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

ATP5C1 Gene

protein-coding   GIFtS: 60
GCID: GC10P007830

ATP synthase, H+ transporting, mitochondrial F1 complex,...


(Previous symbols: ATP5CL1, ATP5C)
 Explore 9 diseases affiliated with
ATP5C1 via our new
 Human Malady Compendium 
Biological research products
for ATP5C1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

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

Entrez Gene summary for ATP5C1:
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)

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


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000010.10  NC_018921.1  NT_008705.16  
Regulatory elements:
   SABiosciences 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
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Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

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)
Subcellular location: Mitochondrion. Mitochondrion inner membrane; Peripheral membrane protein (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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P36542

  • ATP5C1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000349142   ENSP00000338568   ENSP00000437565  
    Reactome Protein details: P36542
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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: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



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    ATP5C1 for domains           About GeneDecksing

    3 InterPro domains/families:
     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 family: IPB000131 H+-transporting two-sector ATPase

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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         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

         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)

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    Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016887contributes to ATPase activity NAS8227057
    GO:0022857transmembrane transporter activity IC12110673
    GO:0046933proton-transporting ATP synthase activity, rotational mechanism IEA--
    GO:0046961proton-transporting ATPase activity, rotational mechanism IEA--


    ATP5C1 for ontologies           About GeneDecksing



    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    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.1.00
    Parkinson's disease0.61
    Electron Transport Chain0.76
    Alzheimer's disease0.43
    The citric acid (TCA) cycle and respiratory electron transport0.72
    Huntington's disease0.40
    Oxidative phosphorylation0.63
    2Metabolism
    Metabolism1.00
    Metabolic pathways0.38
    3Doxorubicin Pathway (Cardiomyocyte Cell), Pharmacodynamics
    Doxorubicin Pathway (Cardiomyocyte Cell), Pharmacodynamics1.00
    4Formation of ATP by chemiosmotic coupling
    Formation of ATP by chemiosmotic coupling1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    1 BioSystems Pathway for ATP5C1 
        Electron Transport Chain

    4        Reactome Pathways for ATP5C1
        Formation of ATP by chemiosmotic coupling
    Metabolism
    Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    The citric acid (TCA) cycle and respiratory electron transport

    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

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ATP5C1

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

    5/593 Interacting proteins for ATP5C1 (P365422, 3 ENSP000003491424) via UniProtKB, MINT, STRING, and/or I2D (see all 593)
    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): 5/7 biological process terms (GO ID links to tree view) (see all 7):    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 HMDB, BitterDB, and/or Novoseek, 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 ATP5C1

    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

    Search CenterWatch for drugs/clinical trials and news about ATP5C1 / ATPG 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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

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    Additional cDNA 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 

    24/41 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 

    24/1014 AceView cDNA sequences (see all 1014):

    CA432708 BM907194 CA842799 BM312031 CA943209 AA298154 BF980814 BQ448448 
    BQ962663 BM848726 CN484048 CB160195 CA848743 BM841966 BU622511 CB132718 
    BM667127 BF106424 BC000931 CR611688 D16563 BQ926438 CR595574 BI676499 

    GeneLoc Exon Structure

    5/10 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™, 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

    ATP5C1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GACAATGCCA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See ATP5C1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ATP5C1

    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

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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 last universal common ancestor (LUCA).

    Orthologs for ATP5C1 gene from 11/39 species (see all 39)    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 78.34(n)
    82.99(a)
      419108  XM_417296.3  XP_417296.2 
    lizard
    (Anolis carolinensis)
    Reptilia ATP5C16
    --
    83(a)
    1 ↔ 1
    5(185996-191076)
    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-&ggr;3
    ATPsyn-gamma1
    hydrogen transport hydrogen-transporting
    two-sector more3
    ATP synthase-gamma chain1
    58(a)3
    57.51(n)1
    60.07(a)1
      99B103
    435071  NM_079826.31  NP_524550.11 
    worm
    (Caenorhabditis elegans)
    Secernentea Y69A2AR.18a3
    CELE_Y69A2AR.181
    Protein Y69A2AR.181 57(a)
    (best of 2)3
    58.67(n)1
    58.91(a)1
      IV(2495753-2497421)3
    1770381  NM_067813.51  NP_500214.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ATP3(YBR039W)4
    ATP31
    Gamma subunit of the F1 sector of mitochondrial F1F more4
    Atp3p1
    52.7(n)1
    41.18(a)1
      2(315575-316510)4
    8523271, 4  NP_009595.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons ATP31 ATP synthase subunit gamma 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)
    About This Section
    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, UniProtKB, 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

    10/426 NCBI SNPs in ATP5C1 are shown (see all 426    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs354948741,2
    C,--7828115(+) AGCGGA/GGGTCC 4 -- int1 us2k12Minor allele frequency- G:0.25NA 4
    rs354798091,2
    C,--7828117(+) CGGAGG/ATCCTA 4 -- int1 us2k12Minor allele frequency- A:0.25NA 4
    rs1858729081,2
    --7828164(+) AATCTC/TGATTT 4 -- us2k1 int10--------
    rs762319871,2
    C,F,--7828208(+) GAATGT/CGTATT 4 -- int1 us2k11Minor allele frequency- C:0.08WA 118
    rs789549711,2
    F,--7828220(+) GATGAT/CAAAGA 4 -- us2k1 int11Minor allele frequency- C:0.09WA 118
    rs765022171,2
    --7828227(+) AAGAGG/AAACTT 4 -- us2k1 int11Minor allele frequency- A:0.50NA 2
    rs350287441,2
    C,F,--7828231(+) GGAACG/TTCTAT 4 -- us2k1 int12Minor allele frequency- T:0.50NA 4
    rs1814187431,2
    --7828233(+) AACTTC/TTATTA 4 -- us2k1 int10--------
    rs356374741,2
    C,F,--7828242(+) TAATTG/TTGTTA 4 -- us2k1 int13Minor allele frequency- T:0.10NA WA 122
    rs127666981,2
    C,F,H,--7828244(+) ATTGTG/ATTATG 4 -- int1 us2k1 tfbs37Minor allele frequency- A:0.02NS EA NA WA 524

    HapMap Linkage Disequilibrium report for ATP5C1 (7830092 - 7849778 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for ATP5C1: --

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    ATP5C1 for disorders           About GeneDecksing

    OMIM gene information: 108729    OMIM disorders: --

    9 diseases for ATP5C1:    About MalaCards
    complex v    huntington's disease    parkinson's disease    alzheimer's disease
    pneumonia    tuberculosis    malaria    prostatitis
    mycobacterium tuberculosis

    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)
    About This Section

    PubMed articles for ATP5C1 gene, integrated from 9 sources (see all 40):
    (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. (1993)
    2. 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)
    3. The DNA sequence and comparative analysis of human chromosome 10. (PubMed id 15164054)1, 2 Deloukas P.... Rogers J. (2004)
    4. 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. (1994)
    5. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    6. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    7. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    8. Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)
    9. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    10. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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      Query String
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    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)
    About This Section
    Entrez Gene: 509 HGNC: 833 AceView: ATP5C1 Ensembl:ENSG00000165629 euGenes: HUgn509
    ECgene: ATP5C1 Kegg: 509 H-InvDB: ATP5C1

    (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 ATP5C1 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 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



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