Gene Gene information from NCBI Gene database.
Entrez ID 23530
Gene name Nicotinamide nucleotide transhydrogenase
Gene symbol NNT
Synonyms (NCBI Gene)
GCCD4
Chromosome 5
Chromosome location 5p12
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
SNPs SNP information provided by dbSNP.
13
SNP ID Visualize variation Clinical significance Consequence
rs370273690 T>C,G Pathogenic Missense variant, coding sequence variant, synonymous variant
rs387907232 C>T Pathogenic Coding sequence variant, missense variant
rs387907233 T>C Pathogenic Coding sequence variant, missense variant
rs387907234 G>C Pathogenic Coding sequence variant, missense variant
rs786205344 G>- Pathogenic Genic upstream transcript variant, splice acceptor variant
miRNA miRNA information provided by mirtarbase database.
507
miRTarBase ID miRNA Experiments Reference
MIRT016790 hsa-miR-335-5p Microarray 18185580
MIRT025238 hsa-miR-34a-5p Proteomics 21566225
MIRT048367 hsa-miR-29b-3p CLASH 23622248
MIRT046012 hsa-miR-125b-5p CLASH 23622248
MIRT045755 hsa-miR-125a-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
28
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0003957 Function NAD(P)+ transhydrogenase (Si-specific) activity TAS 9524818
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IDA
GO:0005739 Component Mitochondrion IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
607878 7863 ENSG00000112992
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q13423
Protein name NAD(P) transhydrogenase, mitochondrial (EC 7.1.1.1) (Nicotinamide nucleotide transhydrogenase) (Pyridine nucleotide transhydrogenase)
Protein function 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 (P
PDB 1DJL , 1PT9 , 1U31
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05222 AlaDh_PNT_N 60 199 Alanine dehydrogenase/PNT, N-terminal domain Domain
PF01262 AlaDh_PNT_C 203 437 Alanine dehydrogenase/PNT, C-terminal domain Domain
PF12769 PNTB_4TM 501 587 4TM region of pyridine nucleotide transhydrogenase, mitoch Family
PF02233 PNTB 620 1079 NAD(P) transhydrogenase beta subunit Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed with expression most readily detectable in adrenal, heart, kidney, thyroid and adipose tissues. {ECO:0000269|PubMed:22634753}.
Sequence
MANLLKTVVTGCSCPLLSNLGSCKGLRVKKDFLRTFYTHQELWCKAPVKPGIPYKQLTVG
VPKEIFQNEKRVALSPAGVQNLVKQGFNVVVESGAGEASKFSDDHYRVAGAQIQGAKEVL
ASDLVVKVRAPMVNPTLGVHEADLLKTSGTLISFIYPAQNPELLNKLSQRKTTVLAMDQV
PRVTIAQGYDALSSMANIA
GYKAVVLAANHFGRFFTGQITAAGKVPPAKILIVGGGVAGL
ASAGAAKSMGAIVRGFDTRAAALEQFKSLGAEPLEVDLKESGEGQGGYAKEMSKEFIEAE
MKLFAQQCKEVDILISTALIPGKKAPVLFNKEMIESMKEGSVVVDLAAEAGGNFETTKPG
ELYIHKGITHIGYTDLPSRMATQASTLYSNNITKLLKAISPDKDNFYFDVKDDFDFGTMG
HVIRGTVVMKDGKVIFP
APTPKNIPQGAPVKQKTVAELEAEKAATITPFRKTMSTASAYT
AGLTGILGLGIAAPNLAFSQMVTTFGLAGIVGYHTVWGVTPALHSPLMSVTNAISGLTAV
GGLALMGGHLYPSTTSQGLAALAAFISSVNIAGGFLVTQRMLDMFKR
PTDPPEYNYLYLL
PAGTFVGGYLAALYSGYNIEQIMYLGSGLCCVGALAGLSTQGTARLGNALGMIGVAGGLA
ATLGVLKPGPELLAQMSGAMALGGTIGLTIAKRIQISDLPQLVAAFHSLVGLAAVLTCIA
EYIIEYPHFATDAAANLTKIVAYLGTYIGGVTFSGSLIAYGKLQGLLKSAPLLLPGRHLL
NAGLLAASVGGIIPFMVDPSFTTGITCLGSVSALSAVMGVTLTAAIGGADMPVVITVLNS
YSGWALCAEGFLLNNNLLTIVGALIGSSGAILSYIMCVAMNRSLANVILGGYGTTSTAGG
KPMEISGTHTEINLDNAIDMIREANSIIITPGYGLCAAKAQYPIADLVKMLTEQGKKVRF
GIHPVAGRMPGQLNVLLAEAGVPYDIVLEMDEINHDFPDTDLVLVIGANDTVNSAAQEDP
NSIIAGMPVLEVWKSKQVIVMKRSLGVGYAAVDNPIFYKPNTAMLLGDAKKTCDALQAK
V
RESYQK
Sequence length 1086
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Nicotinate and nicotinamide metabolism
Metabolic pathways
  Citric acid cycle (TCA cycle)
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
58
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Glucocorticoid deficiency 4 Pathogenic; Likely pathogenic rs2111935997, rs2478489596, rs1437719035, rs864309519, rs886039786, rs886039788, rs886039789, rs886039790, rs2478488956, rs387907232, rs786205344, rs387907233, rs786205345, rs370273690, rs387907234
View all (2 more)
RCV001449919
RCV002283609
RCV002283833
RCV000202606
RCV000256214
RCV001254595
RCV000256222
RCV000256229
RCV004545904
RCV000029193
RCV000029194
RCV000029195
RCV000029196
RCV000029197
RCV000029198
RCV000985151
RCV001196318
GLUCOCORTICOID DEFICIENCY 4 WITH MINERALOCORTICOID DEFICIENCY Pathogenic; Likely pathogenic rs886039787, rs886039788 RCV000256221
RCV000256216
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs114002702 RCV005907175
Familial cancer of breast Benign rs114002702 RCV005907174
Gastric cancer Benign rs34241095 RCV005907149
Malignant tumor of esophagus Benign rs34241095 RCV005907148
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Addison Disease Associate 27129361, 34193132, 35627102
Adrenal Insufficiency Associate 27129361
Alzheimer Disease Associate 29186589
Bone Diseases Metabolic Associate 35627102
Breast Neoplasms Associate 32190687
Carcinoma Renal Cell Associate 38036719
Cardiomyopathy Hypertrophic Associate 27129361
Cognition Disorders Associate 29186589
Congenital Hypothyroidism Associate 27129361
Cryptorchidism Associate 27129361