SLC25A21
entrez
89874
canonical
uniprot
Q9BQT8
canonical
ensembl
ENSG00000183032
resolver
ensp
ENSP00000329452
resolver
ensp
ENSP00000451873
resolver
genesymbol
SLC25A21
resolver
genesymbol_syn
ODC
resolver
hgnc
HGNC:14411
resolver
uniprot
A8K0L0
resolver
uniprot
G3V4L5
resolver
uniprot
Q3MJ99
resolver
uniprot_entry
ODC_HUMAN
resolver
uniprot_sec
A8K0L0
resolver
uniprot_sec
G3V4L5
resolver
uniprot_sec
Q3MJ99
resolver
amino_acid_sequence
MSAKPEVSLVREASRQIVAGGSAGLVEICLMHPLDVVKTRFQIQRCATDPNSYKSLVDSFRMIFQMEGLFGFYKGILPPILAETPKRAVKFFTFEQYKKLLGYVSLSPALTFAIAGLGSGLTEAIVVNPFEVVKVGLQANRNTFAEQPSTVGYARQIIKKEGWGLQGLNKGLTATLGRHGVFNMVYFGFYYNVKNMIPVNKDPILEFWRKFGIGLLSGTIASVINIPFDVAKSRIQGPQPVPGEIKYRTCFKTMATVYQEEGILALYKGLLPKIMRLGPGGAVMLLVYEYTYSWLQENW
uniprot
proteins
disease_involvement
DISEASE: Mitochondrial DNA depletion syndrome 18 (MTDPS18) [MIM:618811]: An autosomal recessive mitochondrial disorder characterized by early-onset progressive weakness and atrophy of the distal limb muscles, loss of ambulation, and atrophy of the intrinsic hand muscles with clawed hands. Additional features include scoliosis, hypo- or hyperreflexia, and decreased pulmonary vital capacity. Examination of skeletal muscle shows mitochondrial respiratory chain deficiencies involving complexes I and IV, associated with mtDNA depletion. {ECO:0000269|PubMed:29517768}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Transports dicarboxylates across the inner membranes of mitochondria by a counter-exchange mechanism (PubMed:11083877). Can transport 2-oxoadipate (2-oxohexanedioate), 2-oxoglutarate, adipate (hexanedioate), glutarate, and to a lesser extent, pimelate (heptanedioate), 2-oxopimelate (2-oxoheptanedioate), 2-aminoadipate (2-aminohexanedioate), oxaloacetate, and citrate (PubMed:11083877). Plays a central role in catabolism of lysine, hydroxylysine, and tryptophan, by transporting common metabolite intermediates (such as 2-oxoadipate) into the mitochondria, where it is converted into acetyl-CoA and can enter the citric acid (TCA) cycle (Probable). {ECO:0000269|PubMed:11083877, ECO:0000305|PubMed:11083877, ECO:0000305|PubMed:29517768}.
uniprot
proteins
mass_dalton
33303
uniprot
proteins
protein_family
Mitochondrial carrier (TC 2.A.29) family
uniprot
proteins
pubmed
11083877
uniprot
proteins
pubmed
12508121
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
29517768
uniprot
proteins
sequence_length
299
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion inner membrane; Multi-pass membrane protein.
uniprot
proteins
transmembrane_region
TRANSMEM 17..37; /note="Helical; Name=1"; /evidence="ECO:0000255"; TRANSMEM 70..89; /note="Helical; Name=2"; /evidence="ECO:0000255"; TRANSMEM 113..133; /note="Helical; Name=3"; /evidence="ECO:0000255"; TRANSMEM 167..187; /note="Helical; Name=4"; /evidence="ECO:0000255"; TRANSMEM 205..225; /note="Helical; Name=5"; /evidence="ECO:0000255"; TRANSMEM 277..297; /note="Helical; Name=6"; /evidence="ECO:0000255
uniprot
proteins