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

ATP5H Gene

protein-coding   GIFtS: 62
GCID: GC17M073034

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

(Previous names: ATP synthase, H+ transporting, mitochondrial F0 complex,...)
Alzheimer's & Parkinson's Diseases Congress
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
ATP Synthase, H+ Transporting, Mitochondrial Fo Complex, Subunit D1 2     ATP Synthase D Chain, Mitochondrial2
ATP Synthase, H+ Transporting, Mitochondrial F0 Complex, Subunit D1 2     ATP Synthase Subunit D, Mitochondrial2
ATPase Subunit D2 3     ATP Synthase, H+ Transporting, Mitochondrial F1F0, Subunit D2
ATPQ2     My032 Protein2

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 GC17M068445


(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 ATP5H Gene:
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, Jun 2010)

GeneCards Summary for ATP5H Gene: 
ATP5H (ATP synthase, H+ transporting, mitochondrial Fo complex, subunit d) is a protein-coding gene. Diseases associated with ATP5H include body dysmorphic disorder, and acute pancreatitis, and among its related super-pathways are Electron Transport Chain and adenosine ribonucleotides de novo biosynthesis. GO annotations related to this gene include hydrogen ion transmembrane transporter activity and ATPase activity.

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 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NC_018928.2  NT_010783.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ATP5H gene promoter:
         USF1   AML1a   Pbx1a   USF2   USF-1:USF-2   STAT5A   E47   GATA-2   RORalpha1   USF-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidATP5H promoter sequence
   Search SABiosciences Chromatin IP Primers for ATP5H

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat 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 information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M073034:  view genomic region     (about GC identifiers)

Start:
73,034,955 bp from pter      End:
73,043,080 bp from pter
Size:
8,126 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: 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). 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
Secondary accessions: B2R5L6 Q9H3J4
Alternative splicing: 2 isoforms:  O75947-1   O75947-2   

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

Explore proteomics data for ATP5H at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O75947

  • ATP5H Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ATP5H Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001003785.1  NP_006347.1  

    ENSEMBL proteins: 
     ENSP00000301587   ENSP00000344230   ENSP00000437996  
    Reactome Protein details: O75947
    Human Recombinant Protein Products for ATP5H: 
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    Cloud-Clone Corp. Proteins for ATP5H 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000276mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) IEA--
    GO:0005743mitochondrial inner membrane TAS--
    GO:0005753mitochondrial proton-transporting ATP synthase complex IDA12110673

    ATP5H for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    FATP: Mitochondrial respiratory chain complex / Complex V
    F1ATP: ATPases / F-type

    IUPHAR Guide to PHARMACOLOGY protein family classification: D 
    F-type ATPase

    1 InterPro protein domain:
     IPR008689 ATPase_F0-cplx_dsu_mt

    Graphical View of Domain Structure for InterPro Entry O75947

    ProtoNet protein and cluster: O75947

    1 Blocks protein domain: IPB008689 ATP synthase D chain

    UniProtKB/Swiss-Prot: ATP5H_HUMAN, O75947
    Similarity: Belongs to the ATPase d subunit family


    ATP5H for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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 Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0015078hydrogen ion transmembrane transporter activity IEA--
    GO:0016887contributes to ATPase activity IDA12110673
    GO:0022857transmembrane transporter activity IC12110673
         
    ATP5H for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for ATP5H:
     Decreased viability of wild-ty  Synthetic lethal with Ras 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for ATP5H 
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for ATP5H About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.0.81
    Parkinson's disease0.61
    Electron Transport Chain0.75
    Oxidative phosphorylation0.51
    The citric acid (TCA) cycle and respiratory electron transport0.72
    Huntington's disease0.47
    Oxidative phosphorylation0.64
    Alzheimer's disease0.46
    2adenosine ribonucleotides de novo biosynthesis
    adenosine ribonucleotides de novo biosynthesis0.49
    Formation of ATP by chemiosmotic coupling0.31
    superpathway of purine nucleotides de novo biosynthesis I0.49
    3Metabolism
    Metabolism0.40
    Metabolic pathways0.40
    4Doxorubicin Pathway (Cardiomyocyte Cell), Pharmacodynamics
    Doxorubicin Pathway (Cardiomyocyte Cell), Pharmacodynamics

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    4 BioSystems Pathways for ATP5H
        Electron Transport Chain
    Oxidative phosphorylation
    superpathway of purine nucleotides de novo biosynthesis I
    adenosine ribonucleotides de novo biosynthesis


    4        Reactome Pathways for ATP5H
        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 ATP5H
        Doxorubicin Pathway (Cardiomyocyte Cell), Pharmacodynamics

    5         Kegg Pathways  (Kegg details for ATP5H):
        Oxidative phosphorylation
    Metabolic pathways
    Alzheimer's disease
    Parkinson's disease
    Huntington's disease


    ATP5H for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ATP5H

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

    5/302 Interacting proteins for ATP5H (O759472, 3 ENSP000003015874) via UniProtKB, MINT, STRING, and/or I2D (see all 302)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ATP5F1P245392, 3, ENSP000003587374MINT-8079030 I2D: score=1 STRING: ENSP00000358737
    GET4Q7L5D62, 3MINT-65698 I2D: score=4 
    ICT1Q141972, 3, ENSP000003015854MINT-8079030 I2D: score=1 STRING: ENSP00000301585
    ATP5A1P257052, ENSP000002820504MINT-8079030 STRING: ENSP00000282050
    ATP5LO759642, ENSP000003006884MINT-8079030 STRING: ENSP00000300688
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006200ATP catabolic process IDA12110673
    GO:0015986ATP synthesis coupled proton transport ----
    GO:0022904respiratory electron transport chain TAS--
    GO:0042776mitochondrial ATP synthesis coupled proton transport TAS--
    GO:0044237cellular metabolic process TAS--

    ATP5H for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for ATP5H

    4 HMDB Compounds for ATP5H    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    PhosphateNFB Orthophosphate (see all 13)14265-44-2--
    WaterDihydrogen oxide (see all 2)7732-18-5--

    Search CenterWatch for drugs/clinical trials and news about ATP5H

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for ATP5H gene (2 alternative transcripts): 
    NM_001003785.1  NM_006356.2  

    Unigene Cluster for ATP5H:

    ATP synthase, H+ transporting, mitochondrial Fo complex, subunit d
    Hs.514465  [show with all ESTs]
    Unigene Representative Sequence: BU183031
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000580649 ENST00000301587(uc002jmn.1) ENST00000344546(uc002jmo.1)
    ENST00000538432 ENST00000582341

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    Additional mRNA 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):

    BF869949 AV726932 BQ231743 BM453972 AI126452 BM704894 AK095671 BQ416658 
    BQ129295 AI138974 AW190632 BU753939 AJ705692 CB994924 AI031613 NM_006356 
    AI355171 AW205535 AA045330 CF552186 F29357 BQ416965 CB991990 AI445725 

    GeneLoc Exon Structure


    (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

    ATP5H expression in normal human tissues (normalized intensities)      ATP5H embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    ATP5H Expression
    About this image


    ATP5H expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/42 selected tissues (see all 42) fully expand
     
     Brain (Nervous System)    fully expand to see all 6 entries
             Cerebral Cortex
             brain/midbrain   
     
     Epithelium
             vagina ; squamous epithelial cells   
     
     Uterus
             uterus, post-menopause ; glandular cells   
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 3 entries
             colon ; peripheral nerve/ganglion   

    See ATP5H Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ATP5H

    SOURCE GeneReport for Unigene cluster: Hs.514465
        SABiosciences Expression via Pathway-Focused PCR Array including ATP5H: 
              Mitochondrial Energy Metabolism in human mouse rat

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATP5H

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for ATP5H gene from 6/17 species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Atp5h5 ATP synthase, H+ transporting, mitochondrial F0 complex, more   --   11 (80.84 cM) 115415689 
    chicken
    (Gallus gallus)
    Aves ATP5H1 ATP synthase, H+ transporting, mitochondrial Fo complex, more 68.53(n)
    60.25(a)
      422115  XM_001232598.1  XP_001232599.1 
    lizard
    (Anolis carolinensis)
    Reptilia ATP5H6
    Uncharacterized protein
    58(a)
    1 ↔ 1
    2(114897975-114903576)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.239012 Xenopus laevis transcribed sequence with weak similarity more 74.23(n)    48016631 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc730712 hypothetical protein MGC73071 77.92(n)   393675  BC059446.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta ATPsyn-d1 , 3 hydrogen-transporting two-sector
    ATPase3
    ATP synthase, subunit d1
    45(a)3
    53.21(n)1
    45.34(a)1
      3 91F13
    422911  NM_079678.51  NP_524402.11 


    ENSEMBL Gene Tree for ATP5H (if available)
    TreeFam Gene Tree for ATP5H (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ATP5H gene

    ATP5H for paralogs           About GeneDecksing


    4 Pseudogenes.org Pseudogenes for ATP5H
    PGOHUM00000239512 PGOHUM00000246766 PGOHUM00000235945 PGOHUM00000236389


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/171 SNPs in ATP5H are shown (see all 171)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1925018791,2
    --73034738(+) CTACAC/TCACAG 2 -- ds50010--------
    rs284384651,2
    C,F,H--73034815(+) GTGGCG/ACCTAC 2 -- ds500110Minor allele frequency- A:0.14NS NA WA CSA 1016
    rs556420521,2
    C,F--73034818(+) GCGCCT/CACACA 2 -- ds50014Minor allele frequency- C:0.13WA CSA 126
    rs1154697101,2
    C,F--73034962(+) CTGTAT/CAATTA 2 -- ut311Minor allele frequency- C:0.04WA 118
    rs1448570951,2
    C--73034979(+) TTAATA/GTCCAG 2 -- ut310--------
    rs69681,2
    C,F,O,H--73035107(-) AGGACT/CTGAAT 4 /L syn116Minor allele frequency- C:0.04NA NS EA WA CSA EU 6635
    rs1112998401,2
    C--73035161(+) CATCTC/GGAAAG 2 -- int11Minor allele frequency- G:0.00CSA 1
    rs2014658901,2
    C--73035163(+) TCTGGA/GAAGAG 2 -- int10--------
    rs1485797881,2
    C--73035200(+) AGAGAC/TGGAAA 2 -- int10--------
    rs2004126151,2
    --73035208(+) AAAGCA/CGAATA 2 -- int10--------

    HapMap Linkage Disequilibrium report for ATP5H (73034955 - 73043080 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for ATP5H:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv1720628CNV Deletion17803354
    esv2716235CNV Deletion23290073
    esv2566082CNV Deletion19546169
    nsv112456CNV Loss16902084
    nsv908744CNV Loss21882294
    nsv908753CNV Loss21882294

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    8 diseases for ATP5H:    About MalaCards
    body dysmorphic disorder    acute pancreatitis    huntington's disease    parkinson's disease
    schizophrenia    colon cancer    pancreatitis    alzheimer's disease

    1 disease from the University of Copenhagen DISEASES database for ATP5H:
    Body dysmorphic disorder

    ATP5H for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
    Genetic Association Database (GAD): ATP5H
    Human Genome Epidemiology (HuGE) Navigator: ATP5H (1 document)

    Export disorders for ATP5H 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 ATP5H gene, integrated from 9 sources (see all 31):
    (articles sorted by number of sources associating them with ATP5H)
        Utopia: connect your pdf to the dynamic
    world of online information

    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. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (2010)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. The novel ubiquitin ligase complex, SCF(Fbxw4), intera cts with the COP9 signalosome in an F-box dependent manner, is mutated, lost and under-expressed in human cancers. (PubMed id 23658844)1 Lockwood W.W....Beverly L.J. (2013)
    6. SGTA recognizes a noncanonical ubiquitin-like domain i n the Bag6-Ubl4A-Trc35 complex to promote endoplasmic reticulum-associated degra dation. (PubMed id 23246001)1 Xu Y....Ye Y. (2012)
    7. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    8. Global landscape of HIV-human protein complexes. (PubMed id 22190034)1 Jager S....Krogan N.J. (2012)
    9. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    10. 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)

    (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: 10476 HGNC: 845 AceView: ATP5H Ensembl:ENSG00000167863 euGenes: HUgn10476
    ECgene: ATP5H Kegg: 10476 H-InvDB: ATP5H

    (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 ATP5H 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 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



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     Regulatory tfbs in ATP5H promoter
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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