Human Gene ATP5F1A (uc002lbr.2)
  Description: Homo sapiens ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle (ATP5F1A), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.
RefSeq Summary (NM_004046): This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, using an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the alpha subunit of the catalytic core. Alternatively spliced transcript variants encoding the different isoforms have been identified. Pseudogenes of this gene are located on chromosomes 9, 2, and 16. [provided by RefSeq, Mar 2012].
Transcript (Including UTRs)
   Position: hg19 chr18:43,664,110-43,678,319 Size: 14,210 Total Exon Count: 12 Strand: -
Coding Region
   Position: hg19 chr18:43,664,248-43,678,197 Size: 13,950 Coding Exon Count: 12 

Page IndexSequence and LinksUniProtKB CommentsPrimersGene AllelesRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr18:43,664,110-43,678,319)mRNA (may differ from genome)Protein (553 aa)
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PubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: ATPA_HUMAN
DESCRIPTION: RecName: Full=ATP synthase subunit alpha, mitochondrial; 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 synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation. Subunits alpha and beta form the catalytic core in F(1). 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 alpha does not bear the catalytic high-affinity ATP-binding sites (By similarity).
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) has three main subunits: a, b and c. Interacts with ATPAF2. Interacts with HRG; the interaction occurs on the surface of T- cells and alters the cell morphology when associated with concanavalin (in vitro). Interacts with PLG (angiostatin peptide); the interaction inhibits most of the angiogenic properties of angiostatin. 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). Interacts with BLOC1S1.
INTERACTION: P78537:BLOC1S1; NbExp=2; IntAct=EBI-351437, EBI-348630; Q9NTG7:SIRT3; NbExp=2; IntAct=EBI-351437, EBI-724621;
SUBCELLULAR LOCATION: Mitochondrion inner membrane. Cell membrane; Peripheral membrane protein; Extracellular side. Note=Colocalizes with HRG on the cell surface of T-cells.
TISSUE SPECIFICITY: Fetal lung, heart, liver, gut and kidney. Expressed at higher levels in the fetal brain, retina and spinal cord.
PTM: The N-terminus is blocked.
PTM: Acetylated on lysine residues. BLOC1S1 is required for acetylation.
SIMILARITY: Belongs to the ATPase alpha/beta chains family.

-  Primer design for this transcript
 

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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


+  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: 614.53 RPKM in Heart - Left Ventricle
Total median expression: 8934.71 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 -52.70122-0.432 Picture PostScript Text
3' UTR -19.70138-0.143 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
IPR020003 - ATPase_a/bsu_AS
IPR004100 - ATPase_a/bsu_N
IPR005294 - ATPase_F1-cplx_asu
IPR023366 - ATPase_F1/A1-cplx_a_su_N
IPR000793 - ATPase_F1/V1/A1-cplx_a/bsu_C
IPR000194 - ATPase_F1/V1/A1_a/bsu_nucl-bd

Pfam Domains:
PF00006 - ATP synthase alpha/beta family, nucleotide-binding domain
PF00306 - ATP synthase alpha/beta chain, C terminal domain
PF02874 - ATP synthase alpha/beta family, beta-barrel domain

SCOP Domains:
47917 - C-terminal domain of alpha and beta subunits of F1 ATP synthase
50615 - N-terminal domain of alpha and beta subunits of F1 ATP synthase
52540 - P-loop containing nucleoside triphosphate hydrolases

ModBase Predicted Comparative 3D Structure on P25705
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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
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0003723 RNA binding
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0022857 transmembrane transporter activity
GO:0032559 adenyl ribonucleotide binding
GO:0042288 MHC class I protein binding
GO:0043532 angiostatin binding
GO:0046933 proton-transporting ATP synthase activity, rotational mechanism
GO:0016887 ATPase activity

Biological Process:
GO:0001937 negative regulation of endothelial cell proliferation
GO:0006629 lipid metabolic 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:0043536 positive regulation of blood vessel endothelial cell migration
GO:0046034 ATP metabolic process
GO:0099132 ATP hydrolysis coupled cation transmembrane transport
GO:1902600 hydrogen ion transmembrane transport

Cellular Component:
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
GO:0005753 mitochondrial proton-transporting ATP synthase complex
GO:0005759 mitochondrial matrix
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0043209 myelin sheath
GO:0045259 proton-transporting ATP synthase complex
GO:0045261 proton-transporting ATP synthase complex, catalytic core F(1)
GO:0070062 extracellular exosome
GO:0008180 COP9 signalosome


-  Descriptions from all associated GenBank mRNAs
  BC003119 - Homo sapiens ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle, mRNA (cDNA clone IMAGE:3356657), partial cds.
CR627212 - Homo sapiens mRNA; cDNA DKFZp686N10225 (from clone DKFZp686N10225).
BC007299 - Homo sapiens ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle, mRNA (cDNA clone IMAGE:3351710), partial cds.
BC008028 - Homo sapiens ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle, mRNA (cDNA clone IMAGE:3608797), partial cds.
X65460 - H.sapiens mRNA for mitochondrial ATP synthase.
BC039135 - Homo sapiens ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle, mRNA (cDNA clone MGC:17237 IMAGE:3873390), complete cds.
BC042694 - Homo sapiens ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle, mRNA (cDNA clone IMAGE:3871266).
BC016046 - Homo sapiens ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle, mRNA (cDNA clone MGC:20426 IMAGE:4646761), complete cds.
BC001637 - Homo sapiens cDNA clone IMAGE:3355758, **** WARNING: chimeric clone ****.
BC011384 - Homo sapiens ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle, mRNA (cDNA clone MGC:9384 IMAGE:3867375), complete cds.
BC014208 - Homo sapiens ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle, mRNA (cDNA clone IMAGE:4634710), **** WARNING: chimeric clone ****.
BC019310 - Homo sapiens ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle, mRNA (cDNA clone MGC:4207 IMAGE:2823663), complete cds.
BC064562 - Homo sapiens ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle, mRNA (cDNA clone MGC:74538 IMAGE:5582043), complete cds.
BC067385 - Homo sapiens ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle, mRNA (cDNA clone MGC:60022 IMAGE:5491013), complete cds.
FJ224309 - Homo sapiens epididymis secretory sperm binding protein Li 123m (HEL-S-123m) mRNA, complete cds.
X59066 - Human mRNA for mitochondrial ATP synthase (F1-ATPase) alpha subunit.
AK129804 - Homo sapiens cDNA FLJ26293 fis, clone DMC07062, highly similar to ATP synthase alpha chain, mitochondrial precursor (EC 3.6.1.34).
BC028335 - Homo sapiens ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle, mRNA (cDNA clone IMAGE:4705390).
AK098765 - Homo sapiens cDNA FLJ25899 fis, clone CBR04003, highly similar to ATP SYNTHASE ALPHA CHAIN, MITOCHONDRIAL PRECURSOR (EC 3.6.1.34).
AK289457 - Homo sapiens cDNA FLJ77837 complete cds.
D14710 - Homo sapiens mRNA for ATP synthase alpha subunit, complete cds.
AK092735 - Homo sapiens cDNA FLJ35416 fis, clone SMINT2000694, highly similar to ATP synthase subunit alpha, mitochondrial precursor (EC 3.6.3.14).
AK129739 - Homo sapiens cDNA FLJ26228 fis, clone ADG08878, highly similar to ATP synthase alpha chain, mitochondrial precursor (EC 3.6.1.34).
AK129900 - Homo sapiens cDNA FLJ26390 fis, clone HRT07407, highly similar to ATP synthase alpha chain, mitochondrial precursor (EC 3.6.1.34).
AK302272 - Homo sapiens cDNA FLJ54107 complete cds, highly similar to ATP synthase subunit alpha, mitochondrial precursor (EC 3.6.3.14).
BT007209 - Homo sapiens ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 1, cardiac muscle mRNA, complete cds.
DQ890557 - Synthetic construct Homo sapiens clone IMAGE:100003187; FLH263570.01X; RZPDo839B1194D ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle (ATP5A1) gene, encodes complete protein; nuclear gene for mitochondrial product.
KJ890732 - Synthetic construct Homo sapiens clone ccsbBroadEn_00126 ATP5A1 gene, encodes complete protein.
KJ905693 - Synthetic construct Homo sapiens clone ccsbBroadEn_15363 ATP5A1 gene, encodes complete protein.
DQ894210 - Synthetic construct Homo sapiens clone IMAGE:100008670; FLH263675.01L; RZPDo839B1193D ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle (ATP5A1) gene, encodes complete protein; nuclear gene for mitochondrial product.
AB463421 - Synthetic construct DNA, clone: pF1KB8126, Homo sapiens ATP5A1 gene for ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle, without stop codon, in Flexi system.
JD023692 - Sequence 4716 from Patent EP1572962.
CU676424 - Synthetic construct Homo sapiens gateway clone IMAGE:100017405 5' read ATP5A1 mRNA.
AK294804 - Homo sapiens cDNA FLJ54625 complete cds, highly similar to ATP synthase subunit alpha, mitochondrial precursor (EC 3.6.3.14).
JD023050 - Sequence 4074 from Patent EP1572962.
JD025088 - Sequence 6112 from Patent EP1572962.
JD025286 - Sequence 6310 from Patent EP1572962.
JD027143 - Sequence 8167 from Patent EP1572962.
JD034775 - Sequence 15799 from Patent EP1572962.
AK310051 - Homo sapiens cDNA, FLJ17093.
JD035498 - Sequence 16522 from Patent EP1572962.
JD035812 - Sequence 16836 from Patent EP1572962.
JD019879 - Sequence 903 from Patent EP1572962.
JD019880 - Sequence 904 from Patent EP1572962.
JD026507 - Sequence 7531 from Patent EP1572962.
JD025541 - Sequence 6565 from Patent EP1572962.
JD024662 - Sequence 5686 from Patent EP1572962.
JD028585 - Sequence 9609 from Patent EP1572962.
JD035611 - Sequence 16635 from Patent EP1572962.
JD024800 - Sequence 5824 from Patent EP1572962.
JD020076 - Sequence 1100 from Patent EP1572962.
JD020077 - Sequence 1101 from Patent EP1572962.
JD020078 - Sequence 1102 from Patent EP1572962.
JD020079 - Sequence 1103 from Patent EP1572962.
JD020080 - Sequence 1104 from Patent EP1572962.
JD020081 - Sequence 1105 from Patent EP1572962.
JD026713 - Sequence 7737 from Patent EP1572962.
JD025398 - Sequence 6422 from Patent EP1572962.
JD027225 - Sequence 8249 from Patent EP1572962.
JD034010 - Sequence 15034 from Patent EP1572962.
JD025606 - Sequence 6630 from Patent EP1572962.
JD025607 - Sequence 6631 from Patent EP1572962.
JD025608 - Sequence 6632 from Patent EP1572962.
JD025609 - Sequence 6633 from Patent EP1572962.
JD027441 - Sequence 8465 from Patent EP1572962.
JD031701 - Sequence 12725 from Patent EP1572962.
JD027365 - Sequence 8389 from Patent EP1572962.
JD019358 - Sequence 382 from Patent EP1572962.
JD026052 - Sequence 7076 from Patent EP1572962.
JD021147 - Sequence 2171 from Patent EP1572962.
JD021662 - Sequence 2686 from Patent EP1572962.
JD032015 - Sequence 13039 from Patent EP1572962.
JD020033 - Sequence 1057 from Patent EP1572962.
JD035857 - Sequence 16881 from Patent EP1572962.
JD025311 - Sequence 6335 from Patent EP1572962.
JD023549 - Sequence 4573 from Patent EP1572962.
JD019599 - Sequence 623 from Patent EP1572962.
JD026619 - Sequence 7643 from Patent EP1572962.
JD025574 - Sequence 6598 from Patent EP1572962.
JD027204 - Sequence 8228 from Patent EP1572962.
JD023110 - Sequence 4134 from Patent EP1572962.
JD023111 - Sequence 4135 from Patent EP1572962.
JD023335 - Sequence 4359 from Patent EP1572962.
JD021606 - Sequence 2630 from Patent EP1572962.
JD030289 - Sequence 11313 from Patent EP1572962.
JD019673 - Sequence 697 from Patent EP1572962.
JD025000 - Sequence 6024 from Patent EP1572962.
JD021678 - Sequence 2702 from Patent EP1572962.
JD024630 - Sequence 5654 from Patent EP1572962.
JD033363 - Sequence 14387 from Patent EP1572962.
JD030582 - Sequence 11606 from Patent EP1572962.
JD021592 - Sequence 2616 from Patent EP1572962.
JD021593 - Sequence 2617 from Patent EP1572962.
JD021594 - Sequence 2618 from Patent EP1572962.
JD021595 - Sequence 2619 from Patent EP1572962.
JD156035 - Sequence 137059 from Patent EP1572962.
JD493726 - Sequence 474750 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

Reactome (by CSHL, EBI, and GO)

Protein P25705 (Reactome details) participates in the following event(s):

R-HSA-1268022 TOMM40 complex translocates proteins from the cytosol to the mitochondrial intermembrane space
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-1268020 Mitochondrial protein import
R-HSA-163210 Formation of ATP by chemiosmotic coupling
R-HSA-8949613 Cristae formation
R-HSA-392499 Metabolism of proteins
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: ATP5A, ATP5A1, ATP5AL2, ATPA_HUMAN, ATPM, NM_004046, NP_001244264, P25705, Q53XX6, Q8IXV2, Q96FB4, Q96HW2, Q96IR6, Q9BTV8, uc002lbr.1
UCSC ID: uc002lbr.2
RefSeq Accession: NM_004046
Protein: P25705 (aka ATPA_HUMAN)
CCDS: CCDS11927.1, CCDS59315.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_004046.5
exon count: 12CDS single in 3' UTR: no RNA size: 1927
ORF size: 1662CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 3524.00frame shift in genome: no % Coverage: 99.74
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 74# strange splices: 0
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.