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ATP5EP2 Gene

pseudogene   GIFtS: 28
GCID: GC13P028519

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)
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Aliases
ATP Synthase, H+ Transporting, Mitochondrial F1 Complex, Epsilon
Subunit Pseudogene 21 2

External Ids:    HGNC: 340261   Entrez Gene: 4323692   Ensembl: ENSG000001803897   UniProtKB: Q5VTU83   

Export aliases for ATP5EP2 gene to outside databases

Previous GC identifers: GC13P027420 GC13P009339


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for ATP5EP2 Gene:
ATP5EP2 (ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit pseudogene 2) is a pseudogene. GO annotations related to this gene include proton-transporting ATP synthase activity, rotational mechanism and proton-transporting ATPase activity, rotational mechanism. An important paralog of this gene is ATP5E.

UniProtKB/Swiss-Prot: AT5EL_HUMAN, Q5VTU8
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 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 (By
similarity)




(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000013.10  NC_018924.2  NT_024524.15  
Regulatory elements:
   Regulatory transcription factor binding sites in the ATP5EP2 gene promoter:
         C/EBPbeta   
         Other transcription factors

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Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ATP5EP2


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

Entrez Gene cytogenetic band: 13q12   Ensembl cytogenetic band:  13q12.2   HGNC cytogenetic band: 13q12

ATP5EP2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ATP5EP2 gene location

GeneLoc information about chromosome 13         GeneLoc Exon Structure

GeneLoc location for GC13P028519:  view genomic region     (about GC identifiers)

Start:
28,519,343 bp from pter      End:
28,519,727 bp from pter
Size:
385 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: AT5EL_HUMAN, Q5VTU8 (See protein sequence)
Recommended Name: ATP synthase subunit epsilon-like protein, mitochondrial  
Size: 51 amino acids; 5807 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) (By similarity)
Caution: Defined as a pseudogene by HGNC. However, proteomic data on a specific peptide from PubMed:17924679
suggest the existence of this protein

Explore the universe of human proteins at neXtProt for ATP5EP2: NX_Q5VTU8

Explore proteomics data for ATP5EP2 at MOPED


See ATP5EP2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB


ENSEMBL proteins: 
 ENSP00000370414  

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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1 InterPro protein domain:
 IPR006721 ATPase_F1-cplx_esu_mt

Graphical View of Domain Structure for InterPro Entry Q5VTU8

ProtoNet protein and cluster: Q5VTU8

1 Blocks protein domain: IPB006721 Mitochondrial ATP synthase epsilon chain

UniProtKB/Swiss-Prot: AT5EL_HUMAN, Q5VTU8
Similarity: Belongs to the eukaryotic ATPase epsilon family


Find genes that share domains with ATP5EP2           About GenesLikeMe


(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,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

     UniProtKB/Swiss-Prot Summary: AT5EL_HUMAN, Q5VTU8
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 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 (By
similarity)

     Gene Ontology (GO): 2 molecular function terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0046933proton-transporting ATP synthase activity, rotational mechanism IEA--
GO:0046961proton-transporting ATPase activity, rotational mechanism IEA--
     
Find genes that share ontologies with ATP5EP2           About GenesLikeMe


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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
AT5EL_HUMAN, Q5VTU8: Mitochondrion. Mitochondrion inner membrane (By similarity)
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
mitochondrion5
nucleus2
cytosol1

Gene Ontology (GO): 2 cellular component terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0000275mitochondrial proton-transporting ATP synthase complex, catalytic core F(1) IEA--
GO:0005739mitochondrion IDA--

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(SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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SuperPaths for ATP5EP2 About    
See pathways by source

SuperPathContained pathways About
1purine nucleotide salvage
purine nucleotide salvage0.78
adenosine ribonucleotides de novo biosynthesis0.51
purine nucleotides de novo biosynthesis0.78


3 BioSystems Pathways for ATP5EP2
    purine nucleotides de novo biosynthesis
purine nucleotide salvage
adenosine ribonucleotides de novo biosynthesis


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Interactions:

    Search GeneGlobe Interaction Network for ATP5EP2

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

Selected Interacting proteins for ATP5EP2 (ENSP000003704144) via UniProtKB, MINT, STRING, and/or I2D (see all 61)
InteractantInteraction Details
GeneCardExternal ID(s)
ATP5LENSP000003006884STRING: ENSP00000300688
ATP5BENSP000002620304STRING: ENSP00000262030
ATP5A1ENSP000002820504STRING: ENSP00000282050
ATP5DENSP000002153754STRING: ENSP00000215375
ATP5F1ENSP000003587374STRING: ENSP00000358737
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Gene Ontology (GO): 1 biological process term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0015986ATP synthesis coupled proton transport IEA--

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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Tocris compounds for ATP5EP2 (AT5EL)

1 HMDB Compound for ATP5EP2    About this table
CompoundSynonyms CAS #PubMed Ids
Clotrimazole(Chlorotrityl)imidazole (see all 72)23593-75-1--



(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,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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Unigene Cluster for ATP5EP2:

ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit pseudogene 2
Hs.574118  [show with all ESTs]
Unigene Representative Sequence: BX400858
1 Ensembl transcript including schematic representation, and UCSC links where relevant:
ENST00000381026(uc001uru.3)
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Additional mRNA sequence: NR_002162.1 

5 DOTS entries:

DT.120780343  DT.120780342  DT.100686212  DT.120805389  DT.449876 

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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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ATP5EP2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: --
ATP5EP2 Expression
About this image

ATP5EP2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

ATP5EP2 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.574118
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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)
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This gene was present in the common ancestor of chordates.

Orthologs for ATP5EP2 gene from Selected species (see all 7)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
lizard
(Anolis carolinensis)
Reptilia --
Uncharacterized protein
82(a)
1 → many
GL343770.1(169473-172052)
zebrafish
(Danio rerio)
Actinopterygii atp5e6
ATP synthase, H+ transporting, mitochondrial F1 co...
63(a)
1 → many
6(49845154-49853806) ENSDARG00000095897
        Species with no ortholog for ATP5EP2

ENSEMBL Gene Tree for ATP5EP2 (if available)
TreeFam Gene Tree for ATP5EP2 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for ATP5EP2 gene
ATP5E2  
1 SIMAP similar gene for ATP5EP2 using alignment to 1 protein entry:     AT5EL_HUMAN:
ATP5E

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(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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for ATP5EP2 (see all 53)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 13 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs25042221,2
C,F,A--28517396(-) TGTTTG/TGTTTA 1 -- us2k1 tfbs39Minor allele frequency- T:0.27NA WA EA 374
rs560107491,2
C--28517744(+) TGGATA/CACGAG 1 -- us2k10--------
rs1834476921,2
--28517822(+) TAGCCA/GTGCAC 1 -- us2k10--------
rs25042211,2
C,F,A,H--28517842(-) GACTAT/CAGGTG 1 -- us2k14Minor allele frequency- C:0.33NA WA 12
rs1851540761,2
--28517944(+) TGGGCA/GACAGA 1 -- us2k10--------
rs1491967031,2
--28517989(+) AAAAGA/CAAACT 1 -- us2k10--------
rs1910459131,2
--28518196(+) CTTCAC/TCTCAT 1 -- us2k10--------
rs1423841801,2
--28518333(+) AGACTG/TACTGG 1 -- us2k10--------
rs1513275981,2
C--28518379(+) GGACAC/TCATCA 1 -- us2k10--------
rs1156945211,2
C,F--28518415(+) CTGCAG/AAGCAA 1 -- us2k11Minor allele frequency- A:0.08WA 118

HapMap Linkage Disequilibrium report for ATP5EP2 (28519343 - 28519727 bp)

Structural Variations
      Database of Genomic Variants (DGV) variations for ATP5EP2: --
Site Specific Mutation Identification with PCR Assays
Search QIAGEN SeqTarget long-range PCR primers for resequencing ATP5EP2
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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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  --

(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)
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PubMed article for ATP5EP2 gene integrated from 10 sources:
(articles sorted by number of sources associating them with ATP5EP2)
    Utopia: connect your pdf to the dynamic
world of online information

  1. The DNA sequence and analysis of human chromosome 13. (PubMed id 15057823)2 Dunham A.... Ross M.T. (Nature 2004)

(in PubMed, OMIM, and NCBI Bookshelf)
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 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)
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Entrez Gene: 432369 HGNC: 34026 Ensembl:ENSG00000180389 euGenes: HUgn432369 ECgene: ATP5EP2
H-InvDB: ATP5EP2

(According to HUGE)
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  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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  --

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for ATP5EP2 gene:
Search GeneIP for patents involving ATP5EP2

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



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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 Browse ESI BIO Cell Lines and PureStem Progenitors for ATP5EP2
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 inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ATP5EP2
 inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for ATP5EP2
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Customized transgenic rodents for:
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 Search Addgene for plasmids for ATP5EP2
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GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014

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