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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ATP5G3 Gene

protein-coding   GIFtS: 61
GCID: GC02M176040

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

(Previous names: ATP synthase, H+ transporting, mitochondrial F0 complex,...)
Alzheimer's & Parkinson's Diseases Congress
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
ATP Synthase, H+ Transporting, Mitochondrial Fo Complex, Subunit C3
(Subunit 9)1 2
     ATP Synthase, H+ Transporting, Mitochondrial F0 Complex, Subunit C
(Subunit 9) Isoform 31
ATP Synthase, H+ Transporting, Mitochondrial F0 Complex, Subunit C3
(Subunit 9)1 2
     P32
ATPase Subunit C2 3     ATP Synthase Lipid-Binding Protein, Mitochondrial2
ATP Synthase Proteolipid P32 3     ATP Synthase Subunit 92
ATPase Protein 92 3     ATP Synthase, Mitochondrial, C Subunit-32

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 urea cycle disorder, and batten disease, and among its related super-pathways are Electron Transport Chain and Metabolism. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.2  NT_005403.17  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for ATP5G3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: AT5G3_HUMAN, P48201 (See protein sequence)
Recommended Name: ATP synthase lipid-binding protein, 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
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)
Secondary accessions: B2R4Z0 D3DPF0 Q4ZFX7

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

Explore proteomics data for ATP5G3 at MOPED 

ATP5G3 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

ATP5G3 Protein Expression

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

ENSEMBL proteins: 
 ENSP00000284727   ENSP00000387317   ENSP00000376324  

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Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

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

ATP5G3 for ontologies           About GeneDecksing



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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section
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:
 IPR020537 ATPase_F0-cplx_csu_DDCD_BS
 IPR002379 ATPase_proteolipid_c_like_dom
 IPR000454 ATPase_F0-cplx_csu

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


ATP5G3 for domains           About GeneDecksing


(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,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

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 (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005215transporter activity NAS7698763
GO:0008289lipid binding IEA--
GO:0015078hydrogen ion transmembrane transporter activity IEA--
     
ATP5G3 for ontologies           About GeneDecksing


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

Animal Models:
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(Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
About This Section

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 disease0.47
Parkinson's disease0.61
Alzheimer's disease0.46
2Metabolism
Metabolic pathways0.40

Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways


2 BioSystems Pathways for ATP5G3
    Electron Transport Chain
Oxidative phosphorylation


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


ATP5G3 for pathways           About GeneDecksing

Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ATP5G3

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

5/59 Interacting proteins for ATP5G3 (P482011, 2, 3 ENSP000002847274) via UniProtKB, MINT, STRING, and/or I2D (see all 59)
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 
About this table

Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

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

ATP5G3 for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section
Browse Small Molecules at EMD Millipore
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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--

Search CenterWatch for drugs/clinical trials and news about ATP5G3 / AT5G3

(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,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

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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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 

24/600 AceView cDNA sequences (see all 600):

BX420339 AI126897 BU507040 BX458901 BQ015019 BI711784 N43981 BM766801 
AA575937 F36132 AA576203 AA010122 BM547258 BQ279087 CA867232 AA582561 
AI160310 BU069698 AA694117 BU781644 CD679393 CR623785 AW950994 AI088643 

GeneLoc Exon Structure

5/6 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

ATP5G3 expression in normal human tissues (normalized intensities)      ATP5G3 embryonic expression: see
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 
 5/18 selected tissues (see all 18) fully expand
 
 Brain (Nervous System)    fully expand to see all 6 entries
         Cerebral Cortex
         brain/midbrain   
 
 Heart (Cardiovascular System)    fully expand to see all 2 entries
         heart/atrium   
 
 Bone (Muscoskeletal System)    fully expand to see all 2 entries
         sensory organ/ear/inner ear   
 
 Limb (Muscoskeletal System)    fully expand to see all 2 entries
         limb/hindlimb   
 
 Eye (Sensory Organs)
         Retina

See ATP5G3 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ATP5G3

SOURCE GeneReport for Unigene cluster: Hs.429
    SABiosciences Expression via Pathway-Focused PCR Array including ATP5G3: 
          Mitochondrial Energy Metabolism in human mouse rat

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In Situ
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(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)
About This Section

This gene was present in the common ancestor of animals and fungi.

Orthologs for ATP5G3 gene from 7/18 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 83.82(n)
89.71(a)
  424142  XM_421992.3  XP_421992.1 
lizard
(Anolis carolinensis)
Reptilia --
--
Uncharacterized protein
77(a)
67(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 CG17461 ATP synthase Lipid-binding protein P1 65(n)
75(a)
  43693  NM_143595.2  NP_651852.1 
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

ATP5G3 for paralogs           About GeneDecksing


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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

10/214 SNPs in ATP5G3 are shown (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

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

7 diseases for ATP5G3:    About MalaCards
urea cycle disorder    batten disease    neuronal ceroid lipofuscinosis    huntington's disease
parkinson's disease    neuronitis    alzheimer's disease

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

ATP5G3 for disorders           About GeneDecksing


Congresses - knowledge worth sharing:  
Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
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 9 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. (1994)
  2. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (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. (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. (2004)
  5. Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)
  6. Identification of VKORC1 interaction partners by spli t-ubiquitin system and coimmunoprecipitation. (PubMed id 21103663)1 Schaafhausen A....MA1ller C.R. (2011)
  7. Molecular motors: turning the ATP motor. (PubMed id 14749816)1 Cross R.L. (2004)
  8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (2004)
  9. 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. (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. (2002)

(in PubMed, OMIM, and NCBI Bookshelf)
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(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)
About This Section
  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
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.)
About This Section
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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GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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