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

ATP5G1 Gene

protein-coding   GIFtS: 62
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)
About This Section

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
ATP Synthase, H+ Transporting, Mitochondrial Fo Complex, Subunit C1
(Subunit 9)1 2
     ATP5A2
ATP5G1 2     ATP Synthase Lipid-Binding Protein, Mitochondrial2
ATP Synthase, H+ Transporting, Mitochondrial F0 Complex, Subunit C1
(Subunit 9)1 2
     ATP Synthase, H+ Transporting, Mitochondrial F0 Complex, Subunit C
(Subunit 9)2
ATPase Subunit C2 3     ATPase Subunit 92
ATP Synthase Proteolipid P12 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
     

External Ids:    HGNC: 8411   Entrez Gene: 5162   Ensembl: ENSG000001591997   OMIM: 6031925   UniProtKB: P054963   
ORGUL members:         
NONCODE14:n340733      

Export aliases for ATP5G1 gene to outside databases

Previous GC identifers: GC17P046682 GC17P049450 GC17P047312 GC17P047444 GC17P044327 GC17P042337


(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 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, and is affiliated with the lncRNA class. Diseases associated with ATP5G1 include urea cycle disorder, and neuronal ceroid lipofuscinosis, and among its related super-pathways are Electron Transport Chain and Metabolic pathways. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NC_018928.2  NT_010783.15  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for ATP5G1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 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: AT5G1_HUMAN, P05496 (See protein sequence)
Recommended Name: ATP synthase lipid-binding protein, 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)
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)

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

Explore proteomics data for ATP5G1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P05496

  • ATP5G1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ATP5G1 Protein Expression
    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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    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (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 to membrane IEA--
    GO:0033177proton-transporting two-sector ATPase complex, proton-transporting domain ----

    ATP5G1 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 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,
    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: 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 (GO ID links to tree view):    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


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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 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 disease0.61
    Electron Transport Chain0.75
    Oxidative phosphorylation0.51
    The citric acid (TCA) cycle and respiratory electron transport0.72
    Huntington's disease0.47
    Oxidative phosphorylation0.64
    Alzheimer's disease0.46
    2Metabolism
    Metabolism0.40
    Metabolic pathways0.40
    3Asparagine N-linked glycosylation
    Metabolism of proteins0.35
    4adenosine ribonucleotides de novo biosynthesis
    Formation of ATP by chemiosmotic coupling0.31
    5Mitochondrial Protein Import
    Mitochondrial Protein Import

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 BioSystems Pathways for ATP5G1
        Electron Transport Chain
    Oxidative phosphorylation


    5/6        Reactome Pathways for ATP5G1 (see all 6)
        Formation of ATP by chemiosmotic coupling
    Metabolism
    Mitochondrial Protein Import
    Metabolism of proteins
    Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.


    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

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ATP5G1

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

    5/57 Interacting proteins for ATP5G1 (P054963 ENSP000003482054) via UniProtKB, MINT, STRING, and/or I2D (see all 57)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ATP5BP065763, ENSP000002620304I2D: score=1 STRING: ENSP00000262030
    ATP5DP300493, ENSP000002153754I2D: score=1 STRING: ENSP00000215375
    ATP5F1ENSP000003587374STRING: ENSP00000358737
    ATP5IENSP000003060034STRING: ENSP00000306003
    ATP5JENSP000003896494STRING: ENSP00000389649
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (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--

    ATP5G1 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 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--

    Search CenterWatch for drugs/clinical trials and news about ATP5G1 / AT5G1

    (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,
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    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 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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    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 

    24/403 AceView cDNA sequences (see all 403):

    CR533449 AA551568 BP431545 CB157673 T27779 AA302180 AI207443 BM789338 
    AW629591 AA339947 AA216270 F37979 AA311757 AA024767 F26046 R96536 
    F27362 AA641985 CB125127 NM_005175 AI369905 AI697468 CA777489 AW272382 

    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™, 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

    ATP5G1 expression in normal human tissues (normalized intensities)      ATP5G1 embryonic expression: see
    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 
     5/7 selected tissues (see all 7) fully expand
     
     Lower Urinary Tract (Urinary System)    fully expand to see all 3 entries
             visceral organ   
     
     Intermediate Mesoderm (Gastrulation Derivatives)
             Mesonephros
     
     Skeletal Muscle (Muscoskeletal System)
             quadriceps   
     
     Peripheral Nervous System (Nervous System)
     
     Ovary (Reproductive System)

    See ATP5G1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ATP5G1

    SOURCE GeneReport for Unigene cluster: Hs.80986
        SABiosciences Expression via Pathway-Focused PCR Array including ATP5G1: 
              Mitochondrial Energy Metabolism in human mouse rat

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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 ATP5G1 gene from 7/15 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_001233602.2  XP_001233603.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    78(a)
    64(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
    --
    63(a)
    1 → many
    3R(27041867-27045352)
    worm
    (Caenorhabditis elegans)
    Secernentea Y82E9BR.36
    ATP synthase lipid-binding protein, mitochondrial
    66(a)
    1 → many
    III(1419189-1419914)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes OLI16
    F0-ATP synthase subunit c (ATPase-associated prote...
    57(a)
    1 → many
    Mito(46723-46953)


    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)
    About This Section
    Paralogs for ATP5G1 gene
    ATP5G32  ATP5G22  
    3 SIMAP similar genes for ATP5G1 using alignment to 5 protein entries:     AT5G1_HUMAN (see all proteins):
    ATP5A    ATP5G2    ATP5G3

    ATP5G1 for paralogs           About GeneDecksing


    5/9 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) 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

    10/116 SNPs in ATP5G1 are shown (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

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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: 603192    OMIM disorders: --

    8 diseases for ATP5G1:    About MalaCards
    urea cycle disorder    neuronal ceroid lipofuscinosis    batten disease    gigantism
    huntington's disease    parkinson's disease    neuronitis    alzheimer's disease

    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)
    About This Section

    PubMed articles for ATP5G1 gene, integrated from 9 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. (1993)
    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. 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)
    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. (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. (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. (1987)
    7. Large-scale association analysis identifies 13 new su sceptibility loci for coronary artery disease. (PubMed id 21378990)1 Schunkert H....Samani N.J. (2011)
    8. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    9. Global identification of modular cullin-RING ligase su bstrates. (PubMed id 21963094)1 Emanuele M.J....Elledge S.J. (2011)
    10. Novel role of ATPase subunit C targeting peptides bey ond mitochondrial protein import. (PubMed id 19889836)1 Vives-Bauza C....Manfredi G. (2010)

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

      Query String
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    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)
    About This Section
    Entrez Gene: 516 HGNC: 841 AceView: ATP5G1 Ensembl:ENSG00000159199 euGenes: HUgn516
    ECgene: ATP5G1 Kegg: 516 H-InvDB: ATP5G1

    (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 ATP5G1 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 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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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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