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ATP5G3 Gene

protein-coding   GIFtS: 62
GCID: GC02M176040

ATP Synthase, H+ Transporting, Mitochondrial Fo Complex,...

(Previous names: ATP synthase, H+ transporting, mitochondrial F0 complex,...)
  See ATP5G3-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
ATP Synthase, H+ Transporting, Mitochondrial Fo Complex, Subunit C3
(Subunit 9)1 2
     P32
ATP Synthase, H+ Transporting, Mitochondrial F0 Complex, Subunit C3
(Subunit 9)1 2
     ATP Synthase F(0) Complex Subunit C3, Mitochondrial2
ATPase Subunit C2 3     ATP Synthase Lipid-Binding Protein, Mitochondrial2
ATP Synthase Proteolipid P32 3     ATP Synthase Subunit 92
ATP Synthase Proton-Transporting Mitochondrial F(0) Complex Subunit C32 3     ATP Synthase, Mitochondrial, C Subunit-32
ATPase Protein 92 3     ATP Synthase Lipid-Binding Protein3
ATP Synthase, H+ Transporting, Mitochondrial F0 Complex, Subunit C
(Subunit 9) Isoform 31
     

External Ids:    HGNC: 8431   Entrez Gene: 5182   Ensembl: ENSG000001545187   OMIM: 6027365   UniProtKB: P482013   

Export aliases for ATP5G3 gene to outside databases

Previous GC identifers: GC02M174095 GC02M174704 GC02M176005 GC02M176245 GC02M175868 GC02M175750 GC02M167922


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for ATP5G3 Gene:
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 different proteins have been identified. (provided by RefSeq,
Jun 2010)

GeneCards Summary for ATP5G3 Gene:
ATP5G3 (ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C3 (subunit 9)) is a protein-coding gene. Diseases associated with ATP5G3 include spindle cell hemangioma. GO annotations related to this gene include hydrogen ion transmembrane transporter activity and transporter activity. An important paralog of this gene is ATP5G2.

UniProtKB/Swiss-Prot: AT5G3_HUMAN, P48201
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

Gene Wiki entry for ATP5G3 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000002.11  NC_018913.2  NT_005403.18  
Regulatory elements:
   Regulatory transcription factor binding sites in the ATP5G3 gene promoter:
         AREB6   FAC1   ATF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidATP5G3 promoter sequence
   Search Chromatin IP Primers for ATP5G3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ATP5G3


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2q31.1   Ensembl cytogenetic band:  2q31.1   HGNC cytogenetic band: 2q31.1

ATP5G3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ATP5G3 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M176040:  view genomic region     (about GC identifiers)

Start:
176,040,986 bp from pter      End:
176,049,335 bp from pter
Size:
8,350 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: AT5G3_HUMAN, P48201 (See protein sequence)
Recommended Name: ATP synthase F(0) complex subunit C3, mitochondrial precursor  
Size: 142 amino acids; 14693 Da
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
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)
Secondary accessions: B2R4Z0 D3DPF0 Q4ZFX7

Explore the universe of human proteins at neXtProt for ATP5G3: NX_P48201

Explore proteomics data for ATP5G3 at MOPED


See ATP5G3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (3 alternative transcripts): 
NP_001002258.1  NP_001177258.1  NP_001680.1  

ENSEMBL proteins: 
 ENSP00000284727   ENSP00000387317   ENSP00000376324  
Reactome Protein details: P48201

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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HGNC Gene Families:
FATP: Mitochondrial respiratory chain complex / Complex V
F1ATP: ATPases / F-type

IUPHAR Guide to PHARMACOLOGY protein family classification: C
F-type ATPase

3 InterPro protein domains:
 IPR002379 ATPase_proteolipid_c_like_dom
 IPR000454 ATPase_F0-cplx_csu
 IPR020537 ATPase_F0-cplx_csu_DDCD_BS

Graphical View of Domain Structure for InterPro Entry P48201

ProtoNet protein and cluster: P48201

1 Blocks protein domain: IPB000454 Eubacterial/plasma membrane H+-transporting two-sector ATPase

UniProtKB/Swiss-Prot: AT5G3_HUMAN, P48201
Similarity: Belongs to the ATPase C chain family


Find genes that share domains with ATP5G3           About GenesLikeMe


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

     UniProtKB/Swiss-Prot Summary: AT5G3_HUMAN, P48201
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

     Genatlas biochemistry entry for ATP5G3:
ATP synthase,H+ transporting,inner mitochondrial membrane (F0 segment),subunit C,isoform 3complex V of oxidative
phosphorylation (OXPHOS)

     Gene Ontology (GO): 3 molecular function terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005215transporter activity NAS7698763
GO:0008289lipid binding IEA--
GO:0015078hydrogen ion transmembrane transporter activity IEA--
     
Find genes that share ontologies with ATP5G3           About GenesLikeMe


Phenotypes:
     2 GenomeRNAi human phenotypes for ATP5G3:
 G2 arrest  Increased S DNA content 

Animal Models:
   inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ATP5G3
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miRNA
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miRTarBase miRNAs that target ATP5G3:
hsa-mir-1260b (MIRT052772), hsa-mir-103a-3p (MIRT027079), hsa-mir-744-5p (MIRT037526), hsa-mir-16-5p (MIRT031794), hsa-mir-92b-3p (MIRT040568), hsa-mir-877-5p (MIRT037369)

Block miRNA regulation of human, mouse, rat ATP5G3 using miScript Target Protectors
Selected qRT-PCR Assays for microRNAs that regulate ATP5G3 (see all 16):
hsa-miR-4311 hsa-miR-4328 hsa-miR-139-5p hsa-miR-128 hsa-miR-186 hsa-miR-889 hsa-miR-205* hsa-miR-203
SwitchGear 3'UTR luciferase reporter plasmidATP5G3 3' UTR sequence
Inhib. RNA
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GenScript: all cDNA clones in your preferred vector (see all 3): ATP5G3 (NM_001689)
Sino Biological Human cDNA Clone for ATP5G3
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Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ATP5G3

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In Situ Assay
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATP5G3


(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
AT5G3_HUMAN, P48201: Mitochondrion membrane; Multi-pass membrane protein
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
mitochondrion5
extracellular1
plasma membrane1
vacuole1

Gene Ontology (GO): 5 cellular component terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005739mitochondrion ----
GO:0005753mitochondrial proton-transporting ATP synthase complex TAS7698763
GO:0016021integral component of membrane IEA--
GO:0033177proton-transporting two-sector ATPase complex, proton-transporting domain ----
GO:0045263proton-transporting ATP synthase complex, coupling factor F(o) IEA--

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(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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SuperPaths for ATP5G3 About    
See pathways by source

SuperPathContained pathways About
1Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
Electron Transport Chain0.75
Oxidative phosphorylation0.51
Oxidative phosphorylation0.64
Huntington's disease0.45
Parkinson's disease0.57
2Alzheimer's disease
Alzheimer's disease0.44
3Metabolism
Metabolic pathways0.38


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Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways


2 BioSystems Pathways for ATP5G3
    Oxidative phosphorylation
Electron Transport Chain


1 Reactome Pathway for ATP5G3
    Formation of ATP by chemiosmotic coupling


5 Kegg Pathways  (Kegg details for ATP5G3):
    Oxidative phosphorylation
Metabolic pathways
Alzheimer's disease
Parkinson's disease
Huntington's disease

    Pathway & Disease-focused RT2 Profiler PCR Array including ATP5G3: 
          Mitochondrial Energy Metabolism in human mouse rat

Interactions:

    Search GeneGlobe Interaction Network for ATP5G3

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

Selected Interacting proteins for ATP5G3 (P482011, 2, 3 ENSP000002847274) via UniProtKB, MINT, STRING, and/or I2D (see all 65)
InteractantInteraction Details
GeneCardExternal ID(s)
ABHD16AO958701, 2, 3, ENSP000003792824EBI-347797,EBI-348517 MINT-62782 MINT-62608 MINT-62706 I2D: score=5 STRING: ENSP00000379282
ENSG00000236063O958701, 2, 3, ENSP000004069654EBI-347797,EBI-348517 MINT-62782 MINT-62608 MINT-62706 I2D: score=5 STRING: ENSP00000406965
ENSG00000206403O958701, 2, 3EBI-347797,EBI-348517 MINT-62782 MINT-62608 MINT-62706 I2D: score=5 
ENSG00000224552O958701, 2, 3EBI-347797,EBI-348517 MINT-62782 MINT-62608 MINT-62706 I2D: score=5 
ENSG00000230475O958701, 2, 3EBI-347797,EBI-348517 MINT-62782 MINT-62608 MINT-62706 I2D: score=5 
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Gene Ontology (GO): 2 biological process terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0015986ATP synthesis coupled proton transport IEA--
GO:0015991ATP hydrolysis coupled proton transport IEA--

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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for ATP5G3 (AT5G3)

4 HMDB Compounds for ATP5G3    About this table
CompoundSynonyms CAS #PubMed Ids
ADPadenosindiphosphorsaeure (see all 8)58-64-0--
Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
PhosphateNFB Orthophosphate (see all 13)14265-44-2--
WaterDihydrogen oxide (see all 2)7732-18-5--



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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REFSEQ mRNAs for ATP5G3 gene (3 alternative transcripts): 
NM_001002258.4  NM_001190329.1  NM_001689.4  

Unigene Cluster for ATP5G3:

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C3 (subunit 9)
Hs.429  [show with all ESTs]
Unigene Representative Sequence: NM_001190329
5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000284727(uc002ujz.4 uc002uka.4 uc002ukb.2) ENST00000409194
ENST00000392541 ENST00000497075 ENST00000472782
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hsa-miR-4311 hsa-miR-4328 hsa-miR-139-5p hsa-miR-128 hsa-miR-186 hsa-miR-889 hsa-miR-205* hsa-miR-203
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GenScript: all cDNA clones in your preferred vector (see all 3): ATP5G3 (NM_001689)
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Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ATP5G3
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  QuantiFast Probe-based Assays in human, mouse, rat ATP5G3

Additional mRNA sequence: 

AK311999.1 BC106881.2 CR407601.1 U09813.1 

19 DOTS entries:

DT.100040590  DT.100845684  DT.97806379  DT.95357090  DT.99952514  DT.95357088  DT.120934622  DT.100044173 
DT.100845683  DT.100845676  DT.92449104  DT.100845687  DT.102828319  DT.120934620  DT.92449081  DT.95357095 
DT.110834  DT.91922001  DT.92449085 

Selected AceView cDNA sequences (see all 600):

AA345017 AI358074 AA088451 BX379654 BU786288 AA477100 CB070136 CA413188 
CA424381 CB045451 NM_001689 AA158981 AA782733 AI421860 BQ051080 CA942530 
NM_001002256 AI336156 BM971917 BM818151 N73359 R80834 AI784600 AI369296 

GeneLoc Exon Structure

Selected Alternative Splicing Database (ASD) splice patterns (SP) for ATP5G3 (see all 6)    About this scheme

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b · 2c · 2d ^ 3 ^ 4a · 4b ^ 5a · 5b
SP1:                          -     -                             -               
SP2:                          -                                   -               
SP3:                          -     -                                             
SP4:                                                              -               
SP5:                                            -                 -               


ECgene alternative splicing isoforms for ATP5G3

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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ATP5G3 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: GGAATGTACG
ATP5G3 Expression
About this image


ATP5G3 expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database
 selected tissues (see all 4) fully expand
 
 Brain (Nervous System)    fully expand to see all 3 entries
         Cerebral Cortex
 
 Lung (Respiratory System)
         Trachea
 
 Eye (Sensory Organs)
         Lens
 
 Neural Tube (Nervous System)
         Telencephalon
ATP5G3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

ATP5G3 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.429
    Pathway & Disease-focused RT2 Profiler PCR Array including ATP5G3: 
          Mitochondrial Energy Metabolism in human mouse rat

Primer
Products:
OriGene qPCR primer pairs and template standards for ATP5G3
OriGene qSTAR qPCR primer pairs in human, mouse for ATP5G3
Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ATP5G3
QuantiTect SYBR Green Assays in human, mouse, rat ATP5G3
QuantiFast Probe-based Assays in human, mouse, rat ATP5G3
In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATP5G3

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of animals and fungi.

Orthologs for ATP5G3 gene from Selected species (see all 18)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Atp5g31 , 5 ATP synthase, H+ transporting, mitochondrial F0 complex, more1, 5 95.98(n)1
95.74(a)1
  2 (43.90 cM)5
2280331  NM_175015.21  NP_778180.11 
 739084475 
chicken
(Gallus gallus)
Aves ATP5G31 ATP synthase, H+ transporting, mitochondrial Fo complex, more 83.92(n)
89.36(a)
  424142  NM_001277855.1  NP_001264784.1 
lizard
(Anolis carolinensis)
Reptilia --
--
Uncharacterized protein
80(a)
74(a)
1 ↔ many
1 ↔ many
GL343377.1(359290-366274)
4(142032254-142032936)
African clawed frog
(Xenopus laevis)
Amphibia BC041245.12   -- 85.16(n)    BC041245.1 
zebrafish
(Danio rerio)
Actinopterygii BC047199.12   -- 77.73(n)   394151  BC047199.1 
fruit fly
(Drosophila melanogaster)
Insecta CG17466
--
63(a)
1 → many
3R(27041867-27045352)
worm
(Caenorhabditis elegans)
Secernentea Y82E9BR.36
Protein Y82E9BR.3 (Y82E9BR.3) mRNA, complete cds
63(a)
1 → many
III(1419196-1419914) WBGene00022336
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes OLI1(Q0130)4 F0-ATP synthase subunit c (ATPase-associated proteolipid), more   --   17(46723-46953) 854584  NP_009319.1 


ENSEMBL Gene Tree for ATP5G3 (if available)
TreeFam Gene Tree for ATP5G3 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for ATP5G3 gene
ATP5G22  ATP5G12  
3 SIMAP similar genes for ATP5G3 using alignment to 2 protein entries:     AT5G3_HUMAN (see all proteins):
ATP5A    ATP5G2    ATP5G1

Find genes that share paralogs with ATP5G3           About GenesLikeMe


2 Pseudogenes.org Pseudogenes for ATP5G3
PGOHUM00000243990 PGOHUM00000243053


(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for ATP5G3 (see all 214)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 2 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs788132061,2
F--176040501(+) TCTTAT/ACAACA 3 -- ds5001 int11Minor allele frequency- A:0.01WA 118
rs2682191,2
C,F,H--176040543(+) TAGTAT/CCTTTA 3 -- ds5001 int117Minor allele frequency- C:0.02NS EA NA WA CSA 796
rs1123194771,2
F--176040567(+) AGAAAC/TGAAGA 3 -- ds5001 int11Minor allele frequency- T:0.50CSA 2
rs101964971,2
C,F,H--176040573(+) GAAGAT/CGTCAG 3 -- ds5001 int15Minor allele frequency- C:0.06NS WA NA EA 590
rs2682201,2
C,H--176040595(+) TAGCAT/CTAATA 3 -- ds5001 int114Minor allele frequency- C:0.03EA NA WA CSA 312
rs2682211,2
C,F,H--176040651(+) TGGTGC/TACAAT 3 -- ds5001 int119Minor allele frequency- T:0.03EA NA NS WA CSA 819
rs1383929761,2
--176040882(+) CATTTG/TCATTC 3 -- ds5001 int10--------
rs610536061,2
--176041022(+) ACTTGA/GAATAG 3 -- ut310--------
rs1487077471,2
C--176041064(+) TTTTAA/GAATTT 3 -- ut310--------
rs1139921461,2
C--176041093(+) TAAAT-/AGTA  
 C
/CAGTA
AGTAG
6 -- ut311CSA 2

HapMap Linkage Disequilibrium report for ATP5G3 (176040986 - 176049335 bp)

Structural Variations
     Database of Genomic Variants (DGV) 1 variation for ATP5G3:    About this table    
Variant IDTypeSubtypePubMed ID
nsv3044CNV Loss18451855

Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing ATP5G3
DNA2.0 Custom Variant and Variant Library Synthesis for ATP5G3

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 602736    OMIM disorders: --

1 disease for ATP5G3:    
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spindle cell hemangioma

2 diseases from the University of Copenhagen DISEASES database for ATP5G3:
Spindle cell hemangioma     Neuronal ceroid lipofuscinosis

Find genes that share disorders with ATP5G3           About GenesLikeMe

Genetic Association Database (GAD): ATP5G3
Human Genome Epidemiology (HuGE) Navigator: ATP5G3 (1 document)

Export disorders for ATP5G3 gene to outside databases

(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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PubMed articles for ATP5G3 gene, integrated from 10 sources (see all 16):
(articles sorted by number of sources associating them with ATP5G3)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Sequence analysis and mapping of a novel human mitochondrial ATP synthase subunit 9 cDNA (ATP5G3). (PubMed id 7698763)1, 2, 3, 9 Yan W.L.... Gusella J.F. (Genomics 1994)
  2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
  3. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)1, 2 Hillier L.W.... Wilson R.K. (Nature 2005)
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
  5. Methods for quantification of in vivo changes in protein ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (amp 2012)
  6. Identification of VKORC1 interaction partners by split-ubiquitin system and coimmunoprecipitation. (PubMed id 21103663)1 Schaafhausen A....MA1ller C.R. (Thromb. Haemost. 2011)
  7. Molecular motors: turning the ATP motor. (PubMed id 14749816)1 Cross R.L. (Nature 2004)
  8. Analysis of a high-throughput yeast two-hybrid system and its use to predict the function of intracellular proteins encoded within the human MHC class III region. (PubMed id 14667819)1 Lehner B....Sanderson C.M. (Genomics 2004)
  9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (Nat. Genet. 2004)
  10. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 518 HGNC: 843 AceView: ATP5G3 Ensembl:ENSG00000154518 euGenes: HUgn518
ECgene: ATP5G3 Kegg: 518 H-InvDB: ATP5G3

(According to HUGE)
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  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for ATP5G3 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for ATP5G3 gene:
Search GeneIP for patents involving ATP5G3

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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