NIT1
entrez
4817
canonical
uniprot
Q86X76
canonical
ensembl
ENSG00000158793
resolver
ensp
ENSP00000356986
resolver
ensp
ENSP00000356987
resolver
ensp
ENSP00000356988
resolver
ensp
ENSP00000376028
resolver
genesymbol
NIT1
resolver
hgnc
HGNC:7828
resolver
uniprot
B1AQP3
resolver
uniprot
B7Z410
resolver
uniprot
D3DVF4
resolver
uniprot
O76091
resolver
uniprot_entry
B7Z410_HUMAN
resolver
uniprot_entry
NIT1_HUMAN
resolver
uniprot_sec
B1AQP3
resolver
uniprot_sec
D3DVF4
resolver
uniprot_sec
O76091
resolver
amino_acid_sequence
MLGFITRPPHRFLSLLCPGLRIPQLSVLCAQPRPRAMAISSSSCELPLVAVCQVTSTPDKQQNFKTCAELVREAARLGACLAFLPEAFDFIARDPAETLHLSEPLGGKLLEEYTQLARECGLWLSLGGFHERGQDWEQTQKIYNCHVLLNSKGAVVATYRKTHLCDVEIPGQGPMCESNSTMPGPSLESPVSTPAGKIGLAVCYDMRFPELSLALAQAGAEILTYPSAFGSITGPAHWEVLLRARAIETQCYVVAAAQCGRHHEKRASYGHSMVVDPWGTVVARCSEGPGLCLARIDLNYLRQLRRHLPVFQHRRPDLYGNLGHPLS
uniprot
proteins
disease_involvement
DISEASE: Brain small vessel disease 4 (BSVD4) [MIM:621313]: An autosomal recessive, adult-onset form of brain small vessel disease, a cerebrovascular disorder with variable manifestations reflecting the location and severity of the vascular defect. BSVD4 patients manifest neurologic symptoms and deficits due to ischemic and/or hemorrhagic events in the brain. Clinical features include progressive movement disorders, such as dystonia, chorea, bradykinesia, tremor as well as gait disturbance and dysarthria, and cognitive decline. Some patients may have psychiatric features. Neuroimaging shows dilated perivascular spaces and cavitating lesions, especially prominent in the basal ganglia and thalamus. {ECO:0000269|PubMed:31705625, ECO:0000269|PubMed:38430071}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.5.1.128
uniprot
proteins
function
FUNCTION: Catalyzes the hydrolysis of the amide bond in N-(4-oxoglutarate)-L-cysteinylglycine (deaminated glutathione), a metabolite repair reaction to dispose of the harmful deaminated glutathione (PubMed:38430071). Plays a role in cell growth and apoptosis: loss of expression promotes cell growth, resistance to DNA damage stress and increased incidence to NMBA-induced tumors. Has tumor suppressor properties that enhances the apoptotic responsiveness in cancer cells; this effect is additive to the tumor suppressor activity of FHIT. It is also a negative regulator of primary T-cells. {ECO:0000269|PubMed:38430071}.
uniprot
proteins
mass_dalton
35896
uniprot
proteins
protein_family
Carbon-nitrogen hydrolase superfamily
uniprot
proteins
protein_family
NIT1/NIT2 family
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
31705625
uniprot
proteins
pubmed
38430071
uniprot
proteins
pubmed
9671749
uniprot
proteins
sequence_length
327
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: [Isoform 2]: Mitochondrion {ECO:0000250|UniProtKB:Q8VDK1}.; SUBCELLULAR LOCATION: [Isoform 1]: Cytoplasm {ECO:0000250|UniProtKB:Q8VDK1}.
uniprot
proteins