• Gene id: 23530

Gene Summary

• Gene Symbol: NNT   Gene   UCSC   Ensembl
• Aliases: GCCD4
• Gene name: nicotinamide nucleotide transhydrogenase
• Alternate names: NAD(P) transhydrogenase, mitochondrial, pyridine nucleotide transhydrogenase,
• Gene location: 5p12 (50565459: 50458435)     Exons: 18     NC_000007.14
• Gene summary(Entrez): 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
• OMIM: 607878

SNPs

rs886039789

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000005.10   g.43615851C>G
NC_000005.10   g.43615851C>T
NC_000005.9   g.43615953C>G
NC_000005.9   g.43615953C>T
NG_032869.1   g.18163C>G
NG_032869.1   g.18163C>T
NM_182977.3   c.385C>G
NM_182977.3   c.385C>T
NM_182977.2   c.385C>G
NM_182977.2   c.385C>T
NM_012343.3   c.

Protein Summary

• Protein general information: Q13423  
  • Name: NAD(P) transhydrogenase, mitochondrial (EC 7.1.1.1) (Nicotinamide nucleotide transhydrogenase) (Pyridine nucleotide transhydrogenase)
  • Length: 1086  
  • Mass: 113896
  • Tissue specificity: Widely expressed with expression most readily detectable in adrenal, heart, kidney, thyroid and adipose tissues. {ECO
• Sequence:

  MANLLKTVVTGCSCPLLSNLGSCKGLRVKKDFLRTFYTHQELWCKAPVKPGIPYKQLTVGVPKEIFQNEKRVALS
  PAGVQNLVKQGFNVVVESGAGEASKFSDDHYRVAGAQIQGAKEVLASDLVVKVRAPMVNPTLGVHEADLLKTSGT
  LISFIYPAQNPELLNKLSQRKTTVLAMDQVPRVTIAQGYDALSSMANIAGYKAVVLAANHFGRFFTGQITAAGKV
  PPAKILIVGGGVAGLASAGAAKSMGAIVRGFDTRAAALEQFKSLGAEPLEVDLKESGEGQGGYAKEMSKEFIEAE
  MKLFAQQCKEVDILISTALIPGKKAPVLFNKEMIESMKEGSVVVDLAAEAGGNFETTKPGELYIHKGITHIGYTD
  LPSRMATQASTLYSNNITKLLKAISPDKDNFYFDVKDDFDFGTMGHVIRGTVVMKDGKVIFPAPTPKNIPQGAPV
  KQKTVAELEAEKAATITPFRKTMSTASAYTAGLTGILGLGIAAPNLAFSQMVTTFGLAGIVGYHTVWGVTPALHS
  PLMSVTNAISGLTAVGGLALMGGHLYPSTTSQGLAALAAFISSVNIAGGFLVTQRMLDMFKRPTDPPEYNYLYLL
  PAGTFVGGYLAALYSGYNIEQIMYLGSGLCCVGALAGLSTQGTARLGNALGMIGVAGGLAATLGVLKPGPELLAQ
  MSGAMALGGTIGLTIAKRIQISDLPQLVAAFHSLVGLAAVLTCIAEYIIEYPHFATDAAANLTKIVAYLGTYIGG
  VTFSGSLIAYGKLQGLLKSAPLLLPGRHLLNAGLLAASVGGIIPFMVDPSFTTGITCLGSVSALSAVMGVTLTAA
  IGGADMPVVITVLNSYSGWALCAEGFLLNNNLLTIVGALIGSSGAILSYIMCVAMNRSLANVILGGYGTTSTAGG
  KPMEISGTHTEINLDNAIDMIREANSIIITPGYGLCAAKAQYPIADLVKMLTEQGKKVRFGIHPVAGRMPGQLNV
  LLAEAGVPYDIVLEMDEINHDFPDTDLVLVIGANDTVNSAAQEDPNSIIAGMPVLEVWKSKQVIVMKRSLGVGYA
  AVDNPIFYKPNTAMLLGDAKKTCDALQAKVRESYQK

• Structural information:
  • Interpro: IPR008143  IPR008142  IPR007886  IPR007698  IPR029035   IPR036291  IPR026255  IPR024605  IPR034300  
  • Prosite: PS00836 PS00837
  • PDB: 1DJL 1PT9 1U31
  • PDBsum: 1DJL 1PT9 1U31
  • STRING: ENSP00000264663
• Other Databases: GeneCards:  NNT  Malacards:  NNT

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006740	NADPH regeneration	IBA	biological process
GO:0050661	NADP binding	IBA	molecular function
GO:0005739	mitochondrion	IBA	cellular component
GO:0008746	NAD(P)+ transhydrogenase activity	IBA	molecular function
GO:0051287	NAD binding	IBA	molecular function
GO:0072593	reactive oxygen species metabolic process	IMP	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:1902600	proton transmembrane transport	IEA	biological process
GO:0008746	NAD(P)+ transhydrogenase activity	IEA	molecular function
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0006099	tricarboxylic acid cycle	TAS	biological process
GO:0005739	mitochondrion	IDA	cellular component
GO:1903285	positive regulation of hydrogen peroxide catabolic process	IEA	biological process
GO:0043066	negative regulation of apoptotic process	IEA	biological process
GO:0033273	response to vitamin	IEA	biological process
GO:0006740	NADPH regeneration	IEA	biological process
GO:0001933	negative regulation of protein phosphorylation	IEA	biological process
GO:0098869	cellular oxidant detoxification	IEA	biological process
GO:0045454	cell redox homeostasis	IEA	biological process
GO:0032364	oxygen homeostasis	IEA	biological process
GO:0010918	positive regulation of mitochondrial membrane potential	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0050661	NADP binding	IDA	molecular function
GO:0006099	tricarboxylic acid cycle	TAS	biological process
GO:0005746	mitochondrial respirasome	TAS	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0055114	oxidation-reduction process	TAS	biological process
GO:1902600	proton transmembrane transport	TAS	biological process
GO:0003957	NAD(P)+ transhydrogenase (B-specific) activity	TAS	molecular function
GO:0051287	NAD binding	TAS	molecular function
GO:0005743	mitochondrial inner membrane	TAS	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00760	Nicotinate and nicotinamide metabolism

Diseases

Associated diseases	References
Familial glucocorticoid deficiency	KEGG:H00256
Familial glucocorticoid deficiency	KEGG:H00256
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq