Human Gene ATP5F1D (ENST00000215375.7_4) from GENCODE V47lift37
  Description: ATP synthase F1 subunit delta, transcript variant 1 (from RefSeq NM_001687.5)
Gencode Transcript: ENST00000215375.7_4
Gencode Gene: ENSG00000099624.8_11
Transcript (Including UTRs)
   Position: hg19 chr19:1,241,750-1,244,824 Size: 3,075 Total Exon Count: 4 Strand: +
Coding Region
   Position: hg19 chr19:1,241,850-1,244,436 Size: 2,587 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsPrimersGene AllelesRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:1,241,750-1,244,824)mRNA (may differ from genome)Protein (168 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsMGI
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: ATPD_HUMAN
DESCRIPTION: RecName: Full=ATP synthase subunit delta, mitochondrial; AltName: Full=F-ATPase delta subunit; Flags: Precursor;
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 turnover 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.
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). 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 epsilon chain family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
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.
Click here to open Exonprimer with this transcript

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


+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 180.73 RPKM in Muscle - Skeletal
Total median expression: 4231.64 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 -27.50100-0.275 Picture PostScript Text
3' UTR -177.80388-0.458 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
IPR001469 - ATPase_F1-cplx_dsu/esu
IPR020547 - ATPase_F1-cplx_dsu/esu_C
IPR020546 - ATPase_F1-cplx_dsu/esu_N

Pfam Domains:
PF02823 - ATP synthase, Delta/Epsilon chain, beta-sandwich domain

SCOP Domains:
46604 - Epsilon subunit of F1F0-ATP synthase C-terminal domain
51344 - Epsilon subunit of F1F0-ATP synthase N-terminal domain
55594 - HPr-like

ModBase Predicted Comparative 3D Structure on P30049
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005215 transporter activity
GO:0016887 ATPase activity
GO:0022857 transmembrane transporter activity
GO:0046933 proton-transporting ATP synthase activity, rotational mechanism
GO:0005524 ATP binding
GO:0043531 ADP binding

Biological Process:
GO:0006119 oxidative phosphorylation
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:0046688 response to copper ion
GO:0099132 ATP hydrolysis coupled cation transmembrane transport

Cellular Component:
GO:0000275 mitochondrial proton-transporting ATP synthase complex, catalytic core F(1)
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
GO:0005753 mitochondrial proton-transporting ATP synthase complex
GO:0005759 mitochondrial matrix
GO:0016020 membrane
GO:0045261 proton-transporting ATP synthase complex, catalytic core F(1)


-  Descriptions from all associated GenBank mRNAs
  BC002389 - Homo sapiens ATP synthase, H+ transporting, mitochondrial F1 complex, delta subunit, mRNA (cDNA clone MGC:8347 IMAGE:2819749), complete cds.
BC004426 - Homo sapiens ATP synthase, H+ transporting, mitochondrial F1 complex, delta subunit, mRNA (cDNA clone MGC:3724 IMAGE:2819749), complete cds.
BC018817 - Homo sapiens ATP synthase, H+ transporting, mitochondrial F1 complex, delta subunit, mRNA (cDNA clone IMAGE:2819750).
LF384661 - JP 2014500723-A/192164: Polycomb-Associated Non-Coding RNAs.
JD461916 - Sequence 442940 from Patent EP1572962.
JD140217 - Sequence 121241 from Patent EP1572962.
AK094357 - Homo sapiens cDNA FLJ37038 fis, clone BRACE2011646, weakly similar to ATP SYNTHASE DELTA CHAIN, MITOCHONDRIAL PRECURSOR (EC 3.6.1.34).
S87916 - Homo sapiens mitochondrial ATP synthase complex delta-subunit precusor mRNA, complete cds, alternatively spliced; nuclear gene for mitochondrial product.
S87918 - Homo sapiens mitochondrial ATP synthase complex delta-subunit precusor mRNA, complete cds, alternatively spliced; nuclear gene for mitochondrial product.
X63422 - Homo sapiens mRNA for delta-subunit of mitochondrial F1F0 ATP-synthase (clone #1).
X63423 - Home sapiens mRNA for delta-subunit of mitochondrial F1F0 ATP-synthase (clone #5).
BC058927 - Homo sapiens ATP synthase, H+ transporting, mitochondrial F1 complex, delta subunit, mRNA (cDNA clone IMAGE:5229155), partial cds.
JD467087 - Sequence 448111 from Patent EP1572962.
BC050458 - Homo sapiens ATP synthase, H+ transporting, mitochondrial F1 complex, delta subunit, mRNA (cDNA clone IMAGE:5770003), partial cds.
LF323082 - JP 2014500723-A/130585: Polycomb-Associated Non-Coding RNAs.
KJ890735 - Synthetic construct Homo sapiens clone ccsbBroadEn_00129 ATP5D gene, encodes complete protein.
BC018079 - Homo sapiens ATP synthase, H+ transporting, mitochondrial F1 complex, delta subunit, mRNA (cDNA clone MGC:26808 IMAGE:4798666), complete cds.
CR542218 - Homo sapiens full open reading frame cDNA clone RZPDo834C0725D for gene ATP5D, ATP synthase, H+ transporting, mitochondrial F1 complex, delta subunit; complete cds, incl. stopcodon.
LF323083 - JP 2014500723-A/130586: Polycomb-Associated Non-Coding RNAs.
LF323085 - JP 2014500723-A/130588: Polycomb-Associated Non-Coding RNAs.
LF323086 - JP 2014500723-A/130589: Polycomb-Associated Non-Coding RNAs.
JD109052 - Sequence 90076 from Patent EP1572962.
JD485166 - Sequence 466190 from Patent EP1572962.
JD223124 - Sequence 204148 from Patent EP1572962.
JD310286 - Sequence 291310 from Patent EP1572962.
JD406836 - Sequence 387860 from Patent EP1572962.
JD368959 - Sequence 349983 from Patent EP1572962.
JD137008 - Sequence 118032 from Patent EP1572962.
JD215418 - Sequence 196442 from Patent EP1572962.
JD108284 - Sequence 89308 from Patent EP1572962.
JD214579 - Sequence 195603 from Patent EP1572962.
JD150285 - Sequence 131309 from Patent EP1572962.
JD372332 - Sequence 353356 from Patent EP1572962.
LF323087 - JP 2014500723-A/130590: Polycomb-Associated Non-Coding RNAs.
JD381277 - Sequence 362301 from Patent EP1572962.
MA620238 - JP 2018138019-A/192164: Polycomb-Associated Non-Coding RNAs.
MA558659 - JP 2018138019-A/130585: Polycomb-Associated Non-Coding RNAs.
MA558660 - JP 2018138019-A/130586: Polycomb-Associated Non-Coding RNAs.
MA558662 - JP 2018138019-A/130588: Polycomb-Associated Non-Coding RNAs.
MA558663 - JP 2018138019-A/130589: Polycomb-Associated Non-Coding RNAs.
MA558664 - JP 2018138019-A/130590: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  BioCyc Knowledge Library
PWY-7980 - ATP biosynthesis

Reactome (by CSHL, EBI, and GO)

Protein P30049 (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: ATP5D , ATP5F1D , ATPD_HUMAN, D6W5Y3, ENST00000215375.1, ENST00000215375.2, ENST00000215375.3, ENST00000215375.4, ENST00000215375.5, ENST00000215375.6, NM_001687, P30049, Q6FG90, uc317clv.1, uc317clv.2
UCSC ID: ENST00000215375.7_4
RefSeq Accession: NM_001687.5
Protein: P30049 (aka ATPD_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

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