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ATP5C1 Gene

protein-coding   GIFtS: 63

GC10P007830
ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbols: ATP5CL1, ATP5C)
Products    

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

Aliases & Descriptions
ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 11 2     ATP synthase gamma chain, mitochondrial2
ATP5C2 3 5     ATP synthase subunit gamma, mitochondrial2
ATP5CL12 3 5     mitochondrial ATP synthase, gamma subunit 12
F-ATPase gamma subunit2 3     

External Ids:    HGNC: 8331   Entrez Gene: 5092   Ensembl: ENSG000001656297   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,
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)

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 60), Regulatory elements and Epigenetics data according to Qiagen and/or SABiosciences)
About This Section

Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ATP5C1 gene promoter:
         TBP   TFIID   RP58   PPAR-gamma2   PPAR-gamma1   ATF-2   CUTL1   POU2F1   NRSF form 2   NRSF form 1   
         Other transcription factors

   Search SABiosciences Chromatin IP Primers for ATP5C1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays for 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 gene densities for chromosome 10         GeneLoc Exon Structure

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

Start:
7,748,461 bp from pter
End:
7,768,132 bp from pter
Size:
19,672 bases
Orientation:
plus strand

1 alternative location:
Chr10+ 7,830,092-7,849,778     
RefSeq DNA sequence:
NC_000010.10  NT_008705.16  

(According to 1UniProtKB, neXtProt, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Millipore, Sigma-Aldrich, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, and/or ProSpec,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Dec 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, and/or Epitomics)
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
Subcellular location: Mitochondrion. Mitochondrion inner membrane; Peripheral membrane protein (By similarity)
Secondary accessions: A8KA31 Q5VYP3 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 phosphorylation sites using PhosphoSite2


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


    ENSEMBL proteins: 
    ENSP00000338568 ENSP00000349142 


    Human Recombinant Proteins 
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate (see all 2): ATP5C1
    GenScript Custom Purified and Recombinant Proteins Services for ATP5C1 
    Novus Biologicals Protein for ATP5C1
    Novus Biologicals Lysates for ATP5C1
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins

    5/7 Gene Ontology (GO) cellular component terms (GO ID links to tree view) (see all 7):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000275 mitochondrial proton-transporting ATP synthase complex, catalytic core F(1) NAS8227057
    GO:0005739 mitochondrion NAS8227057
    GO:0005743 mitochondrial inner membrane ISS--
    GO:0005753 mitochondrial proton-transporting ATP synthase complex IDA12110673
    GO:0005759 mitochondrial matrix EXP4517936
    About this table

    ATP5C1 for ontologies           About GeneDecksing



    Antibodies for ATP5C1: 
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Sigma-Aldrich Antibodies for ATP5C1
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    GenScript Custom Superior Antibodies Services for ATP5C1 
    Epitomics antibodies for ATP5C1

    Assays for ATP5C1: 
    Browse Kits and Assays available from Millipore
    Browse ELISAs at Sigma-Aldrich
    OriGene Custom Immunoassay Development 
    Browse OriGene Fluorogenic Cell Assay Kits 
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for ATP5C1 
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for ATP5C1 


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

    ATP5C1 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR000131 ATPase_F1-cplx_gsu

    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 UniProtKB, IUBMB,and/or Genatlas, Animal models from MGI Dec 24 2010,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich, microRNA from Sigma-Aldrich, Qiagen, SABiosciences, Clones from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, Cell Lines from GenScript, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene.)
    About This Section

    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

    Inhib.
    RNA:
        
    Browse for Gene Knock-down Tools from Millipore
    Browse Nano Scale siRNA at Sigma-Aldrich
    Sigma-Aldrich esiRNA and siRNA for ATP5C1
    Sigma-Aldrich shRNA for ATP5C1
    OriGene 29mer shRNA kits in GFP-retroviral vector (see all 3): ATP5C1
    OriGene shRNA RFP (see all 3): ATP5C1
    OriGene basic RS shRNA (see all 3): ATP5C1
    OriGene siRNA (see all 2): ATP5C1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of ATP5C1 
    miRNA:Sigma-Aldrich microRNA Mimics for ATP5C1
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of ATP5C1 
    1 SABiosciences Assays for microRNA that regulate ATP5C1:
    hsa-miR-626

    Gene
    Editing:
    Browse CompoZr Knockout ZFN at Sigma-Aldrich 

    Clones:Browse Clones for the Expression of Recombinant Proteins Available from Millipore
    Browse iPSC Reprogramming Factors at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): ATP5C1
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): ATP5C1
    OriGene untagged cDNA clones in CMV expression vector (see all 2): ATP5C1
    OriGene 3'-UTR clone (see all 2): ATP5C1 
    Browse MicroRNA Expression Plasmids 
    GenScript cDNA clones with any tag delivered in your preferred vector (see all 2): ATP5C1 
    Browse Sino Biological Human cDNA Clones

    Cell
    Lines:
      
    GenScript Custom overexpressing Cell Line Services for ATP5C1 

    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)

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

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

    ATP5C1 for ontologies           About GeneDecksing


    (Pathways according to Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB, Sets of similar genes according to GeneDecks, PCR Arrays from SABiosciences, Proteins Network according to SABiosciences, Sigma-Aldrich, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene).
    About This Section


    ATP5C1 for pathways           About GeneDecksing

    3 Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Pathways for  ATP5C1
        Purine Metabolism
    Oxidative Phosphorylation
    Mitochondrial Dysfunction

    5 Kegg Pathways  (Kegg details for ATP5C1):
        hsa00190 Oxidative phosphorylation
    hsa01100 Metabolic pathways
    hsa05010 Alzheimer's disease
    hsa05012 Parkinson's disease
    hsa05016 Huntington's disease

        SABiosciences Pathway-Focused PCR Array including ATP5C1: PAHS-008A 

        Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Molecular Interaction Network for ATP5C1
        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ATP5C1

    5/373 Interacting proteins for ATP5C1 (P365422 ENSP000003491423) via UniProtKB, MINT, and/or STRING (see all 373)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ATP5A1P257052, ENSP000002820503MINT-8079030 STRING: ENSP00000282050
    ATP5BP065762, ENSP000002620303MINT-8079030 STRING: ENSP00000262030
    ATP5F1P245392, ENSP000003587373MINT-8079030 STRING: ENSP00000358737
    ATP5LO759642, ENSP000003006883MINT-8079030 STRING: ENSP00000300688
    ATP5HO759472, ENSP000003015873MINT-8079030 STRING: ENSP00000301587
    About this table

    5/7 Gene Ontology (GO) biological process terms (GO ID links to tree view) (see all 7):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006119 oxidative phosphorylation NAS8227057
    GO:0006754 ATP biosynthetic process NAS8227057
    GO:0006811 ion transport IEA--
    GO:0015986 ATP synthesis coupled proton transport ----
    GO:0015992 proton transport IEA--
    About this table

    ATP5C1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section
    Browse Small Molecules at Sigma-Aldrich
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ATP5C1


    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 228 Homo sapiens; Dec 8 2010) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Millipore,
    siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene, microRNA from Sigma-Aldrich, Qiagen, SABiosciences,
    Tagged/untagged cDNA clones from OriGene, Sigma-Aldrich, GenScript, Primers from OriGene and/or SABiosciences)
    About This Section

    Inhib.
    RNA:
         
    Browse for Gene Knock-down Tools from Millipore
    Browse Nano Scale siRNA at Sigma-Aldrich
    Sigma-Aldrich esiRNA and siRNA for ATP5C1
    Sigma-Aldrich shRNA for ATP5C1
    OriGene 29mer shRNA kits in GFP-retroviral vector (see all 3): ATP5C1
    OriGene shRNA RFP (see all 3): ATP5C1
    OriGene basic RS shRNA (see all 3): ATP5C1
    OriGene siRNA (see all 2): ATP5C1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of ATP5C1 
    miRNA: Sigma-Aldrich microRNA Mimics for ATP5C1
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of ATP5C1 
    1 SABiosciences Assays for microRNA that regulate ATP5C1:
    hsa-miR-626
    Clones: Browse FLAG tag genes at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): ATP5C1
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): ATP5C1
    OriGene untagged cDNA clones in CMV expression vector (see all 2): ATP5C1
    OriGene 3'-UTR Clone (see all 2): ATP5C1 
    Browse OriGene MicroRNA Expression Plasmids 
    GenScript cDNA clones with any tag delivered in your preferred vector (see all 2): ATP5C1 
    Primers: OriGene genome-wide validated SYBR primer pairs: ATP5C1
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for ATP5C1: PPH12974A

    REFSEQ mRNAs for ATP5C1 gene (2 alternative transcripts): 

    NM_001001973.1  NM_005174.2  

    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 CR595574.1 CR606908.1 CR611688.1 CR612179.1 
    CR616512.1 CR619950.1 CR621366.1 D16562.1 D16563.1 

    24/41 DOTS entries (see all 41):

    DT.454044  DT.91773081  DT.91773071  DT.92376161  DT.95131607  DT.91861811  DT.100840908  DT.121229932 
    DT.95181724  DT.430382  DT.91773080  DT.100886416  DT.91989112  DT.121229902  DT.95181788  DT.100886401 
    DT.100886407  DT.100886424  DT.100886383  DT.100886423  DT.121229878  DT.91910082  DT.100039108  DT.121229881 

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

    BG232034 BQ008441 AA593335 BG751390 AA303584 BM667127 BP373317 BE379995 
    AW014811 BU687163 CN484048 BE887870 BU624741 BU193572 BM876134 CF127501 
    NM_005174 AV708508 BC013865 CA454345 N75011 BF794389 CB160195 AA298154 

    highest scoring ESTs for ATP5C1:

    D16562 AA022906 AA031962 AA032044 AA032164 AA043695 AA044100 AA074179 AA081042 AA083870 

    Unigene Cluster for ATP5C1:

    ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1
    Hs.271135  [show with all ESTs]
    Unigene Representative Sequence: BF131627


    GeneLoc Exon Structure

    5/10 Alternative Splicing Database (ASD) splice patterns (SP) for ATP5C1 (see all 10)

    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:                          -     -                       -     -     -                                                   

    About this scheme

    ECgene alternative splicing isoforms for ATP5C1
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000473809 ENST00000335698 ENST00000356708(uc009xiq.1 uc010qbc.1 uc001iju.2 uc001ijv.2)
    ENST00000460362 ENST00000493053 ENST00000472202(uc010qbb.1) ENST00000465936
    ENST00000460820 ENST00000480528 ENST00000462760

    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 228 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Primers from OriGene and/or SABiosciences )
    About This Section

    ATP5C1 expression in normal and diseased human tissues

    1  / 2  / 3

    7 probe-sets matching ATP5C1 gene

    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    40115_at2, 3 U95-A 2 1.00 0.97 1.00 1.00 D16562 1.00 1.00 1.00 1
    205711_x_at2, 3 U133-A 2 1.00 0.91 -- -- NM_005174 0.60 1.00 0.82 1
    208870_x_at2, 3 U133-A 2 0.91 0.90 -- -- BC000931 0.80 1.00 0.91 1
    213366_x_at2, 3 U133-A 2 0.91 0.90 -- -- AV711183 0.60 1.00 0.82 1
    205711_x_at2 U133Plus2 2 1.00 0.91 -- -- -- -- -- -- --
    208870_x_at2 U133Plus2 2 0.91 0.90 -- -- -- -- -- -- --
    213366_x_at2 U133Plus2 2 0.91 0.90 -- -- -- -- -- -- --
    About this table

    ATP5C1 for expression           About GeneDecksing

    Data from Genenote  (Publications) and GNF BioGPS
        About these images
    ATP5C1 gene expression
    ATP5C1 gene electronic northern expression
    ATP5C1 gene sage expression
    About these images

    CGAP SAGE TAG: GACAATGCCA

    SOURCE GeneReport for Unigene cluster: Hs.271135

    Expression variation in blood from EXPOLDB for ATP5C1

    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

    Primers: OriGene genome-wide validated SYBR primer pairs: ATP5C1
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for ATP5C1: PPH12974A
        SABiosciences Expression via Pathway-Focused PCR Array including ATP5C1: PAHS-008A 


    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Dec 24 2010, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section

    Orthologs for ATP5C1 gene from 5/22 species (see all 22)
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    ATP5C11   -- ATP synthase, H+ transporting, mitochondrial F1 complex, more 90.49(n)
    95.64(a)
    478009  XM_535193.2  XP_535193.2 
    chimpanzee
    (Pan troglodytes)
    ATP5C11   -- ATP synthase, H+ transporting, mitochondrial F1 complex, more 99.78(n)
    100(a)
    450294  XM_001149140.1  XP_001149140.1 
    cow
    (Bos taurus)
    ATP5C11   -- ATP synthase, H+ transporting, mitochondrial F1 complex, more 87.58(n)
    91.61(a)
    327668  NM_001075136.1  NP_001068604.1 
    rat
    (Rattus norvegicus)
    Atp5c11   -- ATP synthase, H+ transporting, mitochondrial F1 complex, more 85.35(n)
    90.27(a)
    116550  NM_053825.1  NP_446277.1 
    mouse
    (Mus musculus)
    Atp5c11 , 5 2 (6.86 cM)5
    ATP synthase, H+ transporting, mitochondrial F1 complex, more1, 5 87.36(n)1
    90.94(a)1
    119491  NM_020615.31  NP_065640.11 
     AA8706755  AI8366945  (see all 22)
    About this table        Species with no ortholog for ATP5C1

    ENSEMBL Gene Tree for ATP5C1 (if available)

    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section
    Pseudogenes
    1 related pseudogene



    (SNPs according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
    About This Section

    10/186 NCBI SNPs in ATP5C1 are shown (see all 186)
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidChr 10 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ----------
    rs46551,2
    C,F,O,A,7849688(+) GAAACT/CGTTCC 2 -- ut3111Minor allele frequency- C:0.38MN NS EA NA WA 1004
    rs7624521,2
    C,F,A,H,7845590(+) ACTTTA/GATGTT 2 -- int111Minor allele frequency- G:0.30NA EA WA 551
    rs7624531,2
    C,F,A,7845769(+) AAAACG/ATGTAG 2 -- int115Minor allele frequency- A:0.31NA EA NS WA 966
    rs9146091,2
    C,F,A,7846152(+) CAGAGC/TGCAGA 2 -- int114Minor allele frequency- T:0.07NS EA NA WA 622
    rs9329711,2
    C,F,A,H,7844195(+) CCTTCC/TATATA 2 -- int117Minor allele frequency- T:0.35EA NA NS WA 2262
    rs10574471,2
    C,A,7849312(+) ccagcT/Cagatt 2 -- int15Minor allele frequency- C:0.17NA EA WA 166
    rs11378071,2
    C,A,7847802(+) cccagC/Tatttt 2 -- int14Minor allele frequency- T:0.49MN NA WA 190
    rs11378081,2
    C,A,7847990(+) gctgcG/Agtgag 2 -- int16Minor allele frequency- A:0.50MN NA WA 312
    rs11391051,2
    C7847666(+) gattgC/Tgccac 2 -- int13Minor allele frequency- T:0.50NA WA 6
    rs12444141,2
    C,F,A,7836104(+) gtgtgC/Tgggca 2 -- int114Minor allele frequency- T:0.12NS EA NA WA 1190
    About this table

    HapMap Linkage Disequilibrium images for ATP5C1 (up to first 250kb)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for ATP5C1: --

    QIAGEN SeqTarget long-range PCR primers for resequencing ATP5C1 

    (in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, LSDB, HGMD, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    ATP5C1 for disorders           About GeneDecksing

    OMIM: 108729

    Human Genome Epidemiology (HuGE) Navigator: ATP5C1 (4 documents)

    Export disorders and mutations for ATP5C1 gene to outside databases

    (Possibly Related Articles in Doctor's Guide)
    About This Section
      --

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6UniProtKB/TrEMBL, and/or 7Novoseek)
    About This Section

    10/27 PubMed articles for ATP5C1 gene, integrated from 7 sources (see all 27):
    (articles sorted by number of sources associating them with ATP5C1)
    1. Gene structure of human mitochondrial ATP synthase gamma-subunit. Tissue specificity produced by alternative RNA splicing. (PubMed id 8227057)1, 2, 3, 7 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. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1 Hendrickson S.L....O'Brien S.J. (2010)
    6. Lysine acetylation targets protein complexes and co-regulates major cellular functions. (PubMed id 19608861)2 Choudhary C.... Mann M. (2009)
    7. Sequential use of transcriptional profiling, expressi on quantitative trait mapping, and gene association implicates MMP20 in human k idney aging. (PubMed id 19834535)1 Wheeler H.E....Kim S.K. (2009)
    8. Polymorphisms in mitochondrial genes and prostate can cer risk. (PubMed id 19064571)1 Wang L....Thibodeau S.N. (2008)
    9. Tissue-specific splicing regulator Fox-1 induces exon skipping by interfering E complex formation on the downstream intron of human F1gamma gene. (PubMed id 17686786)1 Fukumura K....Inoue K. (2007)
    10. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    (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 ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
      --

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from XenneX, Inc.)
    About This Section
    Patent Information for ATP5C1 gene:
    Search GeneIP for patents involving ATP5C1

    GeneCards and IP:
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