CTR4_HUMAN
ID CTR4_HUMAN Reviewed; 635 AA.
AC O43246; Q0P5U2; Q3KNQ6; Q4VC45; Q6IBY8; Q96H88;
DT 24-JAN-2001, integrated into UniProtKB/Swiss-Prot.
DT 15-MAR-2005, sequence version 3.
DT 03-AUG-2022, entry version 175.
DE RecName: Full=Cationic amino acid transporter 4;
DE Short=CAT-4;
DE Short=CAT4;
DE AltName: Full=Solute carrier family 7 member 4;
GN Name=SLC7A4;
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].
RC TISSUE=Placenta;
RX PubMed=9598310; DOI=10.1006/geno.1998.5252;
RA Sperandeo M.P., Borsani G., Incerti B., Zollo M., Rossi E., Zuffardi O.,
RA Castaldo P., Taglialatela M., Andria G., Sebastio G.;
RT "The gene encoding a cationic amino acid transporter (SLC7A4) maps to the
RT region deleted in the velocardiofacial syndrome.";
RL Genomics 49:230-236(1998).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANTS ILE-28 AND THR-349.
RX PubMed=15461802; DOI=10.1186/gb-2004-5-10-r84;
RA Collins J.E., Wright C.L., Edwards C.A., Davis M.P., Grinham J.A.,
RA Cole C.G., Goward M.E., Aguado B., Mallya M., Mokrab Y., Huckle E.J.,
RA Beare D.M., Dunham I.;
RT "A genome annotation-driven approach to cloning the human ORFeome.";
RL Genome Biol. 5:R84.1-R84.11(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANTS ILE-28 AND THR-349.
RC TISSUE=Brain, and Placenta;
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: Involved in the transport of the cationic amino acids
CC (arginine, lysine and ornithine).
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane
CC protein {ECO:0000305}.
CC -!- SIMILARITY: Belongs to the amino acid-polyamine-organocation (APC)
CC superfamily. Cationic amino acid transporter (CAT) (TC 2.A.3.3) family.
CC {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; AJ000730; CAA04263.1; -; mRNA.
DR EMBL; CR456580; CAG30466.1; -; mRNA.
DR EMBL; BC008814; AAH08814.1; -; mRNA.
DR EMBL; BC062565; AAH62565.1; -; mRNA.
DR EMBL; BC107160; AAI07161.1; -; mRNA.
DR EMBL; BC107161; AAI07162.1; -; mRNA.
DR CCDS; CCDS33608.1; -.
DR RefSeq; NP_004164.2; NM_004173.2.
DR AlphaFoldDB; O43246; -.
DR SMR; O43246; -.
DR BioGRID; 112435; 1.
DR IntAct; O43246; 1.
DR STRING; 9606.ENSP00000372390; -.
DR DrugBank; DB00125; Arginine.
DR DrugBank; DB00123; Lysine.
DR TCDB; 2.A.3.3.6; the amino acid-polyamine-organocation (apc) family.
DR GlyGen; O43246; 5 sites.
DR iPTMnet; O43246; -.
DR PhosphoSitePlus; O43246; -.
DR BioMuta; SLC7A4; -.
DR MassIVE; O43246; -.
DR PaxDb; O43246; -.
DR PeptideAtlas; O43246; -.
DR PRIDE; O43246; -.
DR ProteomicsDB; 48823; -.
DR Antibodypedia; 23447; 98 antibodies from 25 providers.
DR DNASU; 6545; -.
DR Ensembl; ENST00000382932.3; ENSP00000372390.2; ENSG00000099960.13.
DR Ensembl; ENST00000403586.5; ENSP00000384278.1; ENSG00000099960.13.
DR GeneID; 6545; -.
DR KEGG; hsa:6545; -.
DR MANE-Select; ENST00000382932.3; ENSP00000372390.2; NM_004173.3; NP_004164.2.
DR UCSC; uc002zud.3; human.
DR CTD; 6545; -.
DR DisGeNET; 6545; -.
DR GeneCards; SLC7A4; -.
DR HGNC; HGNC:11062; SLC7A4.
DR HPA; ENSG00000099960; Tissue enhanced (testis).
DR MIM; 603752; gene.
DR neXtProt; NX_O43246; -.
DR OpenTargets; ENSG00000099960; -.
DR PharmGKB; PA35922; -.
DR VEuPathDB; HostDB:ENSG00000099960; -.
DR eggNOG; KOG1286; Eukaryota.
DR GeneTree; ENSGT00940000154637; -.
DR HOGENOM; CLU_007946_15_7_1; -.
DR InParanoid; O43246; -.
DR OMA; VGTWQVP; -.
DR OrthoDB; 600052at2759; -.
DR PhylomeDB; O43246; -.
DR TreeFam; TF315212; -.
DR PathwayCommons; O43246; -.
DR SignaLink; O43246; -.
DR BioGRID-ORCS; 6545; 23 hits in 1069 CRISPR screens.
DR GeneWiki; SLC7A4; -.
DR GenomeRNAi; 6545; -.
DR Pharos; O43246; Tbio.
DR PRO; PR:O43246; -.
DR Proteomes; UP000005640; Chromosome 22.
DR RNAct; O43246; protein.
DR Bgee; ENSG00000099960; Expressed in lower esophagus mucosa and 91 other tissues.
DR ExpressionAtlas; O43246; baseline and differential.
DR Genevisible; O43246; HS.
DR GO; GO:0016021; C:integral component of membrane; TAS:ProtInc.
DR GO; GO:0005886; C:plasma membrane; IBA:GO_Central.
DR GO; GO:0015171; F:amino acid transmembrane transporter activity; IBA:GO_Central.
DR GO; GO:0015174; F:basic amino acid transmembrane transporter activity; TAS:ProtInc.
DR GO; GO:0006865; P:amino acid transport; IBA:GO_Central.
DR InterPro; IPR002293; AA/rel_permease1.
DR InterPro; IPR029485; CAT_C.
DR Pfam; PF13520; AA_permease_2; 1.
DR Pfam; PF13906; AA_permease_C; 1.
PE 2: Evidence at transcript level;
KW Amino-acid transport; Glycoprotein; Membrane; Phosphoprotein;
KW Reference proteome; Transmembrane; Transmembrane helix; Transport.
FT CHAIN 1..635
FT /note="Cationic amino acid transporter 4"
FT /id="PRO_0000054269"
FT TRANSMEM 42..62
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 66..86
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 113..133
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 197..217
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 229..249
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 270..290
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 318..338
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 365..385
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 391..411
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 478..498
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 508..528
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 539..559
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 567..587
FT /note="Helical"
FT /evidence="ECO:0000255"
FT MOD_RES 422
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q8BLQ7"
FT MOD_RES 427
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q8BLQ7"
FT CARBOHYD 151
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 195
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 221
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 500
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 601
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VARIANT 28
FT /note="T -> I (in dbSNP:rs2072550)"
FT /evidence="ECO:0000269|PubMed:15461802,
FT ECO:0000269|PubMed:15489334"
FT /id="VAR_048155"
FT VARIANT 349
FT /note="A -> T (in dbSNP:rs2270384)"
FT /evidence="ECO:0000269|PubMed:15461802,
FT ECO:0000269|PubMed:15489334"
FT /id="VAR_048156"
FT VARIANT 608
FT /note="F -> Y (in dbSNP:rs55700350)"
FT /id="VAR_060989"
FT CONFLICT 155..192
FT /note="THVGSWQVPLLGHYPDFLAAGIILLASAFVSCGARVSS -> DPRGFLAGAP
FT PGPLPGLPGCWHHPPWPLPLSPVEPACPP (in Ref. 1; CAA04263)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 635 AA; 68268 MW; 2E36605489C6EFE9 CRC64;
MARGLPTIAS LARLCQKLNR LKPLEDSTME TSLRRCLSTL DLTLLGVGGM VGSGLYVLTG
AVAKEVAGPA VLLSFGVAAV ASLLAALCYA EFGARVPRTG SAYLFTYVSM GELWAFLIGW
NVLLEYIIGG AAVARAWSGY LDSMFSHSIR NFTETHVGSW QVPLLGHYPD FLAAGIILLA
SAFVSCGARV SSWLNHTFSA ISLLVILFIV ILGFILAQPH NWSADEGGFA PFGFSGVMAG
TASCFYAFVG FDVIAASSEE AQNPRRSVPL AIAISLAIAA GAYILVSTVL TLMVPWHSLD
PDSALADAFY QRGYRWAGFI VAAGSICAMN TVLLSLLFSL PRIVYAMAAD GLFFQVFAHV
HPRTQVPVAG TLAFGLLTAF LALLLDLESL VQFLSLGTLL AYTFVATSII VLRFQKSSPP
SSPGPASPGP LTKQQSSFSD HLQLVGTVHA SVPEPGELKP ALRPYLGFLD GYSPGAVVTW
ALGVMLASAI TIGCVLVFGN STLHLPHWGY ILLLLLTSVM FLLSLLVLGA HQQQYREDLF
QIPMVPLIPA LSIVLNICLM LKLSYLTWVR FSIWLLMGLA VYFGYGIRHS KENQRELPGL
NSTHYVVFPR GSLEETVQAM QPPSQAPAQD PGHME
