MFSD1_HUMAN
ID MFSD1_HUMAN Reviewed; 465 AA.
AC Q9H3U5; B4DGJ8; B4DMR8; B4DU49; B4DWU1; C9JS94; J3KQL7; Q05C07; Q5XKJ1;
AC Q8IVS1; Q8IXG4; Q9H7X1;
DT 23-JAN-2007, integrated into UniProtKB/Swiss-Prot.
DT 23-JAN-2007, sequence version 2.
DT 03-AUG-2022, entry version 147.
DE RecName: Full=Major facilitator superfamily domain-containing protein 1;
DE AltName: Full=Smooth muscle cell-associated protein 4;
DE Short=SMAP-4;
GN Name=MFSD1; Synonyms=SMAP4; ORFNames=UG0581B09;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RC TISSUE=Heart;
RA Nishimoto S., Toyoda H., Tawara J., Aoki T., Komurasaki T.;
RT "Molecular cloning and characterization of human smooth muscle cell
RT associated protein-4 (SMAP-4).";
RL Submitted (MAY-1998) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Fetal brain;
RA Mao Y., Xie Y.;
RT "Isolation of full-length cDNA clones from human fetal brain cDNA
RT library.";
RL Submitted (NOV-2003) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 2; 3 AND 4), AND
RP VARIANTS SER-24 AND VAL-220.
RC TISSUE=Brain, Esophagus, and Prostate;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), AND VARIANTS
RP GLU-168 AND VAL-220.
RC TISSUE=Brain, Duodenum, and Lung;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
CC -!- FUNCTION: Lysosomal transporter which is essential for liver
CC homeostasis. Required to maintain stability and lysosomal localization
CC of GLMP. {ECO:0000250|UniProtKB:Q9DC37}.
CC -!- SUBUNIT: Homodimer. Interacts with lysosomal protein GLMP (via lumenal
CC domain); the interaction starts while both proteins are still in the
CC endoplasmic reticulum and is required for stability and lysosomal
CC localization of MFSD1. {ECO:0000250|UniProtKB:Q9DC37}.
CC -!- SUBCELLULAR LOCATION: Lysosome membrane {ECO:0000250|UniProtKB:Q9DC37};
CC Multi-pass membrane protein {ECO:0000255}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=6;
CC Name=1;
CC IsoId=Q9H3U5-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9H3U5-2; Sequence=VSP_022537, VSP_022538;
CC Name=3;
CC IsoId=Q9H3U5-3; Sequence=VSP_037579;
CC Name=4;
CC IsoId=Q9H3U5-4; Sequence=VSP_037578;
CC Name=5;
CC IsoId=Q9H3U5-5; Sequence=VSP_047667, VSP_047668;
CC Name=6;
CC IsoId=Q9H3U5-6; Sequence=VSP_047667;
CC -!- DOMAIN: The dileucine internalization motif is required for lysosomal
CC localization. {ECO:0000250|UniProtKB:Q9DC37}.
CC -!- PTM: Not N-glycosylated. {ECO:0000250|UniProtKB:Q9DC37}.
CC -!- MISCELLANEOUS: [Isoform 2]: May be produced at very low levels due to a
CC premature stop codon in the mRNA, leading to nonsense-mediated mRNA
CC decay. {ECO:0000305}.
CC -!- SIMILARITY: Belongs to the major facilitator superfamily.
CC {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH30542.1; Type=Erroneous translation; Note=Wrong choice of CDS.; Evidence={ECO:0000305};
CC Sequence=AAN76517.2; Type=Miscellaneous discrepancy; Note=Aberrant splicing.; Evidence={ECO:0000305};
CC Sequence=BAB20269.1; Type=Frameshift; Evidence={ECO:0000305};
CC Sequence=BAG57809.1; Type=Erroneous translation; Note=Wrong choice of CDS.; Evidence={ECO:0000305};
CC Sequence=BAG59980.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AB014732; BAB20269.1; ALT_FRAME; mRNA.
DR EMBL; AF351617; AAN76517.2; ALT_SEQ; mRNA.
DR EMBL; AK024215; BAB14852.1; -; mRNA.
DR EMBL; AK294628; BAG57809.1; ALT_SEQ; mRNA.
DR EMBL; AK297593; BAG59980.1; ALT_INIT; mRNA.
DR EMBL; AK300497; BAG62211.1; -; mRNA.
DR EMBL; AK301680; BAG63153.1; -; mRNA.
DR EMBL; AC080013; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC128694; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC030542; AAH30542.1; ALT_SEQ; mRNA.
DR EMBL; BC042197; AAH42197.1; -; mRNA.
DR CCDS; CCDS3185.2; -. [Q9H3U5-1]
DR CCDS; CCDS54666.1; -. [Q9H3U5-3]
DR RefSeq; NP_001161375.1; NM_001167903.1.
DR RefSeq; NP_001276335.1; NM_001289406.1.
DR RefSeq; NP_001276336.1; NM_001289407.1. [Q9H3U5-4]
DR RefSeq; NP_073573.2; NM_022736.2. [Q9H3U5-1]
DR RefSeq; XP_006713793.1; XM_006713730.2. [Q9H3U5-5]
DR AlphaFoldDB; Q9H3U5; -.
DR SMR; Q9H3U5; -.
DR BioGRID; 122263; 6.
DR STRING; 9606.ENSP00000403117; -.
DR iPTMnet; Q9H3U5; -.
DR PhosphoSitePlus; Q9H3U5; -.
DR BioMuta; MFSD1; -.
DR DMDM; 124015158; -.
DR EPD; Q9H3U5; -.
DR jPOST; Q9H3U5; -.
DR MassIVE; Q9H3U5; -.
DR MaxQB; Q9H3U5; -.
DR PaxDb; Q9H3U5; -.
DR PeptideAtlas; Q9H3U5; -.
DR PRIDE; Q9H3U5; -.
DR ProteomicsDB; 11457; -.
DR ProteomicsDB; 80759; -. [Q9H3U5-1]
DR ProteomicsDB; 80760; -. [Q9H3U5-2]
DR ProteomicsDB; 80761; -. [Q9H3U5-3]
DR ProteomicsDB; 80762; -. [Q9H3U5-4]
DR Antibodypedia; 54152; 96 antibodies from 25 providers.
DR DNASU; 64747; -.
DR Ensembl; ENST00000264266.12; ENSP00000264266.5; ENSG00000118855.21. [Q9H3U5-1]
DR Ensembl; ENST00000392813.8; ENSP00000376560.4; ENSG00000118855.21. [Q9H3U5-5]
DR Ensembl; ENST00000415822.8; ENSP00000403117.3; ENSG00000118855.21. [Q9H3U5-1]
DR Ensembl; ENST00000480292.5; ENSP00000419467.2; ENSG00000118855.21. [Q9H3U5-2]
DR Ensembl; ENST00000484166.5; ENSP00000417950.2; ENSG00000118855.21. [Q9H3U5-2]
DR Ensembl; ENST00000622669.4; ENSP00000484175.1; ENSG00000118855.21. [Q9H3U5-6]
DR GeneID; 64747; -.
DR KEGG; hsa:64747; -.
DR MANE-Select; ENST00000415822.8; ENSP00000403117.3; NM_022736.4; NP_073573.3.
DR UCSC; uc003fcl.3; human. [Q9H3U5-1]
DR CTD; 64747; -.
DR DisGeNET; 64747; -.
DR GeneCards; MFSD1; -.
DR HGNC; HGNC:25874; MFSD1.
DR HPA; ENSG00000118855; Low tissue specificity.
DR neXtProt; NX_Q9H3U5; -.
DR OpenTargets; ENSG00000118855; -.
DR PharmGKB; PA134947356; -.
DR VEuPathDB; HostDB:ENSG00000118855; -.
DR eggNOG; KOG4686; Eukaryota.
DR GeneTree; ENSGT00390000011700; -.
DR HOGENOM; CLU_2621386_0_0_1; -.
DR InParanoid; Q9H3U5; -.
DR OMA; YYSAIFP; -.
DR OrthoDB; 941048at2759; -.
DR PhylomeDB; Q9H3U5; -.
DR TreeFam; TF323603; -.
DR PathwayCommons; Q9H3U5; -.
DR BioGRID-ORCS; 64747; 6 hits in 1076 CRISPR screens.
DR ChiTaRS; MFSD1; human.
DR GenomeRNAi; 64747; -.
DR Pharos; Q9H3U5; Tdark.
DR PRO; PR:Q9H3U5; -.
DR Proteomes; UP000005640; Chromosome 3.
DR RNAct; Q9H3U5; protein.
DR Bgee; ENSG00000118855; Expressed in monocyte and 202 other tissues.
DR ExpressionAtlas; Q9H3U5; baseline and differential.
DR Genevisible; Q9H3U5; HS.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0005765; C:lysosomal membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0005764; C:lysosome; ISS:UniProtKB.
DR GO; GO:0042803; F:protein homodimerization activity; ISS:UniProtKB.
DR GO; GO:0022857; F:transmembrane transporter activity; IEA:InterPro.
DR GO; GO:0061462; P:protein localization to lysosome; ISS:UniProtKB.
DR GO; GO:0050821; P:protein stabilization; ISS:UniProtKB.
DR Gene3D; 1.20.1250.20; -; 2.
DR InterPro; IPR011701; MFS.
DR InterPro; IPR020846; MFS_dom.
DR InterPro; IPR036259; MFS_trans_sf.
DR Pfam; PF07690; MFS_1; 1.
DR SUPFAM; SSF103473; SSF103473; 1.
DR PROSITE; PS50850; MFS; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Lysosome; Membrane; Reference proteome;
KW Transmembrane; Transmembrane helix; Transport.
FT CHAIN 1..465
FT /note="Major facilitator superfamily domain-containing
FT protein 1"
FT /id="PRO_0000273382"
FT TRANSMEM 39..59
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 83..103
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 113..133
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 135..155
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 170..191
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 213..233
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 266..286
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 303..323
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 331..351
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 361..381
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 392..412
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 418..438
FT /note="Helical"
FT /evidence="ECO:0000255"
FT REGION 1..23
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOTIF 11..12
FT /note="Dileucine internalization motif"
FT /evidence="ECO:0000250|UniProtKB:Q9DC37"
FT VAR_SEQ 1..73
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_037578"
FT VAR_SEQ 1
FT /note="M -> MGVALRDLPGRHVSSRSHVTAVLTVFHGRCFLPGFGVVTTFPSPSPA
FT GAM (in isoform 5 and isoform 6)"
FT /evidence="ECO:0000305"
FT /id="VSP_047667"
FT VAR_SEQ 55..110
FT /note="GSYFCYDNPAALQTQVKRDMQVNTTKFMLLYAWYSWPNVVLCFFGGFLIDRV
FT FGIR -> AIFAMIILLPFRLKLDE (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_037579"
FT VAR_SEQ 55..110
FT /note="GSYFCYDNPAALQTQVKRDMQVNTTKFMLLYAWYSWPNVVLCFFGGFLIDRV
FT FGIR -> AIFAMIILLPFRLKLNE (in isoform 5)"
FT /evidence="ECO:0000305"
FT /id="VSP_047668"
FT VAR_SEQ 73..78
FT /note="DMQVNT -> MGHNHF (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_022537"
FT VAR_SEQ 79..465
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_022538"
FT VARIANT 24
FT /note="P -> S (in dbSNP:rs28364680)"
FT /evidence="ECO:0000269|PubMed:14702039"
FT /id="VAR_030138"
FT VARIANT 168
FT /note="K -> E (in dbSNP:rs17854200)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_030139"
FT VARIANT 220
FT /note="I -> V (in dbSNP:rs3765083)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334"
FT /id="VAR_030140"
FT VARIANT 271
FT /note="I -> T (in dbSNP:rs11551240)"
FT /id="VAR_059466"
FT CONFLICT 275
FT /note="C -> R (in Ref. 1; BAB20269)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 465 AA; 51209 MW; 24D53BDE6D1CCA26 CRC64;
MEEEDEEARA LLAGGPDEAD RGAPAAPGAL PALCDPSRLA HRLLVLLLMC FLGFGSYFCY
DNPAALQTQV KRDMQVNTTK FMLLYAWYSW PNVVLCFFGG FLIDRVFGIR WGTIIFSCFV
CIGQVVFALG GIFNAFWLME FGRFVFGIGG ESLAVAQNTY AVSWFKGKEL NLVFGLQLSM
ARIGSTVNMN LMGWLYSKIE ALLGSAGHTT LGITLMIGGI TCILSLICAL ALAYLDQRAE
RILHKEQGKT GEVIKLTDVK DFSLPLWLIF IICVCYYVAV FPFIGLGKVF FTEKFGFSSQ
AASAINSVVY VISAPMSPVF GLLVDKTGKN IIWVLCAVAA TLVSHMMLAF TMWNPWIAMC
LLGLSYSLLA CALWPMVAFV VPEHQLGTAY GFMQSIQNLG LAIISIIAGM ILDSRGYLFL
EVFFIACVSL SLLSVVLLYL VNRAQGGNLN YSARQREEIK FSHTE
