Human Gene ATP5PD (ENST00000301587.9) from GENCODE V44
  Description: Homo sapiens ATP synthase peripheral stalk subunit d (ATP5PD), transcript variant 1, mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_006356)
RefSeq Summary (NM_006356): 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].
Gencode Transcript: ENST00000301587.9
Gencode Gene: ENSG00000167863.12
Transcript (Including UTRs)
   Position: hg38 chr17:75,038,863-75,046,969 Size: 8,107 Total Exon Count: 6 Strand: -
Coding Region
   Position: hg38 chr17:75,038,932-75,042,650 Size: 3,719 Coding Exon Count: 5 

Page IndexSequence and LinksUniProtKB CommentsPrimersRNA-Seq ExpressionMicroarray Expression
RNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA DescriptionsPathways
Other NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:75,038,863-75,046,969)mRNA (may differ from genome)Protein (161 aa)
Gene SorterGenome BrowserOther Species FASTATable SchemaAlphaFoldBioGPS
EnsemblEntrez GeneExonPrimerGencodeGeneCardsHPRD
LynxMalacardsMGIneXtProtOMIMPubMed
ReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: ATP5H_HUMAN
DESCRIPTION: RecName: Full=ATP synthase subunit d, mitochondrial; Short=ATPase subunit d;
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.
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). 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.
SIMILARITY: Belongs to the ATPase d subunit family.

-  Primer design for this transcript
 

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Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
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To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 257.13 RPKM in Heart - Left Ventricle
Total median expression: 5501.81 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -19.0054-0.352 Picture PostScript Text
3' UTR -11.0069-0.159 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR008689 - ATPase_F0-cplx_dsu_mt

Pfam Domains:
PF05873 - ATP synthase D chain, mitochondrial (ATP5H)

ModBase Predicted Comparative 3D Structure on O75947
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserGenome BrowserGenome BrowserNo orthologGenome Browser
Gene Details    Gene Details
Gene Sorter    Gene Sorter
MGIRGDEnsemblEnsembl SGD
Protein SequenceProtein SequenceProtein SequenceProtein Sequence Protein Sequence
AlignmentAlignmentAlignmentAlignment Alignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0015078 hydrogen ion transmembrane transporter activity
GO:0022857 transmembrane transporter activity
GO:0016887 ATPase activity
GO:0046933 proton-transporting ATP synthase activity, rotational mechanism

Biological Process:
GO:0006754 ATP biosynthetic process
GO:0006811 ion transport
GO:0015986 ATP synthesis coupled proton transport
GO:0042407 cristae formation
GO:0042776 mitochondrial ATP synthesis coupled proton transport
GO:0099132 ATP hydrolysis coupled cation transmembrane transport

Cellular Component:
GO:0000274 mitochondrial proton-transporting ATP synthase, stator stalk
GO:0000276 mitochondrial proton-transporting ATP synthase complex, coupling factor F(o)
GO:0005654 nucleoplasm
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
GO:0005753 mitochondrial proton-transporting ATP synthase complex
GO:0016020 membrane
GO:0043209 myelin sheath
GO:0045263 proton-transporting ATP synthase complex, coupling factor F(o)


-  Descriptions from all associated GenBank mRNAs
  AK095671 - Homo sapiens cDNA FLJ38352 fis, clone FEBRA1000148.
AF070650 - Homo sapiens F1F0-type ATP synthase subunit d mRNA, complete cds.
AF087135 - Homo sapiens F1FO-type ATPase subunit d mRNA, nuclear gene encoding mitochondrial protein, complete cds.
BC032245 - Homo sapiens ATP synthase, H+ transporting, mitochondrial F0 complex, subunit d, mRNA (cDNA clone MGC:39974 IMAGE:5167128), complete cds.
AF061735 - Homo sapiens clone 023e08 My032 protein mRNA, complete cds.
AF086159 - Homo sapiens full length insert cDNA clone ZB73B02.
BC038092 - Homo sapiens ATP synthase, H+ transporting, mitochondrial F0 complex, subunit d, mRNA (cDNA clone MGC:47701 IMAGE:6020835), complete cds.
AK312230 - Homo sapiens cDNA, FLJ92521, Homo sapiens ATP synthase, H+ transporting, mitochondrial F0complex, subunit d (ATP5H), mRNA.
KJ893053 - Synthetic construct Homo sapiens clone ccsbBroadEn_02447 ATP5H gene, encodes complete protein.
KJ906044 - Synthetic construct Homo sapiens clone ccsbBroadEn_15714 ATP5H gene, encodes complete protein.
BC029392 - Homo sapiens ATP synthase, H+ transporting, mitochondrial F0 complex, subunit d, mRNA (cDNA clone IMAGE:4078831), partial cds.
DQ583597 - Homo sapiens piRNA piR-50709, complete sequence.
JD085757 - Sequence 66781 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00190 - Oxidative phosphorylation
hsa01100 - Metabolic pathways
hsa05010 - Alzheimer's disease
hsa05012 - Parkinson's disease
hsa05016 - Huntington's disease

BioCyc Knowledge Library
PWY-7980 - ATP biosynthesis

Reactome (by CSHL, EBI, and GO)

Protein O75947 (Reactome details) participates in the following event(s):

R-HSA-164840 ADP and Pi bind to ATPase
R-HSA-8949580 F1Fo ATP synthase dimerizes
R-HSA-164834 Enzyme-bound ATP is released
R-HSA-164832 ATPase synthesizes ATP
R-HSA-163210 Formation of ATP by chemiosmotic coupling
R-HSA-8949613 Cristae formation
R-HSA-163200 Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
R-HSA-1592230 Mitochondrial biogenesis
R-HSA-1428517 The citric acid (TCA) cycle and respiratory electron transport
R-HSA-1852241 Organelle biogenesis and maintenance
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: ATP5H, ATP5H_HUMAN, B2R5L6, ENST00000301587.1, ENST00000301587.2, ENST00000301587.3, ENST00000301587.4, ENST00000301587.5, ENST00000301587.6, ENST00000301587.7, ENST00000301587.8, My032, NM_006356, O75947, Q9H3J4, uc002jmn.1, uc002jmn.2, uc002jmn.3
UCSC ID: ENST00000301587.9
RefSeq Accession: NM_006356
Protein: O75947 (aka ATP5H_HUMAN or ATPQ_HUMAN)
CCDS: CCDS11712.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.