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ATP5G1 Gene

protein-coding   GIFtS: 59
GCID: GC17P046970

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

(Previous names: ATP synthase, H+ transporting, mitochondrial F0 complex,...)
(Previous symbol: ATP5G)
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)
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Aliases
ATP Synthase, H+ Transporting, Mitochondrial Fo Complex, Subunit C1
(Subunit 9)1 2
     ATP5A2
ATP5G1 2     ATP Synthase F(0) Complex Subunit C1, Mitochondrial2
ATP Synthase, H+ Transporting, Mitochondrial F0 Complex, Subunit C1
(Subunit 9)1 2
     ATP Synthase Lipid-Binding Protein, Mitochondrial2
ATPase Subunit C2 3     ATP Synthase, H+ Transporting, Mitochondrial F0 Complex, Subunit C
(Subunit 9)2
ATP Synthase Proteolipid P12 3     ATPase Subunit 92
ATP Synthase Proton-Transporting Mitochondrial F(0) Complex Subunit C12 3     Mitochondrial ATP Synthase, Subunit 92
ATPase Protein 92 3     Mitochondrial ATP Synthase, Subunit C2
ATP Synthase, H+ Transporting, Mitochondrial F0 Complex, Subunit C
(Subunit 9), Isoform 11
     ATP Synthase Lipid-Binding Protein3

External Ids:    HGNC: 8411   Entrez Gene: 5162   Ensembl: ENSG000001591997   OMIM: 6031925   UniProtKB: P054963   

Export aliases for ATP5G1 gene to outside databases

Previous GC identifers: GC17P046682 GC17P049450 GC17P047312 GC17P047444 GC17P044327 GC17P042337


(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 ATP5G1 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 the same protein have been identified. (provided by RefSeq,
Jul 2008)

GeneCards Summary for ATP5G1 Gene:
ATP5G1 (ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C1 (subunit 9)) is a protein-coding gene. Diseases associated with ATP5G1 include spindle cell hemangioma, and urea cycle disorder. GO annotations related to this gene include hydrogen ion transmembrane transporter activity and transporter activity. An important paralog of this gene is ATP5G3.

UniProtKB/Swiss-Prot: AT5G1_HUMAN, P05496
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 ATP5G1 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:
NC_000017.11  NC_018928.2  NT_010783.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the ATP5G1 gene promoter:
         RREB-1   Nkx2-5   HNF-1A   PPAR-alpha   HSF2   HNF-1   ARP-1   ZID   Ik-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidATP5G1 promoter sequence
   Search Chromatin IP Primers for ATP5G1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ATP5G1


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

Entrez Gene cytogenetic band: 17q21.32   Ensembl cytogenetic band:  17q21.32   HGNC cytogenetic band: 17q21.32

ATP5G1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ATP5G1 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P046970:  view genomic region     (about GC identifiers)

Start:
46,970,127 bp from pter      End:
46,973,233 bp from pter
Size:
3,107 bases      Orientation:
plus 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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: AT5G1_HUMAN, P05496 (See protein sequence)
Recommended Name: ATP synthase F(0) complex subunit C1, mitochondrial precursor  
Size: 136 amino acids; 14277 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. 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)
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)

Explore the universe of human proteins at neXtProt for ATP5G1: NX_P05496

Explore proteomics data for ATP5G1 at MOPED


See ATP5G1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (2 alternative transcripts): 
NP_001002027.1  NP_005166.1  

ENSEMBL proteins: 
 ENSP00000348205   ENSP00000426094   ENSP00000422086   ENSP00000377033   ENSP00000422950  
 ENSP00000458423  
Reactome Protein details: P05496

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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 P05496

ProtoNet protein and cluster: P05496

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

UniProtKB/Swiss-Prot: AT5G1_HUMAN, P05496
Similarity: Belongs to the ATPase C chain family


ATP5G1 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,
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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

     UniProtKB/Swiss-Prot Summary: AT5G1_HUMAN, P05496
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 ATP5G1:
ATP synthase H+ transporting,subunit C,inner mitochondrial membrane (F0 segment),subunit C,isoform 1,DCCD
(dicyclohexylcarbodiimidine) reactive,complex V of oxidative phosphorylation (OXPHOS)

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

GO IDQualified GO termEvidencePubMed IDs
GO:0005215transporter activity NAS8328972
GO:0008289lipid binding IEA--
GO:0015078hydrogen ion transmembrane transporter activity IEA--
     
ATP5G1 for ontologies           About GeneDecksing


Animal Models:
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(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
AT5G1_HUMAN, P05496: Mitochondrion membrane; Multi-pass membrane protein
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
mitochondrion5
extracellular2
plasma membrane1
vacuole1

Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005739mitochondrion IDA--
GO:0005743mitochondrial inner membrane TAS--
GO:0005753mitochondrial proton-transporting ATP synthase complex ISS--
GO:0016021integral component of membrane IEA--
GO:0033177proton-transporting two-sector ATPase complex, proton-transporting domain ----

ATP5G1 for ontologies           About GeneDecksing


(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 ATP5G1 About    
See pathways by source

SuperPathContained pathways About
1Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.0.81
Parkinson's disease0.57
Electron Transport Chain0.75
Oxidative phosphorylation0.51
The citric acid (TCA) cycle and respiratory electron transport0.71
Huntington's disease0.45
Oxidative phosphorylation0.64
Formation of ATP by chemiosmotic coupling0.00
2Metabolism
Metabolism0.38
Metabolic pathways0.38
3Alzheimer's disease
Alzheimer's disease0.44
4Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
Metabolism of proteins0.30
5Mitochondrial Protein Import
Mitochondrial Protein Import

Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways


2 BioSystems Pathways for ATP5G1
    Oxidative phosphorylation
Electron Transport Chain


2 Reactome Pathways for ATP5G1
    Mitochondrial protein import
Formation of ATP by chemiosmotic coupling


5 Kegg Pathways  (Kegg details for ATP5G1):
    Oxidative phosphorylation
Metabolic pathways
Alzheimer's disease
Parkinson's disease
Huntington's disease


ATP5G1 for pathways           About GeneDecksing

    Pathway & Disease-focused RT2 Profiler PCR Array including ATP5G1: 
          Mitochondrial Energy Metabolism in human mouse rat

Interactions:

    Search GeneGlobe Interaction Network for ATP5G1

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

Selected Interacting proteins for ATP5G1 (P054963 ENSP000003482054) via UniProtKB, MINT, STRING, and/or I2D (see all 63)
InteractantInteraction Details
GeneCardExternal ID(s)
ATP5BP065763, ENSP000002620304I2D: score=1 STRING: ENSP00000262030
ATP5DP300493, ENSP000002153754I2D: score=1 STRING: ENSP00000215375
ATP5IENSP000003060034STRING: ENSP00000306003
ATP5JENSP000003896494STRING: ENSP00000389649
ATP5LENSP000003006884STRING: ENSP00000300688
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Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0015986ATP synthesis coupled proton transport ----
GO:0015991ATP hydrolysis coupled proton transport IEA--
GO:0022904respiratory electron transport chain TAS--
GO:0042776mitochondrial ATP synthesis coupled proton transport TAS--
GO:0044237cellular metabolic process TAS--

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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 Tocris compounds for ATP5G1 (AT5G1)

4 HMDB Compounds for ATP5G1    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,
Conferences by KenesGroup, 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, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for ATP5G1 gene (2 alternative transcripts): 
NM_001002027.1  NM_005175.2  

Unigene Cluster for ATP5G1:

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C1 (subunit 9)
Hs.80986  [show with all ESTs]
Unigene Representative Sequence: BF569083
10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000355938(uc002ioh.3) ENST00000513347 ENST00000503641 ENST00000514808
ENST00000393366(uc002iog.3) ENST00000506855 ENST00000513781 ENST00000504591
ENST00000502964 ENST00000515060

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  QuantiFast Probe-based Assays in human, mouse, rat ATP5G1

Additional mRNA sequence: 

AK311848.1 AL080089.1 BC004963.2 BT007230.1 CR533449.1 D13118.1 M16453.1 

17 DOTS entries:

DT.100041307  DT.450560  DT.100043144  DT.100828848  DT.100828846  DT.92459142  DT.120911402  DT.99980251 
DT.450563  DT.95213310  DT.91670594  DT.91759202  DT.91847293  DT.92459131  DT.92459140  DT.120911273 
DT.92459136 

Selected AceView cDNA sequences (see all 403):

CR533449 T27779 CB157673 BP431545 AA551568 F27362 R96536 F26046 
AA024767 AA311757 F37979 AA216270 AA339947 AW629591 BM789338 AI207443 
AA302180 BU850142 BG944094 AI369905 AA622052 CB054663 R94597 AA688403 

GeneLoc Exon Structure

4 Alternative Splicing Database (ASD) splice patterns (SP) for ATP5G1    About this scheme

ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6
SP1:              -     -           -     -                     
SP2:                    -           -     -                     
SP3:                          -     -                           
SP4:              -     -                                       


ECgene alternative splicing isoforms for ATP5G1

(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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ATP5G1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: GGGGGTCACC
ATP5G1 Expression
About this image


ATP5G1 expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database
 
 Intermediate Mesoderm (Gastrulation Derivatives)
         Mesonephros
ATP5G1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

ATP5G1 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.80986
    Pathway & Disease-focused RT2 Profiler PCR Array including ATP5G1: 
          Mitochondrial Energy Metabolism in human mouse rat

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QuantiFast Probe-based Assays in human, mouse, rat ATP5G1
In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATP5G1

(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 ATP5G1 gene from Selected species (see all 15)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Atp5g11 , 5 ATP synthase, H+ transporting, mitochondrial F0 complex, more1, 5 89.46(n)1
89.71(a)1
  11 (59.33 cM)5
119511  NM_001161419.11  NP_001154891.11 
 960688525 
chicken
(Gallus gallus)
Aves ATP5G11 ATP synthase, H+ transporting, mitochondrial Fo complex, more 77.28(n)
80.74(a)
  419992  XM_001233602.3  XP_001233603.1 
lizard
(Anolis carolinensis)
Reptilia --
--
Uncharacterized protein
79(a)
65(a)
1 ↔ many
1 ↔ many
6(75946647-75949886)
4(140193752-140194159)
zebrafish
(Danio rerio)
Actinopterygii wufb01g062 Danio rerio cDNA clone MGC73293 IMAGE4787242, complete more 83.52(n)    BC059619.1 
fruit fly
(Drosophila melanogaster)
Insecta CG17466
--
62(a)
1 → many
3R(27041867-27045352)
worm
(Caenorhabditis elegans)
Secernentea Y82E9BR.36
Protein Y82E9BR.3 (Y82E9BR.3) mRNA, complete cds
65(a)
1 → many
III(1419196-1419914) WBGene00022336
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes OLI16
F0-ATP synthase subunit c (ATPase-associated prote...
61(a)
1 → many
Mito(46723-46953) Q0130


ENSEMBL Gene Tree for ATP5G1 (if available)
TreeFam Gene Tree for ATP5G1 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for ATP5G1 gene
ATP5G32  ATP5G22  
3 SIMAP similar genes for ATP5G1 using alignment to 6 protein entries:     AT5G1_HUMAN (see all proteins):
ATP5A    ATP5G2    ATP5G3

ATP5G1 for paralogs           About GeneDecksing


Selected Pseudogenes.org Pseudogenes for ATP5G1 (see all 9)
PGOHUM00000238516 PGOHUM00000238847 PGOHUM00000239912 PGOHUM00000248682 PGOHUM00000247757


(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 ATP5G1 (see all 116)    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 17 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs351701521,2
C--42340094(+) TATCT-/CTCT  
        
GCTAT
1 -- int10--------
rs750414581,2
C--42340094(+) TATCTA/C/GTCTGC 1 -- int10--------
rs1507028401,2
--47983606(+) CCGGGC/TGCGCT 1 -- us2k10--------
rs6180001,2
C,H--47983773(-) cctccC/Ggagta 1 -- us2k17Minor allele frequency- G:0.00NA WA CSA 13
rs781722001,2
F--47983972(+) GTGGAA/CCATTT 1 -- us2k11Minor allele frequency- C:0.05WA 118
rs73429591,2
C,F,H--47984062(+) tcctaG/Aaagtg 1 -- us2k14Minor allele frequency- A:0.00NS EA 386
rs1448235421,2
--47984303(+) AACTTA/GTATTT 1 -- us2k10--------
rs37604511,2
C,F,A--47984401(+) ataggG/Aatatt 1 -- us2k110Minor allele frequency- A:0.30NA WA EA 550
rs1176356451,2
C,F--47984429(+) TTGTTT/CTTACA 1 -- us2k11Minor allele frequency- C:0.01EA 120
rs733299501,2
C--47984457(+) GTTTGG/TTTTTT 1 -- us2k10--------

HapMap Linkage Disequilibrium report for ATP5G1 (46970127 - 46973233 bp)

Structural Variations
     Database of Genomic Variants (DGV) 2 variations for ATP5G1:    About this table    
Variant IDTypeSubtypePubMed ID
nsv482969CNV Loss15286789
nsv833472CNV Gain17160897

Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing ATP5G1
DNA2.0 Custom Variant and Variant Library Synthesis for ATP5G1

(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.)
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OMIM gene information: 603192    OMIM disorders: --

12 diseases for ATP5G1:    
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spindle cell hemangioma    urea cycle disorder    gigantism    batten disease
neuronal ceroid lipofuscinosis    hemangioma    huntington's disease    coronary artery disease
sinusitis    parkinson's disease    alzheimer's disease    neuronitis

2 diseases from the University of Copenhagen DISEASES database for ATP5G1:
Spindle cell hemangioma     Neuronal ceroid lipofuscinosis

ATP5G1 for disorders           About GeneDecksing


Congresses - knowledge worth sharing:
Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
Genetic Association Database (GAD): ATP5G1
Human Genome Epidemiology (HuGE) Navigator: ATP5G1 (2 documents)

Export disorders for ATP5G1 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 ATP5G1 gene, integrated from 10 sources (see all 28):
(articles sorted by number of sources associating them with ATP5G1)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Sequences of members of the human gene family for the c subunit of mitochondrial ATP synthase. (PubMed id 8328972)1, 2, 3 Dyer M.R. and Walker J.E. (Biochem. J. 1993)
  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. 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)
  4. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PubMed id 11230166)1, 2 Wiemann S.... Poustka A. (Genome Res. 2001)
  5. Molecular cloning and sequence of two cDNAs for human subunit c of H(+)-ATP synthase in mitochondria. (PubMed id 8485160)1, 2 Higuti T.... Tsujita H. (Biochim. Biophys. Acta 1993)
  6. Human liver cDNA clones encoding proteolipid subunit 9 of the mitochondrial ATPase complex. (PubMed id 2883974)1, 2 Farrell L.B. and Nagley P. (Biochem. Biophys. Res. Commun. 1987)
  7. Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. (PubMed id 21378990)1 Schunkert H....Samani N.J. (Nat. Genet. 2011)
  8. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (amp 2011)
  9. Global identification of modular cullin-RING ligase substrates. (PubMed id 21963094)1 Emanuele M.J....Elledge S.J. (Cell 2011)
  10. Novel role of ATPase subunit C targeting peptides beyond mitochondrial protein import. (PubMed id 19889836)1 Vives-Bauza C....Manfredi G. (Mol. Biol. Cell 2010)

(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: 516 HGNC: 841 AceView: ATP5G1 Ensembl:ENSG00000159199 euGenes: HUgn516
ECgene: ATP5G1 Kegg: 516 H-InvDB: ATP5G1

(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 ATP5G1 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 ATP5G1 gene:
Search GeneIP for patents involving ATP5G1

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



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