EAA5_HUMAN
ID EAA5_HUMAN Reviewed; 560 AA.
AC O00341; Q5VVZ0; Q969Z8; Q9BW45;
DT 15-JUL-1998, integrated into UniProtKB/Swiss-Prot.
DT 23-SEP-2008, sequence version 2.
DT 03-AUG-2022, entry version 175.
DE RecName: Full=Excitatory amino acid transporter 5;
DE AltName: Full=Retinal glutamate transporter;
DE AltName: Full=Solute carrier family 1 member 7;
GN Name=SLC1A7; Synonyms=EAAT5;
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), AND VARIANT ARG-537.
RC TISSUE=Retina;
RX PubMed=9108121; DOI=10.1073/pnas.94.8.4155;
RA Arriza J.L., Eliasof S., Kavanaugh M.P., Amara S.G.;
RT "Excitatory amino acid transporter 5, a retinal glutamate transporter
RT coupled to a chloride conductance.";
RL Proc. Natl. Acad. Sci. U.S.A. 94:4155-4160(1997).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16710414; DOI=10.1038/nature04727;
RA Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A.,
RA Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C.,
RA Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.,
RA Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C.,
RA Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W.,
RA Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J.,
RA Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J.,
RA Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y.,
RA Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J.,
RA Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
RA Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
RA Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
RA Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S.,
RA Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K.,
RA Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R.,
RA Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M.,
RA Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S.,
RA Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J.,
RA Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W.,
RA McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
RA Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
RA Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
RA Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
RA Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S.,
RA Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M.,
RA White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H.,
RA Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E.,
RA Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G.,
RA Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.;
RT "The DNA sequence and biological annotation of human chromosome 1.";
RL Nature 441:315-321(2006).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND VARIANT ARG-537.
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), AND VARIANT
RP ARG-537.
RC TISSUE=Eye;
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 [5]
RP VARIANT [LARGE SCALE ANALYSIS] CYS-41.
RX PubMed=16959974; DOI=10.1126/science.1133427;
RA Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D.,
RA Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P.,
RA Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V.,
RA Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H.,
RA Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W.,
RA Velculescu V.E.;
RT "The consensus coding sequences of human breast and colorectal cancers.";
RL Science 314:268-274(2006).
CC -!- FUNCTION: Transports L-glutamate; the L-glutamate uptake is sodium- and
CC voltage-dependent and chloride-independent. Its associated chloride
CC conductance may participate in visual processing.
CC -!- SUBUNIT: Interacts with the PDZ domains of DLG4.
CC -!- SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=O00341-1; Sequence=Displayed;
CC Name=2;
CC IsoId=O00341-2; Sequence=VSP_056560, VSP_056561;
CC -!- TISSUE SPECIFICITY: Expressed primarily in retina. Detectable in liver,
CC heart, muscle and brain.
CC -!- SIMILARITY: Belongs to the dicarboxylate/amino acid:cation symporter
CC (DAACS) (TC 2.A.23) family. SLC1A7 subfamily. {ECO:0000305}.
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DR EMBL; U76362; AAB53971.1; -; mRNA.
DR EMBL; AL445183; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471059; EAX06754.1; -; Genomic_DNA.
DR EMBL; CH471059; EAX06755.1; -; Genomic_DNA.
DR EMBL; BC000651; AAH00651.1; -; mRNA.
DR EMBL; BC012119; AAH12119.1; -; mRNA.
DR EMBL; BC017242; AAH17242.1; -; mRNA.
DR CCDS; CCDS574.1; -. [O00341-1]
DR CCDS; CCDS72798.1; -. [O00341-2]
DR RefSeq; NP_001274525.1; NM_001287596.1. [O00341-2]
DR RefSeq; NP_001274526.1; NM_001287597.1.
DR RefSeq; NP_006662.3; NM_006671.5. [O00341-1]
DR AlphaFoldDB; O00341; -.
DR SMR; O00341; -.
DR BioGRID; 112403; 2.
DR IntAct; O00341; 2.
DR STRING; 9606.ENSP00000478639; -.
DR DrugBank; DB00142; Glutamic acid.
DR GuidetoPHARMACOLOGY; 872; -.
DR TCDB; 2.A.23.2.5; the dicarboxylate/amino acid:cation (na(+) or h(+)) symporter (daacs) family.
DR GlyGen; O00341; 1 site.
DR iPTMnet; O00341; -.
DR PhosphoSitePlus; O00341; -.
DR BioMuta; SLC1A7; -.
DR EPD; O00341; -.
DR jPOST; O00341; -.
DR MassIVE; O00341; -.
DR PaxDb; O00341; -.
DR PeptideAtlas; O00341; -.
DR PRIDE; O00341; -.
DR Antibodypedia; 46889; 142 antibodies from 22 providers.
DR DNASU; 6512; -.
DR Ensembl; ENST00000371491.4; ENSP00000360546.4; ENSG00000162383.13. [O00341-2]
DR Ensembl; ENST00000371494.9; ENSP00000360549.5; ENSG00000162383.13. [O00341-1]
DR GeneID; 6512; -.
DR KEGG; hsa:6512; -.
DR MANE-Select; ENST00000371494.9; ENSP00000360549.5; NM_006671.6; NP_006662.3.
DR UCSC; uc001cuy.5; human. [O00341-1]
DR CTD; 6512; -.
DR DisGeNET; 6512; -.
DR GeneCards; SLC1A7; -.
DR HGNC; HGNC:10945; SLC1A7.
DR HPA; ENSG00000162383; Tissue enriched (retina).
DR MIM; 604471; gene.
DR neXtProt; NX_O00341; -.
DR OpenTargets; ENSG00000162383; -.
DR PharmGKB; PA35832; -.
DR VEuPathDB; HostDB:ENSG00000162383; -.
DR GeneTree; ENSGT00940000156073; -.
DR InParanoid; O00341; -.
DR OMA; VAMKKPQ; -.
DR PhylomeDB; O00341; -.
DR TreeFam; TF315206; -.
DR PathwayCommons; O00341; -.
DR Reactome; R-HSA-210500; Glutamate Neurotransmitter Release Cycle.
DR Reactome; R-HSA-425393; Transport of inorganic cations/anions and amino acids/oligopeptides.
DR SignaLink; O00341; -.
DR SIGNOR; O00341; -.
DR BioGRID-ORCS; 6512; 9 hits in 1074 CRISPR screens.
DR GeneWiki; Excitatory_amino-acid_transporter_5; -.
DR GenomeRNAi; 6512; -.
DR Pharos; O00341; Tchem.
DR PRO; PR:O00341; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; O00341; protein.
DR Bgee; ENSG00000162383; Expressed in mucosa of stomach and 104 other tissues.
DR ExpressionAtlas; O00341; baseline and differential.
DR Genevisible; O00341; HS.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0005886; C:plasma membrane; IBA:GO_Central.
DR GO; GO:0098793; C:presynapse; IEA:GOC.
DR GO; GO:0015501; F:glutamate:sodium symporter activity; IBA:GO_Central.
DR GO; GO:0005314; F:high-affinity L-glutamate transmembrane transporter activity; TAS:Reactome.
DR GO; GO:0005313; F:L-glutamate transmembrane transporter activity; IBA:GO_Central.
DR GO; GO:0015175; F:neutral amino acid transmembrane transporter activity; IBA:GO_Central.
DR GO; GO:0006835; P:dicarboxylic acid transport; TAS:UniProtKB.
DR GO; GO:0006811; P:ion transport; TAS:Reactome.
DR GO; GO:0015813; P:L-glutamate transmembrane transport; IBA:GO_Central.
DR GO; GO:0098810; P:neurotransmitter reuptake; IMP:SynGO.
DR GO; GO:0006836; P:neurotransmitter transport; TAS:Reactome.
DR GO; GO:0001504; P:neurotransmitter uptake; IMP:SynGO.
DR Gene3D; 1.10.3860.10; -; 1.
DR InterPro; IPR001991; Na-dicarboxylate_symporter.
DR InterPro; IPR018107; Na-dicarboxylate_symporter_CS.
DR InterPro; IPR036458; Na:dicarbo_symporter_sf.
DR Pfam; PF00375; SDF; 1.
DR SUPFAM; SSF118215; SSF118215; 1.
DR PROSITE; PS00713; NA_DICARBOXYL_SYMP_1; 1.
DR PROSITE; PS00714; NA_DICARBOXYL_SYMP_2; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Glycoprotein; Membrane; Reference proteome; Symport;
KW Transmembrane; Transmembrane helix; Transport.
FT CHAIN 1..560
FT /note="Excitatory amino acid transporter 5"
FT /id="PRO_0000202073"
FT TOPO_DOM 1..16
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 17..37
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 60..80
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 94..114
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 115..216
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 217..237
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 260..280
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 300..320
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 330..350
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 372..392
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 414..434
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 457..477
FT /note="Helical"
FT /evidence="ECO:0000255"
FT CARBOHYD 191
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VAR_SEQ 145..158
FT /note="NMFPANLVEATFKQ -> QKEESWRNGPKGPG (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_056560"
FT VAR_SEQ 159..560
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_056561"
FT VARIANT 41
FT /note="R -> C (in a colorectal cancer sample; somatic
FT mutation; dbSNP:rs375136400)"
FT /evidence="ECO:0000269|PubMed:16959974"
FT /id="VAR_035707"
FT VARIANT 537
FT /note="Q -> R (in dbSNP:rs1288401)"
FT /evidence="ECO:0000269|PubMed:15489334,
FT ECO:0000269|PubMed:9108121, ECO:0000269|Ref.3"
FT /id="VAR_052488"
FT CONFLICT 5
FT /note="A -> T (in Ref. 1; AAB53971)"
FT /evidence="ECO:0000305"
FT CONFLICT 70
FT /note="V -> F (in Ref. 1; AAB53971)"
FT /evidence="ECO:0000305"
FT CONFLICT 244
FT /note="A -> G (in Ref. 1; AAB53971)"
FT /evidence="ECO:0000305"
FT CONFLICT 412
FT /note="A -> G (in Ref. 1; AAB53971)"
FT /evidence="ECO:0000305"
FT CONFLICT 449
FT /note="A -> G (in Ref. 1; AAB53971)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 560 AA; 60658 MW; 17C527B745BB01E6 CRC64;
MVPHAILARG RDVCRRNGLL ILSVLSVIVG CLLGFFLRTR RLSPQEISYF QFPGELLMRM
LKMMILPLVV SSLMSGLASL DAKTSSRLGV LTVAYYLWTT FMAVIVGIFM VSIIHPGSAA
QKETTEQSGK PIMSSADALL DLIRNMFPAN LVEATFKQYR TKTTPVVKSP KVAPEEAPPR
RILIYGVQEE NGSHVQNFAL DLTPPPEVVY KSEPGTSDGM NVLGIVFFSA TMGIMLGRMG
DSGAPLVSFC QCLNESVMKI VAVAVWYFPF GIVFLIAGKI LEMDDPRAVG KKLGFYSVTV
VCGLVLHGLF ILPLLYFFIT KKNPIVFIRG ILQALLIALA TSSSSATLPI TFKCLLENNH
IDRRIARFVL PVGATINMDG TALYEAVAAI FIAQVNNYEL DFGQIITISI TATAASIGAA
GIPQAGLVTM VIVLTSVGLP TDDITLIIAV DWALDRFRTM INVLGDALAA GIMAHICRKD
FARDTGTEKL LPCETKPVSL QEIVAAQQNG CVKSVAEASE LTLGPTCPHH VPVQVEQDEE
LPAASLNHCT IQISELETNV
