SLC25A48
entrez
153328
canonical
uniprot
Q6ZT89
canonical
ensembl
ENSG00000145832
resolver
ensp
ENSP00000413049
resolver
ensp
ENSP00000493514
resolver
ensp
ENSP00000506858
resolver
ensp
ENSP00000538102
resolver
ensp
ENSP00000589173
resolver
ensp
ENSP00000674529
resolver
ensp
ENSP00000674531
resolver
ensp
ENSP00000674532
resolver
ensp
ENSP00000674533
resolver
ensp
ENSP00000725497
resolver
ensp
ENSP00000771675
resolver
ensp
ENSP00000771676
resolver
ensp
ENSP00000780136
resolver
enst
ENST00000646290
resolver
genesymbol
SLC25A48
resolver
hgnc
HGNC:30451
resolver
uniprot
J3KQI1
resolver
uniprot
Q8TAV9
resolver
uniprot_entry
J3KQI1_HUMAN
resolver
uniprot_entry
S2548_HUMAN
resolver
uniprot_sec
Q8TAV9
resolver
amino_acid_sequence
MGSFQLEDFAAGWIGGAASVIVGHPLDTVKTRLQAGVGYGNTLSCIRVVYRRESMFGFFKGMSFPLASIAVYNSVVFGVFSNTQRFLSQHRCGEPEASPPRTLSDLLLASMVAGVVSVGLGGPVDLIKIRLQMQTQPFRDANLGLKSRAVAPAEQPAYQGPVHCITTIVRNEGLAGLYRGASAMLLRDVPGYCLYFIPYVFLSEWITPEACTGPSPCAVWLAGGMAGAISWGTATPMDVVKSRLQADGVYLNKYKGVLDCISQSYQKEGLKVFFRGITVNAVRGFPMSAAMFLGYELSLQAIRGDHAVTSP
uniprot
proteins
function
FUNCTION: Mitochondrial transporter that mediates choline import across the inner mitochondrial membrane, thereby regulating mitochondrial choline levels and downstream metabolism, including betaine and purine nucleotide synthesis (PubMed:39111307, PubMed:38977856, PubMed:39084256). Plays a key role in mitochondrial respiration, brown fat thermogenesis, and the maintenance of mitochondrial membrane integrity (By similarity). {ECO:0000250|UniProtKB:Q8BW66, ECO:0000269|PubMed:38977856, ECO:0000269|PubMed:39084256, ECO:0000269|PubMed:39111307}.
uniprot
proteins
mass_dalton
33440
uniprot
proteins
mutagenesis
MUTAGEN 27; /note="D->G: Does not affect mitochondrion membrane localization. Impairs mitochondrial choline uptake."; /evidence="ECO:0000269|PubMed:39084256"; MUTAGEN 64; /note="F->L: Does not affect mitochondrion membrane localization. Impairs mitochondrial choline uptake."; /evidence="ECO:0000269|PubMed:39084256"; MUTAGEN 179; /note="R->P: Reduction of mitochondrial localization. Impairs mitochondrial choline uptake."; /evidence="ECO:0000269|PubMed:39084256
uniprot
proteins
protein_family
Mitochondrial carrier (TC 2.A.29) family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15372022
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
38977856
uniprot
proteins
pubmed
39047301
uniprot
proteins
pubmed
39084256
uniprot
proteins
pubmed
39111307
uniprot
proteins
sequence_length
311
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion membrane {ECO:0000269|PubMed:38977856, ECO:0000269|PubMed:39084256}; Multi-pass membrane protein {ECO:0000255}. Mitochondrion inner membrane {ECO:0000269|PubMed:39047301}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 9..29; /note="Helical; Name=1"; /evidence="ECO:0000255"; TRANSMEM 61..81; /note="Helical; Name=2"; /evidence="ECO:0000255"; TRANSMEM 107..127; /note="Helical; Name=3"; /evidence="ECO:0000255"; TRANSMEM 189..209; /note="Helical; Name=4"; /evidence="ECO:0000255"; TRANSMEM 217..237; /note="Helical; Name=5"; /evidence="ECO:0000255"; TRANSMEM 277..295; /note="Helical; Name=6"; /evidence="ECO:0000255
uniprot
proteins