Entity Details

Primary name NNTM_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ13423
EntryNameNNTM_HUMAN
FullNameNAD(P) transhydrogenase, mitochondrial
TaxID9606
Evidenceevidence at protein level
Length1086
SequenceStatuscomplete
DateCreated2000-05-30
DateModified2021-06-02

Ontological Relatives

GenesNNT

GO terms

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GOName
GO:0001933 negative regulation of protein phosphorylation
GO:0003957 NAD(P)+ transhydrogenase (B-specific) activity
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
GO:0005746 mitochondrial respirasome
GO:0006099 tricarboxylic acid cycle
GO:0006740 NADPH regeneration
GO:0008746 NAD(P)+ transhydrogenase activity
GO:0010918 positive regulation of mitochondrial membrane potential
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0032364 oxygen homeostasis
GO:0033273 response to vitamin
GO:0043066 negative regulation of apoptotic process
GO:0045454 cell redox homeostasis
GO:0050661 NADP binding
GO:0051287 NAD binding
GO:0072593 reactive oxygen species metabolic process
GO:0098869 cellular oxidant detoxification
GO:1902600 proton transmembrane transport
GO:1903285 positive regulation of hydrogen peroxide catabolic process

Subcellular Location

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Subcellular Location
Mitochondrion inner membrane

Domains

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DomainNameCategoryType
IPR007698 Alanine dehydrogenase/pyridine nucleotide transhydrogenase, NAD(H)-binding domainDomainDomain
IPR007886 Alanine dehydrogenase/pyridine nucleotide transhydrogenase, N-terminalDomainDomain
IPR008142 Alanine dehydrogenase/NAD(P) transhydrogenase, conserved site-1SiteConserved site
IPR008143 Alanine dehydrogenase/pyridine nucleotide transhydrogenase, conserved site-2SiteConserved site
IPR024605 NAD(P) transhydrogenase, alpha subunit, C-terminalDomainDomain
IPR026255 NAD(P) transhydrogenase, alpha subunitFamilyFamily
IPR029035 DHS-like NAD/FAD-binding domain superfamilyFamilyHomologous superfamily
IPR034300 NADP transhydrogenase beta-like domainDomainDomain
IPR036291 NAD(P)-binding domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
614736 OMIMGlucocorticoid deficiency 4 with or without mineralocorticoid deficiency (GCCD4)A form of glucocorticoid deficiency, a rare autosomal recessive disorder characterized by resistance to ACTH action on the adrenal cortex, adrenal insufficiency and an inability of the adrenal cortex to produce cortisol. It usually presents in the neonatal period or in early childhood with episodes of hypoglycemia and other symptoms related to cortisol deficiency, including failure to thrive, recurrent illnesses or infections, convulsions, and shock. In a small number of patients hypoglycemia can be sufficiently severe and persistent that it leads to serious long-term neurological damage or death. The diagnosis is readily confirmed with a low plasma cortisol measurement in the presence of an elevated ACTH level, and normal aldosterone and plasma renin measurements. The disease is caused by variants affecting the gene represented in this entry.

Drugs

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DrugNameSourceType
DB00157 NADHDrugbanksmall molecule
DB01763 7-thionicotinamide-adenine-dinucleotide phosphateDrugbanksmall molecule
DB03461 Nicotinamide adenine dinucleotide phosphateDrugbanksmall molecule
DB09092 XanthinolDrugbanksmall molecule

Interactions

1 interaction

InteractorPartnerSourcesPublicationsLink
NNTM_HUMANMVP_HUMANBioGRID, IntAct21988832 details