ND4L
entrez
4539
canonical
uniprot
P03901
canonical
ensembl
ENSG00000212907
resolver
ensp
ENSP00000354728
resolver
enst
ENST00000361335
resolver
genesymbol
MT-ND4L
resolver
genesymbol
ND4L
resolver
genesymbol_syn
MTND4L
resolver
genesymbol_syn
NADH4L
resolver
genesymbol_syn
ND4L
resolver
hgnc
HGNC:7460
resolver
uniprot
A0A1X7RC16
resolver
uniprot
E2DF98
resolver
uniprot
Q7GXZ4
resolver
uniprot
Q85KV3
resolver
uniprot
Q85KY5
resolver
uniprot_entry
NU4LM_HUMAN
resolver
uniprot_entry
Q7GXZ4_HUMAN
resolver
uniprot_sec
A0A1X7RC16
resolver
uniprot_sec
E2DF98
resolver
uniprot_sec
Q85KV3
resolver
uniprot_sec
Q85KY5
resolver
amino_acid_sequence
MPLIYMNIMLAFTISLLGMLVYRSHLMSSLLCLEGMMLSLFIMATLMTLNTHSLLANIVPIAMLVFAACEAAVGLALLVSISNTYGLDYVHNLNLLQC
uniprot
proteins
disease_involvement
DISEASE: Leber hereditary optic neuropathy (LHON) [MIM:535000]: A maternally inherited form of Leber hereditary optic neuropathy, a mitochondrial disease resulting in bilateral painless loss of central vision due to selective degeneration of the retinal ganglion cells and their axons. The disorder shows incomplete penetrance and male predominance. Cardiac conduction defects and neurological defects have also been described in some LHON patients. LHON results from primary mitochondrial DNA mutations affecting the respiratory chain complexes. {ECO:0000269|PubMed:8680405}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
7.1.1.2
uniprot
proteins
function
FUNCTION: Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which catalyzes electron transfer from NADH through the respiratory chain, using ubiquinone as an electron acceptor (PubMed:28844695). Part of the enzyme membrane arm which is embedded in the lipid bilayer and involved in proton translocation (PubMed:28844695). {ECO:0000269|PubMed:28844695}.
uniprot
proteins
mass_dalton
10741
uniprot
proteins
protein_family
Complex I subunit 4L family
uniprot
proteins
pubmed
11130070
uniprot
proteins
pubmed
12840039
uniprot
proteins
pubmed
12949126
uniprot
proteins
pubmed
14760490
uniprot
proteins
pubmed
1757091
uniprot
proteins
pubmed
28844695
uniprot
proteins
pubmed
3921850
uniprot
proteins
pubmed
7219534
uniprot
proteins
pubmed
7530363
uniprot
proteins
pubmed
8680405
uniprot
proteins
pubmed
8919866
uniprot
proteins
pubmed
9806551
uniprot
proteins
sequence_length
98
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000250|UniProtKB:P03902}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 1..21; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 29..49; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 58..78; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins