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Protein

ATP synthase mitochondrial F1 complex assembly factor 1

Gene

ATPAF1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-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

Complete GO annotation...

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

HGNCiHGNC:18803. ATPAF1.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Organism-specific databases

MalaCardsiATPAF1.
Orphaneti254913. Isolated ATP synthase deficiency.
PharmGKBiPA38687.

Polymorphism and mutation databases

BioMutaiATPAF1.
DMDMi170652901.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transit peptidei1 – 5757MitochondrionSequence analysisAdd
BLAST
Chaini58 – 328271ATP synthase mitochondrial F1 complex assembly factor 1PRO_0000318915Add
BLAST

Proteomic databases

EPDiQ5TC12.
MaxQBiQ5TC12.
PaxDbiQ5TC12.
PeptideAtlasiQ5TC12.
PRIDEiQ5TC12.

PTM databases

iPTMnetiQ5TC12.
PhosphoSiteiQ5TC12.

Expressioni

Tissue specificityi

Weakly expressed in muscle.1 Publication

Gene expression databases

BgeeiENSG00000123472.
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. 8 interactions.
IntActiQ5TC12. 5 interactions.
STRINGi9606.ENSP00000361005.

Structurei

3D structure databases

ProteinModelPortaliQ5TC12.
SMRiQ5TC12. Positions 142-313.
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

InterProiIPR010591. ATP11.
[Graphical view]
PANTHERiPTHR13126. PTHR13126. 1 hit.
PfamiPF06644. ATP11. 1 hit.
[Graphical view]

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

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

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti62 – 621S → G.2 Publications
Corresponds to variant rs11211337 [ dbSNP | Ensembl ].
VAR_038906

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 151151Missing in isoform 2. 1 PublicationVSP_045437Add
BLAST
Alternative sequencei1 – 8989MAAVV…QLLRR → M in isoform 3. 1 PublicationVSP_045438Add
BLAST

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, AL593856 Genomic DNA. Translation: CAI14761.1.
AL593856, AL136373 Genomic DNA. Translation: CAI16978.1.
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

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, AL593856 Genomic DNA. Translation: CAI14761.1.
AL593856, AL136373 Genomic DNA. Translation: CAI16978.1.
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. Positions 142-313.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122270. 8 interactions.
IntActiQ5TC12. 5 interactions.
STRINGi9606.ENSP00000361005.

PTM databases

iPTMnetiQ5TC12.
PhosphoSiteiQ5TC12.

Polymorphism and mutation databases

BioMutaiATPAF1.
DMDMi170652901.

Proteomic databases

EPDiQ5TC12.
MaxQBiQ5TC12.
PaxDbiQ5TC12.
PeptideAtlasiQ5TC12.
PRIDEiQ5TC12.

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.
GeneCardsiATPAF1.
H-InvDBHIX0200231.
HGNCiHGNC:18803. ATPAF1.
HPAiHPA028382.
HPA044950.
MalaCardsiATPAF1.
MIMi608917. gene.
neXtProtiNX_Q5TC12.
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.
PROiQ5TC12.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000123472.
CleanExiHS_ATPAF1.
ExpressionAtlasiQ5TC12. baseline and differential.
GenevisibleiQ5TC12. HS.

Family and domain databases

InterProiIPR010591. ATP11.
[Graphical view]
PANTHERiPTHR13126. PTHR13126. 1 hit.
PfamiPF06644. ATP11. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiATPF1_HUMAN
AccessioniPrimary (citable) accession number: Q5TC12
Secondary accession number(s): B1AQW7
, B7Z7D6, B7Z7I6, Q9H6E3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 18, 2008
Last sequence update: February 5, 2008
Last modified: September 7, 2016
This is version 76 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 1
    Human chromosome 1: 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.