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NNT nicotinamide nucleotide transhydrogenase [ Homo sapiens (human) ]

Gene ID: 23530, updated on 11-Nov-2018

Summary

Official Symbol
NNTprovided by HGNC
Official Full Name
nicotinamide nucleotide transhydrogenaseprovided by HGNC
Primary source
HGNC:HGNC:7863
See related
Ensembl:ENSG00000112992 MIM:607878; Vega:OTTHUMG00000096961
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
GCCD4
Summary
This gene encodes an integral protein of the inner mitochondrial membrane. The enzyme couples hydride transfer between NAD(H) and NADP(+) to proton translocation across the inner mitochondrial membrane. Under most physiological conditions, the enzyme uses energy from the mitochondrial proton gradient to produce high concentrations of NADPH. The resulting NADPH is used for biosynthesis and in free radical detoxification. [provided by RefSeq, Sep 2016]
Expression
Broad expression in heart (RPKM 59.4), liver (RPKM 33.2) and 24 other tissues See more
Orthologs

Genomic context

See NNT in Genome Data Viewer
Location:
5p12
Exon count:
26
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 5 NC_000005.10 (43601092..43705566)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (43602791..43705668)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene poly(A) binding protein interacting protein 1 Neighboring gene NNT antisense RNA 1 Neighboring gene adenosylmethionine decarboxylase 1 pseudogene 3 Neighboring gene ribosomal protein L29 pseudogene 12 Neighboring gene RNA, U6 small nuclear 381, pseudogene Neighboring gene fibroblast growth factor 10 Neighboring gene FGF10 intronic enhancer

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC126502, MGC126503

Gene Ontology Provided by GOA

Function Evidence Code Pubs
NAD binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
NAD binding TAS
Traceable Author Statement
more info
PubMed 
NAD(P)+ transhydrogenase (B-specific) activity TAS
Traceable Author Statement
more info
PubMed 
NAD(P)+ transhydrogenase activity EXP
Inferred from Experiment
more info
PubMed 
NAD(P)+ transhydrogenase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
NADP binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
NADP binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
NADPH regeneration IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell redox homeostasis IEA
Inferred from Electronic Annotation
more info
 
cellular oxidant detoxification IEA
Inferred from Electronic Annotation
more info
 
negative regulation of apoptotic process IEA
Inferred from Electronic Annotation
more info
 
negative regulation of protein phosphorylation IEA
Inferred from Electronic Annotation
more info
 
oxidation-reduction process TAS
Traceable Author Statement
more info
PubMed 
oxygen homeostasis IEA
Inferred from Electronic Annotation
more info
 
positive regulation of hydrogen peroxide catabolic process IEA
Inferred from Electronic Annotation
more info
 
positive regulation of mitochondrial membrane potential IEA
Inferred from Electronic Annotation
more info
 
proton transmembrane transport TAS
Traceable Author Statement
more info
PubMed 
reactive oxygen species metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
response to vitamin IEA
Inferred from Electronic Annotation
more info
 
tricarboxylic acid cycle TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
membrane HDA PubMed 
mitochondrial inner membrane TAS
Traceable Author Statement
more info
PubMed 
mitochondrial respiratory chain TAS
Traceable Author Statement
more info
PubMed 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
NAD(P) transhydrogenase, mitochondrial
Names
pyridine nucleotide transhydrogenase
NP_001317955.1
NP_036475.3
NP_892022.2
XP_005248331.1
XP_005248332.1
XP_006714524.1
XP_011512303.1
XP_016864782.1
XP_024301777.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_032869.1 RefSeqGene

    Range
    5001..107878
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001331026.1NP_001317955.1  NAD(P) transhydrogenase, mitochondrial isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and uses a downstream in-frame start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AC010435
    Consensus CDS
    CCDS82994.1
    UniProtKB/TrEMBL
    E9PCX7
    Conserved Domains (3) summary
    cd05304
    Location:2301
    Rubrum_tdh; Rubrum transdehydrogenase NAD-binding and catalytic domains
    pfam02233
    Location:491948
    PNTB; NAD(P) transhydrogenase beta subunit
    pfam12769
    Location:371456
    PNTB_4TM; 4TM region of pyridine nucleotide transhydrogenase, mitoch
  2. NM_012343.3NP_036475.3  NAD(P) transhydrogenase, mitochondrial isoform 1

    See identical proteins and their annotated locations for NP_036475.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1). Variants 1 and 2 encode the same isoform.
    Source sequence(s)
    AC010435, AL831822, AW771969, BC110543, DA521839
    Consensus CDS
    CCDS3949.1
    UniProtKB/Swiss-Prot
    Q13423
    UniProtKB/TrEMBL
    A0A024R0C3
    Related
    ENSP00000264663.5, OTTHUMP00000122432, ENST00000264663.9, OTTHUMT00000214026
    Conserved Domains (4) summary
    PRK09424
    Location:57587
    pntA; NAD(P) transhydrogenase subunit alpha; Provisional
    cd05304
    Location:57432
    Rubrum_tdh; Rubrum transdehydrogenase NAD-binding and catalytic domains
    pfam02233
    Location:6221079
    PNTB; NAD(P) transhydrogenase beta subunit
    pfam12769
    Location:502587
    PNTB_4TM; 4TM region of pyridine nucleotide transhydrogenase, mitoch
  3. NM_182977.2NP_892022.2  NAD(P) transhydrogenase, mitochondrial isoform 1

    See identical proteins and their annotated locations for NP_892022.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same isoform (1).
    Source sequence(s)
    AC010435, AW771969, BC110543, BU429380
    Consensus CDS
    CCDS3949.1
    UniProtKB/Swiss-Prot
    Q13423
    UniProtKB/TrEMBL
    A0A024R0C3
    Related
    ENSP00000343873.4, OTTHUMP00000122433, ENST00000344920.8, OTTHUMT00000214027
    Conserved Domains (4) summary
    PRK09424
    Location:57587
    pntA; NAD(P) transhydrogenase subunit alpha; Provisional
    cd05304
    Location:57432
    Rubrum_tdh; Rubrum transdehydrogenase NAD-binding and catalytic domains
    pfam02233
    Location:6221079
    PNTB; NAD(P) transhydrogenase beta subunit
    pfam12769
    Location:502587
    PNTB_4TM; 4TM region of pyridine nucleotide transhydrogenase, mitoch

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p12 Primary Assembly

    Range
    43601092..43705566
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017009293.2XP_016864782.1  NAD(P) transhydrogenase, mitochondrial isoform X1

    UniProtKB/Swiss-Prot
    Q13423
    UniProtKB/TrEMBL
    A0A024R0C3
    Conserved Domains (4) summary
    PRK09424
    Location:57587
    pntA; NAD(P) transhydrogenase subunit alpha; Provisional
    cd05304
    Location:57432
    Rubrum_tdh; Rubrum transdehydrogenase NAD-binding and catalytic domains
    pfam02233
    Location:6221079
    PNTB; NAD(P) transhydrogenase beta subunit
    pfam12769
    Location:502587
    PNTB_4TM; 4TM region of pyridine nucleotide transhydrogenase, mitoch
  2. XM_005248274.5XP_005248331.1  NAD(P) transhydrogenase, mitochondrial isoform X1

    See identical proteins and their annotated locations for XP_005248331.1

    UniProtKB/Swiss-Prot
    Q13423
    UniProtKB/TrEMBL
    A0A024R0C3
    Conserved Domains (4) summary
    PRK09424
    Location:57587
    pntA; NAD(P) transhydrogenase subunit alpha; Provisional
    cd05304
    Location:57432
    Rubrum_tdh; Rubrum transdehydrogenase NAD-binding and catalytic domains
    pfam02233
    Location:6221079
    PNTB; NAD(P) transhydrogenase beta subunit
    pfam12769
    Location:502587
    PNTB_4TM; 4TM region of pyridine nucleotide transhydrogenase, mitoch
  3. XM_024446009.1XP_024301777.1  NAD(P) transhydrogenase, mitochondrial isoform X3

    Conserved Domains (2) summary
    pfam02233
    Location:122579
    PNTB; NAD(P) transhydrogenase beta subunit
    pfam12769
    Location:287
    PNTB_4TM; 4TM region of pyridine nucleotide transhydrogenase, mitoch
  4. XM_011514001.3XP_011512303.1  NAD(P) transhydrogenase, mitochondrial isoform X1

    See identical proteins and their annotated locations for XP_011512303.1

    UniProtKB/Swiss-Prot
    Q13423
    UniProtKB/TrEMBL
    A0A024R0C3
    Conserved Domains (4) summary
    PRK09424
    Location:57587
    pntA; NAD(P) transhydrogenase subunit alpha; Provisional
    cd05304
    Location:57432
    Rubrum_tdh; Rubrum transdehydrogenase NAD-binding and catalytic domains
    pfam02233
    Location:6221079
    PNTB; NAD(P) transhydrogenase beta subunit
    pfam12769
    Location:502587
    PNTB_4TM; 4TM region of pyridine nucleotide transhydrogenase, mitoch
  5. XM_006714461.4XP_006714524.1  NAD(P) transhydrogenase, mitochondrial isoform X2

    See identical proteins and their annotated locations for XP_006714524.1

    UniProtKB/TrEMBL
    E9PCX7
    Related
    ENSP00000426343.1, OTTHUMP00000221608, ENST00000512996.6
    Conserved Domains (3) summary
    cd05304
    Location:2301
    Rubrum_tdh; Rubrum transdehydrogenase NAD-binding and catalytic domains
    pfam02233
    Location:491948
    PNTB; NAD(P) transhydrogenase beta subunit
    pfam12769
    Location:371456
    PNTB_4TM; 4TM region of pyridine nucleotide transhydrogenase, mitoch
  6. XM_005248275.5XP_005248332.1  NAD(P) transhydrogenase, mitochondrial isoform X3

    Conserved Domains (2) summary
    pfam02233
    Location:122579
    PNTB; NAD(P) transhydrogenase beta subunit
    pfam12769
    Location:287
    PNTB_4TM; 4TM region of pyridine nucleotide transhydrogenase, mitoch
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