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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

Keywordsi

Molecular functionChaperone

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

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)DescriptionActionsGraphical viewLength
Natural variantiVAR_02338694W → R in MC5DN1. 1 PublicationCorresponds to variant dbSNP:rs104894554Ensembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi91647.
MalaCardsiATPAF2.
MIMi604273. phenotype.
OpenTargetsiENSG00000171953.
Orphaneti254913. Isolated ATP synthase deficiency.
PharmGKBiPA38686.

Polymorphism and mutation databases

BioMutaiATPAF2.
DMDMi73917623.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transit peptidei1 – 40MitochondrionSequence analysisAdd BLAST40
ChainiPRO_000000241841 – 289ATP synthase mitochondrial F1 complex assembly factor 2Add BLAST249

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei133N6-succinyllysineBy similarity1

Proteomic databases

EPDiQ8N5M1.
MaxQBiQ8N5M1.
PaxDbiQ8N5M1.
PeptideAtlasiQ8N5M1.
PRIDEiQ8N5M1.

PTM databases

iPTMnetiQ8N5M1.
PhosphoSitePlusiQ8N5M1.

Expressioni

Tissue specificityi

Widely expressed.1 Publication

Gene expression databases

BgeeiENSG00000171953.
CleanExiHS_ATPAF2.
ExpressionAtlasiQ8N5M1. baseline and differential.
GenevisibleiQ8N5M1. HS.

Organism-specific databases

HPAiHPA023329.
HPA059422.

Interactioni

Subunit structurei

Interacts with ATP5A1.1 Publication

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi124858. 35 interactors.
IntActiQ8N5M1. 30 interactors.
STRINGi9606.ENSP00000417190.

Structurei

3D structure databases

ProteinModelPortaliQ8N5M1.
SMRiQ8N5M1.
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.
OrthoDBiEOG090A09OW.
PhylomeDBiQ8N5M1.
TreeFamiTF315138.

Family and domain databases

Gene3Di1.10.3580.10. 1 hit.
InterProiView protein in InterPro
IPR011419. ATP12_ATP_synth-F1-assembly.
IPR023335. ATPase_assmbl_ATP12_dom.
PANTHERiPTHR21013. PTHR21013. 1 hit.
PfamiView protein in Pfam
PF07542. ATP12. 1 hit.

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 differs from that shown. Reason: Frameshift at position 87.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02338694W → R in MC5DN1. 1 PublicationCorresponds to variant dbSNP:rs104894554Ensembl.1

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.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi124858. 35 interactors.
IntActiQ8N5M1. 30 interactors.
STRINGi9606.ENSP00000417190.

PTM databases

iPTMnetiQ8N5M1.
PhosphoSitePlusiQ8N5M1.

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.
DisGeNETi91647.
GeneCardsiATPAF2.
HGNCiHGNC:18802. ATPAF2.
HPAiHPA023329.
HPA059422.
MalaCardsiATPAF2.
MIMi604273. phenotype.
608918. gene.
neXtProtiNX_Q8N5M1.
OpenTargetsiENSG00000171953.
Orphaneti254913. Isolated ATP synthase deficiency.
PharmGKBiPA38686.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3015. Eukaryota.
COG5387. LUCA.
GeneTreeiENSGT00390000009492.
HOGENOMiHOG000139577.
HOVERGENiHBG063751.
InParanoidiQ8N5M1.
KOiK07556.
OMAiHDVDYHD.
OrthoDBiEOG090A09OW.
PhylomeDBiQ8N5M1.
TreeFamiTF315138.

Miscellaneous databases

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

Gene expression databases

BgeeiENSG00000171953.
CleanExiHS_ATPAF2.
ExpressionAtlasiQ8N5M1. baseline and differential.
GenevisibleiQ8N5M1. HS.

Family and domain databases

Gene3Di1.10.3580.10. 1 hit.
InterProiView protein in InterPro
IPR011419. ATP12_ATP_synth-F1-assembly.
IPR023335. ATPase_assmbl_ATP12_dom.
PANTHERiPTHR21013. PTHR21013. 1 hit.
PfamiView protein in Pfam
PF07542. ATP12. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiATPF2_HUMAN
AccessioniPrimary (citable) accession number: Q8N5M1
Secondary accession number(s): A6NDE5, A8K2J2, Q6XYC7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 30, 2005
Last sequence update: October 1, 2002
Last modified: February 15, 2017
This is version 121 of the entry and version 1 of the sequence. See 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.