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ATP5C1 Gene

protein-coding   GIFtS: 67
GCID: GC10P007830

ATP Synthase, H+ Transporting, Mitochondrial F1 Complex,...


(Previous symbols: ATP5CL1, ATP5C)
Microbiology & Infectious 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 F1 Complex, Gamma
Polypeptide 11 2
     ATP Synthase Gamma Chain, Mitochondrial2
ATP5C1 2 3 5     ATP Synthase Subunit Gamma, Mitochondrial2
ATP5CL11 2 3 5     Mitochondrial ATP Synthase, Gamma Subunit 12
F-ATPase Gamma Subunit2 3     

External Ids:    HGNC: 8331   Entrez Gene: 5092   Ensembl: ENSG000001656297   OMIM: 1087295   UniProtKB: P365423   

Export aliases for ATP5C1 gene to outside databases

Previous GC identifers: GC10P007774 GC10P007980 GC10P007834 GC10P007870


(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 ATP5C1 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 consists of three main
subunits (a, b, c). This gene encodes the gamma subunit of the catalytic core. Alternatively spliced transcript
variants encoding different isoforms have been identified. This gene also has a pseudogene on chromosome 14.
(provided by RefSeq, Jul 2008)

GeneCards Summary for ATP5C1 Gene:
ATP5C1 (ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1) is a protein-coding gene. Diseases associated with ATP5C1 include huntington's disease, and parkinson's disease. GO annotations related to this gene include ATPase activity and proton-transporting ATPase activity, rotational mechanism.

UniProtKB/Swiss-Prot: ATPG_HUMAN, P36542
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(1) domain and the central
stalk which is part of the complex rotary element. The gamma subunit protrudes into the catalytic domain formed
of alpha(3)beta(3). Rotation of the central stalk against the surrounding alpha(3)beta(3) subunits leads to
hydrolysis of ATP in three separate catalytic sites on the beta subunits

Gene Wiki entry for ATP5C1 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_000010.11  NC_018921.2  NT_008705.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the ATP5C1 gene promoter:
         TBP   FAC1   Elk-1   Pbx1a   HFH-1   ATF-2   C/EBPalpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidATP5C1 promoter sequence
   Search Chromatin IP Primers for ATP5C1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ATP5C1


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

Entrez Gene cytogenetic band: 10p15.1   Ensembl cytogenetic band:  10p14   HGNC cytogenetic band: 10p14

ATP5C1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ATP5C1 gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10P007830:  view genomic region     (about GC identifiers)

Start:
7,830,092 bp from pter      End:
7,849,778 bp from pter
Size:
19,687 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: ATPG_HUMAN, P36542 (See protein sequence)
Recommended Name: ATP synthase subunit gamma, mitochondrial precursor  
Size: 298 amino acids; 32996 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)
Secondary accessions: A8KA31 Q5VYP3 Q6I9V2 Q96AS8
Alternative splicing: 2 isoforms:  P36542-1   P36542-2   

Explore the universe of human proteins at neXtProt for ATP5C1: NX_P36542

Explore proteomics data for ATP5C1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys49, Lys55, Lys112, Lys136, Lys270
  • Modification sites at PhosphoSitePlus

  • See ATP5C1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001001973.1  NP_005165.1  

    ENSEMBL proteins: 
     ENSP00000349142   ENSP00000338568   ENSP00000437565  
    Reactome Protein details: P36542

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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: gamma
    F-type ATPase

    3 InterPro protein domains:
     IPR023633 ATPase_F1_gsu_dom
     IPR000131 ATPase_F1-cplx_gsu
     IPR023632 ATPase_F1_gsu_CS

    Graphical View of Domain Structure for InterPro Entry P36542

    ProtoNet protein and cluster: P36542

    1 Blocks protein domain: IPB000131 H+-transporting two-sector ATPase

    UniProtKB/Swiss-Prot: ATPG_HUMAN, P36542
    Similarity: Belongs to the ATPase gamma chain family


    ATP5C1 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: ATPG_HUMAN, P36542
    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(1) domain and the central
    stalk which is part of the complex rotary element. The gamma subunit protrudes into the catalytic domain formed
    of alpha(3)beta(3). Rotation of the central stalk against the surrounding alpha(3)beta(3) subunits leads to
    hydrolysis of ATP in three separate catalytic sites on the beta subunits

         Genatlas biochemistry entry for ATP5C1:
    ATP synthase H+ transporting,mitochondrial matrix (F1 segment),gamma subunit isoform 1,mainly expressed in
    heart,located in the mitochondrial matrix,complex V of oxidative phosphorylation (OXPHOS) with an alternative
    isoform in the liver differing by a deletion of an Asp(233)

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016887contributes to ATPase activity NAS8227057
    GO:0022857transmembrane transporter activity IC12110673
    GO:0044822poly(A) RNA binding IDA--
    GO:0046933proton-transporting ATP synthase activity, rotational mechanism IEA--
    GO:0046961proton-transporting ATPase activity, rotational mechanism IEA--
         
    ATP5C1 for ontologies           About GeneDecksing


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    miRNA
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    5 qRT-PCR Assays for microRNAs that regulate ATP5C1:
    hsa-miR-520d-5p hsa-miR-524-5p hsa-miR-32* hsa-miR-626 hsa-miR-3605-5p
    SwitchGear 3'UTR luciferase reporter plasmidATP5C1 3' UTR sequence
    Inhib. RNA
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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
    ATPG_HUMAN, P36542: Mitochondrion. Mitochondrion inner membrane; Peripheral membrane protein (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    nucleus2
    cytosol1
    golgi apparatus1
    peroxisome1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000275mitochondrial proton-transporting ATP synthase complex, catalytic core F(1) NAS8227057
    GO:0005739mitochondrion NAS12887009
    GO:0005743mitochondrial inner membrane ISS--
    GO:0005753mitochondrial proton-transporting ATP synthase complex IDA12110673
    GO:0005759mitochondrial matrix TAS--

    ATP5C1 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 ATP5C1 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
    Huntington's disease0.45
    The citric acid (TCA) cycle and respiratory electron transport0.71
    Formation of ATP by chemiosmotic coupling0.00
    Oxidative phosphorylation0.64
    2Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    3purine nucleotide salvage
    purine nucleotide salvage0.78
    adenosine ribonucleotides de novo biosynthesis0.51
    purine nucleotides de novo biosynthesis0.78
    4Alzheimer's disease
    Alzheimer's disease0.44
    5Doxorubicin Pathway (Cardiomyocyte Cell), Pharmacodynamics
    Doxorubicin Pathway (Cardiomyocyte Cell), Pharmacodynamics

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    4 BioSystems Pathways for ATP5C1
        purine nucleotides de novo biosynthesis
    Electron Transport Chain
    purine nucleotide salvage
    adenosine ribonucleotides de novo biosynthesis


    1 Reactome Pathway for ATP5C1
        Formation of ATP by chemiosmotic coupling

    1 PharmGKB Pathway for ATP5C1
        Doxorubicin Pathway (Cardiomyocyte Cell), Pharmacodynamics

    5 Kegg Pathways  (Kegg details for ATP5C1):
        Oxidative phosphorylation
    Metabolic pathways
    Alzheimer's disease
    Parkinson's disease
    Huntington's disease


    ATP5C1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including ATP5C1: 
              Mitochondrial Energy Metabolism in human mouse rat
              Telomeres & Telomerase in human mouse rat
              Fatty Liver in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for ATP5C1

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

    Selected Interacting proteins for ATP5C1 (P365422, 3 ENSP000003491424) via UniProtKB, MINT, STRING, and/or I2D (see all 634)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4AP628053I2D: score=1 
    HIST1H4BP628053I2D: score=1 
    HIST1H4CP628053I2D: score=1 
    HIST1H4DP628053I2D: score=1 
    HIST1H4EP628053I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006119oxidative phosphorylation NAS8227057
    GO:0006200ATP catabolic process NAS8227057
    GO:0006754ATP biosynthetic process NAS8227057
    GO:0015986ATP synthesis coupled proton transport ----
    GO:0022904respiratory electron transport chain TAS--

    ATP5C1 for ontologies           About GeneDecksing



    (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 ATP5C1 (ATPG)

    4 HMDB Compounds for ATP5C1    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--

    5 DrugBank Compounds for ATP5C1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    1-ACETYL-2-CARBOXYPIPERIDINE-- --target--10592235
    AUROVERTIN B-- --target--10592235
    N1-(2-AMINO-4-METHYLPENTYL)OCTAHYDRO-PYRROLO[1,2-A] PYRIMIDINE-- --target--10592235
    PICEATANNOL-- --target--10592235
    Quercetin-- 117-39-5target--10592235



    (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 ATP5C1 gene (2 alternative transcripts): 
    NM_001001973.1  NM_005174.2  

    Unigene Cluster for ATP5C1:

    ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1
    Hs.271135  [show with all ESTs]
    Unigene Representative Sequence: BF131627
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000356708(uc009xiq.1 uc010qbc.1 uc001iju.3 uc001ijv.3)
    ENST00000493053 ENST00000462760 ENST00000460362 ENST00000335698 ENST00000465936
    ENST00000460820 ENST00000472202(uc010qbb.2) ENST00000473809 ENST00000480528
    ENST00000541227
    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Additional mRNA sequence: 

    AK292896.1 AK294061.1 AK296803.1 BC000470.2 BC000931.3 BC010380.1 BC013394.2 BC013865.1 
    BC016812.1 BC020824.1 BC026049.1 CR457403.1 D16562.1 D16563.1 

    Selected DOTS entries (see all 41):

    DT.454044  DT.91773081  DT.91773071  DT.95131607  DT.92376161  DT.91861811  DT.100840908  DT.121229932 
    DT.95181724  DT.91773080  DT.100886416  DT.91989112  DT.121229902  DT.100886424  DT.430382  DT.95181788 
    DT.100886401  DT.100886407  DT.100886383  DT.100886423  DT.121229878  DT.91910082  DT.100039108  DT.100763408 

    Selected AceView cDNA sequences (see all 1014):

    CA848743 AA298153 BM905295 BM312031 AA347959 N34747 BC000931 CR611688 
    BC016812 BU657633 CA842799 BM803906 CA420872 BQ448448 AV715042 CD238776 
    BI676499 BI438708 NM_005174 AV708508 BC013865 CA454345 N75011 BF794389 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ATP5C1 (see all 10)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b · 4c ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10
    SP1:                                -                       -     -     -                                                   
    SP2:                                -                       -     -     -                                         -         
    SP3:                          -     -     -                 -     -     -                                                   
    SP4:                                -                       -     -     -     -                                             
    SP5:                          -     -                       -     -     -                                                   


    ECgene alternative splicing isoforms for ATP5C1

    (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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    ATP5C1 expression in normal human tissues (normalized intensities)      ATP5C1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GACAATGCCA
    ATP5C1 Expression
    About this image


    ATP5C1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 20) fully expand
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebral Cortex
     
     Bone (Muscoskeletal System)    fully expand to see all 2 entries
             Membranous Facial Bones
     
     Eye (Sensory Organs)
             Lens
     
     Neural Tube (Nervous System)
             Telencephalon
     
     Colon (Gastrointestinal Tract)
    ATP5C1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ATP5C1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.271135

    UniProtKB/Swiss-Prot: ATPG_HUMAN, P36542
    Tissue specificity: Isoform Heart is expressed specifically in the heart and skeletal muscle, which require rapid
    energy supply. Isoform Liver is expressed in the brain, liver and kidney. Isoform Heart and Isoform Liver are
    expressed in the skin, intestine, stomach and aorta

        Pathway & Disease-focused RT2 Profiler PCR Arrays including ATP5C1: 
              Mitochondrial Energy Metabolism in human mouse rat
              Telomeres & Telomerase in human mouse rat
              Fatty Liver 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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ATP5C1 gene from Selected species (see all 24)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Atp5c11 , 5 ATP synthase, H+ transporting, mitochondrial F1 complex, more1, 5 87.47(n)1
    91.28(a)1
      2 (6.86 cM)5
    119491  NM_020615.41  NP_065640.21 
     100560165 
    chicken
    (Gallus gallus)
    Aves ATP5C11 ATP synthase, H+ transporting, mitochondrial F1 complex, more 78(n)
    82.99(a)
      419108  NM_001278096.1  NP_001265025.1 
    lizard
    (Anolis carolinensis)
    Reptilia ATP5C16
    ATP synthase, H+ transporting, mitochondrial F1 co...
    80(a)
    1 ↔ 1
    5(183275-192478)
    African clawed frog
    (Xenopus laevis)
    Amphibia BC044680.12   -- 78.13(n)    BC044680.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufk34c052 wufk34c05 77.78(n)   336957  BC060917.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta ATPsyn-gamma1 , 3 hydrogen transport
    hydrogen-transporting two-sector
    more3
    ATP synthase-gamma chain1
    58(a)3
    57.39(n)1
    60.07(a)1
      99B103
    435071  NM_079826.41  NP_524550.11 
    worm
    (Caenorhabditis elegans)
    Secernentea Y69A2AR.18a3
    CELE_Y69A2AR.181
    CELE_Y69A2AR.181 57(a)
    (best of 2)3
    59.12(n)1
    59.85(a)1
      IV(2495753-2497421)3
    1770381  NM_067813.61  NP_500214.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ATP3(YBR039W)4
    ATP31
    Gamma subunit of the F1 sector of mitochondrial F1F more4
    ATP31
    52.45(n)1
    41.18(a)1
      2(315575-316510)4
    8523271, 4  NP_009595.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons ATP31 ATP3 50.92(n)
    39.11(a)
      817866  NM_128864.3  NP_180863.1 
    rice
    (Oryza sativa)
    Liliopsida Os.107032 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 76.43(n)    NM_195647.1 


    ENSEMBL Gene Tree for ATP5C1 (if available)
    TreeFam Gene Tree for ATP5C1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ATP5C1 gene

    ATP5C1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for ATP5C1
    PGOHUM00000247803


    (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 ATP5C1 (see all 425)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1901042781,2
    --7832002(+) TTCTTC/GTTTTC 2 -- int10--------
    rs1813406151,2
    --7832015(+) GTATTC/GCTTCA 2 -- int10--------
    rs1504538051,2
    C--7832060(+) CCATTC/TCTCTT 2 -- int10--------
    rs736299271,2
    C--7832131(+) GGAAGG/CGGAAG 2 -- int11Minor allele frequency- C:0.50WA 2
    rs1849405441,2
    --7832152(+) TGTCTC/TAACGA 2 -- int10--------
    rs1898947141,2
    --7832155(+) CTTAAC/TGAACC 2 -- int10--------
    rs1380073521,2
    --7832265(+) AACATA/GAAAAC 2 -- int10--------
    rs1806957281,2
    --7832321(+) GGTATC/TGGCAA 2 -- int10--------
    rs1854074261,2
    --7832345(+) TTTGAA/GAATTA 2 -- int10--------
    rs38399171,2
    C--7832355(-) GCTTT-/AAAAAA 2 -- int1 trp31Minor allele frequency- A:0.50NA 2

    HapMap Linkage Disequilibrium report for ATP5C1 (7830092 - 7849778 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for ATP5C1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2671165CNV Deletion23128226

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ATP5C1
    DNA2.0 Custom Variant and Variant Library Synthesis for ATP5C1

    (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: 108729    OMIM disorders: --

    9 diseases for ATP5C1:    About MalaCards
    huntington's disease    parkinson's disease    pneumonia    tuberculosis
    alzheimer's disease    prostate cancer    malaria    cerebritis
    prostatitis


    ATP5C1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
    Genetic Association Database (GAD): ATP5C1
    Human Genome Epidemiology (HuGE) Navigator: ATP5C1 (4 documents)

    Export disorders for ATP5C1 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 ATP5C1 gene, integrated from 10 sources (see all 49):
    (articles sorted by number of sources associating them with ATP5C1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Gene structure of human mitochondrial ATP synthase gamma-subunit. Tissue specificity produced by alternative RNA splicing. (PubMed id 8227057)1, 2, 3, 9 Matsuda C.... Kagawa Y. (J. Biol. Chem. 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. Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging. (PubMed id 19834535)1, 4 Wheeler H.E....Kim S.K. (PLoS Genet. 2009)
    4. Polymorphisms in mitochondrial genes and prostate cancer risk. (PubMed id 19064571)1, 4 Wang L....Thibodeau S.N. (amp 2008)
    5. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PubMed id 16385451)1, 4 Grupe A....Goate A. (Am. J. Hum. Genet. 2006)
    6. 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)
    7. The DNA sequence and comparative analysis of human chromosome 10. (PubMed id 15164054)1, 2 Deloukas P.... Rogers J. (Nature 2004)
    8. Chromosomal localization of genes required for the terminal steps of oxidative metabolism: alpha and gamma subunits of ATP synthase and the phosphate carrier. (PubMed id 8168843)1, 3 Jabs E.W....Pedersen P.L. (Hum. Genet. 1994)
    9. Interlaboratory reproducibility of large-scale human protein-complex analysis by standardized AP-MS. (PubMed id 23455922)1 Varjosalo M....Superti-Furga G. (Nat. Methods 2013)
    10. Protein interaction network of the mammalian Hippo pathway reveals mechanisms of kinase-phosphatase interactions. (PubMed id 24255178)1 Couzens A.L....Gingras A.C. (Sci Signal 2013)

    (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: 509 HGNC: 833 AceView: ATP5C1 Ensembl:ENSG00000165629 euGenes: HUgn509
    ECgene: ATP5C1 Kegg: 509 H-InvDB: ATP5C1

    (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 ATP5C1 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 ATP5C1 gene:
    Search GeneIP for patents involving ATP5C1

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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