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ATP5H Gene

protein-coding   GIFtS: 56

GC17M068445
ATP synthase, H+ transporting, mitochondrial Fo complex, subunit d
(Previous names: ATP synthase, H+ transporting, mitochondrial F0 complex, subunit d )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
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 Fo complex, subunit d1 2     ATP synthase, H+ transporting, mitochondrial F1F0, subunit d2
ATPQ1 2     ATP synthase subunit d, mitochondrial2
ATP synthase, H+ transporting, mitochondrial F0 complex, subunit d1 2     ATP synthase D chain, mitochondrial2
ATPase subunit d2 3     My032 protein2
ATP5JD1     

External Ids:    HGNC: 8451   Entrez Gene: 104762   Ensembl: ENSG000001678637   UniProtKB: O759473   

Export aliases for ATP5H gene to outside databases

Previous GC identifers: GC17P072954 GC17M076094 GC17M073499 GC17M073632 GC17M070546 GC17M073034


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

Entrez Gene summary for ATP5H:
Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner
membrane during oxidative phosphorylation. It is composed of two linked multi-subunit complexes: the soluble catalytic
core, F1, and the membrane-spanning component, Fo, which comprises the proton channel. The F1 complex consists of 5
different subunits (alpha, beta, gamma, delta, and epsilon) assembled in a ratio of 3 alpha, 3 beta, and a single
representative of the other 3. The Fo seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes
the d subunit of the Fo complex. Alternatively spliced transcript variants encoding different isoforms have been
identified for this gene. In addition, three pseudogenes are located on chromosomes 9, 12 and 15. (provided by RefSeq)

UniProtKB/Swiss-Prot: ATP5H_HUMAN, O75947
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 and the peripheric stalk, which acts as a stator to
hold the catalytic alpha(3)beta(3) subcomplex and subunit a/ATP6 static relative to the rotary elements

Gene Wiki entry for ATP5H

(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 ATP5H gene promoter:
         FOXC1   RORalpha2   Hlf   STAT5B   Lmo2   ZID   PPAR-gamma2   PPAR-gamma1   Max1   E47   
         Other transcription factors

   Search SABiosciences Chromatin IP Primers for ATP5H

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays for ATP5H 


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

Entrez Gene cytogenetic band: 17q25   Ensembl cytogenetic band:  17q25.1   HGNC cytogenetic band: 17q25

ATP5H Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ATP5H gene location

GeneLoc gene densities for chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M068445:  view genomic region     (about GC identifiers)

Start:
68,445,036 bp from pter
End:
68,452,842 bp from pter
Size:
7,807 bases
Orientation:
minus strand

1 alternative location:
Chr17- 73,034,955-73,043,074     
RefSeq DNA sequence:
NC_000017.10  NT_010783.15  

(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: ATP5H_HUMAN, O75947 (See protein sequence)
Recommended Name: ATP synthase subunit d, mitochondrial  
Size: 161 amino acids; 18491 Da
Subunit: F-type ATPases have 2 components, CF(1) - the catalytic core - and CF(0) - the membrane proton channel. CF(0)
seems to have nine subunits: a, b, c, d, e, f, g, F6 and 8 (or A6L)
Subcellular location: Mitochondrion. Mitochondrion inner membrane
Secondary accessions: B2R5L6 Q9H3J4
Alternative splicing: 2 isoforms:  O75947-1   O75947-2   

Explore the universe of human proteins at neXtProt for ATP5H: NX_O75947 

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins (2 alternative transcripts): 
    NP_001003785.1  NP_006347.1  


    ENSEMBL proteins: 
    ENSP00000301587 ENSP00000344230 


    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
    OriGene Purified Protein: ATP5H
    OriGene Protein Over-expression Lysate: ATP5H
    GenScript Custom Purified and Recombinant Proteins Services for ATP5H 
    Novus Biologicals Protein for ATP5H
    Novus Biologicals Lysates for ATP5H
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins

    5 Gene Ontology (GO) cellular component terms (GO ID links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000276 mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) IEA--
    GO:0005739 mitochondrion IEA--
    GO:0005743 mitochondrial inner membrane IDA19016746
    GO:0005753 mitochondrial proton-transporting ATP synthase complex IDA12110673
    GO:0016020 membrane IEA--
    About this table

    ATP5H for ontologies           About GeneDecksing



    Antibodies for ATP5H: 
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Sigma-Aldrich Antibodies for ATP5H
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    GenScript Custom Superior Antibodies Services for ATP5H 
    Novus Biologicals Antibodies for ATP5H
    Browse antibodies at Epitomics

    Assays for ATP5H: 
    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 ATP5H 
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for ATP5H 


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

    ATP5H for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR008689 ATPase_F0-cplx_dsu_mt

    Graphical View of Domain Structure for InterPro Entry O75947

    ProtoNet protein and cluster: O75947

    1 Blocks protein family: IPB008689 ATP synthase D chain

    UniProtKB/Swiss-Prot: ATP5H_HUMAN, O75947
    Similarity: Belongs to the ATPase d subunit 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: ATP5H_HUMAN, O75947
    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 and the peripheric stalk, which acts as a stator to
    hold the catalytic alpha(3)beta(3) subcomplex and subunit a/ATP6 static relative to the rotary elements

    Inhib.
    RNA:
        
    Browse for Gene Knock-down Tools from Millipore
    Browse Nano Scale siRNA at Sigma-Aldrich
    Sigma-Aldrich esiRNA and siRNA for ATP5H
    Sigma-Aldrich shRNA for ATP5H
    OriGene 29mer shRNA kits in GFP-retroviral vector (see all 3): ATP5H
    OriGene shRNA RFP (see all 3): ATP5H
    OriGene basic RS shRNA (see all 3): ATP5H
    OriGene siRNA (see all 3): ATP5H
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of ATP5H 
    miRNA:Sigma-Aldrich microRNA Mimics for ATP5H
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of ATP5H 
    Search SABiosciences for Assays for microRNAs that regulate ATP5H

    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): ATP5H
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): ATP5H
    OriGene untagged cDNA clones in CMV expression vector (see all 3): ATP5H
    OriGene 3'-UTR clone (see all 2): ATP5H 
    Browse MicroRNA Expression Plasmids 
    GenScript cDNA clones with any tag delivered in your preferred vector (see all 2): ATP5H 
    Browse Sino Biological Human cDNA Clones

    Cell
    Lines:
      
    GenScript Custom overexpressing Cell Line Services for ATP5H 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0015078 hydrogen ion transmembrane transporter activity IEA--
    GO:0016887contributes to ATPase activity IDA12110673
    GO:0022857 transmembrane transporter activity IC12110673
    About this table

    ATP5H 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


    ATP5H for pathways           About GeneDecksing

    2 Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Pathways for  ATP5H
        Purine Metabolism
    Oxidative Phosphorylation

    5 Kegg Pathways  (Kegg details for ATP5H):
        hsa00190 Oxidative phosphorylation
    hsa01100 Metabolic pathways
    hsa05010 Alzheimer's disease
    hsa05012 Parkinson's disease
    hsa05016 Huntington's disease

        SABiosciences Pathway-Focused PCR Array including ATP5H: PAHS-008A 

        Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Molecular Interaction Network for ATP5H
        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ATP5H

    5/249 Interacting proteins for ATP5H (O759472 ENSP000003015873) via UniProtKB, MINT, and/or STRING (see all 249)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ATP5F1P245392, ENSP000003587373MINT-8079030 STRING: ENSP00000358737
    ATP5C1P365422, ENSP000003491423MINT-8079030 STRING: ENSP00000349142
    ATP5A1P257052, ENSP000002820503MINT-8079030 STRING: ENSP00000282050
    ATP5LO759642, ENSP000003006883MINT-8079030 STRING: ENSP00000300688
    ATP5BP065762, ENSP000002620303MINT-8079030 STRING: ENSP00000262030
    About this table

    4 Gene Ontology (GO) biological process terms (GO ID links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006811 ion transport IEA--
    GO:0015986 ATP synthesis coupled proton transport ----
    GO:0022904 respiratory electron transport chain TAS--
    GO:0042776 mitochondrial ATP synthesis coupled proton transport TAS--
    About this table

    ATP5H 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 ATP5H


    (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 ATP5H
    Sigma-Aldrich shRNA for ATP5H
    OriGene 29mer shRNA kits in GFP-retroviral vector (see all 3): ATP5H
    OriGene shRNA RFP (see all 3): ATP5H
    OriGene basic RS shRNA (see all 3): ATP5H
    OriGene siRNA (see all 3): ATP5H
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of ATP5H 
    miRNA: Sigma-Aldrich microRNA Mimics for ATP5H
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of ATP5H 
    Search SABiosciences for Assays for microRNAs that regulate ATP5H
    Clones: Browse FLAG tag genes at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): ATP5H
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): ATP5H
    OriGene untagged cDNA clones in CMV expression vector (see all 3): ATP5H
    OriGene 3'-UTR Clone (see all 2): ATP5H 
    Browse OriGene MicroRNA Expression Plasmids 
    GenScript cDNA clones with any tag delivered in your preferred vector (see all 2): ATP5H 
    Primers: OriGene genome-wide validated SYBR primer pairs: ATP5H
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for ATP5H: PPH12984A

    REFSEQ mRNAs for ATP5H gene (2 alternative transcripts): 

    NM_001003785.1  NM_006356.2  

    Additional cDNA sequence: 

    AF061735.1 AF070650.1 AF086159.1 AF087135.1 AK312230.1 BC029392.1 BC032245.1 BC038092.2 

    10 DOTS entries:

    DT.317775  DT.100818121  DT.100008785  DT.99962458  DT.121003655  DT.95156789  DT.92435771  DT.100735396 
    DT.102838148  DT.121080673 

    24/255 AceView cDNA sequences (see all 255):

    AA186411 BU956650 AW190632 NM_001003785 AI445725 BM704894 AI311103 AI139507 
    W80968 F26867 AI031613 AA974366 BQ416965 BQ416658 AV726932 AK095671 
    AI355171 AF086159 AW206213 BM453972 NM_006356 BM928793 CD106958 AW205535 

    highest scoring ESTs for ATP5H:

    AF087135 AF061735 AF070650 AI133096 AL110319 BC029392 BC032245 BC038092 BF083095 BF568842 

    Unigene Cluster for ATP5H:

    ATP synthase, H+ transporting, mitochondrial Fo complex, subunit d
    Hs.514465  [show with all ESTs]
    Unigene Representative Sequence: BU183031


    GeneLoc Exon Structure

    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000301587(uc002jmn.1) ENST00000344546(uc002jmo.1)

    (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

    ATP5H expression in normal and diseased human tissues

    1  / 2  / 3

    4 probe-sets matching ATP5H gene

    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    35760_at2, 3 U95-A 1 1.00 1.00 1.00 1.00 AF087135 1.00 1.00 1.00 1
    210149_s_at2, 3 U133-A 2 1.00 0.95 -- -- AF061735 0.80 1.00 0.91 1
    210149_s_at2 U133Plus2 2 1.00 0.95 -- -- -- -- -- -- --
    1555998_at2 U133Plus2 1 0.64 1.00 -- -- -- -- -- -- --
    About this table

    ATP5H for expression           About GeneDecksing

    Data from Genenote  (Publications) and GNF BioGPS
        About these images
    ATP5H gene expression
    ATP5H gene electronic northern expression
    ATP5H gene sage expression
    About these images

    CGAP SAGE TAG: --

    SOURCE GeneReport for Unigene cluster: Hs.514465

    Expression variation in blood from EXPOLDB for ATP5H

    Primers: OriGene genome-wide validated SYBR primer pairs: ATP5H
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for ATP5H: PPH12984A
        SABiosciences Expression via Pathway-Focused PCR Array including ATP5H: 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 ATP5H gene from 5/11 species (see all 11)
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    LOC4782521   -- similar to ATP synthase, H+ transporting, mitochondrial more 90.89(n)
    91.3(a)
    478252  XM_535426.2  XP_535426.1 
    chimpanzee
    (Pan troglodytes)
    ATP5H1   -- ATP synthase, H+ transporting, mitochondrial F0 complex, more 100(n)
    100(a)
    736468  XM_001138674.1  XP_001138674.1 
    cow
    (Bos taurus)
    ATP5H1   -- ATP synthase, H+ transporting, mitochondrial F0 complex, more 89.03(n)
    88.2(a)
    282710  NM_174724.3  NP_777149.1 
    chicken
    (Gallus gallus)
    ATP5H1   -- ATP synthase, H+ transporting, mitochondrial F0 complex, more 68.53(n)
    60.25(a)
    422115  XM_420118.1  XP_420118.1 
    zebrafish
    (Danio rerio)
    zgc730712   -- hypothetical protein MGC73071 77.92(n) 393675  BC059446.1 
    About this table        Species with no ortholog for ATP5H

    ENSEMBL Gene Tree for ATP5H (if available)

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



    (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

    10/75 NCBI SNPs in ATP5H are shown (see all 75)
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidChr 17 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ----------
    rs69681,2
    C,F,O,73035107(-) AGGACT/CTGAAT 4 /L syn1 ref18Minor allele frequency- C:0.04NA NS EA 638
    rs96601,2
    C,F,A,73038746(-) CCCAAA/GATGGC 2 -- ut5113Minor allele frequency- G:0.43NS EA NA WA 722
    rs14666811,2
    C,F,A,73041055(+) TTACCA/CGGGAA 2 -- int17Minor allele frequency- C:0.38NS EA NA 458
    rs18024621,2
    --73035044(-) ACCAAA/CCAATT 4 T P mis1 ref10--------
    rs18024631,2
    --73035092(-) CTTTCC/TCAGAA 4 P S ref1 mis10--------
    rs18024641,2
    --73035364(-) GATGTC/GAAATC 4 V syn1 ref10--------
    rs18024651,2
    --73035054(-) TATTGC/GCCTCA 4 C W mis1 ref10--------
    rs22915351,2
    C,F,H,73035503(-) TGAGCG/ACCCCC 2 -- int116Minor allele frequency- A:0.34EA NS NA 4098
    rs44352921,2
    C,F,A,73035793(-) AAGGAG/ATTGGA 2 -- int119Minor allele frequency- A:0.20NS EA NA 1324
    rs47888581,2
    C73039333(+) aaaGGA/CCAGTG 2 -- int1 trp33Minor allele frequency- C:0.00EA NS 280
    About this table

    HapMap Linkage Disequilibrium images for ATP5H (up to first 250kb)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 3 variations for ATP5H
         1 CNV: 102534
         2 Indels: 11898 25918

    QIAGEN SeqTarget long-range PCR primers for resequencing ATP5H 

    (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

    ATP5H for disorders           About GeneDecksing

    Human Genome Epidemiology (HuGE) Navigator: ATP5H (1 document)

    Export disorders and mutations for ATP5H 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

    10/21 PubMed articles for ATP5H gene, integrated from 7 sources (see all 21):
    (articles sorted by number of sources associating them with ATP5H)
    1. Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. (PubMed id 11042152)1, 2, 3 Zhang Q.-H.... Chen Z. (2000)
    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. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1 Hendrickson S.L....O'Brien S.J. (2010)
    5. Lysine acetylation targets protein complexes and co-regulates major cellular functions. (PubMed id 19608861)2 Choudhary C.... Mann M. (2009)
    6. Proteomic analysis of dorsolateral prefrontal cortex indicates the involvement of cytoskeleton, oligodendrocyte, energy metabolism and new potential markers in schizophrenia. (PubMed id 19110265)1 Martins-de-Souza D....Dias-Neto E. (2008)
    7. Identification of mitochondrial F(1)F(0)-ATP synthase interacting with galectin-3 in colon cancer cells. (PubMed id 19016746)1 Kim D.W....Park J.G. (2008)
    8. A human protein-protein interaction network: a resource for annotating the proteome. (PubMed id 16169070)1 Stelzl U.... Wanker E.E. (2005)
    9. Molecular motors: turning the ATP motor. (PubMed id 14749816)1 Cross R.L. (2004)
    10. Understanding ATP synthesis: structure and mechanism of the F1-ATPase (Review). (PubMed id 12745923)1 Leyva J.A....Amzel L.M. (2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 10476 HGNC: 845 AceView: ATP5H Ensembl:ENSG00000167863 euGenes: HUgn10476
    ECgene: ATP5H Kegg: 10476 H-InvDB: ATP5H

    (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 ATP5H gene:
    Search GeneIP for patents involving ATP5H

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



    (Antibodies, recombinant proteins, and assays by Millipore, Sigma-Aldrich, R&D Systems, Qiagen, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Epitomics, ProSpec, Uscn,
    Clones available from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, PCR Arrays from SABiosciences, Drugs and/or compounds by Sigma-Aldrich, Tocris Bioscience, and/or Enzo Life Sciences)
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     Millipore Custom Antibody & Bulk Services
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     Regulatory tfbs in ATP5H promoter
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     ELISAs and CLIAs for ATP5H
           

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