S49A3_HUMAN
ID S49A3_HUMAN Reviewed; 560 AA.
AC Q6UXD7; A8K7J5; Q6XYD4; Q8N6H1; Q9H6H6;
DT 23-JAN-2007, integrated into UniProtKB/Swiss-Prot.
DT 05-JUL-2004, sequence version 1.
DT 03-AUG-2022, entry version 126.
DE RecName: Full=Solute carrier family 49 member A3 {ECO:0000312|HGNC:HGNC:26177};
DE AltName: Full=Major facilitator superfamily domain-containing protein 7;
DE AltName: Full=Myosin light polypeptide 5 regulatory protein;
DE Short=MYL5;
GN Name=SLC49A3 {ECO:0000312|HGNC:HGNC:26177}; Synonyms=MFSD7;
GN ORFNames=LP2561, UNQ385/PRO717;
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 [LARGE SCALE MRNA] (ISOFORM 1).
RX PubMed=12975309; DOI=10.1101/gr.1293003;
RA Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J.,
RA Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P.,
RA Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E., Heldens S., Huang A.,
RA Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D.,
RA Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L.,
RA Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C.,
RA Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J.,
RA Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.;
RT "The secreted protein discovery initiative (SPDI), a large-scale effort to
RT identify novel human secreted and transmembrane proteins: a bioinformatics
RT assessment.";
RL Genome Res. 13:2265-2270(2003).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 3).
RC TISSUE=Spleen;
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Leukocyte;
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).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 196-560 (ISOFORMS 1/3).
RX PubMed=15498874; DOI=10.1073/pnas.0404089101;
RA Wan D., Gong Y., Qin W., Zhang P., Li J., Wei L., Zhou X., Li H., Qiu X.,
RA Zhong F., He L., Yu J., Yao G., Jiang H., Qian L., Yu Y., Shu H., Chen X.,
RA Xu H., Guo M., Pan Z., Chen Y., Ge C., Yang S., Gu J.;
RT "Large-scale cDNA transfection screening for genes related to cancer
RT development and progression.";
RL Proc. Natl. Acad. Sci. U.S.A. 101:15724-15729(2004).
CC -!- INTERACTION:
CC Q6UXD7-2; Q9Y282: ERGIC3; NbExp=3; IntAct=EBI-17682849, EBI-781551;
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane
CC protein {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q6UXD7-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q6UXD7-2; Sequence=VSP_022549;
CC Name=3;
CC IsoId=Q6UXD7-3; Sequence=VSP_022547, VSP_022548;
CC -!- SIMILARITY: Belongs to the major facilitator superfamily.
CC {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAP34459.1; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305};
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; AY358401; AAQ88767.1; -; mRNA.
DR EMBL; AK025922; BAB15283.1; -; mRNA.
DR EMBL; AK292010; BAF84699.1; -; mRNA.
DR EMBL; BC030246; AAH30246.1; -; mRNA.
DR EMBL; AY203936; AAP34459.1; ALT_SEQ; mRNA.
DR CCDS; CCDS3338.1; -. [Q6UXD7-2]
DR CCDS; CCDS75086.1; -. [Q6UXD7-1]
DR CCDS; CCDS77883.1; -. [Q6UXD7-3]
DR RefSeq; NP_001281270.1; NM_001294341.1. [Q6UXD7-1]
DR RefSeq; NP_001281271.1; NM_001294342.1. [Q6UXD7-3]
DR RefSeq; NP_115595.2; NM_032219.3. [Q6UXD7-2]
DR AlphaFoldDB; Q6UXD7; -.
DR SMR; Q6UXD7; -.
DR BioGRID; 123930; 3.
DR IntAct; Q6UXD7; 1.
DR STRING; 9606.ENSP00000384616; -.
DR TCDB; 2.A.1.28.8; the major facilitator superfamily (mfs).
DR iPTMnet; Q6UXD7; -.
DR PhosphoSitePlus; Q6UXD7; -.
DR BioMuta; MFSD7; -.
DR DMDM; 74738207; -.
DR jPOST; Q6UXD7; -.
DR MassIVE; Q6UXD7; -.
DR PaxDb; Q6UXD7; -.
DR PeptideAtlas; Q6UXD7; -.
DR PRIDE; Q6UXD7; -.
DR Antibodypedia; 42992; 30 antibodies from 15 providers.
DR DNASU; 84179; -.
DR Ensembl; ENST00000322224.9; ENSP00000320234.4; ENSG00000169026.13. [Q6UXD7-2]
DR Ensembl; ENST00000347950.9; ENSP00000307545.5; ENSG00000169026.13. [Q6UXD7-3]
DR Ensembl; ENST00000404286.6; ENSP00000384616.2; ENSG00000169026.13. [Q6UXD7-1]
DR GeneID; 84179; -.
DR KEGG; hsa:84179; -.
DR MANE-Select; ENST00000322224.9; ENSP00000320234.4; NM_032219.4; NP_115595.2. [Q6UXD7-2]
DR UCSC; uc003gax.4; human. [Q6UXD7-1]
DR CTD; 84179; -.
DR DisGeNET; 84179; -.
DR GeneCards; SLC49A3; -.
DR HGNC; HGNC:26177; SLC49A3.
DR HPA; ENSG00000169026; Low tissue specificity.
DR neXtProt; NX_Q6UXD7; -.
DR OpenTargets; ENSG00000169026; -.
DR PharmGKB; PA143485534; -.
DR VEuPathDB; HostDB:ENSG00000169026; -.
DR eggNOG; KOG2563; Eukaryota.
DR GeneTree; ENSGT01030000234625; -.
DR HOGENOM; CLU_023132_3_0_1; -.
DR InParanoid; Q6UXD7; -.
DR OMA; LASECTF; -.
DR OrthoDB; 702737at2759; -.
DR PhylomeDB; Q6UXD7; -.
DR TreeFam; TF314292; -.
DR PathwayCommons; Q6UXD7; -.
DR SignaLink; Q6UXD7; -.
DR BioGRID-ORCS; 84179; 3 hits in 1068 CRISPR screens.
DR GenomeRNAi; 84179; -.
DR Pharos; Q6UXD7; Tdark.
DR PRO; PR:Q6UXD7; -.
DR Proteomes; UP000005640; Chromosome 4.
DR RNAct; Q6UXD7; protein.
DR Bgee; ENSG00000169026; Expressed in apex of heart and 95 other tissues.
DR ExpressionAtlas; Q6UXD7; baseline and differential.
DR Genevisible; Q6UXD7; HS.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0022857; F:transmembrane transporter activity; IEA:InterPro.
DR Gene3D; 1.20.1250.20; -; 2.
DR InterPro; IPR011701; MFS.
DR InterPro; IPR036259; MFS_trans_sf.
DR Pfam; PF07690; MFS_1; 1.
DR SUPFAM; SSF103473; SSF103473; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Membrane; Reference proteome; Transmembrane;
KW Transmembrane helix; Transport.
FT CHAIN 1..560
FT /note="Solute carrier family 49 member A3"
FT /id="PRO_0000273408"
FT TRANSMEM 30..50
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 70..90
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 100..120
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 125..145
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 166..186
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 192..212
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 250..270
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 282..302
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 318..338
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 341..361
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 379..399
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 422..442
FT /note="Helical"
FT /evidence="ECO:0000255"
FT REGION 451..540
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 46..67
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_022547"
FT VAR_SEQ 99..195
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_022548"
FT VAR_SEQ 242
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_022549"
FT VARIANT 170
FT /note="S -> P (in dbSNP:rs11558585)"
FT /id="VAR_030144"
FT CONFLICT 241
FT /note="L -> P (in Ref. 2; BAB15283)"
FT /evidence="ECO:0000305"
FT CONFLICT 406
FT /note="P -> L (in Ref. 2; BAB15283)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 560 AA; 58427 MW; 41848AAEB46601A4 CRC64;
MAGPTEAETG LAEPRALCAQ RGHRTYARRW VFLLAISLLN CSNATLWLSF APVADVIAED
LVLSMEQINW LSLVYLVVST PFGVAAIWIL DSVGLRAATI LGAWLNFAGS VLRMVPCMVV
GTQNPFAFLM GGQSLCALAQ SLVIFSPAKL AALWFPEHQR ATANMLATMS NPLGVLVANV
LSPVLVKKGE DIPLMLGVYT IPAGVVCLLS TICLWESVPP TPPSAGAASS TSEKFLDGLK
LQLMWNKAYV ILAVCLGGMI GISASFSALL EQILCASGHS SGFSGLCGAL FITFGILGAL
ALGPYVDRTK HFTEATKIGL CLFSLACVPF ALVSQLQGQT LALAATCSLL GLFGFSVGPV
AMELAVECSF PVGEGAATGM IFVLGQAEGI LIMLAMTALT VRRSEPSLST CQQGEDPLDW
TVSLLLMAGL CTFFSCILAV FFHTPYRRLQ AESGEPPSTR NAVGGADSGP GVDRGGAGRA
GVLGPSTATP ECTARGASLE DPRGPGSPHP ACHRATPRAQ GPAATDAPSR PGRLAGRVQA
SRFIDPAGSH SSFSSPWVIT
