LAAT1_MOUSE
ID LAAT1_MOUSE Reviewed; 293 AA.
AC Q8C4N4; Q8R132;
DT 03-APR-2007, integrated into UniProtKB/Swiss-Prot.
DT 01-MAR-2003, sequence version 1.
DT 03-AUG-2022, entry version 114.
DE RecName: Full=Lysosomal amino acid transporter 1 homolog {ECO:0000305};
DE AltName: Full=PQ-loop repeat-containing protein 2;
DE AltName: Full=Solute carrier family 66 member 1 {ECO:0000305};
GN Name=Slc66a1 {ECO:0000312|MGI:MGI:2384837};
GN Synonyms=Pqlc2 {ECO:0000303|PubMed:23169667};
OS Mus musculus (Mouse).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae;
OC Murinae; Mus; Mus.
OX NCBI_TaxID=10090;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC STRAIN=C57BL/6J, and NOD; TISSUE=Head, and Spleen;
RX PubMed=16141072; DOI=10.1126/science.1112014;
RA Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N.,
RA Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K.,
RA Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J.,
RA Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R.,
RA Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T.,
RA Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A.,
RA Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B.,
RA Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M.,
RA Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S.,
RA Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E.,
RA Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D.,
RA Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M.,
RA Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H.,
RA Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V.,
RA Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S.,
RA Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H.,
RA Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N.,
RA Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F.,
RA Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G.,
RA Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z.,
RA Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C.,
RA Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y.,
RA Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S.,
RA Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K.,
RA Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R.,
RA van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H.,
RA Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M.,
RA Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C.,
RA Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S.,
RA Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K.,
RA Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M.,
RA Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C.,
RA Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A.,
RA Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.;
RT "The transcriptional landscape of the mammalian genome.";
RL Science 309:1559-1563(2005).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC STRAIN=C57BL/6J;
RX PubMed=19468303; DOI=10.1371/journal.pbio.1000112;
RA Church D.M., Goodstadt L., Hillier L.W., Zody M.C., Goldstein S., She X.,
RA Bult C.J., Agarwala R., Cherry J.L., DiCuccio M., Hlavina W., Kapustin Y.,
RA Meric P., Maglott D., Birtle Z., Marques A.C., Graves T., Zhou S.,
RA Teague B., Potamousis K., Churas C., Place M., Herschleb J., Runnheim R.,
RA Forrest D., Amos-Landgraf J., Schwartz D.C., Cheng Z., Lindblad-Toh K.,
RA Eichler E.E., Ponting C.P.;
RT "Lineage-specific biology revealed by a finished genome assembly of the
RT mouse.";
RL PLoS Biol. 7:E1000112-E1000112(2009).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC STRAIN=FVB/N; TISSUE=Liver;
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 TISSUE SPECIFICITY.
RX PubMed=23169667; DOI=10.1073/pnas.1211198109;
RA Jezegou A., Llinares E., Anne C., Kieffer-Jaquinod S., O'Regan S.,
RA Aupetit J., Chabli A., Sagne C., Debacker C., Chadefaux-Vekemans B.,
RA Journet A., Andre B., Gasnier B.;
RT "Heptahelical protein PQLC2 is a lysosomal cationic amino acid exporter
RT underlying the action of cysteamine in cystinosis therapy.";
RL Proc. Natl. Acad. Sci. U.S.A. 109:E3434-E3443(2012).
CC -!- FUNCTION: Amino acid transporter that specifically mediates the pH-
CC dependent export of the cationic amino acids arginine, histidine and
CC lysine from lysosomes. {ECO:0000250}.
CC -!- SUBCELLULAR LOCATION: Lysosome membrane {ECO:0000250}; Multi-pass
CC membrane protein {ECO:0000250}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q8C4N4-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8C4N4-2; Sequence=VSP_024153;
CC -!- TISSUE SPECIFICITY: Ubiquitously expressed.
CC {ECO:0000269|PubMed:23169667}.
CC -!- DOMAIN: The di-leucine motif mediates lysosomal localization.
CC {ECO:0000250}.
CC -!- SIMILARITY: Belongs to the laat-1 family. {ECO:0000305}.
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DR EMBL; AK081661; BAC38282.1; -; mRNA.
DR EMBL; AK156668; BAE33801.1; -; mRNA.
DR EMBL; AL807811; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC025609; AAH25609.1; -; mRNA.
DR CCDS; CCDS18843.2; -. [Q8C4N4-1]
DR RefSeq; NP_663359.2; NM_145384.2. [Q8C4N4-1]
DR RefSeq; XP_011248522.1; XM_011250220.2.
DR RefSeq; XP_011248523.1; XM_011250221.2.
DR RefSeq; XP_011248524.1; XM_011250222.2.
DR RefSeq; XP_017175584.1; XM_017320095.1.
DR AlphaFoldDB; Q8C4N4; -.
DR STRING; 10090.ENSMUSP00000059772; -.
DR GlyGen; Q8C4N4; 2 sites.
DR iPTMnet; Q8C4N4; -.
DR PhosphoSitePlus; Q8C4N4; -.
DR PaxDb; Q8C4N4; -.
DR PRIDE; Q8C4N4; -.
DR ProteomicsDB; 264903; -. [Q8C4N4-1]
DR ProteomicsDB; 264904; -. [Q8C4N4-2]
DR Antibodypedia; 46685; 92 antibodies from 17 providers.
DR DNASU; 212555; -.
DR Ensembl; ENSMUST00000053862; ENSMUSP00000059772; ENSMUSG00000028744. [Q8C4N4-1]
DR Ensembl; ENSMUST00000139840; ENSMUSP00000121362; ENSMUSG00000028744. [Q8C4N4-1]
DR Ensembl; ENSMUST00000172747; ENSMUSP00000134464; ENSMUSG00000028744. [Q8C4N4-1]
DR GeneID; 212555; -.
DR KEGG; mmu:212555; -.
DR UCSC; uc008vma.2; mouse. [Q8C4N4-1]
DR CTD; 54896; -.
DR MGI; MGI:2384837; Slc66a1.
DR VEuPathDB; HostDB:ENSMUSG00000028744; -.
DR eggNOG; KOG2913; Eukaryota.
DR GeneTree; ENSGT00390000003344; -.
DR HOGENOM; CLU_019699_3_0_1; -.
DR InParanoid; Q8C4N4; -.
DR OMA; LAQCFYY; -.
DR PhylomeDB; Q8C4N4; -.
DR TreeFam; TF313694; -.
DR Reactome; R-MMU-5223345; Miscellaneous transport and binding events.
DR BioGRID-ORCS; 212555; 5 hits in 72 CRISPR screens.
DR ChiTaRS; Pqlc2; mouse.
DR PRO; PR:Q8C4N4; -.
DR Proteomes; UP000000589; Chromosome 4.
DR RNAct; Q8C4N4; protein.
DR Bgee; ENSMUSG00000028744; Expressed in yolk sac and 186 other tissues.
DR ExpressionAtlas; Q8C4N4; baseline and differential.
DR Genevisible; Q8C4N4; MM.
DR GO; GO:0016021; C:integral component of membrane; IBA:GO_Central.
DR GO; GO:0031301; C:integral component of organelle membrane; ISS:UniProtKB.
DR GO; GO:0043231; C:intracellular membrane-bounded organelle; ISO:MGI.
DR GO; GO:0005765; C:lysosomal membrane; ISS:UniProtKB.
DR GO; GO:0015174; F:basic amino acid transmembrane transporter activity; ISS:UniProtKB.
DR GO; GO:0061459; F:L-arginine transmembrane transporter activity; ISS:UniProtKB.
DR GO; GO:0015189; F:L-lysine transmembrane transporter activity; ISS:UniProtKB.
DR GO; GO:0080144; P:amino acid homeostasis; ISS:UniProtKB.
DR GO; GO:1903826; P:L-arginine transmembrane transport; ISS:UniProtKB.
DR GO; GO:0015819; P:lysine transport; ISS:UniProtKB.
DR InterPro; IPR006603; PQ-loop_rpt.
DR Pfam; PF04193; PQ-loop; 2.
DR SMART; SM00679; CTNS; 2.
PE 2: Evidence at transcript level;
KW Alternative splicing; Amino-acid transport; Glycoprotein; Lysosome;
KW Membrane; Reference proteome; Repeat; Transmembrane; Transmembrane helix;
KW Transport.
FT CHAIN 1..293
FT /note="Lysosomal amino acid transporter 1 homolog"
FT /id="PRO_0000282435"
FT TOPO_DOM 1..37
FT /note="Lumenal"
FT /evidence="ECO:0000255"
FT TRANSMEM 38..58
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 59..71
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 72..92
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 93..96
FT /note="Lumenal"
FT /evidence="ECO:0000255"
FT TRANSMEM 97..117
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 118..127
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 128..148
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 149..182
FT /note="Lumenal"
FT /evidence="ECO:0000255"
FT TRANSMEM 183..203
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 204..214
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 215..235
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 236..254
FT /note="Lumenal"
FT /evidence="ECO:0000255"
FT TRANSMEM 255..275
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 276..293
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT DOMAIN 34..100
FT /note="PQ-loop 1"
FT DOMAIN 191..243
FT /note="PQ-loop 2"
FT MOTIF 290..291
FT /note="Di-leucine motif"
FT CARBOHYD 10
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 16
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VAR_SEQ 1..65
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_024153"
SQ SEQUENCE 293 AA; 32200 MW; C5B18BD4DC2CE2BD CRC64;
MVWRTLGASN FSTCPNGSVQ WIWDVFGECA QDGWDEASVG LGLVSILCFA ASTFPQYIKA
CKTGNMDQAL SLWFLLGWIG GDSCNLIGSF LADQLPLQTY TAVYYVLADL MMLTLYFHYK
FKKRPSPLSA PINSVLLFIL GTVCITPLLS STDPVAVPRE GFRGRTLLSV EPGNKPFTKK
EVIGFVIGSA SSLLYLLSRL PQIRTNFIRQ STQGISYSLF ALVMLGNTLY GLSVLLKNPE
VGQSEGSYLL HHLPWLVGSL GVLLLDTIIS IQFLVYRSHE TAAASEREPL LPS
