Details for: ATP5F1A

Gene ID: 498

Symbol: ATP5F1A

Ensembl ID: ENSG00000152234

Description: ATP synthase F1 subunit alpha

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: skeletal muscle satellite cell (CL0000594)
    Fold Change: 6.65
    Marker Score: 4446
  • Cell Name: mature gamma-delta T cell (CL0000800)
    Fold Change: 4.22
    Marker Score: 13314
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: 4.17
    Marker Score: 55520
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 4.17
    Marker Score: 233300
  • Cell Name: mature alpha-beta T cell (CL0000791)
    Fold Change: 4.16
    Marker Score: 219918
  • Cell Name: myeloid dendritic cell (CL0000782)
    Fold Change: 4.12
    Marker Score: 2498
  • Cell Name: follicular B cell (CL0000843)
    Fold Change: 4.1
    Marker Score: 4440
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 4.09
    Marker Score: 8637
  • Cell Name: ventricular cardiac muscle cell (CL2000046)
    Fold Change: 3.91
    Marker Score: 1621
  • Cell Name: renal intercalated cell (CL0005010)
    Fold Change: 3.67
    Marker Score: 1955.5
  • Cell Name: tracheobronchial smooth muscle cell (CL0019019)
    Fold Change: 3.52
    Marker Score: 1031
  • Cell Name: extravillous trophoblast (CL0008036)
    Fold Change: 3.44
    Marker Score: 3073
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 3.43
    Marker Score: 9194
  • Cell Name: mesodermal cell (CL0000222)
    Fold Change: 3.43
    Marker Score: 45220
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: 3.4
    Marker Score: 2396
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 3.3
    Marker Score: 3989
  • Cell Name: CD4-positive, alpha-beta thymocyte (CL0000810)
    Fold Change: 3.27
    Marker Score: 1826
  • Cell Name: erythroid progenitor cell (CL0000038)
    Fold Change: 3.2
    Marker Score: 3334
  • Cell Name: cord blood hematopoietic stem cell (CL2000095)
    Fold Change: 3.19
    Marker Score: 2410
  • Cell Name: glycinergic amacrine cell (CL4030028)
    Fold Change: 3.07
    Marker Score: 2897.5
  • Cell Name: classical monocyte (CL0000860)
    Fold Change: 2.99
    Marker Score: 12410
  • Cell Name: enteric neuron (CL0007011)
    Fold Change: 2.95
    Marker Score: 1570
  • Cell Name: CD8-positive, alpha-beta memory T cell (CL0000909)
    Fold Change: 2.92
    Marker Score: 2483
  • Cell Name: radial glial cell (CL0000681)
    Fold Change: 2.89
    Marker Score: 1067
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: 2.88
    Marker Score: 4780
  • Cell Name: basal cell of epithelium of trachea (CL1000348)
    Fold Change: 2.84
    Marker Score: 21175
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 2.83
    Marker Score: 18438
  • Cell Name: blood cell (CL0000081)
    Fold Change: 2.82
    Marker Score: 32750.5
  • Cell Name: fetal cardiomyocyte (CL0002495)
    Fold Change: 2.81
    Marker Score: 925
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 2.81
    Marker Score: 5709.5
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: 2.8
    Marker Score: 1593
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 2.8
    Marker Score: 7994
  • Cell Name: neuroblast (sensu Vertebrata) (CL0000031)
    Fold Change: 2.78
    Marker Score: 1744
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 2.76
    Marker Score: 6291
  • Cell Name: IgG plasmablast (CL0000982)
    Fold Change: 2.74
    Marker Score: 756
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: 2.73
    Marker Score: 11162
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 2.71
    Marker Score: 9612
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 2.7
    Marker Score: 5643
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: 2.68
    Marker Score: 20908
  • Cell Name: Mueller cell (CL0000636)
    Fold Change: 2.67
    Marker Score: 3700
  • Cell Name: CD8-alpha-alpha-positive, alpha-beta intraepithelial T cell (CL0000915)
    Fold Change: 2.66
    Marker Score: 3760
  • Cell Name: mesenchymal stem cell (CL0000134)
    Fold Change: 2.64
    Marker Score: 4070
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 2.63
    Marker Score: 2793
  • Cell Name: lung secretory cell (CL1000272)
    Fold Change: 2.62
    Marker Score: 2338
  • Cell Name: neural crest cell (CL0011012)
    Fold Change: 2.62
    Marker Score: 2799
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 2.59
    Marker Score: 6336
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 2.59
    Marker Score: 9981
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: 2.58
    Marker Score: 6504
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: 2.57
    Marker Score: 22117
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 2.54
    Marker Score: 88146
  • Cell Name: migratory enteric neural crest cell (CL0002607)
    Fold Change: 2.54
    Marker Score: 2385
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 2.53
    Marker Score: 754.5
  • Cell Name: late pro-B cell (CL0002048)
    Fold Change: 2.51
    Marker Score: 2965
  • Cell Name: enteric smooth muscle cell (CL0002504)
    Fold Change: 2.51
    Marker Score: 5911.5
  • Cell Name: medullary thymic epithelial cell (CL0002365)
    Fold Change: 2.5
    Marker Score: 4106.5
  • Cell Name: enterocyte (CL0000584)
    Fold Change: 2.5
    Marker Score: 11996
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 2.5
    Marker Score: 4244.5
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 2.48
    Marker Score: 10709
  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 2.47
    Marker Score: 3551
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 2.46
    Marker Score: 24975
  • Cell Name: peripheral nervous system neuron (CL2000032)
    Fold Change: 2.46
    Marker Score: 2761
  • Cell Name: Kupffer cell (CL0000091)
    Fold Change: 2.46
    Marker Score: 2458
  • Cell Name: motor neuron (CL0000100)
    Fold Change: 2.44
    Marker Score: 1447
  • Cell Name: B-1 B cell (CL0000819)
    Fold Change: 2.43
    Marker Score: 4243
  • Cell Name: colon epithelial cell (CL0011108)
    Fold Change: 2.43
    Marker Score: 7639.5
  • Cell Name: mature T cell (CL0002419)
    Fold Change: 2.43
    Marker Score: 24093
  • Cell Name: ovarian surface epithelial cell (CL2000064)
    Fold Change: 2.43
    Marker Score: 6605
  • Cell Name: decidual natural killer cell, human (CL0002343)
    Fold Change: 2.42
    Marker Score: 6694
  • Cell Name: naive thymus-derived CD8-positive, alpha-beta T cell (CL0000900)
    Fold Change: 2.41
    Marker Score: 4312
  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: 2.41
    Marker Score: 2571
  • Cell Name: supporting cell (CL0000630)
    Fold Change: 2.39
    Marker Score: 4495
  • Cell Name: myeloid leukocyte (CL0000766)
    Fold Change: 2.39
    Marker Score: 2883
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 2.38
    Marker Score: 2188
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 2.38
    Marker Score: 2397
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: 2.37
    Marker Score: 14082.5
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 2.37
    Marker Score: 567
  • Cell Name: inhibitory motor neuron (CL0008015)
    Fold Change: 2.37
    Marker Score: 1120
  • Cell Name: smooth muscle cell (CL0000192)
    Fold Change: 2.37
    Marker Score: 1558
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 2.36
    Marker Score: 1574.5
  • Cell Name: malignant cell (CL0001064)
    Fold Change: 2.33
    Marker Score: 31310
  • Cell Name: thymocyte (CL0000893)
    Fold Change: 2.33
    Marker Score: 2440
  • Cell Name: serous secreting cell (CL0000313)
    Fold Change: 2.32
    Marker Score: 928
  • Cell Name: epithelial cell (CL0000066)
    Fold Change: 2.32
    Marker Score: 3693.5
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 2.32
    Marker Score: 2411
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 2.3
    Marker Score: 6830
  • Cell Name: lung ciliated cell (CL1000271)
    Fold Change: 2.3
    Marker Score: 1092
  • Cell Name: ciliated columnar cell of tracheobronchial tree (CL0002145)
    Fold Change: 2.3
    Marker Score: 19939
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 2.28
    Marker Score: 2416
  • Cell Name: CD14-positive, CD16-positive monocyte (CL0002397)
    Fold Change: 2.28
    Marker Score: 4443
  • Cell Name: interstitial cell of Cajal (CL0002088)
    Fold Change: 2.28
    Marker Score: 789.5
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 2.28
    Marker Score: 25681
  • Cell Name: CD34-positive, CD38-negative hematopoietic stem cell (CL0001024)
    Fold Change: 2.27
    Marker Score: 1646
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 2.27
    Marker Score: 8919
  • Cell Name: mucous neck cell (CL0000651)
    Fold Change: 2.27
    Marker Score: 5147
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 2.27
    Marker Score: 2299
  • Cell Name: unswitched memory B cell (CL0000970)
    Fold Change: 2.26
    Marker Score: 1327
  • Cell Name: stem cell (CL0000034)
    Fold Change: 2.26
    Marker Score: 5378
  • Cell Name: double negative T regulatory cell (CL0011024)
    Fold Change: 2.26
    Marker Score: 2182
  • Cell Name: primary sensory neuron (sensu Teleostei) (CL0000531)
    Fold Change: 2.26
    Marker Score: 758
  • Cell Name: IgA plasma cell (CL0000987)
    Fold Change: 2.25
    Marker Score: 1913

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Other Information

**Key characteristics:** - Type: Heterodimeric protein - Ensembl ID: ENSG00000152234 - Protein type: Enzyme - Function: ATP synthase activity - Subunits: A and B - Expression: Skeletal muscle satellite cell, mature gamma-delta T cell, cardiac muscle cell, CD14-positive, CD16-negative classical monocyte, mature alpha-beta T cell, myeloid dendritic cell, follicular B cell, pancreatic acinar cell, ventricular cardiac muscle cell, renal intercalated cell **Pathways and functions:** - Adp binding - Angiostatin binding - Atp binding - Atp hydrolysis activity - Cristae formation - Formation of ATP by chemiosmotic coupling - Metabolism - Metabolism of proteins - Mhc class i protein binding - Mitochondrial biogenesis - Mitochondrial protein degradation - Mitochondrial protein import - Organelle biogenesis and maintenance - Protease binding - Protein binding - Protein localization - Proton-transporting atp synthase activity - Rotational mechanism - Respiratory electron transport - ATP synthesis by chemiosmotic coupling - Heat production by uncoupling proteins **Clinical significance:** Mutations in ATP5F1A have been linked to several human diseases, including mitochondrial disorders, cardiovascular disease, and cancer. These mutations can disrupt the function of the ATP synthase F1 subunit alpha, leading to cellular energy deficiencies and various health problems.

Genular Protein ID: 998937730

Symbol: ATPA_HUMAN

Name: N/A

UniProtKB Accession Codes:

P25705 A8K092 B4DY56 K7ENP3 Q53XX6 Q8IXV2 Q96FB4 Q96HW2 Q96IR6 Q9BTV8

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 3 CDD 3 CORUM 1 CPTAC 2 CTD 1 ChEBI 2 ChEMBL 1 ChiTaRS 1 ComplexPortal 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 6 EMBL 18 EMDB 8 EPD 1 Ensembl 4 ExpressionAtlas 1 GO 30 Gene3D 3 GeneCards 1 GeneTree 1 Genevisible 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HAMAP 1 HGNC 2 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 10 KEGG 1 MANE-Select 1 MIM 7 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 MetOSite 1 NCBI Taxonomy 1 NCBIfam 1 OGP 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 9 PDBsum 8 PIR 1 PIRSF 1 PRIDE 1 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 3 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 REPRODUCTION-2DPAGE 1 RNAct 1 Reactome 3 RefSeq 5 SIGNOR 1 SMR 1 STRING 1 SUPFAM 3 SignaLink 1 SwissPalm 1 TCDB 1 TopDownProteomics 1 TreeFam 1 UCD-2DPAGE 1 UCSC 1 UniProtKB 3 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 1830491

Title: Nucleotide sequence of a cDNA for the alpha subunit of human mitochondrial ATP synthase.

PubMed ID: 1830491

DOI: 10.1016/0167-4781(91)90183-m

PubMed ID: 8428659

Title: Amplification of the gene encoding the alpha-subunit of the mitochondrial ATP synthase complex in a human retinoblastoma cell line.

PubMed ID: 8428659

DOI: 10.1016/0378-1119(93)90124-l

PubMed ID: 8086450

Title: Gene structure and cell type-specific expression of the human ATP synthase alpha subunit.

PubMed ID: 8086450

DOI: 10.1016/0167-4781(94)90255-0

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16177791

Title: DNA sequence and analysis of human chromosome 18.

PubMed ID: 16177791

DOI: 10.1038/nature03983

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 19892738

Title: Global profiling of protease cleavage sites by chemoselective labeling of protein N-termini.

PubMed ID: 19892738

DOI: 10.1073/pnas.0908958106

PubMed ID: 7498159

Title: The major protein expression profile and two-dimensional protein database of human heart.

PubMed ID: 7498159

DOI: 10.1002/elps.11501601192

PubMed ID: 10077593

Title: Angiostatin binds ATP synthase on the surface of human endothelial cells.

PubMed ID: 10077593

DOI: 10.1073/pnas.96.6.2811

PubMed ID: 11410595

Title: Atp11p and Atp12p are assembly factors for the F(1)-ATPase in human mitochondria.

PubMed ID: 11410595

DOI: 10.1074/jbc.m104133200

PubMed ID: 14654843

Title: Proteomic characterization of the human centrosome by protein correlation profiling.

PubMed ID: 14654843

DOI: 10.1038/nature02166

PubMed ID: 19285951

Title: High affinity interaction between histidine-rich glycoprotein and the cell surface type ATP synthase on T-cells.

PubMed ID: 19285951

DOI: 10.1016/j.bbamem.2009.03.005

PubMed ID: 19608861

Title: Lysine acetylation targets protein complexes and co-regulates major cellular functions.

PubMed ID: 19608861

DOI: 10.1126/science.1175371

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 21406692

Title: System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.

PubMed ID: 21406692

DOI: 10.1126/scisignal.2001570

PubMed ID: 22309213

Title: Identification of a molecular component of the mitochondrial acetyl transferase program; a novel role for GCN5L1.

PubMed ID: 22309213

DOI: 10.1042/bj20120118

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 30146159

Title: Microbial Siderophore Enterobactin Promotes Mitochondrial Iron Uptake and Development of the Host via Interaction with ATP Synthase.

PubMed ID: 30146159

DOI: 10.1016/j.cell.2018.07.032

PubMed ID: 23599390

Title: A complex V ATP5A1 defect causes fatal neonatal mitochondrial encephalopathy.

PubMed ID: 23599390

DOI: 10.1093/brain/awt086

PubMed ID: 23596069

Title: Targeted exome sequencing of suspected mitochondrial disorders.

PubMed ID: 23596069

DOI: 10.1212/wnl.0b013e3182918c40

PubMed ID: 34483339

Title: A recurrent de novo ATP5F1A substitution associated with neonatal complex V deficiency.

PubMed ID: 34483339

DOI: 10.1038/s41431-021-00956-0

PubMed ID: 34954817

Title: Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes.

PubMed ID: 34954817

DOI: 10.1002/ana.26293

Sequence Information:

  • Length: 553
  • Mass: 59751
  • Checksum: AA47BBB8EDA77EAC
  • Sequence:
    • MLSVRVAAAV VRALPRRAGL VSRNALGSSF IAARNFHASN THLQKTGTAE MSSILEERIL 
GADTSVDLEE TGRVLSIGDG IARVHGLRNV QAEEMVEFSS GLKGMSLNLE PDNVGVVVFG 
NDKLIKEGDI VKRTGAIVDV PVGEELLGRV VDALGNAIDG KGPIGSKTRR RVGLKAPGII 
PRISVREPMQ TGIKAVDSLV PIGRGQRELI IGDRQTGKTS IAIDTIINQK RFNDGSDEKK 
KLYCIYVAIG QKRSTVAQLV KRLTDADAMK YTIVVSATAS DAAPLQYLAP YSGCSMGEYF 
RDNGKHALII YDDLSKQAVA YRQMSLLLRR PPGREAYPGD VFYLHSRLLE RAAKMNDAFG 
GGSLTALPVI ETQAGDVSAY IPTNVISITD GQIFLETELF YKGIRPAINV GLSVSRVGSA 
AQTRAMKQVA GTMKLELAQY REVAAFAQFG SDLDAATQQL LSRGVRLTEL LKQGQYSPMA 
IEEQVAVIYA GVRGYLDKLE PSKITKFENA FLSHVVSQHQ ALLGTIRADG KISEQSDAKL 
KEIVTNFLAG FEA

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.