Gene ATP5MC3 - ENSG00000154518 | NCBI Gene ID: 518

Details for: ATP5MC3

Gene ID: 518

Symbol: ATP5MC3

Ensembl ID: ENSG00000154518

Description: ATP synthase membrane subunit c locus 3

Associated with

Cristae formation
(R-HSA-8949613)
Formation of atp by chemiosmotic coupling
(R-HSA-163210)
Metabolism
(R-HSA-1430728)
Mitochondrial biogenesis
(R-HSA-1592230)
Organelle biogenesis and maintenance
(R-HSA-1852241)
Respiratory electron transport, atp synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
(R-HSA-163200)
The citric acid (tca) cycle and respiratory electron transport
(R-HSA-1428517)
Lipid binding
(GO:0008289)
Mitochondrial inner membrane
(GO:0005743)
Mitochondrial outer membrane
(GO:0005741)
Mitochondrial proton-transporting atp synthase complex
(GO:0005753)
Mitochondrial proton-transporting atp synthase complex, coupling factor f(o)
(GO:0000276)
Protein binding
(GO:0005515)
Proton motive force-driven atp synthesis
(GO:0015986)
Proton transmembrane transport
(GO:1902600)
Proton transmembrane transporter activity
(GO:0015078)

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: 7.45
Marker Score: 4981
Cell Name: cardiac muscle cell (CL0000746)
Fold Change: 4.97
Marker Score: 66091
Cell Name: pancreatic acinar cell (CL0002064)
Fold Change: 4.66
Marker Score: 9830.5
Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
Fold Change: 4.59
Marker Score: 3238
Cell Name: myeloid dendritic cell (CL0000782)
Fold Change: 4.58
Marker Score: 2780.5
Cell Name: cord blood hematopoietic stem cell (CL2000095)
Fold Change: 4.43
Marker Score: 3347
Cell Name: follicular B cell (CL0000843)
Fold Change: 4.36
Marker Score: 4728.5
Cell Name: ventricular cardiac muscle cell (CL2000046)
Fold Change: 4.15
Marker Score: 1724
Cell Name: renal intercalated cell (CL0005010)
Fold Change: 3.99
Marker Score: 2130.5
Cell Name: tracheobronchial smooth muscle cell (CL0019019)
Fold Change: 3.93
Marker Score: 1153
Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
Fold Change: 3.89
Marker Score: 10423
Cell Name: embryonic stem cell (CL0002322)
Fold Change: 3.78
Marker Score: 1209
Cell Name: extravillous trophoblast (CL0008036)
Fold Change: 3.65
Marker Score: 3253
Cell Name: mesodermal cell (CL0000222)
Fold Change: 3.62
Marker Score: 47802
Cell Name: erythroid progenitor cell (CL0000038)
Fold Change: 3.55
Marker Score: 3704
Cell Name: mesenchymal stem cell (CL0000134)
Fold Change: 3.5
Marker Score: 5394.5
Cell Name: epithelial cell of proximal tubule (CL0002306)
Fold Change: 3.5
Marker Score: 12414
Cell Name: fetal cardiomyocyte (CL0002495)
Fold Change: 3.44
Marker Score: 1132
Cell Name: colon epithelial cell (CL0011108)
Fold Change: 3.39
Marker Score: 10646
Cell Name: classical monocyte (CL0000860)
Fold Change: 3.37
Marker Score: 13986
Cell Name: CD8-positive, alpha-beta memory T cell (CL0000909)
Fold Change: 3.34
Marker Score: 2832
Cell Name: professional antigen presenting cell (CL0000145)
Fold Change: 3.31
Marker Score: 1710
Cell Name: kidney collecting duct intercalated cell (CL1001432)
Fold Change: 3.31
Marker Score: 5484
Cell Name: CD4-positive, alpha-beta thymocyte (CL0000810)
Fold Change: 3.3
Marker Score: 1840
Cell Name: mature T cell (CL0002419)
Fold Change: 3.26
Marker Score: 32329
Cell Name: kidney collecting duct principal cell (CL1001431)
Fold Change: 3.26
Marker Score: 8220
Cell Name: basal cell of epithelium of trachea (CL1000348)
Fold Change: 3.26
Marker Score: 24248
Cell Name: Kupffer cell (CL0000091)
Fold Change: 3.2
Marker Score: 3204
Cell Name: glycinergic neuron (CL1001509)
Fold Change: 3.18
Marker Score: 3837.5
Cell Name: basal cell of prostate epithelium (CL0002341)
Fold Change: 3.16
Marker Score: 7730
Cell Name: interstitial cell of ovary (CL0002094)
Fold Change: 3.16
Marker Score: 20529
Cell Name: CD8-alpha-alpha-positive, alpha-beta intraepithelial T cell (CL0000915)
Fold Change: 3.14
Marker Score: 4448
Cell Name: cell in vitro (CL0001034)
Fold Change: 3.14
Marker Score: 108821
Cell Name: blood cell (CL0000081)
Fold Change: 3.14
Marker Score: 36492
Cell Name: stratified epithelial cell (CL0000079)
Fold Change: 3.11
Marker Score: 24282
Cell Name: enterocyte (CL0000584)
Fold Change: 3.09
Marker Score: 14849
Cell Name: glycinergic amacrine cell (CL4030028)
Fold Change: 3.08
Marker Score: 2903
Cell Name: small pre-B-II cell (CL0000954)
Fold Change: 3.06
Marker Score: 3677.5
Cell Name: malignant cell (CL0001064)
Fold Change: 3.05
Marker Score: 40918.5
Cell Name: myeloid leukocyte (CL0000766)
Fold Change: 3.01
Marker Score: 3640
Cell Name: skeletal muscle satellite stem cell (CL0008011)
Fold Change: 2.99
Marker Score: 3191
Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
Fold Change: 2.97
Marker Score: 165952
Cell Name: radial glial cell (CL0000681)
Fold Change: 2.96
Marker Score: 1092
Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
Fold Change: 2.92
Marker Score: 3097.5
Cell Name: decidual natural killer cell, human (CL0002343)
Fold Change: 2.91
Marker Score: 8035
Cell Name: epithelial cell of urethra (CL1000296)
Fold Change: 2.91
Marker Score: 2289
Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
Fold Change: 2.84
Marker Score: 2885
Cell Name: enteric neuron (CL0007011)
Fold Change: 2.83
Marker Score: 1505
Cell Name: kidney connecting tubule epithelial cell (CL1000768)
Fold Change: 2.81
Marker Score: 3984
Cell Name: medullary thymic epithelial cell (CL0002365)
Fold Change: 2.81
Marker Score: 4607
Cell Name: epithelial cell (CL0000066)
Fold Change: 2.81
Marker Score: 4465
Cell Name: acinar cell of salivary gland (CL0002623)
Fold Change: 2.81
Marker Score: 6393
Cell Name: foveolar cell of stomach (CL0002179)
Fold Change: 2.8
Marker Score: 17877
Cell Name: pancreatic ductal cell (CL0002079)
Fold Change: 2.8
Marker Score: 2907
Cell Name: lung macrophage (CL1001603)
Fold Change: 2.79
Marker Score: 3195
Cell Name: lung secretory cell (CL1000272)
Fold Change: 2.79
Marker Score: 2490
Cell Name: tonsil germinal center B cell (CL2000006)
Fold Change: 2.79
Marker Score: 8273
Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
Fold Change: 2.78
Marker Score: 17744
Cell Name: CD14-positive, CD16-positive monocyte (CL0002397)
Fold Change: 2.77
Marker Score: 5397
Cell Name: kidney interstitial cell (CL1000500)
Fold Change: 2.77
Marker Score: 1969
Cell Name: intestine goblet cell (CL0019031)
Fold Change: 2.77
Marker Score: 2653
Cell Name: epithelial cell of esophagus (CL0002252)
Fold Change: 2.75
Marker Score: 23703
Cell Name: centroblast (CL0009112)
Fold Change: 2.75
Marker Score: 1354
Cell Name: pro-T cell (CL0000827)
Fold Change: 2.74
Marker Score: 11197
Cell Name: alveolar macrophage (CL0000583)
Fold Change: 2.72
Marker Score: 69707
Cell Name: type II pneumocyte (CL0002063)
Fold Change: 2.72
Marker Score: 17716.5
Cell Name: B-1 B cell (CL0000819)
Fold Change: 2.71
Marker Score: 4724
Cell Name: epithelial cell of nephron (CL1000449)
Fold Change: 2.71
Marker Score: 5655.5
Cell Name: GABAergic amacrine cell (CL4030027)
Fold Change: 2.7
Marker Score: 5490
Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
Fold Change: 2.68
Marker Score: 10342
Cell Name: unswitched memory B cell (CL0000970)
Fold Change: 2.68
Marker Score: 1571.5
Cell Name: neuroblast (sensu Vertebrata) (CL0000031)
Fold Change: 2.67
Marker Score: 1679
Cell Name: late pro-B cell (CL0002048)
Fold Change: 2.67
Marker Score: 3147.5
Cell Name: mature gamma-delta T cell (CL0000800)
Fold Change: 2.65
Marker Score: 8350
Cell Name: Sertoli cell (CL0000216)
Fold Change: 2.64
Marker Score: 15666.5
Cell Name: hematopoietic cell (CL0000988)
Fold Change: 2.64
Marker Score: 1754
Cell Name: smooth muscle cell (CL0000192)
Fold Change: 2.64
Marker Score: 1735
Cell Name: supporting cell (CL0000630)
Fold Change: 2.63
Marker Score: 4934
Cell Name: retinal rod cell (CL0000604)
Fold Change: 2.59
Marker Score: 7399
Cell Name: Unknown (CL0000548)
Fold Change: 2.59
Marker Score: 1884
Cell Name: stromal cell of ovary (CL0002132)
Fold Change: 2.58
Marker Score: 29113
Cell Name: microfold cell of epithelium of small intestine (CL1000353)
Fold Change: 2.58
Marker Score: 617
Cell Name: naive thymus-derived CD8-positive, alpha-beta T cell (CL0000900)
Fold Change: 2.58
Marker Score: 4613
Cell Name: enterocyte of colon (CL1000347)
Fold Change: 2.57
Marker Score: 3967
Cell Name: granulosa cell (CL0000501)
Fold Change: 2.57
Marker Score: 25887
Cell Name: decidual cell (CL2000002)
Fold Change: 2.57
Marker Score: 11071
Cell Name: chondrocyte (CL0000138)
Fold Change: 2.57
Marker Score: 1155
Cell Name: Mueller cell (CL0000636)
Fold Change: 2.56
Marker Score: 3551
Cell Name: eukaryotic cell (CL0000255)
Fold Change: 2.55
Marker Score: 1312.5
Cell Name: peripheral nervous system neuron (CL2000032)
Fold Change: 2.55
Marker Score: 2860
Cell Name: serous secreting cell (CL0000313)
Fold Change: 2.55
Marker Score: 1016
Cell Name: thyroid follicular cell (CL0002258)
Fold Change: 2.54
Marker Score: 1992
Cell Name: enteric smooth muscle cell (CL0002504)
Fold Change: 2.54
Marker Score: 5967
Cell Name: megakaryocyte (CL0000556)
Fold Change: 2.53
Marker Score: 1439
Cell Name: oogonial cell (CL0000024)
Fold Change: 2.53
Marker Score: 3641
Cell Name: neural crest cell (CL0011012)
Fold Change: 2.53
Marker Score: 2705.5
Cell Name: pneumocyte (CL0000322)
Fold Change: 2.53
Marker Score: 4060
Cell Name: mucous neck cell (CL0000651)
Fold Change: 2.52
Marker Score: 5725
Cell Name: ovarian surface epithelial cell (CL2000064)
Fold Change: 2.52
Marker Score: 6854
Cell Name: migratory enteric neural crest cell (CL0002607)
Fold Change: 2.5
Marker Score: 2355

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**Key characteristics:** * ATP5MC3 is a transmembrane protein with a molecular weight of approximately 120 kDa. * It is expressed in a variety of cell types, including skeletal muscle satellite cells, cardiac muscle cells, pancreatic acinar cells, CD14-low and CD16-positive monocytes, myeloid dendritic cells, cord blood hematopoietic stem cells, follicular B cells, ventricular cardiac muscle cells, renal intercalated cells, and tracheobronchial smooth muscle cells. * It is a key enzyme in the citric acid (tca) cycle and respiratory electron transport. **Pathways and functions:** * ATP5MC3 is involved in the formation of ATP through chemiosmotic coupling. * It is also involved in the regulation of mitochondrial biogenesis, respiratory electron transport, and heat production. * In the citric acid cycle, ATP5MC3 is responsible for the phosphorylation of ADP to ATP. * In the respiratory electron transport chain, ATP5MC3 is involved in the transfer of protons from NADH and FADH2 to oxygen. * In heat production, ATP5MC3 is involved in the uncoupling of cytochrome c from the electron transport chain, which generates ATP through the ATP synthase complex. **Clinical significance:** * Mutations in ATP5MC3 have been linked to several human diseases, including mitochondrial myopathy, lactic acidosis, and congestive heart failure. * These diseases are caused by mutations in genes that encode proteins involved in mitochondrial biogenesis, respiratory electron transport, or heat production. * Targeting ATP5MC3 with drugs is a promising therapeutic strategy for these diseases.

Disclaimer: This summary is generated by an AI language model and may contain inaccuracies or hallucinations. However, it is cross-referenced with curated gene expression data from major biological sources. Please verify the information before use.

ATP synthase lipid-binding protein

Genular Protein ID: 2195643636

Symbol: AT5G3_HUMAN

Name: ATP synthase lipid-binding protein

UniProtKB Accession Codes:

P48201 B2R4Z0 D3DPF0 Q4ZFX7

Database IDs:

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. For the full schema, download it here.

Details for: ATP5MC3

Associated with

Cells (max top 100)

Other Information

Sequence analysis and mapping of a novel human mitochondrial ATP synthase subunit 9 cDNA (ATP5G3). PubMed ID: 7698763

Complete sequencing and characterization of 21,243 full-length human cDNAs. PubMed ID: 14702039

Generation and annotation of the DNA sequences of human chromosomes 2 and 4. PubMed ID: 15815621

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). PubMed ID: 15489334

Lysine methylation by the mitochondrial methyltransferase FAM173B optimizes the function of mitochondrial ATP synthase. PubMed ID: 30530489

TMEM70 and TMEM242 help to assemble the rotor ring of human ATP synthase and interact with assembly factors for complex I. PubMed ID: 33753518

A Novel Variant of ATP5MC3 Associated with Both Dystonia and Spastic Paraplegia. PubMed ID: 34636445

Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes. PubMed ID: 34954817