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Entry version 194 (13 Nov 2019)
Sequence version 3 (16 Aug 2004)
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Protein

NAD(P) transhydrogenase, mitochondrial

Gene

NNT

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

The transhydrogenation between NADH and NADP is coupled to respiration and ATP hydrolysis and functions as a proton pump across the membrane (By similarity). May play a role in reactive oxygen species (ROS) detoxification in the adrenal gland (PubMed:22634753).By similarity1 Publication

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei237NAD; via amide nitrogenBy similarity1
Binding sitei300NADBy similarity1
Binding sitei319NAD; via carbonyl oxygenBy similarity1
Binding sitei933NADP; via amide nitrogenCombined sources3 Publications1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi182 – 184NADBy similarity3
Nucleotide bindingi257 – 259NADBy similarity3
Nucleotide bindingi965 – 970NADPCombined sources3 Publications6
Nucleotide bindingi1007 – 1011NADPCombined sources3 Publications5
Nucleotide bindingi1026 – 1027NADPCombined sources2 Publications2
Nucleotide bindingi1042 – 1049NADPCombined sources3 Publications8
Nucleotide bindingi1068 – 1069NADPCombined sources3 Publications2

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionTranslocase
LigandNAD, NADP, Nucleotide-binding

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

More...
BioCyci
MetaCyc:HS03639-MONOMER

BRENDA Comprehensive Enzyme Information System

More...
BRENDAi
1.6.1.2 2681

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-71403 Citric acid cycle (TCA cycle)

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
NAD(P) transhydrogenase, mitochondrial (EC:7.1.1.1By similarity)
Alternative name(s):
Nicotinamide nucleotide transhydrogenase
Pyridine nucleotide transhydrogenase
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:NNT
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 5

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:7863 NNT

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
607878 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q13423

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini44 – 474Mitochondrial matrixBy similarityAdd BLAST431
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei475 – 493HelicalSequence analysisAdd BLAST19
Transmembranei501 – 521HelicalSequence analysisAdd BLAST21
Transmembranei527 – 546HelicalSequence analysisAdd BLAST20
Transmembranei558 – 578HelicalSequence analysisAdd BLAST21
Topological domaini579 – 595Mitochondrial matrixBy similarityAdd BLAST17
Transmembranei596 – 616HelicalSequence analysisAdd BLAST21
Transmembranei622 – 642HelicalSequence analysisAdd BLAST21
Transmembranei646 – 666HelicalSequence analysisAdd BLAST21
Transmembranei672 – 691HelicalSequence analysisAdd BLAST20
Transmembranei702 – 722HelicalSequence analysisAdd BLAST21
Topological domaini723 – 739CytoplasmicBy similarityAdd BLAST17
Transmembranei740 – 760HelicalSequence analysisAdd BLAST21
Transmembranei778 – 797HelicalSequence analysisAdd BLAST20
Transmembranei801 – 819HelicalSequence analysisAdd BLAST19
Transmembranei833 – 853HelicalSequence analysisAdd BLAST21
Transmembranei857 – 879HelicalSequence analysisAdd BLAST23
Topological domaini880 – 1086Mitochondrial matrixBy similarityAdd BLAST207

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency (GCCD4)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_068781193S → N in GCCD4. 1 PublicationCorresponds to variant dbSNP:rs867004061Ensembl.1
Natural variantiVAR_068782357T → A in GCCD4. 1 PublicationCorresponds to variant dbSNP:rs1447408865Ensembl.1
Natural variantiVAR_068783365H → P in GCCD4. 1 Publication1
Natural variantiVAR_068784437P → L in GCCD4. 1 PublicationCorresponds to variant dbSNP:rs781183677Ensembl.1
Natural variantiVAR_068785533A → V in GCCD4. 1 PublicationCorresponds to variant dbSNP:rs387907232EnsemblClinVar.1
Natural variantiVAR_068786664G → R in GCCD4. 1 PublicationCorresponds to variant dbSNP:rs371979800Ensembl.1
Natural variantiVAR_068787678G → R in GCCD4. 1 Publication1
Natural variantiVAR_068788862G → D in GCCD4. 1 PublicationCorresponds to variant dbSNP:rs1474421419Ensembl.1
Natural variantiVAR_068789977L → P in GCCD4. 1 PublicationCorresponds to variant dbSNP:rs387907233EnsemblClinVar.1
Natural variantiVAR_0687901008A → P in GCCD4. 1 PublicationCorresponds to variant dbSNP:rs387907234EnsemblClinVar.1
Natural variantiVAR_0687911009N → K in GCCD4. 1 PublicationCorresponds to variant dbSNP:rs370273690EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
23530

MalaCards human disease database

More...
MalaCardsi
NNT
MIMi614736 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000112992

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
361 Familial glucocorticoid deficiency

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA31667

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q13423

Chemistry databases

Drug and drug target database

More...
DrugBanki
DB03461 2'-Monophosphoadenosine 5'-Diphosphoribose
DB01763 7-thionicotinamide-adenine-dinucleotide phosphate
DB00157 NADH
DB09092 Xanthinol

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
NNT

Domain mapping of disease mutations (DMDM)

More...
DMDMi
51338801

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a transit peptide.<p><a href='/help/transit' target='_top'>More...</a></p>Transit peptidei1 – 43MitochondrionBy similarityAdd BLAST43
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000000105544 – 1086NAD(P) transhydrogenase, mitochondrialAdd BLAST1043

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei70N6-acetyllysineCombined sources1
Modified residuei117N6-succinyllysineBy similarity1
Modified residuei224N6-succinyllysineBy similarity1
Modified residuei294N6-succinyllysineBy similarity1
Modified residuei331N6-succinyllysineBy similarity1
Modified residuei397N6-acetyllysineCombined sources1
Modified residuei1079N6-succinyllysineBy similarity1

Keywords - PTMi

Acetylation

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q13423

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q13423

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q13423

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q13423

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q13423

PeptideAtlas

More...
PeptideAtlasi
Q13423

PRoteomics IDEntifications database

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PRIDEi
Q13423

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
59408

PTM databases

CarbonylDB database of protein carbonylation sites

More...
CarbonylDBi
Q13423

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q13423

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q13423

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
Q13423

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Widely expressed with expression most readily detectable in adrenal, heart, kidney, thyroid and adipose tissues.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000112992 Expressed in 221 organ(s), highest expression level in heart

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q13423 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q13423 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
CAB004975
HPA004829

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homodimer.

By similarity

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
117076, 59 interactors

Protein interaction database and analysis system

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IntActi
Q13423, 29 interactors

Molecular INTeraction database

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MINTi
Q13423

STRING: functional protein association networks

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STRINGi
9606.ENSP00000264663

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

11086
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q13423

Database of comparative protein structure models

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ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

More...
PDBe-KBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
Q13423

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

In the N-terminal section; belongs to the AlaDH/PNT family.Curated
In the C-terminal section; belongs to the PNT beta subunit family.Curated

Keywords - Domaini

Transit peptide, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IEMU Eukaryota
COG1282 LUCA
COG3288 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000004624

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000160623

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q13423

KEGG Orthology (KO)

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KOi
K00323

Identification of Orthologs from Complete Genome Data

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OMAi
MSNAFTF

Database of Orthologous Groups

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OrthoDBi
220278at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q13423

TreeFam database of animal gene trees

More...
TreeFami
TF300636

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR008143 Ala_DH/PNT_CS2
IPR008142 AlaDH/PNT_CS1
IPR007886 AlaDH/PNT_N
IPR007698 AlaDH/PNT_NAD(H)-bd
IPR029035 DHS-like_NAD/FAD-binding_dom
IPR036291 NAD(P)-bd_dom_sf
IPR026255 NADP_transhyd_a
IPR024605 NADP_transhyd_a_C
IPR034300 PNTB-like

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF01262 AlaDh_PNT_C, 1 hit
PF05222 AlaDh_PNT_N, 1 hit
PF02233 PNTB, 1 hit
PF12769 PNTB_4TM, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM01002 AlaDh_PNT_C, 1 hit
SM01003 AlaDh_PNT_N, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF51735 SSF51735, 1 hit
SSF52467 SSF52467, 1 hit

TIGRFAMs; a protein family database

More...
TIGRFAMsi
TIGR00561 pntA, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00836 ALADH_PNT_1, 1 hit
PS00837 ALADH_PNT_2, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry has 1 described isoform and 13 potential isoforms that are computationally mapped.Show allAlign All

Q13423-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MANLLKTVVT GCSCPLLSNL GSCKGLRVKK DFLRTFYTHQ ELWCKAPVKP
60 70 80 90 100
GIPYKQLTVG VPKEIFQNEK RVALSPAGVQ NLVKQGFNVV VESGAGEASK
110 120 130 140 150
FSDDHYRVAG AQIQGAKEVL ASDLVVKVRA PMVNPTLGVH EADLLKTSGT
160 170 180 190 200
LISFIYPAQN PELLNKLSQR KTTVLAMDQV PRVTIAQGYD ALSSMANIAG
210 220 230 240 250
YKAVVLAANH FGRFFTGQIT AAGKVPPAKI LIVGGGVAGL ASAGAAKSMG
260 270 280 290 300
AIVRGFDTRA AALEQFKSLG AEPLEVDLKE SGEGQGGYAK EMSKEFIEAE
310 320 330 340 350
MKLFAQQCKE VDILISTALI PGKKAPVLFN KEMIESMKEG SVVVDLAAEA
360 370 380 390 400
GGNFETTKPG ELYIHKGITH IGYTDLPSRM ATQASTLYSN NITKLLKAIS
410 420 430 440 450
PDKDNFYFDV KDDFDFGTMG HVIRGTVVMK DGKVIFPAPT PKNIPQGAPV
460 470 480 490 500
KQKTVAELEA EKAATITPFR KTMSTASAYT AGLTGILGLG IAAPNLAFSQ
510 520 530 540 550
MVTTFGLAGI VGYHTVWGVT PALHSPLMSV TNAISGLTAV GGLALMGGHL
560 570 580 590 600
YPSTTSQGLA ALAAFISSVN IAGGFLVTQR MLDMFKRPTD PPEYNYLYLL
610 620 630 640 650
PAGTFVGGYL AALYSGYNIE QIMYLGSGLC CVGALAGLST QGTARLGNAL
660 670 680 690 700
GMIGVAGGLA ATLGVLKPGP ELLAQMSGAM ALGGTIGLTI AKRIQISDLP
710 720 730 740 750
QLVAAFHSLV GLAAVLTCIA EYIIEYPHFA TDAAANLTKI VAYLGTYIGG
760 770 780 790 800
VTFSGSLIAY GKLQGLLKSA PLLLPGRHLL NAGLLAASVG GIIPFMVDPS
810 820 830 840 850
FTTGITCLGS VSALSAVMGV TLTAAIGGAD MPVVITVLNS YSGWALCAEG
860 870 880 890 900
FLLNNNLLTI VGALIGSSGA ILSYIMCVAM NRSLANVILG GYGTTSTAGG
910 920 930 940 950
KPMEISGTHT EINLDNAIDM IREANSIIIT PGYGLCAAKA QYPIADLVKM
960 970 980 990 1000
LTEQGKKVRF GIHPVAGRMP GQLNVLLAEA GVPYDIVLEM DEINHDFPDT
1010 1020 1030 1040 1050
DLVLVIGAND TVNSAAQEDP NSIIAGMPVL EVWKSKQVIV MKRSLGVGYA
1060 1070 1080
AVDNPIFYKP NTAMLLGDAK KTCDALQAKV RESYQK
Length:1,086
Mass (Da):113,896
Last modified:August 16, 2004 - v3
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i8A437658CA0EB41B
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 13 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9PCX7E9PCX7_HUMAN
NAD(P) transhydrogenase, mitochondr...
NNT
955Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
D6RAI5D6RAI5_HUMAN
NAD(P) transhydrogenase, mitochondr...
NNT
217Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
D6RHU2D6RHU2_HUMAN
NAD(P) transhydrogenase, mitochondr...
NNT
199Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
D6RCR6D6RCR6_HUMAN
NAD(P) transhydrogenase, mitochondr...
NNT
58Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0Y9R2H0Y9R2_HUMAN
NAD(P) transhydrogenase, mitochondr...
NNT
11Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A590UJA4A0A590UJA4_HUMAN
NAD(P) transhydrogenase, mitochondr...
NNT
201Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A590UJI3A0A590UJI3_HUMAN
NAD(P) transhydrogenase, mitochondr...
NNT
565Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A590UJM2A0A590UJM2_HUMAN
NAD(P) transhydrogenase, mitochondr...
NNT
487Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A590UJM7A0A590UJM7_HUMAN
NAD(P) transhydrogenase, mitochondr...
NNT
57Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A590UJV8A0A590UJV8_HUMAN
NAD(P) transhydrogenase, mitochondr...
NNT
56Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
There are more potential isoformsShow all

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti176A → T in CAA90428 (PubMed:8616157).Curated1
Sequence conflicti212G → E in CAD38536 (PubMed:17974005).Curated1
Sequence conflicti246A → E in AAC51914 (PubMed:9524818).Curated1
Sequence conflicti262A → S in AAC51914 (PubMed:9524818).Curated1
Sequence conflicti706F → S in AAC51914 (PubMed:9524818).Curated1
Sequence conflicti731T → P in AAC51914 (PubMed:9524818).Curated1
Sequence conflicti810S → A in CAA90428 (PubMed:8616157).Curated1
Sequence conflicti824A → P in CAA90428 (PubMed:8616157).Curated1
Sequence conflicti871I → P in AAC51914 (PubMed:9524818).Curated1
Sequence conflicti929I → F in AAC51914 (PubMed:9524818).Curated1
Sequence conflicti1059K → R in CAD38536 (PubMed:17974005).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_068781193S → N in GCCD4. 1 PublicationCorresponds to variant dbSNP:rs867004061Ensembl.1
Natural variantiVAR_068782357T → A in GCCD4. 1 PublicationCorresponds to variant dbSNP:rs1447408865Ensembl.1
Natural variantiVAR_068783365H → P in GCCD4. 1 Publication1
Natural variantiVAR_068784437P → L in GCCD4. 1 PublicationCorresponds to variant dbSNP:rs781183677Ensembl.1
Natural variantiVAR_068785533A → V in GCCD4. 1 PublicationCorresponds to variant dbSNP:rs387907232EnsemblClinVar.1
Natural variantiVAR_068786664G → R in GCCD4. 1 PublicationCorresponds to variant dbSNP:rs371979800Ensembl.1
Natural variantiVAR_068787678G → R in GCCD4. 1 Publication1
Natural variantiVAR_068788862G → D in GCCD4. 1 PublicationCorresponds to variant dbSNP:rs1474421419Ensembl.1
Natural variantiVAR_068789977L → P in GCCD4. 1 PublicationCorresponds to variant dbSNP:rs387907233EnsemblClinVar.1
Natural variantiVAR_0687901008A → P in GCCD4. 1 PublicationCorresponds to variant dbSNP:rs387907234EnsemblClinVar.1
Natural variantiVAR_0687911009N → K in GCCD4. 1 PublicationCorresponds to variant dbSNP:rs370273690EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
U40490 mRNA Translation: AAC51914.1
Z50101 mRNA Translation: CAA90428.1
AL831822 mRNA Translation: CAD38536.1
BC110543 mRNA Translation: AAI10544.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS3949.1

Protein sequence database of the Protein Information Resource

More...
PIRi
G02257

NCBI Reference Sequences

More...
RefSeqi
NP_036475.3, NM_012343.3
NP_892022.2, NM_182977.2
XP_005248331.1, XM_005248274.4
XP_011512303.1, XM_011514001.2
XP_016864782.1, XM_017009293.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000264663; ENSP00000264663; ENSG00000112992
ENST00000344920; ENSP00000343873; ENSG00000112992
ENST00000653251; ENSP00000499281; ENSG00000112992
ENST00000656666; ENSP00000499249; ENSG00000112992
ENST00000662525; ENSP00000499639; ENSG00000112992
ENST00000669601; ENSP00000499527; ENSG00000112992
ENST00000670904; ENSP00000499611; ENSG00000112992
ENST00000671668; ENSP00000499494; ENSG00000112992

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
23530

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:23530

UCSC genome browser

More...
UCSCi
uc003joe.4 human

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U40490 mRNA Translation: AAC51914.1
Z50101 mRNA Translation: CAA90428.1
AL831822 mRNA Translation: CAD38536.1
BC110543 mRNA Translation: AAI10544.1
CCDSiCCDS3949.1
PIRiG02257
RefSeqiNP_036475.3, NM_012343.3
NP_892022.2, NM_182977.2
XP_005248331.1, XM_005248274.4
XP_011512303.1, XM_011514001.2
XP_016864782.1, XM_017009293.1

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

More...
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1DJLX-ray2.00A/B880-1086[»]
1PT9X-ray2.42A/B880-1086[»]
1U31X-ray2.20A/B880-1086[»]
SMRiQ13423
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGridi117076, 59 interactors
IntActiQ13423, 29 interactors
MINTiQ13423
STRINGi9606.ENSP00000264663

Chemistry databases

DrugBankiDB03461 2'-Monophosphoadenosine 5'-Diphosphoribose
DB01763 7-thionicotinamide-adenine-dinucleotide phosphate
DB00157 NADH
DB09092 Xanthinol

PTM databases

CarbonylDBiQ13423
iPTMnetiQ13423
PhosphoSitePlusiQ13423
SwissPalmiQ13423

Polymorphism and mutation databases

BioMutaiNNT
DMDMi51338801

Proteomic databases

EPDiQ13423
jPOSTiQ13423
MassIVEiQ13423
MaxQBiQ13423
PaxDbiQ13423
PeptideAtlasiQ13423
PRIDEiQ13423
ProteomicsDBi59408

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
23530

Genome annotation databases

EnsembliENST00000264663; ENSP00000264663; ENSG00000112992
ENST00000344920; ENSP00000343873; ENSG00000112992
ENST00000653251; ENSP00000499281; ENSG00000112992
ENST00000656666; ENSP00000499249; ENSG00000112992
ENST00000662525; ENSP00000499639; ENSG00000112992
ENST00000669601; ENSP00000499527; ENSG00000112992
ENST00000670904; ENSP00000499611; ENSG00000112992
ENST00000671668; ENSP00000499494; ENSG00000112992
GeneIDi23530
KEGGihsa:23530
UCSCiuc003joe.4 human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
23530
DisGeNETi23530

GeneCards: human genes, protein and diseases

More...
GeneCardsi
NNT
HGNCiHGNC:7863 NNT
HPAiCAB004975
HPA004829
MalaCardsiNNT
MIMi607878 gene
614736 phenotype
neXtProtiNX_Q13423
OpenTargetsiENSG00000112992
Orphaneti361 Familial glucocorticoid deficiency
PharmGKBiPA31667

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IEMU Eukaryota
COG1282 LUCA
COG3288 LUCA
GeneTreeiENSGT00390000004624
HOGENOMiHOG000160623
InParanoidiQ13423
KOiK00323
OMAiMSNAFTF
OrthoDBi220278at2759
PhylomeDBiQ13423
TreeFamiTF300636

Enzyme and pathway databases

BioCyciMetaCyc:HS03639-MONOMER
BRENDAi1.6.1.2 2681
ReactomeiR-HSA-71403 Citric acid cycle (TCA cycle)

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
NNT human
EvolutionaryTraceiQ13423

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
NNT_(gene)

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
23530
PharosiQ13423

Protein Ontology

More...
PROi
PR:Q13423

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000112992 Expressed in 221 organ(s), highest expression level in heart
ExpressionAtlasiQ13423 baseline and differential
GenevisibleiQ13423 HS

Family and domain databases

InterProiView protein in InterPro
IPR008143 Ala_DH/PNT_CS2
IPR008142 AlaDH/PNT_CS1
IPR007886 AlaDH/PNT_N
IPR007698 AlaDH/PNT_NAD(H)-bd
IPR029035 DHS-like_NAD/FAD-binding_dom
IPR036291 NAD(P)-bd_dom_sf
IPR026255 NADP_transhyd_a
IPR024605 NADP_transhyd_a_C
IPR034300 PNTB-like
PfamiView protein in Pfam
PF01262 AlaDh_PNT_C, 1 hit
PF05222 AlaDh_PNT_N, 1 hit
PF02233 PNTB, 1 hit
PF12769 PNTB_4TM, 1 hit
SMARTiView protein in SMART
SM01002 AlaDh_PNT_C, 1 hit
SM01003 AlaDh_PNT_N, 1 hit
SUPFAMiSSF51735 SSF51735, 1 hit
SSF52467 SSF52467, 1 hit
TIGRFAMsiTIGR00561 pntA, 1 hit
PROSITEiView protein in PROSITE
PS00836 ALADH_PNT_1, 1 hit
PS00837 ALADH_PNT_2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiNNTM_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q13423
Secondary accession number(s): Q16796, Q2TB60, Q8N3V4
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: August 16, 2004
Last modified: November 13, 2019
This is version 194 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
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