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Search results 1 to 12 out of 12 for Atp5md

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Hits by Category

Type Details Score
Gene
794625 | atp5md
Type: gene
Organism: zebrafish
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Allele
Atp5mk<em1Smoc> | MGI:7288393
Name: ATP synthase membrane subunit k; endonuclease-mediated mutation 1, Shanghai Model Organisms Center
Allele Type: Endonuclease-mediated
Attribute String: Null/knockout
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Protein
Q78IK2
Organism: Mus musculus/domesticus
Length: 58  
Fragment?: false
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Gene
84833 | ATP5MK
Type: gene
Organism: human
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Strain
MGI:6474822 | C57BL/6J-Atp5mk<em1Smoc>/Smoc
Attribute String: coisogenic, endonuclease-mediated mutation, mutant strain
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Protein Coding Gene
MGI:1891435 | Atp5mk
Type: protein_coding_gene
Organism: mouse, laboratory
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DO Term
DOID:0111749 | mitochondrial complex V (ATP synthase) deficiency nuclear type 6
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Publication
21345788 | -
First Author: Ohsakaya S
Year: 2011
Journal: J Biol Chem
Title: Knockdown of DAPIT (diabetes-associated protein in insulin-sensitive tissue) results in loss of ATP synthase in mitochondria.
Volume: 286
Issue: 23
Pages: 20292-6
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Publication
26161955 | -
First Author: Kontro H
Year: 2015
Journal: PLoS One
Title: DAPIT Over-Expression Modulates Glucose Metabolism and Cell Behaviour in HEK293T Cells.
Volume: 10
Issue: 7
Pages: e0131990
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Publication
29917077 | -
First Author: Barca E
Year: 2018
Journal: Hum Mol Genet
Title: USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesis.
Volume: 27
Issue: 19
Pages: 3305-3312
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Protein Domain
IPR009125 | ATPMK
Type: Family
Description: ATP synthase membrane subunit K (ATPMK, also known as DAPIT) is a subunit of mitochondrial ATP synthase that 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 [, ]. In humans ATP5MD (also known as DAPIT) is a minor subunit of the mitochondrial membrane ATP synthase required for dimerization of the ATP synthase complex and as such regulates ATP synthesis in the mitochondria [, ].Mutations of the ATP5MD gene cause mitochondrial complex V deficiency, nuclear type 6 (MC5DN6), an autosomal recessive mitochondrial disorder characterized by gross motor developmental delay manifesting in the first years of life, and subsequent episodic developmental regression [].
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Publication
- | J:238766
     
First Author: Shanghai Model Organisms Center
Year: 2017
Journal: MGI Direct Data Submission
Title: Information obtained from the Shanghai Model Organisms Center (SMOC), Shanghai, China
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