Human Gene ATP5F1C (ENST00000335698.4) from GENCODE V44
  Description: Homo sapiens ATP synthase F1 subunit gamma (ATP5F1C), transcript variant 2, mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_005174)
RefSeq Summary (NM_001001973): This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the gamma subunit of the catalytic core. Alternatively spliced transcript variants encoding different isoforms have been identified. This gene also has a pseudogene on chromosome 14. [provided by RefSeq, Jul 2008].
Gencode Transcript: ENST00000335698.4
Gencode Gene: ENSG00000165629.20
Transcript (Including UTRs)
   Position: hg38 chr10:7,788,177-7,807,815 Size: 19,639 Total Exon Count: 9 Strand: +
Coding Region
   Position: hg38 chr10:7,788,208-7,807,662 Size: 19,455 Coding Exon Count: 9 

Page IndexSequence and LinksUniProtKB CommentsPrimersRNA-Seq ExpressionMicroarray Expression
RNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA DescriptionsPathways
Other NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr10:7,788,177-7,807,815)mRNA (may differ from genome)Protein (297 aa)
Gene SorterGenome BrowserOther Species FASTATable SchemaAlphaFoldBioGPS
EnsemblEntrez GeneExonPrimerGencodeGeneCardsLynx
MGIneXtProtOMIMPubMedReactomeUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: ATPG_HUMAN
DESCRIPTION: RecName: Full=ATP synthase subunit gamma, mitochondrial; AltName: Full=F-ATPase gamma subunit; Flags: Precursor;
FUNCTION: Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core, and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation. Part of the complex F(1) domain and the central stalk which is part of the complex rotary element. The gamma subunit protrudes into the catalytic domain formed of alpha(3)beta(3). Rotation of the central stalk against the surrounding alpha(3)beta(3) subunits leads to hydrolysis of ATP in three separate catalytic sites on the beta subunits.
SUBUNIT: F-type ATPases have 2 components, CF(1) - the catalytic core - and CF(0) - the membrane proton channel. CF(1) has five subunits: alpha(3), beta(3), gamma(1), delta(1), epsilon(1). CF(0) has three main subunits: a, b and c. Component of an ATP synthase complex composed of ATP5F1, ATP5G1, ATP5E, ATP5H, ATP5I, ATP5J, ATP5J2, MT-ATP6, MT-ATP8, ATP5A1, ATP5B, ATP5D, ATP5C1, ATP5O, ATP5L, USMG5 and MP68 (By similarity).
SUBCELLULAR LOCATION: Mitochondrion. Mitochondrion inner membrane; Peripheral membrane protein (By similarity).
TISSUE SPECIFICITY: Isoform Heart is expressed specifically in the heart and skeletal muscle, which require rapid energy supply. Isoform Liver is expressed in the brain, liver and kidney. Isoform Heart and Isoform Liver are expressed in the skin, intestine, stomach and aorta.
SIMILARITY: Belongs to the ATPase gamma chain family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 196.88 RPKM in Heart - Left Ventricle
Total median expression: 3029.13 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -5.1031-0.165 Picture PostScript Text
3' UTR -21.50153-0.141 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000131 - ATPase_F1-cplx_gsu
IPR023632 - ATPase_F1_gsu_CS
IPR023633 - ATPase_F1_gsu_dom

Pfam Domains:
PF00231 - ATP synthase

ModBase Predicted Comparative 3D Structure on P36542
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserGenome BrowserNo orthologGenome BrowserNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsembl WormBase 
Protein SequenceProtein SequenceProtein Sequence Protein Sequence 
AlignmentAlignmentAlignment Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003723 RNA binding
GO:0022857 transmembrane transporter activity
GO:0046933 proton-transporting ATP synthase activity, rotational mechanism
GO:0016887 ATPase activity

Biological Process:
GO:0006119 oxidative phosphorylation
GO:0006754 ATP biosynthetic process
GO:0006811 ion transport
GO:0015986 ATP synthesis coupled proton transport
GO:0042407 cristae formation
GO:0042776 mitochondrial ATP synthesis coupled proton transport
GO:0099132 ATP hydrolysis coupled cation transmembrane transport

Cellular Component:
GO:0000275 mitochondrial proton-transporting ATP synthase complex, catalytic core F(1)
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
GO:0005753 mitochondrial proton-transporting ATP synthase complex
GO:0005759 mitochondrial matrix
GO:0016020 membrane
GO:0043209 myelin sheath
GO:0045261 proton-transporting ATP synthase complex, catalytic core F(1)


-  Descriptions from all associated GenBank mRNAs
  LF383674 - JP 2014500723-A/191177: Polycomb-Associated Non-Coding RNAs.
MA619251 - JP 2018138019-A/191177: Polycomb-Associated Non-Coding RNAs.
BC000931 - Homo sapiens ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1, mRNA (cDNA clone MGC:5380 IMAGE:3445817), complete cds.
BC020824 - Homo sapiens ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1, mRNA (cDNA clone MGC:23897 IMAGE:4733791), complete cds.
AK292896 - Homo sapiens cDNA FLJ77909 complete cds, highly similar to Homo sapiens ATP synthase, H+ transporting, mitochondrial F1complex, gamma polypeptide 1 (ATP5C1), mRNA.
AK296803 - Homo sapiens cDNA FLJ59921 complete cds, highly similar to ATP synthase gamma chain, mitochondrial precursor (EC 3.6.3.14).
D16562 - Homo sapiens mRNA for ATP synthase gamma-subunit (L-type), complete cds.
D16563 - Homo sapiens mRNA for ATP synthase gamma-subunit (H-type), complete cds.
BC016812 - Homo sapiens ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1, mRNA (cDNA clone MGC:24478 IMAGE:4092259), complete cds.
AK129907 - Homo sapiens cDNA FLJ26397 fis, clone HRT08903, highly similar to ATP synthase gamma chain, mitochondrial precursor (EC 3.6.1.34).
AK294061 - Homo sapiens cDNA FLJ59861 complete cds, highly similar to ATP synthase gamma chain, mitochondrial precursor (EC 3.6.3.14).
BC010380 - Homo sapiens cDNA clone IMAGE:4093178, containing frame-shift errors.
BC000470 - Homo sapiens ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1, mRNA (cDNA clone MGC:8598 IMAGE:2961142), complete cds.
BC013394 - Homo sapiens ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1, mRNA (cDNA clone MGC:3592 IMAGE:2961142), complete cds.
BC013865 - Homo sapiens ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1, mRNA (cDNA clone IMAGE:3918347).
CU677727 - Synthetic construct Homo sapiens gateway clone IMAGE:100023409 5' read ATP5C1 mRNA.
HQ448142 - Synthetic construct Homo sapiens clone IMAGE:100071527; CCSB007522_01 ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1 (ATP5C1) gene, encodes complete protein.
KJ890734 - Synthetic construct Homo sapiens clone ccsbBroadEn_00128 ATP5C1 gene, encodes complete protein.
KJ896474 - Synthetic construct Homo sapiens clone ccsbBroadEn_05868 ATP5C1 gene, encodes complete protein.
CR457403 - Homo sapiens full open reading frame cDNA clone RZPDo834C0818D for gene ATP5C1, ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1; complete cds, incl. stopcodon.
BC026049 - Homo sapiens, clone IMAGE:4908447, mRNA, partial cds.
LF346102 - JP 2014500723-A/153605: Polycomb-Associated Non-Coding RNAs.
MA581679 - JP 2018138019-A/153605: Polycomb-Associated Non-Coding RNAs.
LF346101 - JP 2014500723-A/153604: Polycomb-Associated Non-Coding RNAs.
MA581678 - JP 2018138019-A/153604: Polycomb-Associated Non-Coding RNAs.
LF346100 - JP 2014500723-A/153603: Polycomb-Associated Non-Coding RNAs.
MA581677 - JP 2018138019-A/153603: Polycomb-Associated Non-Coding RNAs.
LF346099 - JP 2014500723-A/153602: Polycomb-Associated Non-Coding RNAs.
MA581676 - JP 2018138019-A/153602: Polycomb-Associated Non-Coding RNAs.
LF346098 - JP 2014500723-A/153601: Polycomb-Associated Non-Coding RNAs.
MA581675 - JP 2018138019-A/153601: Polycomb-Associated Non-Coding RNAs.
LF346097 - JP 2014500723-A/153600: Polycomb-Associated Non-Coding RNAs.
MA581674 - JP 2018138019-A/153600: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00190 - Oxidative phosphorylation
hsa01100 - Metabolic pathways
hsa05010 - Alzheimer's disease
hsa05012 - Parkinson's disease
hsa05016 - Huntington's disease

Reactome (by CSHL, EBI, and GO)

Protein P36542 (Reactome details) participates in the following event(s):

R-HSA-164840 ADP and Pi bind to ATPase
R-HSA-8949580 F1Fo ATP synthase dimerizes
R-HSA-164834 Enzyme-bound ATP is released
R-HSA-164832 ATPase synthesizes ATP
R-HSA-163210 Formation of ATP by chemiosmotic coupling
R-HSA-8949613 Cristae formation
R-HSA-163200 Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
R-HSA-1592230 Mitochondrial biogenesis
R-HSA-1428517 The citric acid (TCA) cycle and respiratory electron transport
R-HSA-1852241 Organelle biogenesis and maintenance
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: A8KA31, ATP5C, ATP5C1, ATP5CL1, ATPG_HUMAN, ENST00000335698.1, ENST00000335698.2, ENST00000335698.3, NM_005174, P36542, Q5VYP3, Q6I9V2, Q96AS8, uc001ijv.1, uc001ijv.2, uc001ijv.3, uc001ijv.4
UCSC ID: ENST00000335698.4
RefSeq Accession: NM_001001973
Protein: P36542 (aka ATPG_HUMAN)
CCDS: CCDS7081.1, CCDS31142.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.