Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

ATP synthase mitochondrial F1 complex assembly factor 2

Gene

ATPAF2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

EuPathDBiHostDB:ENSG00000171953.15
HGNCiHGNC:18802 ATPAF2
MIMi608918 gene
neXtProtiNX_Q8N5M1

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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:rs104894554EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Primary mitochondrial disease

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 ATP5F1A (PubMed:11410595). Interacts with FMC1 (PubMed:28719601).2 Publications

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi124858, 38 interactors
IntActiQ8N5M1, 52 interactors
MINTiQ8N5M1
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
OMAiWAEKRYG
OrthoDBiEOG091G0GQO
PhylomeDBiQ8N5M1
TreeFamiTF315138

Family and domain databases

Gene3Di1.10.3580.10, 1 hit
InterProiView protein in InterPro
IPR011419 ATP12_ATP_synth-F1-assembly
IPR023335 ATP12_ortho_dom_sf
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:rs104894554EnsemblClinVar.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

Similar proteinsi

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: May 23, 2018
This is version 129 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

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health