126.1.
CCDSiCCDS32585.1.
RefSeqiNP_663729.1. NM_145691.3.
UniGeneiHs.528889.

3D structure databases

ProteinModelPortaliQ8N5M1.
SMRiQ8N5M1. Positions 11-264.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi124858. 34 interactions.
IntActiQ8N5M1. 22 interactions.
STRINGi9606.ENSP00000417190.

PTM databases

iPTMnetiQ8N5M1.
PhosphoSiteiQ8N5M1.

Polymorphism and mutation databases

BioMutaiATPAF2.
DMDMi73917623.

Proteomic databases

EPDiQ8N5M1.
MaxQBiQ8N5M1.
PaxDbiQ8N5M1.
PeptideAtlasiQ8N5M1.
PRIDEiQ8N5M1.

Protocols and materials databases

DNASUi91647.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000474627; ENSP00000417190; ENSG00000171953.
GeneIDi91647.
KEGGihsa:91647.
UCSCiuc002gse.2. human.

Organism-specific databases

CTDi91647.
GeneCardsiATPAF2.
HGNCiHGNC:18802. ATPAF2.
HPAiHPA023329.
HPA059422.
MalaCardsiATPAF2.
MIMi604273. phenotype.
608918. gene.
neXtProtiNX_Q8N5M1.
Orphaneti254913. Isolated ATP synthase deficiency.
PharmGKBiPA38686.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3015. Eukaryota.
COG5387. LUCA.
GeneTreeiENSGT00390000009492.
HOGENOMiHOG000139577.
HOVERGENiHBG063751.
InParanoidiQ8N5M1.
KOiK07556.
OMAiHDVDYHD.
OrthoDBiEOG7J70H2.
PhylomeDBiQ8N5M1.
TreeFamiTF315138.

Miscellaneous databases

ChiTaRSiATPAF2. human.
GeneWikiiATPAF2.
GenomeRNAii91647.
PROiQ8N5M1.
SOURCEiSearch...

Gene expression databases

BgeeiQ8N5M1.
CleanExiHS_ATPAF2.
ExpressionAtlasiQ8N5M1. baseline and differential.
GenevisibleiQ8N5M1. HS.

Family and domain databases

Gene3Di1.10.3580.10. 1 hit.
InterProiIPR011419. ATP12_ATPase-F1F0-assembly.
IPR023335. ATPase_assmbl_ATP12_dom.
[Graphical view]
PANTHERiPTHR21013. PTHR21013. 1 hit.
PfamiPF07542. ATP12. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Large-scale cDNA transfection screening for genes related to cancer development and progression."
    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.
    Proc. Natl. Acad. Sci. U.S.A. 101:15724-15729(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    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.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  3. "DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
    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.
    Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Muscle and Ovary.
  6. "Atp11p and Atp12p are assembly factors for the F(1)-ATPase in human mitochondria."
    Wang Z.-G., White P.S., Ackerman S.H.
    J. Biol. Chem. 276:30773-30778(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, INTERACTION WITH ATP5A1, TISSUE SPECIFICITY.
  7. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  8. "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."
    Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L., Ye M., Zou H.
    J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Liver.
  9. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  10. "Respiratory chain complex V deficiency due to a mutation in the assembly gene ATP12."
    De Meirleir L., Seneca S., Lissens W., De Clercq I., Eyskens F., Gerlo E., Smet J., Van Coster R.
    J. Med. Genet. 41:120-124(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT MC5DN1 ARG-94.

Entry informationi

Entry nameiATPF2_HUMAN
AccessioniPrimary (citable) accession number: Q8N5M1
Secondary accession number(s): A6NDE5, A8K2J2, Q6XYC7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: August 30, 2005
Last sequence update: October 1, 2002
Last modified: July 6, 2016
This is version 116 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.