Aliases for ATP5PD Gene
Aliases for ATP5PD Gene
- ATP Synthase Peripheral Stalk 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
- 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
External Ids for ATP5PD Gene
- HGNC: 845
- Entrez Gene: 10476
- Ensembl: ENSG00000167863
- UniProtKB: O75947
Previous HGNC Symbols for ATP5PD Gene
- ATP5H
Summaries for ATP5PD 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 ATP5PD Gene
ATP5PD (ATP Synthase Peripheral Stalk Subunit D) is a Protein Coding gene. Diseases associated with ATP5PD include Alzheimer Disease. Among its related pathways are Metabolism and purine nucleotides de novo biosynthesis.
UniProtKB/Swiss-Prot for ATP5PD 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.
Additional gene information for ATP5PD Gene
- Monarch Initiative
- Search for ATP5PD at DataMed
- Search for ATP5PD at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATP5PD Gene
Genomics for ATP5PD Gene
GeneHancer (GH) Regulatory Elements for ATP5PD Gene
Promoters and enhancers for ATP5PD Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)
GeneHancers around ATP5PD on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Locations for ATP5PD Gene
Genomic Locations for ATP5PD Gene
- chr17:75,038,860-75,046,985
- (GRCh38/hg38)
- Size:
- 8,126 bases
- Orientation:
- Minus strand
- chr17:73,034,955-73,043,080
- (GRCh37/hg19)
- Size:
- 8,126 bases
- Orientation:
- Minus strand
Genomic View for ATP5PD Gene
Genes around ATP5PD on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 17q25.1 by Entrez Gene
- 17q25.1 by HGNC
- 17q25.1 by Ensembl
ATP5PD Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for ATP5PD Gene
Proteins for ATP5PD Gene
-
Protein details for ATP5PD Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- O75947-ATP5H_HUMAN
- Recommended name:
- ATP synthase subunit d, mitochondrial
- Protein Accession:
- O75947
- B2R5L6
- Q9H3J4
Protein attributes for ATP5PD 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, ATP5MC1, ATP5F1E, ATP5H, ATP5I, ATP5J, ATP5J2, MT-ATP6, MT-ATP8, ATP5F1A, ATP5F1B, ATP5F1D, ATP5F1C, ATP5O, ATP5L, USMG5 and MP68 (By similarity).
Post-translational modifications for ATP5PD Gene
Other Protein References for ATP5PD Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
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-
Abcam antibodies for ATP5PD
- Invitrogen Antibodies for ATP5PD (AFLGC-ATP5H)
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-
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Protein Products
-
OriGene Purified Proteins for ATP5PD
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-
Abcam proteins for ATP5PD
Assay Products
No data available for DME Specific Peptides for ATP5PD Gene
Domains & Families for ATP5PD Gene
Gene Families for ATP5PD Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
Protein Domains for ATP5PD Gene
- Blocks:
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for ATP5PD Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
O75947- Family:
-
- Belongs to the ATPase d subunit family.
Function for ATP5PD Gene
Molecular function for ATP5PD 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.
Phenotypes From GWAS Catalog for ATP5PD Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0015078 | proton 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 | -- |
Phenotypes for ATP5PD Gene
- GenomeRNAi human phenotypes for ATP5PD:
-
- Decreased shRNA abundance (Z-score < -2)
- Increased shRNA abundance (Z-score > 2)
- Decreased viability of wild-type and TP53 knockout cells, decreased TP53 protein expression ratio (wild-type / TP53 knockout cells)
- Decreased viability
- no effect
- Increased vaccinia virus (VACV) infection
- Synthetic lethal with Ras
- shRNA abundance <= 50%
- Decreased shRNA abundance
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for ATP5PD
-
CRISPR Products
-
OriGene CRISPR knockouts for ATP5PD
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-
Vectors and viruses for KO, Activation, Repression, and more
- GenScript: Design CRISPR guide RNA sequences for ATP5PD
miRNA for ATP5PD Gene
- miRTarBase miRNAs that target ATP5PD
miRNA Products
Inhibitory RNA Products
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Clone Products
- Sino Biological Human cDNA Clone for ATP5PD
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- Applied Biological Materials Clones for ATP5PD
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ATP5PD Gene
Localization for ATP5PD Gene
Subcellular locations from UniProtKB/Swiss-Prot for ATP5PD Gene
- Mitochondrion. Mitochondrion inner membrane.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| mitochondrion | 5 |
| nucleus | 5 |
| cytosol | 5 |
- Nucleoplasm (3)
| 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:0005739 | mitochondrion | IDA,IEA | -- |
| GO:0005743 | mitochondrial inner membrane | TAS | -- |
Pathways & Interactions for ATP5PD Gene
Pathways by source for ATP5PD Gene
5 BioSystems pathways for ATP5PD Gene
1 PharmGKB pathway for ATP5PD Gene
6 KEGG pathways for ATP5PD Gene
Interacting Proteins for ATP5PD Gene
Selected Interacting proteins:
O75947-ATP5H_HUMAN
ENSP00000301587
for ATP5PD Gene via
MINT
STRING
IID
GPS-Prot Interaction Network for ATP5PD
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006754 | ATP biosynthetic process | TAS | -- |
| GO:0006811 | ion transport | IEA | -- |
| GO:0015986 | ATP synthesis coupled proton transport | IBA,IEA | -- |
| GO:0042407 | cristae formation | TAS | -- |
| GO:0042776 | mitochondrial ATP synthesis coupled proton transport | TAS | -- |
No data available for SIGNOR curated interactions for ATP5PD Gene
Drugs & Compounds for ATP5PD Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| ADP |
|
Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor | 58-64-0 |
|
||
| Phosphate |
|
14265-44-2 |
|
Drug Products
Transcripts for ATP5PD Gene
mRNA/cDNA for ATP5PD Gene
- (2) REFSEQ mRNAs :
- (255) Selected AceView cDNA sequences:
- (5) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000580649 2191 bps (uc060jsp.1)
- ENST00000301587 603 bps (uc002jmn.2)
- ENST00000344546 553 bps (uc002jmo.2)
- ENST00000538432 533 bps (uc060jsq.1)
- ENST00000582341 979 bps (uc060jsr.1)
CRISPR Products
-
OriGene CRISPR knockouts for ATP5PD
- genomics-online: gRNA clones - Search results for available ATP5H gene related products
- Applied Biological Materials CRISPR for ATP5PD
-
Vectors and viruses for KO, Activation, Repression, and more
- GenScript: Design CRISPR guide RNA sequences for ATP5PD
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ATP5PD
- Browse OriGene Inhibitory RNA Products For ATP5PD
- genomics-online: shRNA clones - Search results for available ATP5H gene related products
Clone Products
- Sino Biological Human cDNA Clone for ATP5PD
- genomics-online: cdna clones - Search results for available ATP5H gene related products
- orf clones - Search results for available ATP5H gene related products
- Applied Biological Materials Clones for ATP5PD
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for ATP5PD Gene
NURSA nuclear receptor signaling pathways regulating expression of ATP5PD Gene:
ATP5PDEvidence on tissue expression from TISSUES for ATP5PD Gene
- Liver(4.7)
- Nervous system(4.7)
- Blood(4.3)
- Pancreas(4.3)
- Heart(3.4)
- Kidney(3.1)
- Muscle(3.1)
- Intestine(2.8)
- Spleen(2.8)
- Lung(2.7)
- Stomach(2.3)
- Adrenal gland(2.1)
- Thyroid gland(2.1)
- Skin(2)
No Expression Related Data Available
Primer Products
-
OriGene qPCR primer pairs for ATP5PD
-
OriGene qPCR primer pairs and template standards for ATP5PD
- genomics-online: primer clones - Search results for available ATP5H gene related products
No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ATP5PD Gene
Orthologs for ATP5PD Gene
This gene was present in the common ancestor of animals and fungi.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | ATP5H 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | -- 34 |
|
OneToMany | |
| -- 34 |
|
OneToMany | |||
| -- 34 |
|
OneToMany | |||
| -- 34 |
|
OneToMany | |||
| LOC102154055 33 |
|
||||
| -- 34 |
|
OneToMany | |||
| -- 34 |
|
OneToMany | |||
| -- 34 |
|
OneToMany | |||
| -- 34 |
|
OneToMany | |||
| -- 34 |
|
OneToMany | |||
| -- 34 |
|
OneToMany | |||
| -- 34 |
|
OneToMany | |||
| -- 34 |
|
OneToMany | |||
| -- 34 |
|
OneToMany | |||
| -- 34 |
|
OneToMany | |||
| -- 34 |
|
OneToMany | |||
| -- 34 |
|
OneToMany | |||
| -- 34 |
|
OneToMany | |||
| -- 34 |
|
OneToMany | |||
| -- 34 |
|
OneToMany | |||
| -- 34 |
|
OneToMany | |||
| -- 34 |
|
OneToMany | |||
| -- 34 |
|
OneToMany | |||
| -- 34 |
|
OneToMany | |||
| -- 34 |
|
OneToMany | |||
| -- 34 |
|
OneToMany | |||
| -- 34 |
|
OneToMany | |||
| -- 34 |
|
OneToMany | |||
| -- 34 |
|
OneToMany | |||
| cow (Bos Taurus) |
Mammalia | ATP5H 34 33 |
|
OneToMany | |
| -- 34 |
|
OneToMany | |||
| mouse (Mus musculus) |
Mammalia | Gm10250 34 |
|
OneToMany | |
| Atp5h 16 34 33 |
|
||||
| Gm4953 34 |
|
OneToMany | |||
| rat (Rattus norvegicus) |
Mammalia | Atp5h 33 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 34 |
|
OneToMany | |
| -- 34 |
|
OneToMany | |||
| oppossum (Monodelphis domestica) |
Mammalia | ATP5H 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | ATP5H 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | ATP5H 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | atp5h 33 |
|
||
| Str.1257 33 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.23901 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | atp5h 34 33 |
|
OneToOne | |
| zgc73071 33 |
|
||||
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.8409 33 |
|
||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP011131 33 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | ATPsyn-d 34 33 |
|
OneToOne | |
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | ATP7 36 |
|
|
|
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.7968 34 |
|
OneToOne |
- Species where no ortholog for ATP5PD 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 ATP5PD Gene
- ENSEMBL:
- Gene Tree for ATP5PD (if available)
- TreeFam:
- Gene Tree for ATP5PD (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for ATP5PD: view image
Paralogs for ATP5PD Gene
Pseudogenes.org Pseudogenes for ATP5PD Gene
No data available for Paralogs for ATP5PD Gene
Variants for ATP5PD Gene
| SNP ID | Clin | Chr 17 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1000204754 | -- | 75,043,094(-) | C/T | intron_variant | |
| rs1000486566 | -- | 75,042,836(-) | G/C | intron_variant | |
| rs1000537240 | -- | 75,044,945(-) | G/T | intron_variant | |
| rs1001093033 | -- | 75,040,817(-) | C/T | intron_variant | |
| rs1001435267 | -- | 75,038,567(-) | G/A | downstream_transcript_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv1720628 | CNV | deletion | 17803354 |
| esv2566082 | CNV | deletion | 19546169 |
| esv2716235 | CNV | deletion | 23290073 |
| esv3554781 | CNV | deletion | 23714750 |
| esv3893044 | CNV | loss | 25118596 |
| nsv112456 | CNV | deletion | 16902084 |
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)
Additional Variant Information for ATP5PD Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- ATP5PD
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATP5PD Gene
Disorders for ATP5PD Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| alzheimer disease |
|
|
Search ATP5PD in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for ATP5PD
No data available for UniProtKB/Swiss-Prot and Genatlas for ATP5PD Gene
Publications for ATP5PD Gene
- 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 QH … Chen Z (Genome research 2000) 2 3 4 58
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
- An Interaction Landscape of Ubiquitin Signaling. (PMID: 28190767) Zhang X … Vermeulen M (Molecular cell 2017) 3 58
- Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
Products for ATP5PD Gene
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Sources for ATP5PD Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
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