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2.A.2.7.3
MFSD12, melanosome and lysosome cysteine transporter, of 480 aas and 12 TMSs. It is associated with skin pigmentation in humans, mice, dogs and horses (Crawford et al. 2017; Adhikari et al. 2019; Hédan et al. 2019; Tanaka et al. 2019). Its upregulated expression is observed in melanoma, and elevated MFSD12 level promoted cell proliferation by promoting cell cycle progression (Wei et al. 2019). MFSD12 interference inhibited tumor growth and lung metastasis in melanoma. It mediates the import of cysteine into melanosomes and lysosomes (Adelmann et al. 2020). MFSD12 is required to maintain normal levels of cystine - the oxidized dimer of cysteine - in melanosomes, and to produce cysteinyldopas, the precursors of pheomelanin synthesis made in melanosomes via cysteine oxidation. MFSD12 is necessary for the import of cysteine into melanosomes and, in non-pigmented cells, lysosomes. Loss of MFSD12 reduced the accumulation of cystine in lysosomes of fibroblasts from patients with cystinosis, a lysosomal-storage disease caused by inactivation of the lysosomal cystine exporter, cystinosin (TC# 2.A.43.1.1). Thus, MFSD12 is an essential component of the cysteine importer for melanosomes and lysosomes (Adelmann et al. 2020).

Accession Number:Q6NUT3
Protein Name:Major facilitator superfamily domain-containing protein 12
Length:480
Molecular Weight:52075.00
Species:Homo sapiens (Human) [9606]
Number of TMSs:12
Location1 / Topology2 / Orientation3: Membrane1 / Multi-pass membrane protein2
Substrate

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FASTA formatted sequence
1:	MGPGPPAAGA APSPRPLSLV ARLSYAVGHF LNDLCASMWF TYLLLYLHSV RAYSSRGAGL 
61:	LLLLGQVADG LCTPLVGYEA DRAASCCARY GPRKAWHLVG TVCVLLSFPF IFSPCLGCGA 
121:	ATPEWAALLY YGPFIVIFQF GWASTQISHL SLIPELVTND HEKVELTALR YAFTVVANIT 
181:	VYGAAWLLLH LQGSSRVEPT QDISISDQLG GQDVPVFRNL SLLVVGVGAV FSLLFHLGTR 
241:	ERRRPHAEEP GEHTPLLAPA TAQPLLLWKH WLREPAFYQV GILYMTTRLI VNLSQTYMAM 
301:	YLTYSLHLPK KFIATIPLVM YLSGFLSSFL MKPINKCIGR NMTYFSGLLV ILAFAAWVAL 
361:	AEGLGVAVYA AAVLLGAGCA TILVTSLAMT ADLIGPHTNS GAFVYGSMSF LDKVANGLAV 
421:	MAIQSLHPCP SELCCRACVS FYHWAMVAVT GGVGVAAALC LCSLLLWPTR LRRWDRDARP