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Search results 201 to 237 out of 237 for Atp6ap1

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Type Details Score
Publication
- | J:85324
     
First Author: Mouse Genome Informatics Group
Year: 2003
Journal: Database Procedure
Title: Automatic Encodes (AutoE) Reference
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Publication
- | J:53168
     
First Author: Bairoch A
Year: 1999
Journal: Database Release
Title: SWISS-PROT Annotated protein sequence database
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Publication
- | J:91388
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2005
Title: Obtaining and Loading Genome Assembly Coordinates from Ensembl Annotations
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Publication
- | J:155221
     
First Author: Mouse Genome Informatics
Year: 2010
Journal: Database Release
Title: Protein Ontology Association Load.
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Publication
- | J:90438
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2005
Title: Obtaining and loading genome assembly coordinates from NCBI annotations
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Publication
- | J:144087
     
First Author: Mouse Genome Informatics Scientific Curators
Year: 2009
Journal: Database Download
Title: Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Genome 430 2.0 Array Platform
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Publication
27231034 | -
 
First Author: Jansen EJ
Year: 2016
Journal: Nat Commun
Title: ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation.
Volume: 7
Pages: 11600
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DO Term
DOID:0112002 | immunodeficiency 47
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Publication
18799613 | -
First Author: Ryan M
Year: 2008
Journal: Mol Biol Cell
Title: Voa1p functions in V-ATPase assembly in the yeast endoplasmic reticulum.
Volume: 19
Issue: 12
Pages: 5131-42
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Protein Domain
IPR046756 | VAS1/VOA1_TM
Type: Domain
Description: This entry represents the transmembrane domain from ER/Golgi membrane proteins including V-type proton ATPase subunit S1 V0 complex accessory subunit Ac45 (VAS1, also known as V0 complex accessory subunit Ac45, ATP6AP1) from animals and the yeast homologue V0 assembly protein 1 (VOA1) which are essential for V0 ATPase assembly, stability and function [, ]. In humans, mutations of ATP6AP1 cause immunodeficiency with hypogammaglobulinemia, hepatopathy and neurocognitive abnormalities []. This entry also includes ER membrane BIG1 proteins from yeast, involved in cell wall biogenesis.
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Publication
35197629 | J:342797
First Author: Ma T
Year: 2022
Journal: Nature
Title: Low-dose metformin targets the lysosomal AMPK pathway through PEN2.
Volume: 603
Issue: 7899
Pages: 159-165
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Publication
39400061 | J:360130
First Author: Chen L
Year: 2024
Journal: J Bone Miner Res
Title: Osteoclastic ATP6AP2 maintains β-catenin levels to prevent hyper-osteoclastic activation and trabecular bone-loss.
Volume: 39
Issue: 12
Pages: 1821-1834
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Protein
Q9R1Q9
Organism: Mus musculus/domesticus
Length: 463  
Fragment?: false
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Protein
Q3TWN7
Organism: Mus musculus/domesticus
Length: 463  
Fragment?: false
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Protein
Q3UWN7
Organism: Mus musculus/domesticus
Length: 378  
Fragment?: true
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Protein
Q3UCY7
Organism: Mus musculus/domesticus
Length: 463  
Fragment?: false
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Protein
Q3THZ3
Organism: Mus musculus/domesticus
Length: 463  
Fragment?: false
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Protein
Q571E2
Organism: Mus musculus/domesticus
Length: 487  
Fragment?: true
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Protein
Q3TT23
Organism: Mus musculus/domesticus
Length: 463  
Fragment?: false
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Protein
D3Z5W0
Organism: Mus musculus/domesticus
Length: 336  
Fragment?: false
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Protein
A0A139ZDP1
Organism: Mus musculus/domesticus
Length: 336  
Fragment?: false
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Publication
28296633 | -
   
First Author: Miles AL
Year: 2017
Journal: Elife
Title: The vacuolar-ATPase complex and assembly factors, TMEM199 and CCDC115, control HIF1α prolyl hydroxylation by regulating cellular iron levels.
Volume: 6
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Publication
7929063 | -
First Author: Supek F
Year: 1994
Journal: J Biol Chem
Title: A novel accessory subunit for vacuolar H(+)-ATPase from chromaffin granules.
Volume: 269
Issue: 39
Pages: 24102-6
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Protein Domain
IPR046755 | VAS1_LD
Type: Domain
Description: This entry represents the luminal domain (LD) found in eukaryotic V-type proton ATPase subunit S1 (VAS1), involved in V-ATPase V0 assembly, also known as Ac45 subunit (ATP6AP1) [, ]. This domain folds as a globular β-prism structure which is structurally similar to LAMP1-3, thus, the LD domain of Ac45 is an evolutionarily conserved member of the LAMP family []. Ac45 is an ER membrane protein that guides the V-type ATPase into specialised subcellular compartments []and is critical for Vo complex assembly as it connects to multiple Vo subunitsand phospholipids in the c-ring []. Missense mutations in the X-linked ATP6AP1 gene cause immunodeficiency in males that leads to recurrent bacterial infection, hepatopathy, cognitive impairment, and abnormal protein glycosylation [].
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Protein
Q8K567
Organism: Mus musculus/domesticus
Length: 96  
Fragment?: true
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Protein
Q3TKX1
Organism: Mus musculus/domesticus
Length: 415  
Fragment?: false
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Protein
S4R1Q9
Organism: Mus musculus/domesticus
Length: 87  
Fragment?: true
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Protein
S4R264
Organism: Mus musculus/domesticus
Length: 144  
Fragment?: true
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Protein
B7FAU7
Organism: Mus musculus/domesticus
Length: 272  
Fragment?: true
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Protein
B7FAU3
Organism: Mus musculus/domesticus
Length: 224  
Fragment?: true
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Protein
F6X9J0
Organism: Mus musculus/domesticus
Length: 101  
Fragment?: true
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Protein
F6ZE56
Organism: Mus musculus/domesticus
Length: 68  
Fragment?: true
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Publication
10336633 | -
First Author: Holthuis JC
Year: 1999
Journal: Eur J Biochem
Title: Biosynthesis of the vacuolar H+-ATPase accessory subunit Ac45 in Xenopus pituitary.
Volume: 262
Issue: 2
Pages: 484-91
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Protein Domain
IPR008388 | Ac45_acc_su
Type: Family
Description: V-ATPases (also known as V1V0-ATPase or vacuolar ATPase) are found in the eukaryotic endomembrane system, and in the plasma membrane of prokaryotes and certain specialised eukaryotic cells. V-ATPases hydrolyse ATP to drive a proton pump, and are involved in a variety of vital intra- and inter-cellular processes such as receptor mediated endocytosis, protein trafficking, active transport of metabolites, homeostasis and neurotransmitter release []. V-ATPases are composed of two linked complexes: the V1 complex (subunits A-H) contains the catalytic core that hydrolyses ATP, while the V0 complex (subunits a, c, c', c'', d) forms the membrane-spanning pore. V-ATPases may have an additional role in membrane fusion through binding to t-SNARE proteins [].This entry represents the V0 complex Ac45 accessory subunit (ATP6AP1, also known as V-type proton ATPase subunit S1), an ER/Golgi membrane protein. This subunit is synthesized as an N-glycosylated 60kDa precursor that is intracellularly cleaved to a protein of about 45kDa. This subunit plays a crucial role on V0 assembly, stability and function as it connects to multiple V0 subunits and phospholipids in the c-ring []. This subunit assists the V-ATPase in the acidification of neuroendocrine granules []and guides the V-ATPase into specialized subcellular compartments such as neuroendocrine regulated secretory vesicles or the ruffled border of the osteoclast []. In humans, mutations of ATP6AP1 cause immunodeficiency with hypogammaglobulinemia, hepatopathy and neurocognitive abnormalities [].
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Publication
33065002 | -
First Author: Wang L
Year: 2020
Journal: Mol Cell
Title: Structures of a Complete Human V-ATPase Reveal Mechanisms of Its Assembly.
Volume: 80
Issue: 3
Pages: 501-511.e3
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Publication
15907459 | -
First Author: Bajjalieh S
Year: 2005
Journal: Cell
Title: A new view of an old pore.
Volume: 121
Issue: 4
Pages: 496-7
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Publication
15629643 | -
First Author: Wilkens S
Year: 2005
Journal: Micron
Title: A structural model of the vacuolar ATPase from transmission electron microscopy.
Volume: 36
Issue: 2
Pages: 109-26
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