Details for: ATP5MC3

Gene ID: 518

Symbol: ATP5MC3

Ensembl ID: ENSG00000154518

Description: ATP synthase membrane subunit c locus 3

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 309.7967
    Cell Significance Index: -127.6200
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 272.7460
    Cell Significance Index: -110.8100
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 259.4453
    Cell Significance Index: -122.4900
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 239.3342
    Cell Significance Index: -123.1100
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 183.0491
    Cell Significance Index: -122.8300
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 118.0841
    Cell Significance Index: -112.7400
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 30.7351
    Cell Significance Index: -82.3400
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 27.2216
    Cell Significance Index: -83.6100
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 5.6085
    Cell Significance Index: 44.7800
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 4.8379
    Cell Significance Index: 142.0900
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 4.4545
    Cell Significance Index: 93.2400
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 4.2462
    Cell Significance Index: 765.4600
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 4.0230
    Cell Significance Index: 284.5200
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: 3.9701
    Cell Significance Index: 43.1600
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 3.9119
    Cell Significance Index: 461.3300
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 3.8523
    Cell Significance Index: 473.6800
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 3.8443
    Cell Significance Index: 2099.4800
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 3.7428
    Cell Significance Index: 196.5100
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 3.4176
    Cell Significance Index: 159.3500
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 3.3471
    Cell Significance Index: 116.3100
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 3.3338
    Cell Significance Index: 30.7000
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 3.2071
    Cell Significance Index: 1417.9200
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 3.1284
    Cell Significance Index: 429.6100
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 2.9931
    Cell Significance Index: 81.4700
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 2.9848
    Cell Significance Index: 78.4900
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 2.9582
    Cell Significance Index: 37.8900
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 2.6590
    Cell Significance Index: 44.7900
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 2.4732
    Cell Significance Index: 319.5200
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 2.3196
    Cell Significance Index: 172.8800
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 2.2767
    Cell Significance Index: 107.0100
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 2.1181
    Cell Significance Index: 136.6500
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 1.6342
    Cell Significance Index: 324.3200
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 1.5253
    Cell Significance Index: 195.5300
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 1.4236
    Cell Significance Index: 64.5300
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 1.3670
    Cell Significance Index: 71.0100
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: 0.9949
    Cell Significance Index: 78.8000
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.9402
    Cell Significance Index: 689.3200
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.8453
    Cell Significance Index: 83.6200
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 0.8013
    Cell Significance Index: 14.8100
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.7759
    Cell Significance Index: 147.6500
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.7626
    Cell Significance Index: 52.7400
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: 0.6884
    Cell Significance Index: 7.8200
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.5212
    Cell Significance Index: 104.5600
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 0.5187
    Cell Significance Index: 27.0200
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 0.4035
    Cell Significance Index: 4.8100
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.3243
    Cell Significance Index: 20.4400
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: 0.2843
    Cell Significance Index: 215.1800
  • Cell Name: basal cell of epidermis (CL0002187)
    Fold Change: 0.1132
    Cell Significance Index: 1.7200
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0727
    Cell Significance Index: 2.5600
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.0449
    Cell Significance Index: 1.2000
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0408
    Cell Significance Index: 14.6300
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.0230
    Cell Significance Index: 0.3900
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0217
    Cell Significance Index: -40.9200
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0277
    Cell Significance Index: -2.8300
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.0746
    Cell Significance Index: -2.3900
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0771
    Cell Significance Index: -142.1700
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0933
    Cell Significance Index: -143.6800
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.1084
    Cell Significance Index: -1.6000
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.1122
    Cell Significance Index: -152.5800
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: -0.1135
    Cell Significance Index: -1.7000
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.1252
    Cell Significance Index: -3.5000
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.1303
    Cell Significance Index: -82.7600
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.1328
    Cell Significance Index: -98.3900
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.1513
    Cell Significance Index: -7.6400
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.1942
    Cell Significance Index: -88.1200
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.1957
    Cell Significance Index: -110.3600
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.2197
    Cell Significance Index: -137.1700
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.2269
    Cell Significance Index: -38.7500
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.2554
    Cell Significance Index: -7.3200
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.3275
    Cell Significance Index: -13.4200
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.3301
    Cell Significance Index: -94.9900
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.4353
    Cell Significance Index: -49.8700
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.4494
    Cell Significance Index: -11.4800
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.4829
    Cell Significance Index: -37.0600
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.6291
    Cell Significance Index: -132.5000
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.6349
    Cell Significance Index: -92.2900
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.6532
    Cell Significance Index: -76.1200
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.6566
    Cell Significance Index: -14.2300
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: -0.6861
    Cell Significance Index: -111.5800
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.7077
    Cell Significance Index: -43.5000
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: -1.0614
    Cell Significance Index: -63.7200
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -1.1381
    Cell Significance Index: -118.5000
  • Cell Name: oral mucosa squamous cell (CL1001576)
    Fold Change: -1.1556
    Cell Significance Index: -9.9300
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -1.4256
    Cell Significance Index: -80.0000
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -1.4799
    Cell Significance Index: -43.5900
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: -1.9959
    Cell Significance Index: -16.7700
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -2.0173
    Cell Significance Index: -123.6800
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -2.1448
    Cell Significance Index: -36.7600
  • Cell Name: seromucus secreting cell (CL0000159)
    Fold Change: -2.1654
    Cell Significance Index: -45.1600
  • Cell Name: melanocyte of skin (CL1000458)
    Fold Change: -2.1739
    Cell Significance Index: -30.4700
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -2.2742
    Cell Significance Index: -56.8500
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -2.3271
    Cell Significance Index: -31.7500
  • Cell Name: germ cell (CL0000586)
    Fold Change: -2.5130
    Cell Significance Index: -18.9800
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -2.6037
    Cell Significance Index: -115.1700
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -2.6233
    Cell Significance Index: -67.4300
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -2.8173
    Cell Significance Index: -29.1700
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: -2.8592
    Cell Significance Index: -50.5300
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -2.8710
    Cell Significance Index: -82.7200
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -2.8876
    Cell Significance Index: -106.0000
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -2.9442
    Cell Significance Index: -103.1400

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** * The ATP5MC3 gene encodes a subunit of the mitochondrial proton-transporting ATP synthase complex. * The gene is involved in the production of ATP through chemiosmotic coupling, a process that harnesses the energy from the proton gradient across the mitochondrial inner membrane. * The ATP5MC3 gene is significantly expressed in various cell types, including skeletal muscle, cardiac muscle, and pancreatic acinar cells. * The gene is also expressed in immune cells, such as CD14-low, CD16-positive monocytes and myeloid dendritic cells, suggesting a role in immune function. **Pathways and Functions:** The ATP5MC3 gene is involved in various cellular pathways, including: * **Cristae formation**: The ATP5MC3 gene is required for the formation of cristae, the infoldings of the mitochondrial inner membrane that increase the surface area for ATP production. * **Formation of ATP by chemiosmotic coupling**: The ATP5MC3 gene is essential for the production of ATP through chemiosmotic coupling, a process that harnesses the energy from the proton gradient across the mitochondrial inner membrane. * **Lipid binding**: The ATP5MC3 gene encodes a subunit that binds to lipids, which are essential for the functioning of the mitochondrial proton-transporting ATP synthase complex. * **Mitochondrial biogenesis and maintenance**: The ATP5MC3 gene is required for the biogenesis and maintenance of mitochondria, highlighting its importance in mitochondrial function and cellular energy metabolism. **Clinical Significance:** Dysregulation of the ATP5MC3 gene has been implicated in various diseases, including: * **Metabolic disorders**: Mutations in the ATP5MC3 gene have been associated with metabolic disorders, such as mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS). * **Cardiovascular diseases**: The ATP5MC3 gene has been implicated in cardiovascular diseases, such as heart failure and arrhythmias, highlighting its importance in cardiac energy metabolism. * **Neurodegenerative diseases**: The ATP5MC3 gene has been implicated in neurodegenerative diseases, such as Alzheimer's disease and Parkinson's disease, highlighting its importance in neuronal energy metabolism. In conclusion, the ATP5MC3 gene plays a crucial role in mitochondrial function and energy metabolism, and dysregulation of this gene has been implicated in various diseases. Further research is needed to fully understand the mechanisms by which the ATP5MC3 gene regulates mitochondrial function and to develop therapeutic strategies for the treatment of diseases associated with this gene.

Genular Protein ID: 2195643636

Symbol: AT5G3_HUMAN

Name: ATP synthase lipid-binding protein

UniProtKB Accession Codes:

P48201 B2R4Z0 D3DPF0 Q4ZFX7

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChiTaRS 1 ComplexPortal 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 6 Ensembl 3 GO 7 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyGen 1 HAMAP 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 5 KEGG 1 MANE-Select 1 MIM 3 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PIR 1 PRINTS 1 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 2 RefSeq 2 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TCDB 1 TopDownProteomics 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 7698763

Title: Sequence analysis and mapping of a novel human mitochondrial ATP synthase subunit 9 cDNA (ATP5G3).

PubMed ID: 7698763

DOI: 10.1006/geno.1994.1631

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15815621

Title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.

PubMed ID: 15815621

DOI: 10.1038/nature03466

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: 30530489

Title: Lysine methylation by the mitochondrial methyltransferase FAM173B optimizes the function of mitochondrial ATP synthase.

PubMed ID: 30530489

DOI: 10.1074/jbc.ra118.005473

PubMed ID: 33753518

Title: TMEM70 and TMEM242 help to assemble the rotor ring of human ATP synthase and interact with assembly factors for complex I.

PubMed ID: 33753518

DOI: 10.1073/pnas.2100558118

PubMed ID: 34636445

Title: A Novel Variant of ATP5MC3 Associated with Both Dystonia and Spastic Paraplegia.

PubMed ID: 34636445

DOI: 10.1002/mds.28821

PubMed ID: 34954817

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

PubMed ID: 34954817

DOI: 10.1002/ana.26293

Sequence Information:

  • Length: 142
  • Mass: 14693
  • Checksum: 19EC0D1710A0AA3F
  • Sequence:
    • MFACAKLACT PSLIRAGSRV AYRPISASVL SRPEASRTGE GSTVFNGAQN GVSQLIQREF 
QTSAISRDID TAAKFIGAGA ATVGVAGSGA GIGTVFGSLI IGYARNPSLK QQLFSYAILG 
FALSEAMGLF CLMVAFLILF AM

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. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.