UniProtKB - Q5TC12 (ATPF1_HUMAN)
Protein
ATP synthase mitochondrial F1 complex assembly factor 1
Gene
ATPAF1
Organism
Homo sapiens (Human)
Status
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
Enzyme and pathway databases
BioCyci | MetaCyc:ENSG00000123472-MONOMER |
PathwayCommonsi | Q5TC12 |
Names & Taxonomyi
Protein namesi | Recommended name: ATP synthase mitochondrial F1 complex assembly factor 1Alternative name(s): ATP11 homolog |
Gene namesi | Name:ATPAF1 Synonyms:ATP11 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:18803, ATPAF1 |
MIMi | 608917, gene |
neXtProti | NX_Q5TC12 |
VEuPathDBi | HostDB:ENSG00000123472.12 |
Subcellular locationi
Mitochondrion
- Mitochondrion By similarity
Mitochondrion
- mitochondrion Source: GO_Central
Keywords - Cellular componenti
MitochondrionPathology & Biotechi
Organism-specific databases
DisGeNETi | 64756 |
MalaCardsi | ATPAF1 |
OpenTargetsi | ENSG00000123472 |
Orphaneti | 254913, Isolated ATP synthase deficiency |
PharmGKBi | PA38687 |
Miscellaneous databases
Pharosi | Q5TC12, Tdark |
Genetic variation databases
BioMutai | ATPAF1 |
DMDMi | 170652901 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Transit peptidei | 1 – 57 | MitochondrionSequence analysisAdd BLAST | 57 | |
ChainiPRO_0000318915 | 58 – 328 | ATP synthase mitochondrial F1 complex assembly factor 1Add BLAST | 271 |
Proteomic databases
EPDi | Q5TC12 |
jPOSTi | Q5TC12 |
MassIVEi | Q5TC12 |
MaxQBi | Q5TC12 |
PaxDbi | Q5TC12 |
PeptideAtlasi | Q5TC12 |
PRIDEi | Q5TC12 |
ProteomicsDBi | 64936 [Q5TC12-1] 6856 6874 |
PTM databases
iPTMneti | Q5TC12 |
PhosphoSitePlusi | Q5TC12 |
Expressioni
Tissue specificityi
Weakly expressed in muscle.1 Publication
Gene expression databases
Bgeei | ENSG00000123472, Expressed in left ventricle myocardium and 217 other tissues |
ExpressionAtlasi | Q5TC12, baseline and differential |
Genevisiblei | Q5TC12, HS |
Organism-specific databases
HPAi | ENSG00000123472, Tissue enhanced (heart) |
Interactioni
Subunit structurei
Interacts with ATP5B.
1 PublicationProtein-protein interaction databases
BioGRIDi | 122270, 34 interactors |
IntActi | Q5TC12, 21 interactors |
MINTi | Q5TC12 |
STRINGi | 9606.ENSP00000460964 |
Miscellaneous databases
RNActi | Q5TC12, protein |
Family & Domainsi
Sequence similaritiesi
Belongs to the ATP11 family.Curated
Keywords - Domaini
Transit peptidePhylogenomic databases
eggNOGi | KOG3281, Eukaryota |
GeneTreei | ENSGT00390000012765 |
HOGENOMi | CLU_1485271_0_0_1 |
InParanoidi | Q5TC12 |
OrthoDBi | 1108259at2759 |
PhylomeDBi | Q5TC12 |
TreeFami | TF325166 |
Family and domain databases
InterProi | View protein in InterPro IPR010591, ATP11 |
PANTHERi | PTHR13126, PTHR13126, 1 hit |
Pfami | View protein in Pfam PF06644, ATP11, 1 hit |
s (3+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketThis 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 sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There are 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketI3L448 | I3L448_HUMAN | ATP synthase mitochondrial F1 compl... | ATPAF1 | 351 | Annotation score: | ||
A8MRA7 | A8MRA7_HUMAN | ATP synthase mitochondrial F1 compl... | ATPAF1 | 283 | Annotation score: | ||
H0YCA6 | H0YCA6_HUMAN | ATP synthase mitochondrial F1 compl... | ATPAF1 | 113 | Annotation score: | ||
H0YEW4 | H0YEW4_HUMAN | ATP synthase mitochondrial F1 compl... | ATPAF1 | 174 | Annotation score: | ||
H0YD21 | H0YD21_HUMAN | ATP synthase mitochondrial F1 compl... | ATPAF1 | 183 | Annotation score: | ||
E9PPX6 | E9PPX6_HUMAN | ATP synthase mitochondrial F1 compl... | ATPAF1 | 45 | Annotation score: | ||
H0YDD6 | H0YDD6_HUMAN | ATP synthase mitochondrial F1 compl... | ATPAF1 | 86 | Annotation score: |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_038906 | 62 | S → G2 PublicationsCorresponds to variant dbSNP:rs11211337Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_045437 | 1 – 151 | Missing in isoform 2. 1 PublicationAdd BLAST | 151 | |
Alternative sequenceiVSP_045438 | 1 – 89 | MAAVV…QLLRR → M in isoform 3. 1 PublicationAdd BLAST | 89 |
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 |
CCDSi | CCDS57997.1 [Q5TC12-2] CCDS57998.1 [Q5TC12-3] |
RefSeqi | NP_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 |
Genome annotation databases
Ensembli | ENST00000532925; ENSP00000435732; ENSG00000123472 [Q5TC12-3] ENST00000542495; ENSP00000443588; ENSG00000123472 [Q5TC12-2] ENST00000574428; ENSP00000459167; ENSG00000123472 [Q5TC12-1] |
GeneIDi | 64756 |
KEGGi | hsa:64756 |
UCSCi | uc009vyk.4, human [Q5TC12-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar 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 |
CCDSi | CCDS57997.1 [Q5TC12-2] CCDS57998.1 [Q5TC12-3] |
RefSeqi | NP_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 |
3D structure databases
SMRi | Q5TC12 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 122270, 34 interactors |
IntActi | Q5TC12, 21 interactors |
MINTi | Q5TC12 |
STRINGi | 9606.ENSP00000460964 |
PTM databases
iPTMneti | Q5TC12 |
PhosphoSitePlusi | Q5TC12 |
Genetic variation databases
BioMutai | ATPAF1 |
DMDMi | 170652901 |
Proteomic databases
EPDi | Q5TC12 |
jPOSTi | Q5TC12 |
MassIVEi | Q5TC12 |
MaxQBi | Q5TC12 |
PaxDbi | Q5TC12 |
PeptideAtlasi | Q5TC12 |
PRIDEi | Q5TC12 |
ProteomicsDBi | 64936 [Q5TC12-1] 6856 6874 |
Protocols and materials databases
Antibodypediai | 32819, 80 antibodies |
DNASUi | 64756 |
Genome annotation databases
Ensembli | ENST00000532925; ENSP00000435732; ENSG00000123472 [Q5TC12-3] ENST00000542495; ENSP00000443588; ENSG00000123472 [Q5TC12-2] ENST00000574428; ENSP00000459167; ENSG00000123472 [Q5TC12-1] |
GeneIDi | 64756 |
KEGGi | hsa:64756 |
UCSCi | uc009vyk.4, human [Q5TC12-1] |
Organism-specific databases
CTDi | 64756 |
DisGeNETi | 64756 |
GeneCardsi | ATPAF1 |
HGNCi | HGNC:18803, ATPAF1 |
HPAi | ENSG00000123472, Tissue enhanced (heart) |
MalaCardsi | ATPAF1 |
MIMi | 608917, gene |
neXtProti | NX_Q5TC12 |
OpenTargetsi | ENSG00000123472 |
Orphaneti | 254913, Isolated ATP synthase deficiency |
PharmGKBi | PA38687 |
VEuPathDBi | HostDB:ENSG00000123472.12 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3281, Eukaryota |
GeneTreei | ENSGT00390000012765 |
HOGENOMi | CLU_1485271_0_0_1 |
InParanoidi | Q5TC12 |
OrthoDBi | 1108259at2759 |
PhylomeDBi | Q5TC12 |
TreeFami | TF325166 |
Enzyme and pathway databases
BioCyci | MetaCyc:ENSG00000123472-MONOMER |
PathwayCommonsi | Q5TC12 |
Miscellaneous databases
BioGRID-ORCSi | 64756, 6 hits in 872 CRISPR screens |
ChiTaRSi | ATPAF1, human |
GeneWikii | ATPAF1 |
GenomeRNAii | 64756 |
Pharosi | Q5TC12, Tdark |
PROi | PR:Q5TC12 |
RNActi | Q5TC12, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000123472, Expressed in left ventricle myocardium and 217 other tissues |
ExpressionAtlasi | Q5TC12, baseline and differential |
Genevisiblei | Q5TC12, HS |
Family and domain databases
InterProi | View protein in InterPro IPR010591, ATP11 |
PANTHERi | PTHR13126, PTHR13126, 1 hit |
Pfami | View protein in Pfam PF06644, ATP11, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | ATPF1_HUMAN | |
Accessioni | Q5TC12Primary (citable) accession number: Q5TC12 Secondary accession number(s): B1AQW7 Q9H6E3 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | March 18, 2008 |
Last sequence update: | February 5, 2008 | |
Last modified: | February 10, 2021 | |
This is version 99 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human chromosome 1
Human chromosome 1: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families