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

ATP5D Gene

protein-coding   GIFtS: 61
GCID: GC19P001241

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

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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 F1 Complex, Delta
Subunit1 2
F-ATPase Delta Subunit2 3
ATP Synthase Subunit Delta, Mitochondrial2
Mitochondrial ATP Synthase Complex Delta-Subunit Precusor2
Mitochondrial ATP Synthase, Delta Subunit2

External Ids:    HGNC: 8371   Entrez Gene: 5132   Ensembl: ENSG000000996247   OMIM: 6031505   UniProtKB: P300493   

Export aliases for ATP5D gene to outside databases

Previous GC identifers: GC19P001299 GC19P001182 GC19P001192 GC19P001016


(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 ATP5D Gene:
This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis,
utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP
synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the
membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP
synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry
of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main
subunits (a, b, c). This gene encodes the delta subunit of the catalytic core. Alternatively spliced transcript
variants encoding the same isoform have been identified. (provided by RefSeq, Jul 2008)

GeneCards Summary for ATP5D Gene: 
ATP5D (ATP synthase, H+ transporting, mitochondrial F1 complex, delta subunit) is a protein-coding gene. Diseases associated with ATP5D include peutz-jeghers syndrome, and huntington's disease, and among its related super-pathways are Electron Transport Chain and adenosine ribonucleotides de novo biosynthesis. GO annotations related to this gene include transmembrane transporter activity and transporter activity.

UniProtKB/Swiss-Prot: ATPD_HUMAN, P30049
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 turnover 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 of the
central stalk which is part of the complex rotary element. 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 ATP5D 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_000019.9  NC_018930.2  NT_011255.14  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ATP5D gene promoter:
         COUP-TF1   Pax-5   Brachyury   COUP   Lmo2   HNF-4alpha2   Nkx2-5   HNF-4alpha1   AREB6   COUP-TF   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidATP5D promoter sequence
   Search SABiosciences Chromatin IP Primers for ATP5D

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ATP5D


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

Entrez Gene cytogenetic band: 19p13.3   Ensembl cytogenetic band:  19p13.3   HGNC cytogenetic band: 19p13.3

ATP5D Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ATP5D gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P001241:  view genomic region     (about GC identifiers)

Start:
1,241,749 bp from pter      End:
1,244,824 bp from pter
Size:
3,076 bases      Orientation:
plus 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: ATPD_HUMAN, P30049 (See protein sequence)
Recommended Name: ATP synthase subunit delta, mitochondrial precursor  
Size: 168 amino acids; 17490 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) 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: D6W5Y3 Q6FG90

Explore the universe of human proteins at neXtProt for ATP5D: NX_P30049

Explore proteomics data for ATP5D at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P30049

  • ATP5D Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ATP5D Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001001975.1  NP_001678.1  

    ENSEMBL proteins: 
     ENSP00000215375   ENSP00000464863   ENSP00000378995  
    Reactome Protein details: P30049
    Human Recombinant Protein Products for ATP5D: 
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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) NAS12539966
    GO:0005739mitochondrion NAS12887009
    GO:0005743mitochondrial inner membrane ISS--
    GO:0005753mitochondrial proton-transporting ATP synthase complex NAS1531933
    GO:0005759mitochondrial matrix TAS--

    ATP5D 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: &delta 
    F-type ATPase

    3 InterPro protein domains:
     IPR020546 ATPase_F1-cplx_dsu/esu_N
     IPR001469 ATPase_F1-cplx_dsu/esu
     IPR020547 ATPase_F1-cplx_dsu/esu_C

    Graphical View of Domain Structure for InterPro Entry P30049

    ProtoNet protein and cluster: P30049

    1 Blocks protein domain: IPB001469 H+-transporting two-sector ATPase

    UniProtKB/Swiss-Prot: ATPD_HUMAN, P30049
    Similarity: Belongs to the ATPase epsilon chain family


    ATP5D 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: ATPD_HUMAN, P30049
    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 turnover 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 of the
    central stalk which is part of the complex rotary element. 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 Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005215transporter activity NAS1531933
    GO:0005524contributes to ATP binding NAS12539966
    GO:0016887contributes to ATPase activity IDA12110673
    GO:0022857transmembrane transporter activity IC12110673
    GO:0043531contributes to ADP binding NAS12539966
         
    ATP5D for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for ATP5D:
     Increased gamma-H2AX phosphory 

    Animal Models:
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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 ATP5D 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 ATP5D
        Electron Transport Chain
    Oxidative phosphorylation
    superpathway of purine nucleotides de novo biosynthesis I
    adenosine ribonucleotides de novo biosynthesis


    4        Reactome Pathways for ATP5D
        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 ATP5D
        Doxorubicin Pathway (Cardiomyocyte Cell), Pharmacodynamics

    5         Kegg Pathways  (Kegg details for ATP5D):
        Oxidative phosphorylation
    Metabolic pathways
    Alzheimer's disease
    Parkinson's disease
    Huntington's disease


    ATP5D for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ATP5D

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

    5/72 Interacting proteins for ATP5D (P300493 ENSP000002153754) via UniProtKB, MINT, STRING, and/or I2D (see all 72)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ATP5BP065763, ENSP000002620304I2D: score=1 STRING: ENSP00000262030
    PSMD6Q150083, ENSP000002959014I2D: score=1 STRING: ENSP00000295901
    ATP5F1P245393, ENSP000003587374I2D: score=1 STRING: ENSP00000358737
    SGK1O001413, ENSP000003568324I2D: score=1 STRING: ENSP00000356832
    ATP5G1P054963, ENSP000003482054I2D: score=1 STRING: ENSP00000348205
    About this table

    Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006119oxidative phosphorylation NAS12539966
    GO:0006200ATP catabolic process NAS12539966
    GO:0006754ATP biosynthetic process NAS12539966
    GO:0015986ATP synthesis coupled proton transport ----
    GO:0022904respiratory electron transport chain TAS--

    ATP5D 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 ATP5D (ATPD)

    4 HMDB Compounds for ATP5D    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--

    6 DrugBank Compounds for ATP5D    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    DesfluraneDesflurano [INN-Spanish] (see all 2)57041-67-5targetother/unknown17139284 8214757 17016423
    EnfluraneAnesthetic 347 (see all 7)13838-16-9targetother/unknown17139284 8214757 17016423
    Halothane2-Bromo-2-Chloro-1,1,1-Trifluoroethane (see all 14)151-67-7targetother/unknown17139284 17016423
    Isoflurane-- 26675-46-7targetunknown17139284 17016423
    MethoxyfluraneMethoflurane (see all 11)76-38-0targetunknown17139284 17016423
    SevofluraneSevofluran (see all 3)28523-86-6targetother/unknown17139284 17016423

    Search CenterWatch for drugs/clinical trials and news about ATP5D / ATPD

    (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 ATP5D gene (2 alternative transcripts): 
    NM_001001975.1  NM_001687.4  

    Unigene Cluster for ATP5D:

    ATP synthase, H+ transporting, mitochondrial F1 complex, delta subunit
    Hs.418668  [show with all ESTs]
    Unigene Representative Sequence: BM917488
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000215375(uc002lro.3) ENST00000592624 ENST00000590265 ENST00000588538
    ENST00000591660 ENST00000591249 ENST00000589478 ENST00000395633(uc002lrn.3)


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    Additional mRNA sequence: 

    BC002389.2 BC004426.1 BC018079.1 BC018817.2 BC050458.1 BC058927.1 CR542218.1 S87916.1 
    S87918.1 X63422.1 

    12 DOTS entries:

    DT.100742483  DT.92441282  DT.95377946  DT.97863295  DT.100742471  DT.95378161  DT.100742519  DT.121438806 
    DT.75122972  DT.97864854  DT.100041195  DT.95335644 

    24/278 AceView cDNA sequences (see all 278):

    BU175642 BC058927 BM821441 BM768560 AL555837 AJ713747 BG740842 BM738726 
    BC050458 CR602770 BM920003 AL548640 CR605033 BE747335 C01182 AL520960 
    BI834264 BU175022 AK094357 BM829921 BU624116 AL556777 NM_001687 AJ572768 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for ATP5D    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c · 5d
    SP1:              -                       -                           
    SP2:              -                       -     -                     
    SP3:              -                                                   
    SP4:                                      -     -                     
    SP5:                                                                  


    ECgene alternative splicing isoforms for ATP5D

    (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

    ATP5D expression in normal human tissues (normalized intensities)      ATP5D embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTGGACCTGG
    ATP5D Expression
    About this image


    ATP5D expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/20 selected tissues (see all 20) fully expand
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebral Cortex
             brain/forebrain/telencephalon   
     
     Bone (Muscoskeletal System)    fully expand to see all 2 entries
             Membranous Facial Bones
             skeleton/cranium   
     
     Heart (Cardiovascular System)    fully expand to see all 2 entries
             heart/ventricle   
     
     Limb (Muscoskeletal System)    fully expand to see all 2 entries
             limb/hindlimb   
     
     Gut Tube (Gastrointestinal Tract)
             Foregut

    See ATP5D Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ATP5D

    SOURCE GeneReport for Unigene cluster: Hs.418668
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    In Situ
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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 common ancestor of animals and fungi.

    Orthologs for ATP5D gene from 8/22 species (see all 22)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Atp5d1 , 5 ATP synthase, H+ transporting, mitochondrial F1 complex, more1, 5 80.36(n)1
    86.31(a)1
      10 (39.72 cM)5
    660431  NM_025313.21  NP_079589.21 
     801386325 
    chicken
    (Gallus gallus)
    Aves LOC7714781 ATP synthase subunit delta, mitochondrial-like 76.42(n)
    73.98(a)
      771478  XM_001234759.2  XP_001234760.2 
    lizard
    (Anolis carolinensis)
    Reptilia ATP5D6
    ATP synthase, H+ transporting, mitochondrial F1 co...
    59(a)
    1 ↔ 1
    AAWZ02039288(2225-8807)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.237162 Xenopus laevis transcribed sequence with moderate similarity more 75.97(n)    BJ623107.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufk58f092 wufk58f09 76.39(n)   335709  BC059627.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta l(1)G02301 lethal (1) G0230 54.47(n)
    49.02(a)
      31950  NM_132382.2  NP_572610.1 
    worm
    (Caenorhabditis elegans)
    Secernentea F58F12.11 Protein F58F12.1 51.3(n)
    52.48(a)
      174059  NM_062885.4  NP_495286.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ATP16(YDL004W)4
    ATP161
    Delta subunit of the central stalk of mitochondrial more4
    Atp16p1
    44.68(n)1
    37.59(a)1
      4(443029-443511)4
    8515601, 4  NP_010280.11, 4 


    ENSEMBL Gene Tree for ATP5D (if available)
    TreeFam Gene Tree for ATP5D (if available)

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

    (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

    10/128 SNPs in ATP5D are shown (see all 128)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1871021891,2
    --1239992(+) TGGCCC/TGAACA 2 -- us2k10--------
    rs1131655061,2
    F--1240021(+) GCAGCC/TTCCGG 2 -- us2k12Minor allele frequency- T:0.02CSA WA 120
    rs1172118441,2
    C,F--1240062(+) GCCCAC/GAGCAG 2 -- us2k11Minor allele frequency- G:0.04EA 120
    rs758453751,2
    --1240201(+) ACCCCC/TGCCAT 2 -- us2k10--------
    rs1157523191,2
    F--1240221(+) CGCATT/ATTCCC 2 -- us2k11Minor allele frequency- A:0.06WA 118
    rs1494864971,2
    --1240332(+) GGCCGC/GTGGCT 2 -- us2k10--------
    rs1912060361,2
    --1240490(+) GTCCGA/GGATCC 2 -- us2k10--------
    rs768214961,2
    C,F--1240536(+) CTCGCC/TGCGGT 2 -- us2k12Minor allele frequency- T:0.25NA EA 240
    rs1822741721,2
    --1240645(+) CACCTA/CCCACT 2 -- us2k10--------
    rs1857458021,2
    --1240656(+) ACGACA/CTGTTT 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for ATP5D (1241749 - 1244824 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/24 variations for ATP5D (see all 24):    About this table     
    Variant IDTypeSubtypePubMed ID
    dgv3589n71CNV Loss21882294
    nsv910469CNV Loss21882294
    dgv3590n71CNV Loss21882294
    dgv3586n71CNV Loss21882294
    nsv910292CNV Loss21882294
    dgv3591n71CNV Loss21882294
    dgv3593n71CNV Loss21882294
    dgv3555n71CNV Loss21882294
    dgv3575n71CNV Loss21882294
    dgv3588n71CNV 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
    OMIM gene information: 603150    OMIM disorders: --

    4 diseases for ATP5D:    About MalaCards
    peutz-jeghers syndrome    huntington's disease    parkinson's disease    alzheimer's disease


    ATP5D for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    Export disorders for ATP5D 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 ATP5D gene, integrated from 9 sources (see all 25):
    (articles sorted by number of sources associating them with ATP5D)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning of an import precursor of the delta-subunit of the human mitochondrial ATP synthase complex. (PubMed id 1531933)1, 2, 3 Jordan E.M. and Breen G.A.M. (1992)
    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 biology of human chromosome 19. (PubMed id 15057824)1, 2 Grimwood J.... Lucas S.M. (2004)
    4. Human liver protein map: a reference database established by microsequencing and gel comparison. (PubMed id 1286669)1, 2 Hochstrasser D.F.... Hughes G.J. (1992)
    5. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    6. Functional genomics identifies therapeutic targets for MYC-driven cancer. (PubMed id 22623531)1 Toyoshima M....Grandori C. (2012)
    7. Global landscape of HIV-human protein complexes. (PubMed id 22190034)1 Jager S....Krogan N.J. (2012)
    8. An important role for CDK2 in G1 to S checkpoint activation and DNA damage response in human embryonic stem cells. (PubMed id 21319273)1 Neganova I....Lako M. (2011)
    9. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    10. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (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: 513 HGNC: 837 AceView: ATP5D Ensembl:ENSG00000099624 euGenes: HUgn513
    ECgene: ATP5D Kegg: 513 H-InvDB: ATP5D

    (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 ATP5D 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 ATP5D gene:
    Search GeneIP for patents involving ATP5D

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



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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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