MFSD12
entrez
126321
canonical
uniprot
Q6NUT3
canonical
ensembl
ENSG00000161091
resolver
ensp
ENSP00000347583
resolver
ensp
ENSP00000467207
resolver
ensp
ENSP00000583328
resolver
ensp
ENSP00000724028
resolver
ensp
ENSP00000724030
resolver
genesymbol
MFSD12
resolver
genesymbol_syn
C19orf28
resolver
hgnc
HGNC:28299
resolver
uniprot
A8MXP7
resolver
uniprot
D6W615
resolver
uniprot
E9PAJ8
resolver
uniprot
Q8N459
resolver
uniprot_entry
MFS12_HUMAN
resolver
uniprot_sec
A8MXP7
resolver
uniprot_sec
D6W615
resolver
uniprot_sec
E9PAJ8
resolver
uniprot_sec
Q8N459
resolver
amino_acid_sequence
MGPGPPAAGAAPSPRPLSLVARLSYAVGHFLNDLCASMWFTYLLLYLHSVRAYSSRGAGLLLLLGQVADGLCTPLVGYEADRAASCCARYGPRKAWHLVGTVCVLLSFPFIFSPCLGCGAATPEWAALLYYGPFIVIFQFGWASTQISHLSLIPELVTNDHEKVELTALRYAFTVVANITVYGAAWLLLHLQGSSRVEPTQDISISDQLGGQDVPVFRNLSLLVVGVGAVFSLLFHLGTRERRRPHAEEPGEHTPLLAPATAQPLLLWKHWLREPAFYQVGILYMTTRLIVNLSQTYMAMYLTYSLHLPKKFIATIPLVMYLSGFLSSFLMKPINKCIGRNMTYFSGLLVILAFAAWVALAEGLGVAVYAAAVLLGAGCATILVTSLAMTADLIGPHTNSGAFVYGSMSFLDKVANGLAVMAIQSLHPCPSELCCRACVSFYHWAMVAVTGGVGVAAALCLCSLLLWPTRLRRWDRDARP
uniprot
proteins
function
FUNCTION: Transporter that mediates the import of cysteine into melanosomes, thereby regulating skin pigmentation (PubMed:33208952, PubMed:37751742). In melanosomes, cysteine import is required both for normal levels of cystine, the oxidized dimer of cysteine, and provide cysteine for the production of the cysteinyldopas used in pheomelanin synthesis, thereby regulating skin pigmentation (PubMed:33208952). Also catalyzes import of cysteine into lysosomes in non-pigmented cells, regulating lysosomal cystine and cysteine storage, which is essential for redox homeostasis (PubMed:33208952, PubMed:37751742). {ECO:0000269|PubMed:33208952, ECO:0000269|PubMed:37751742}.
uniprot
proteins
mass_dalton
52075
uniprot
proteins
mutagenesis
MUTAGEN 13; /note="S->A: Does not affect phosphorylation by MTOR."; /evidence="ECO:0000269|PubMed:37751742"; MUTAGEN 73; /note="T->A: Does not affect phosphorylation by MTOR."; /evidence="ECO:0000269|PubMed:37751742"; MUTAGEN 113; /note="S->A: Does not affect phosphorylation by MTOR."; /evidence="ECO:0000269|PubMed:37751742"; MUTAGEN 122; /note="T->A: Does not affect phosphorylation by MTOR."; /evidence="ECO:0000269|PubMed:37751742"; MUTAGEN 254; /note="T->A: Abolished phosphorylation by MTOR; dominant-negative inhibitor of cysteine transporter activity."; /evidence="ECO:0000269|PubMed:37751742"; MUTAGEN 254; /note="T->D: Mimics phosphorylation; enhanced cysteine and cystine storage in lysosomes."; /evidence="ECO:0000269|PubMed:37751742"; MUTAGEN 256..257; /note="LL->AA: Reduced localization to lysosomes and redirection to the cell membrane."; /evidence="ECO:0000269|PubMed:33208952
uniprot
proteins
post_translational_modification
PTM: Phosphorylation at Thr-254 by MTOR via mTORC1 pathway promotes cysteine transport in lysosomes, thereby regulating lysosomal cysteine and cystine storage and redox homeostasis. {ECO:0000269|PubMed:37751742}.
uniprot
proteins
protein_family
Major facilitator superfamily
uniprot
proteins
pubmed
15057824
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
25732826
uniprot
proteins
pubmed
29025994
uniprot
proteins
pubmed
30664655
uniprot
proteins
pubmed
33208952
uniprot
proteins
pubmed
37751742
uniprot
proteins
sequence_length
480
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Melanosome membrane {ECO:0000269|PubMed:33208952}; Multi-pass membrane protein {ECO:0000255}. Lysosome membrane {ECO:0000269|PubMed:29025994, ECO:0000269|PubMed:33208952, ECO:0000269|PubMed:37751742}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 27..47; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 57..77; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 98..118; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 125..145; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 171..191; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 219..239; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 280..302; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 311..331; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 348..368; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 369..389; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 403..423; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 447..467; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins