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
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Aliases & Descriptionsfor ATP5H gene
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )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
Export aliases for ATP5H gene to outside databases Previous GC identifers: GC17P072954 GC17M076094 GC17M073499 GC17M073632 GC17M070546 GC17M073034
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Summariesfor ATP5H gene (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 thepresence 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
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Genomic Viewsfor 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 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) 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 : Chr 17- 73,034,955-73,043,074
RefSeq DNA sequence: NC_000017.10 NT_010783.15
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Proteinsfor ATP5H gene
(According to
1 UniProtKB ,
neXtProt ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
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 Q9H3J4Alternative 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 PhosphoSite 2
REFSEQ proteins (2 alternative transcripts):
NP_001003785.1 NP_006347.1 ENSEMBL proteins: ENSP00000301587 ENSP00000344230 Human Recombinant Proteins 5 Gene Ontology (GO) cellular component terms (GO ID links to tree view) :
About this table
ATP5H for ontologies About GeneDecksing Antibodies for ATP5H: Assays for ATP5H:
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Protein
Domains/ Familiesfor ATP5H gene (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 :
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
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Gene Functionfor ATP5H gene
(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 thepresence 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
3 Gene Ontology (GO) molecular function terms (GO ID links to tree view) :
About this table
ATP5H for ontologies About GeneDecksing
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Pathways & Interactionsfor ATP5H gene
(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 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
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 5 Kegg Pathways (Kegg details for ATP5H) : 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 (O75947 2 ENSP00000301587 3 ) via UniProtKB, MINT, and/or STRING (see all 249 )About this table 4 Gene Ontology (GO) biological process terms (GO ID links to tree view) :
GO ID Qualified GO term Evidence PubMed 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
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Drugs & Compoundsfor ATP5H gene (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 Tocris compounds for ATP5H
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Transcriptsfor ATP5H gene (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 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 )
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Expression for ATP5H gene
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
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 About these images CGAP SAGE TAG: --SOURCE GeneReport for Unigene cluster: Hs.514465 Expression variation in blood from EXPOLDB for ATP5H
SABiosciences Expression via Pathway-Focused PCR Array including ATP5H : PAHS-008A
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Orthologsfor ATP5H gene
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI 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)
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Paralogsfor ATP5H gene (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section Pseudogenes 4 related pseudogenes
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Genomic Variantsfor ATP5H gene (SNPs according to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants , Resequencing Primers from Qiagen )
About This Section
Genomic Data Transcription Related Data Allele Frequencies SNP ID Valid Chr 17 pos Sequence Recs AA Chg Type More Recs Allele freq Pop Total sample More
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
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Disorders & Mutationsfor ATP5H gene
(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
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Medical Newsfor ATP5H gene (Possibly Related Articles in
Doctor's Guide )
About This Section --
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Publicationsfor ATP5H gene (in
PubMed .
Associations of this gene to articles via
1 Entrez Gene ,
2 UniProtKB/Swiss-Prot ,
3 HGNC ,
4 GAD ,
5 PharmGKB ,
6 UniProtKB/TrEMBL , and/or
7 Novoseek )
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) 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) 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) Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039) 1 , 2 Ota T.... Sugano S. (2004) Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624) 1 Hendrickson S.L....O'Brien S.J. (2010) Lysine acetylation targets protein complexes and co-regulates major cellular functions. (PubMed id 19608861) 2 Choudhary C.... Mann M. (2009) 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) 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) A human protein-protein interaction network: a resource for annotating the proteome. (PubMed id 16169070) 1 Stelzl U.... Wanker E.E. (2005) Molecular motors: turning the ATP motor. (PubMed id 14749816) 1 Cross R.L. (2004) Understanding ATP synthesis: structure and mechanism of the F1-ATPase (Review). (PubMed id 12745923) 1 Leyva J.A....Amzel L.M. (2003)
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External Searches for ATP5H gene
(in PubMed ,
OMIM , and NCBI Bookshelf ) About This Section
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Genome Databases showing ATP5H gene
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
Kegg ,
and/or
H-InvDB )
About This Section
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Other Databases showing ATP5H gene
(According to HUGE )
About This Section --
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Specialized Databases showing ATP5H gene (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
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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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Productsfor ATP5H gene (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
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