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    NNT nicotinamide nucleotide transhydrogenase [ Homo sapiens (human) ]

    Gene ID: 23530, updated on 17-Jun-2019

    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
    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
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (43601092..43707396)
    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 Sharpr-MPRA regulatory region 11344 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 Apr 4 07:08:55 2018

    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 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_001331026.2NP_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_012343.4NP_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, ENST00000264663.9
      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_182977.3NP_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, ENST00000344920.9
      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

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

      Range
      43601092..43707396
      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, 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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