Human Gene ATP5G1 (uc002ioh.3) Description and Page Index
  Description: Homo sapiens ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C1 (subunit 9) (ATP5G1), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.
RefSeq Summary (NM_001002027): 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 seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene is one of three genes that encode subunit c of the proton channel. Each of the three genes have distinct mitochondrial import sequences but encode the identical mature protein. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008].
Transcript (Including UTRs)
   Position: hg19 chr17:46,970,148-46,973,232 Size: 3,085 Total Exon Count: 5 Strand: +
Coding Region
   Position: hg19 chr17:46,970,780-46,973,131 Size: 2,352 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr17:46,970,148-46,973,232)mRNA (may differ from genome)Protein (136 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
PubMedReactomeStanford SOURCETreefamUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=ATP synthase lipid-binding protein, mitochondrial; AltName: Full=ATP synthase proteolipid P1; AltName: Full=ATPase protein 9; AltName: Full=ATPase subunit c; 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(0) domain. A homomeric c-ring of probably 10 subunits is part of the complex rotary element.
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 membrane; Multi-pass membrane protein.
MISCELLANEOUS: There are three genes which encode the mitochondrial ATP synthase proteolipid and they specify precursors with different import sequences but identical mature proteins. Is the major protein stored in the storage bodies of animals or humans affected with ceroid lipofuscinosis (Batten disease).
SIMILARITY: Belongs to the ATPase C chain family.

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): ATP5G1
CDC HuGE Published Literature: ATP5G1

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 141.38 RPKM in Heart - Left Ventricle
Total median expression: 2259.14 RPKM

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

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -14.3064-0.223 Picture PostScript Text
3' UTR -30.30101-0.300 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
IPR000454 - ATPase_F0-cplx_csu
IPR020537 - ATPase_F0-cplx_csu_DDCD_BS
IPR002379 - ATPase_F0/V0-cplx_csu

Pfam Domains:
PF00137 - ATP synthase subunit C

SCOP Domains:
81333 - F1F0 ATP synthase subunit C

ModBase Predicted Comparative 3D Structure on P05496
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
No orthologGenome BrowserNo orthologNo orthologGenome BrowserNo ortholog
Gene DetailsGene Details  Gene Details 
Gene SorterGene Sorter  Gene Sorter 
 RGD  WormBase 
 Protein Sequence  Protein Sequence 
 Alignment  Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005215 transporter activity
GO:0005515 protein binding
GO:0008289 lipid binding
GO:0015078 hydrogen ion transmembrane transporter activity
GO:0046933 proton-transporting ATP synthase activity, rotational mechanism

Biological Process:
GO:0006754 ATP biosynthetic process
GO:0006811 ion transport
GO:0015986 ATP synthesis coupled proton transport
GO:0015991 ATP hydrolysis coupled proton transport
GO:0042407 cristae formation

Cellular Component:
GO:0000276 mitochondrial proton-transporting ATP synthase complex, coupling factor F(o)
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
GO:0005753 mitochondrial proton-transporting ATP synthase complex
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0031966 mitochondrial membrane
GO:0033177 proton-transporting two-sector ATPase complex, proton-transporting domain
GO:0045263 proton-transporting ATP synthase complex, coupling factor F(o)

-  Descriptions from all associated GenBank mRNAs
  AK095669 - Homo sapiens cDNA FLJ38350 fis, clone FEBRA1000088.
AL080089 - Homo sapiens mRNA; cDNA DKFZp564L2362 (from clone DKFZp564L2362).
AK311848 - Homo sapiens cDNA, FLJ92113, Homo sapiens ATP synthase, H+ transporting, mitochondrial F0complex, subunit c (subunit 9), isoform 1 (ATP5G1), mRNA.
D13118 - Homo sapiens P1 mRNA for ATP synthase subunit c, complete cds.
BC004963 - Homo sapiens ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C1 (subunit 9), mRNA (cDNA clone MGC:1359 IMAGE:3536694), complete cds.
KJ896476 - Synthetic construct Homo sapiens clone ccsbBroadEn_05870 ATP5G1 gene, encodes complete protein.
AB528070 - Synthetic construct DNA, clone: pF1KE0109, Homo sapiens ATP5G1 gene for ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C1, without stop codon, in Flexi system.
AM393437 - Synthetic construct Homo sapiens clone IMAGE:100001680 for hypothetical protein (ATP5G1 gene).
BT007230 - Homo sapiens ATP synthase, H+ transporting, mitochondrial F0 complex, subunit c (subunit 9), isoform 1 mRNA, complete cds.
CR533449 - Homo sapiens full open reading frame cDNA clone RZPDo834F1216D for gene ATP5G1, ATP synthase, H+ transporting, mitochondrial F0 complex, subunit c (subunit 9), isoform 1; complete cds, incl. stopcodon.
M16453 - Human mitochondrial ATPase subunit 9 mRNA, 3' end, clone HUM1.

-  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 P05496 (Reactome details) participates in the following event(s):

R-HSA-1299482 TIMM23 SORT inserts proteins into inner membrane
R-HSA-1299487 Precursor proteins enter TIMM23 SORT
R-HSA-1268022 TOMM40 complex translocates proteins from the cytosol to the mitochondrial intermembrane space
R-HSA-1299476 MPP cleaves targeting peptide (presequence) of inner membrane precursors
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-1268020 Mitochondrial protein import
R-HSA-163210 Formation of ATP by chemiosmotic coupling
R-HSA-8949613 Cristae formation
R-HSA-392499 Metabolism of proteins
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: AT5G1_HUMAN, NM_001002027, NP_005166, P05496
UCSC ID: uc002ioh.3
RefSeq Accession: NM_001002027
Protein: P05496 (aka AT5G1_HUMAN or AT91_HUMAN)
CCDS: CCDS11539.1

-  Gene Model Information
category: coding nonsense-mediated-decay: no RNA accession: NM_001002027.1
exon count: 5CDS single in 3' UTR: no RNA size: 593
ORF size: 411CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1019.00frame shift in genome: no % Coverage: 96.96
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
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-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.