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Aliases for ATP5H Gene

Aliases for ATP5H Gene

  • ATP Synthase, H+ Transporting, Mitochondrial Fo Complex Subunit D 2 3 5
  • ATP Synthase, H+ Transporting, Mitochondrial F0 Complex, Subunit D 2 3
  • ATP Synthase, H+ Transporting, Mitochondrial Fo Complex, Subunit D 2 3
  • ATPase Subunit D 3 4
  • ATP Synthase, H+ Transporting, Mitochondrial F1F0, Subunit D 3
  • ATP Synthase Subunit D, Mitochondrial 3
  • ATP Synthase D Chain, Mitochondrial 3
  • My032 Protein 3
  • ATPQ 3

External Ids for ATP5H Gene

Previous GeneCards Identifiers for ATP5H Gene

  • GC17P072954
  • GC17M076094
  • GC17M073499
  • GC17M073632
  • GC17M070546
  • GC17M073034
  • GC17M068445

Summaries for ATP5H Gene

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. Among its related pathways are Metabolism and purine nucleotides de novo biosynthesis. GO annotations related to this gene include ATPase activity and hydrogen ion transmembrane transporter activity.

UniProtKB/Swiss-Prot for ATP5H Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATP5H Gene

Genomics for ATP5H Gene

Regulatory Elements for ATP5H Gene

Enhancers for ATP5H Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17F075031 1.5 FANTOM5 ENCODE 15.5 +12.4 12365 5.8 MLX CREB3L1 ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF548 ZNF263 ENSG00000266980 NUP85 NT5C UNK ENSG00000264829 ATP5H LOC101928343 HID1 TSEN54 TRIM65
GH17F075075 1.6 FANTOM5 Ensembl ENCODE 11.8 -31.8 -31816 6.0 MLX ARID4B DMAP1 ZNF48 ZNF143 FOS SP5 MXD4 TBX21 PPARG ATP5H HN1 KCTD2 MRPS7 TMEM94 MIR6785 TRIM80P SLC16A5 HID1 MRPL58
GH17F075046 1.1 ENCODE 17.1 -0.5 -466 3.6 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF143 ZNF207 ATP5H UNK NUP85 NT5C ENSG00000266980 KCTD2 ENSG00000267801 TSEN54 GC17P075050 PIR61802
GH17F075180 1.1 ENCODE 17.1 -135.7 -135665 3.3 HDGF PKNOX1 CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 YY1 ZNF207 FOS NUP85 ATP5H SUMO2 NT5C ENSG00000267342 MIF4GD KCTD2 CDR2L TRIM65 HN1
GH17F075123 1.6 FANTOM5 Ensembl ENCODE 11.1 -78.1 -78055 3.1 ATF1 PKNOX1 SIN3A BRCA1 GLIS2 GATA2 KLF7 FOS JUNB ZHX2 NUP85 HN1 NT5C SUMO2 ATP5H KCTD2 MRPL58 MRPS7 TSEN54 SLC16A5
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ATP5H on UCSC Golden Path with GeneCards custom track

Promoters for ATP5H Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001353189 -116 3000 HDGF PKNOX1 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF143

Genomic Location for ATP5H Gene

Chromosome:
17
Start:
75,038,860 bp from pter
End:
75,046,985 bp from pter
Size:
8,126 bases
Orientation:
Minus strand

Genomic View for ATP5H Gene

Genes around ATP5H on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATP5H Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ATP5H Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATP5H Gene

Proteins for ATP5H Gene

  • Protein details for ATP5H Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75947-ATP5H_HUMAN
    Recommended name:
    ATP synthase subunit d, mitochondrial
    Protein Accession:
    O75947
    Secondary Accessions:
    • B2R5L6
    • Q9H3J4

    Protein attributes for ATP5H Gene

    Size:
    161 amino acids
    Molecular mass:
    18491 Da
    Quaternary structure:
    • 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).

    Alternative splice isoforms for ATP5H Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ATP5H Gene

Post-translational modifications for ATP5H Gene

  • Ubiquitination at Lys 32
  • Modification sites at PhosphoSitePlus

Other Protein References for ATP5H Gene

No data available for DME Specific Peptides for ATP5H Gene

Domains & Families for ATP5H Gene

Protein Domains for ATP5H Gene

Suggested Antigen Peptide Sequences for ATP5H Gene

Graphical View of Domain Structure for InterPro Entry

O75947

UniProtKB/Swiss-Prot:

ATP5H_HUMAN :
  • Belongs to the ATPase d subunit family.
Family:
  • Belongs to the ATPase d subunit family.
genes like me logo Genes that share domains with ATP5H: view

Function for ATP5H Gene

Molecular function for ATP5H Gene

UniProtKB/Swiss-Prot 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) - Molecular Function for ATP5H Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015078 hydrogen ion transmembrane transporter activity IEA --
GO:0016887 contributes_to ATPase activity IDA 12110673
GO:0022857 transmembrane transporter activity IC 12110673
GO:0046933 contributes_to proton-transporting ATP synthase activity, rotational mechanism IBA --
genes like me logo Genes that share ontologies with ATP5H: view
genes like me logo Genes that share phenotypes with ATP5H: view

Animal Model Products

miRNA for ATP5H Gene

miRTarBase miRNAs that target ATP5H

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ATP5H Gene

Localization for ATP5H Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATP5H Gene

Mitochondrion. Mitochondrion inner membrane.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ATP5H gene
Compartment Confidence
extracellular 5
mitochondrion 5
nucleus 5
cytosol 5

Gene Ontology (GO) - Cellular Components for ATP5H Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000274 mitochondrial proton-transporting ATP synthase, stator stalk IBA --
GO:0000276 mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) IEA --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA --
GO:0005739 mitochondrion IEA,IDA 20833797
genes like me logo Genes that share ontologies with ATP5H: view

Pathways & Interactions for ATP5H Gene

genes like me logo Genes that share pathways with ATP5H: view

Gene Ontology (GO) - Biological Process for ATP5H Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006754 ATP biosynthetic process TAS --
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0015986 ATP synthesis coupled proton transport IEA,IBA --
GO:0015992 proton transport IEA --
genes like me logo Genes that share ontologies with ATP5H: view

No data available for SIGNOR curated interactions for ATP5H Gene

Drugs & Compounds for ATP5H Gene

(2) Drugs for ATP5H Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
Adenosine triphosphate Approved Nutra 0

(2) Additional Compounds for ATP5H Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
Phosphate
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)
14265-44-2
genes like me logo Genes that share compounds with ATP5H: view

Transcripts for ATP5H Gene

Unigene Clusters for ATP5H Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit d:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ATP5H Gene

No ASD Table

Relevant External Links for ATP5H Gene

GeneLoc Exon Structure for
ATP5H
ECgene alternative splicing isoforms for
ATP5H

Expression for ATP5H Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ATP5H Gene

Protein differential expression in normal tissues from HIPED for ATP5H Gene

This gene is overexpressed in Nasal epithelium (15.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ATP5H Gene



Protein tissue co-expression partners for ATP5H Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ATP5H Gene:

ATP5H

SOURCE GeneReport for Unigene cluster for ATP5H Gene:

Hs.514465
genes like me logo Genes that share expression patterns with ATP5H: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for ATP5H Gene

Orthologs for ATP5H Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ATP5H Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ATP5H 34 35
  • 100 (n)
dog
(Canis familiaris)
Mammalia -- 35
  • 91 (a)
OneToMany
-- 35
  • 91 (a)
OneToMany
-- 35
  • 91 (a)
OneToMany
-- 35
  • 91 (a)
OneToMany
LOC102154055 34
  • 90.48 (n)
-- 35
  • 90 (a)
OneToMany
-- 35
  • 90 (a)
OneToMany
-- 35
  • 89 (a)
OneToMany
-- 35
  • 89 (a)
OneToMany
-- 35
  • 89 (a)
OneToMany
-- 35
  • 89 (a)
OneToMany
-- 35
  • 89 (a)
OneToMany
-- 35
  • 88 (a)
OneToMany
-- 35
  • 88 (a)
OneToMany
-- 35
  • 88 (a)
OneToMany
-- 35
  • 88 (a)
OneToMany
-- 35
  • 87 (a)
OneToMany
-- 35
  • 87 (a)
OneToMany
-- 35
  • 87 (a)
OneToMany
-- 35
  • 87 (a)
OneToMany
-- 35
  • 86 (a)
OneToMany
-- 35
  • 86 (a)
OneToMany
-- 35
  • 85 (a)
OneToMany
-- 35
  • 85 (a)
OneToMany
-- 35
  • 82 (a)
OneToMany
-- 35
  • 82 (a)
OneToMany
-- 35
  • 82 (a)
OneToMany
-- 35
  • 80 (a)
OneToMany
-- 35
  • 77 (a)
OneToMany
cow
(Bos Taurus)
Mammalia ATP5H 34 35
  • 89.03 (n)
-- 35
  • 80 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Gm10250 35
  • 81 (a)
OneToMany
Atp5h 34 16 35
  • 80.54 (n)
Gm4953 35
  • 75 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Atp5h 34
  • 78.88 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 78 (a)
OneToMany
-- 35
  • 67 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia ATP5H 35
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves ATP5H 34 35
  • 68.53 (n)
lizard
(Anolis carolinensis)
Reptilia ATP5H 35
  • 58 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia atp5h 34
  • 61.9 (n)
Str.1257 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.23901 34
zebrafish
(Danio rerio)
Actinopterygii atp5h 34 35
  • 65.22 (n)
zgc73071 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8409 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011131 34
  • 55.35 (n)
fruit fly
(Drosophila melanogaster)
Insecta ATPsyn-d 36 34 35
  • 53.21 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ATP7 37
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7968 35
  • 29 (a)
OneToOne
Species where no ortholog for ATP5H was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ATP5H Gene

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

Paralogs for ATP5H Gene

Pseudogenes.org Pseudogenes for ATP5H Gene

genes like me logo Genes that share paralogs with ATP5H: view

No data available for Paralogs for ATP5H Gene

Variants for ATP5H Gene

Sequence variations from dbSNP and Humsavar for ATP5H Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs10512598 -- 75,042,037(-) GTGGT(C/T)GATTG intron-variant
rs11077772 -- 75,039,603(+) TCTCT(C/T)TGGTG intron-variant
rs111299840 -- 75,039,066(+) CATCT(C/G)GAAAG intron-variant
rs111352605 -- 75,044,343(+) TGGGA(C/T)TACAG intron-variant
rs111538698 -- 75,044,367(+) CGCCC(A/G)GCTAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ATP5H Gene

Variant ID Type Subtype PubMed ID
esv1720628 CNV deletion 17803354
esv2566082 CNV deletion 19546169
esv2716235 CNV deletion 23290073
esv3554781 CNV deletion 23714750
nsv112456 CNV deletion 16902084
esv3893044 CNV loss 25118596

Variation tolerance for ATP5H Gene

Residual Variation Intolerance Score: 57.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.22; 4.85% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ATP5H Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ATP5H

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATP5H Gene

Disorders for ATP5H Gene

Relevant External Links for ATP5H

Genetic Association Database (GAD)
ATP5H
Human Genome Epidemiology (HuGE) Navigator
ATP5H
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ATP5H

No disorders were found for ATP5H Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ATP5H Gene

Publications for ATP5H Gene

  1. Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. (PMID: 11042152) Zhang Q.-H. … Chen Z. (Genome Res. 2000) 2 3 4 64
  2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 64
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  5. Mitochondrial Protein Interaction Mapping Identifies Regulators of Respiratory Chain Function. (PMID: 27499296) Floyd B.J. … Pagliarini D.J. (Mol. Cell 2016) 3 64

Products for ATP5H Gene

Sources for ATP5H Gene

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