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Protein

ATP synthase mitochondrial F1 complex assembly factor 1

Gene

ATPAF1

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

Functioni

May play an essential role for the assembly of the mitochondrial F1-F0 complex.By similarity

GO - Biological processi

  • mitochondrial proton-transporting ATP synthase complex assembly Source: GO_Central

Names & Taxonomyi

Protein namesi
Recommended name:
ATP synthase mitochondrial F1 complex assembly factor 1
Alternative name(s):
ATP11 homolog
Gene namesi
Name:ATPAF1
Synonyms:ATP11
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000123472.12
HGNCiHGNC:18803 ATPAF1
MIMi608917 gene
neXtProtiNX_Q5TC12

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

Organism-specific databases

DisGeNETi64756
MalaCardsiATPAF1
OpenTargetsiENSG00000123472
Orphaneti254913 Isolated ATP synthase deficiency
PharmGKBiPA38687

Polymorphism and mutation databases

BioMutaiATPAF1
DMDMi170652901

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transit peptidei1 – 57MitochondrionSequence analysisAdd BLAST57
ChainiPRO_000031891558 – 328ATP synthase mitochondrial F1 complex assembly factor 1Add BLAST271

Proteomic databases

EPDiQ5TC12
MaxQBiQ5TC12
PaxDbiQ5TC12
PeptideAtlasiQ5TC12
PRIDEiQ5TC12
ProteomicsDBi64936

PTM databases

iPTMnetiQ5TC12
PhosphoSitePlusiQ5TC12

Expressioni

Tissue specificityi

Weakly expressed in muscle.1 Publication

Gene expression databases

BgeeiENSG00000123472 Expressed in 204 organ(s), highest expression level in left ventricle myocardium
CleanExiHS_ATPAF1
ExpressionAtlasiQ5TC12 baseline and differential
GenevisibleiQ5TC12 HS

Organism-specific databases

HPAiHPA028382
HPA044950

Interactioni

Subunit structurei

Interacts with ATP5B.1 Publication

Protein-protein interaction databases

BioGridi122270, 11 interactors
IntActiQ5TC12, 15 interactors
MINTiQ5TC12
STRINGi9606.ENSP00000361005

Structurei

3D structure databases

ProteinModelPortaliQ5TC12
SMRiQ5TC12
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the ATP11 family.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiKOG3281 Eukaryota
ENOG4111CKE LUCA
GeneTreeiENSGT00390000012765
HOGENOMiHOG000015161
HOVERGENiHBG106254
InParanoidiQ5TC12
KOiK07555
PhylomeDBiQ5TC12
TreeFamiTF325166

Family and domain databases

InterProiView protein in InterPro
IPR010591 ATP11
PANTHERiPTHR13126 PTHR13126, 1 hit
PfamiView protein in Pfam
PF06644 ATP11, 1 hit

Sequences (3+)i

Sequence statusi: Complete.

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

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 7 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q5TC12-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MAAVVVAAAG GAGPAVLQVA GLYRGLCAVR SRALGLGLVS PAQLRVFPVR
60 70 80 90 100
PGSGRPEGGA DSSGVGAEAE LQANPFYDRY RDKIQLLRRS DPAAFESRLE
110 120 130 140 150
KRSEFRKQPV GHSRQGDFIK CVEQKTDALG KQSVNRGFTK DKTLSSIFNI
160 170 180 190 200
EMVKEKTAEE IKQIWQQYFA AKDTVYAVIP AEKFDLIWNR AQSCPTFLCA
210 220 230 240 250
LPRREGYEFF VGQWTGTELH FTALINIQTR GEAAASQLIL YHYPELKEEK
260 270 280 290 300
GIVLMTAEMD STFLNVAEAQ CIANQVQLFY ATDRKETYGL VETFNLRPNE
310 320
FKYMSVIAEL EQSGLGAELK CAQNQNKT
Length:328
Mass (Da):36,437
Last modified:February 5, 2008 - v1
Checksum:iA8981BC21AADE3AA
GO
Isoform 2 (identifier: Q5TC12-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-151: Missing.

Show »
Length:177
Mass (Da):20,281
Checksum:i578BE5DF30D0AF1A
GO
Isoform 3 (identifier: Q5TC12-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-89: MAAVVVAAAG...YRDKIQLLRR → M

Show »
Length:240
Mass (Da):27,438
Checksum:i1F6696F39ADD37E5
GO

Computationally mapped potential isoform sequencesi

There are 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
I3L448I3L448_HUMAN
ATP synthase mitochondrial F1 compl...
ATPAF1
351Annotation score:
A8MRA7A8MRA7_HUMAN
ATP synthase mitochondrial F1 compl...
ATPAF1
283Annotation score:
H0YCA6H0YCA6_HUMAN
ATP synthase mitochondrial F1 compl...
ATPAF1
113Annotation score:
H0YEW4H0YEW4_HUMAN
ATP synthase mitochondrial F1 compl...
ATPAF1
174Annotation score:
H0YD21H0YD21_HUMAN
ATP synthase mitochondrial F1 compl...
ATPAF1
183Annotation score:
H0YDD6H0YDD6_HUMAN
ATP synthase mitochondrial F1 compl...
ATPAF1
86Annotation score:
E9PPX6E9PPX6_HUMAN
ATP synthase mitochondrial F1 compl...
ATPAF1
45Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03890662S → G2 PublicationsCorresponds to variant dbSNP:rs11211337Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0454371 – 151Missing in isoform 2. 1 PublicationAdd BLAST151
Alternative sequenceiVSP_0454381 – 89MAAVV…QLLRR → M in isoform 3. 1 PublicationAdd BLAST89

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK026004 mRNA Translation: BAB15316.1
AK301874 mRNA Translation: BAH13572.1
AK302090 mRNA Translation: BAH13622.1
AL136373 Genomic DNA No translation available.
AL593856 Genomic DNA No translation available.
BC008498 mRNA Translation: AAH08498.1
BC018781 mRNA Translation: AAH18781.1
BC071731 mRNA Translation: AAH71731.1
CCDSiCCDS57997.1 [Q5TC12-2]
CCDS57998.1 [Q5TC12-3]
RefSeqiNP_001036011.2, NM_001042546.2
NP_001230657.1, NM_001243728.1 [Q5TC12-3]
NP_001243347.1, NM_001256418.1 [Q5TC12-2]
NP_073582.3, NM_022745.4
UniGeneiHs.100874

Genome annotation databases

EnsembliENST00000532925; ENSP00000435732; ENSG00000123472 [Q5TC12-3]
ENST00000542495; ENSP00000443588; ENSG00000123472 [Q5TC12-2]
ENST00000574428; ENSP00000459167; ENSG00000123472 [Q5TC12-1]
GeneIDi64756
KEGGihsa:64756
UCSCiuc009vyk.4 human [Q5TC12-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK026004 mRNA Translation: BAB15316.1
AK301874 mRNA Translation: BAH13572.1
AK302090 mRNA Translation: BAH13622.1
AL136373 Genomic DNA No translation available.
AL593856 Genomic DNA No translation available.
BC008498 mRNA Translation: AAH08498.1
BC018781 mRNA Translation: AAH18781.1
BC071731 mRNA Translation: AAH71731.1
CCDSiCCDS57997.1 [Q5TC12-2]
CCDS57998.1 [Q5TC12-3]
RefSeqiNP_001036011.2, NM_001042546.2
NP_001230657.1, NM_001243728.1 [Q5TC12-3]
NP_001243347.1, NM_001256418.1 [Q5TC12-2]
NP_073582.3, NM_022745.4
UniGeneiHs.100874

3D structure databases

ProteinModelPortaliQ5TC12
SMRiQ5TC12
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122270, 11 interactors
IntActiQ5TC12, 15 interactors
MINTiQ5TC12
STRINGi9606.ENSP00000361005

PTM databases

iPTMnetiQ5TC12
PhosphoSitePlusiQ5TC12

Polymorphism and mutation databases

BioMutaiATPAF1
DMDMi170652901

Proteomic databases

EPDiQ5TC12
MaxQBiQ5TC12
PaxDbiQ5TC12
PeptideAtlasiQ5TC12
PRIDEiQ5TC12
ProteomicsDBi64936

Protocols and materials databases

DNASUi64756
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000532925; ENSP00000435732; ENSG00000123472 [Q5TC12-3]
ENST00000542495; ENSP00000443588; ENSG00000123472 [Q5TC12-2]
ENST00000574428; ENSP00000459167; ENSG00000123472 [Q5TC12-1]
GeneIDi64756
KEGGihsa:64756
UCSCiuc009vyk.4 human [Q5TC12-1]

Organism-specific databases

CTDi64756
DisGeNETi64756
EuPathDBiHostDB:ENSG00000123472.12
GeneCardsiATPAF1
H-InvDBiHIX0200231
HGNCiHGNC:18803 ATPAF1
HPAiHPA028382
HPA044950
MalaCardsiATPAF1
MIMi608917 gene
neXtProtiNX_Q5TC12
OpenTargetsiENSG00000123472
Orphaneti254913 Isolated ATP synthase deficiency
PharmGKBiPA38687
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3281 Eukaryota
ENOG4111CKE LUCA
GeneTreeiENSGT00390000012765
HOGENOMiHOG000015161
HOVERGENiHBG106254
InParanoidiQ5TC12
KOiK07555
PhylomeDBiQ5TC12
TreeFamiTF325166

Miscellaneous databases

ChiTaRSiATPAF1 human
GeneWikiiATPAF1
GenomeRNAii64756
PROiPR:Q5TC12
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000123472 Expressed in 204 organ(s), highest expression level in left ventricle myocardium
CleanExiHS_ATPAF1
ExpressionAtlasiQ5TC12 baseline and differential
GenevisibleiQ5TC12 HS

Family and domain databases

InterProiView protein in InterPro
IPR010591 ATP11
PANTHERiPTHR13126 PTHR13126, 1 hit
PfamiView protein in Pfam
PF06644 ATP11, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiATPF1_HUMAN
AccessioniPrimary (citable) accession number: Q5TC12
Secondary accession number(s): B1AQW7
, B7Z7D6, B7Z7I6, Q9H6E3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 18, 2008
Last sequence update: February 5, 2008
Last modified: September 12, 2018
This is version 85 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. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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