NNT
entrez
23530
canonical
uniprot
Q13423
canonical
ensembl
ENSG00000112992
resolver
ensp
ENSP00000264663
resolver
ensp
ENSP00000343873
resolver
ensp
ENSP00000426343
resolver
ensp
ENSP00000499249
resolver
ensp
ENSP00000499281
resolver
ensp
ENSP00000499494
resolver
ensp
ENSP00000499527
resolver
ensp
ENSP00000499611
resolver
ensp
ENSP00000499639
resolver
ensp
ENSP00000541319
resolver
ensp
ENSP00000541323
resolver
ensp
ENSP00000634799
resolver
ensp
ENSP00000634800
resolver
ensp
ENSP00000634805
resolver
ensp
ENSP00000634807
resolver
ensp
ENSP00000634808
resolver
enst
ENST00000264663
resolver
enst
ENST00000344920
resolver
enst
ENST00000512996
resolver
enst
ENST00000653251
resolver
enst
ENST00000656666
resolver
enst
ENST00000662525
resolver
enst
ENST00000669601
resolver
enst
ENST00000670904
resolver
enst
ENST00000671668
resolver
enst
ENST00000871260
resolver
enst
ENST00000871264
resolver
enst
ENST00000964740
resolver
enst
ENST00000964741
resolver
enst
ENST00000964746
resolver
enst
ENST00000964748
resolver
enst
ENST00000964749
resolver
genesymbol
NNT
resolver
hgnc
HGNC:7863
resolver
uniprot
E9PCX7
resolver
uniprot
Q16796
resolver
uniprot
Q2TB60
resolver
uniprot
Q8N3V4
resolver
uniprot_entry
E9PCX7_HUMAN
resolver
uniprot_entry
NNTM_HUMAN
resolver
uniprot_sec
Q16796
resolver
uniprot_sec
Q2TB60
resolver
uniprot_sec
Q8N3V4
resolver
amino_acid_sequence
MANLLKTVVTGCSCPLLSNLGSCKGLRVKKDFLRTFYTHQELWCKAPVKPGIPYKQLTVGVPKEIFQNEKRVALSPAGVQNLVKQGFNVVVESGAGEASKFSDDHYRVAGAQIQGAKEVLASDLVVKVRAPMVNPTLGVHEADLLKTSGTLISFIYPAQNPELLNKLSQRKTTVLAMDQVPRVTIAQGYDALSSMANIAGYKAVVLAANHFGRFFTGQITAAGKVPPAKILIVGGGVAGLASAGAAKSMGAIVRGFDTRAAALEQFKSLGAEPLEVDLKESGEGQGGYAKEMSKEFIEAEMKLFAQQCKEVDILISTALIPGKKAPVLFNKEMIESMKEGSVVVDLAAEAGGNFETTKPGELYIHKGITHIGYTDLPSRMATQASTLYSNNITKLLKAISPDKDNFYFDVKDDFDFGTMGHVIRGTVVMKDGKVIFPAPTPKNIPQGAPVKQKTVAELEAEKAATITPFRKTMSTASAYTAGLTGILGLGIAAPNLAFSQMVTTFGLAGIVGYHTVWGVTPALHSPLMSVTNAISGLTAVGGLALMGGHLYPSTTSQGLAALAAFISSVNIAGGFLVTQRMLDMFKRPTDPPEYNYLYLLPAGTFVGGYLAALYSGYNIEQIMYLGSGLCCVGALAGLSTQGTARLGNALGMIGVAGGLAATLGVLKPGPELLAQMSGAMALGGTIGLTIAKRIQISDLPQLVAAFHSLVGLAAVLTCIAEYIIEYPHFATDAAANLTKIVAYLGTYIGGVTFSGSLIAYGKLQGLLKSAPLLLPGRHLLNAGLLAASVGGIIPFMVDPSFTTGITCLGSVSALSAVMGVTLTAAIGGADMPVVITVLNSYSGWALCAEGFLLNNNLLTIVGALIGSSGAILSYIMCVAMNRSLANVILGGYGTTSTAGGKPMEISGTHTEINLDNAIDMIREANSIIITPGYGLCAAKAQYPIADLVKMLTEQGKKVRFGIHPVAGRMPGQLNVLLAEAGVPYDIVLEMDEINHDFPDTDLVLVIGANDTVNSAAQEDPNSIIAGMPVLEVWKSKQVIVMKRSLGVGYAAVDNPIFYKPNTAMLLGDAKKTCDALQAKVRESYQK
uniprot
proteins
disease_involvement
DISEASE: Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency (GCCD4) [MIM:614736]: A 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. {ECO:0000269|PubMed:22634753}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
7.1.1.1
uniprot
proteins
function
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 (PubMed:22634753). {ECO:0000250|UniProtKB:P07001, ECO:0000269|PubMed:22634753}.
uniprot
proteins
mass_dalton
113896
uniprot
proteins
protein_family
AlaDH/PNT family; PNT beta subunit family
uniprot
proteins
pubmed
10673423
uniprot
proteins
pubmed
12791694
uniprot
proteins
pubmed
15323555
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22634753
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
8616157
uniprot
proteins
pubmed
9524818
uniprot
proteins
sequence_length
1086
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}; Matrix side {ECO:0000305}.
uniprot
proteins
transmembrane_region
TRANSMEM 475..493; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 501..521; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 527..546; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 558..578; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 596..616; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 622..642; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 646..666; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 672..691; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 702..722; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 740..760; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 778..797; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 801..819; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 833..853; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 857..879; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins