SLC7A7: Difference between revisions

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Revision as of 06:36, 11 September 2017

Y+L amino acid transporter 1 is a protein that in humans is encoded by the SLC7A7 gene.^[1]^[2]

Interactions

SLC7A7 has been shown to interact with SLC3A2.^[3]

References

↑ Torrents D; Estevez R; Pineda M; Fernandez E; Lloberas J; Shi YB; Zorzano A; Palacin M (Jan 1999). "Identification and characterization of a membrane protein (y+L amino acid transporter-1) that associates with 4F2hc to encode the amino acid transport activity y+L. A candidate gene for lysinuric protein intolerance". J Biol Chem. 273 (49): 32437–45. doi:10.1074/jbc.273.49.32437. PMID 9829974.
↑ "Entrez Gene: SLC7A7 solute carrier family 7 (cationic amino acid transporter, y+ system), member 7".
↑ Pfeiffer, R; Rossier G; Spindler B; Meier C; Kühn L; Verrey F (Jan 1999). "Amino acid transport of y+L-type by heterodimers of 4F2hc/CD98 and members of the glycoprotein-associated amino acid transporter family". EMBO J. ENGLAND. 18 (1): 49–57. doi:10.1093/emboj/18.1.49. ISSN 0261-4189. PMC 1171101. PMID 9878049.

Lauteala T, Sistonen P, Savontaus ML, et al. (1997). "Lysinuric protein intolerance (LPI) gene maps to the long arm of chromosome 14". Am. J. Hum. Genet. 60 (6): 1479–86. doi:10.1086/515457. PMC 1716131. PMID 9199570.
Pfeiffer R, Rossier G, Spindler B, et al. (1999). "Amino acid transport of y+L-type by heterodimers of 4F2hc/CD98 and members of the glycoprotein-associated amino acid transporter family". EMBO J. 18 (1): 49–57. doi:10.1093/emboj/18.1.49. PMC 1171101. PMID 9878049.
Borsani G, Bassi MT, Sperandeo MP, et al. (1999). "SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance". Nat. Genet. 21 (3): 297–301. doi:10.1038/6815. PMID 10080183.
Sperandeo MP, Bassi MT, Riboni M, et al. (2000). "Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance". Am. J. Hum. Genet. 66 (1): 92–9. doi:10.1086/302700. PMC 1288352. PMID 10631139.
Mykkänen J, Torrents D, Pineda M, et al. (2000). "Functional analysis of novel mutations in y(+)LAT-1 amino acid transporter gene causing lysinuric protein intolerance (LPI)". Hum. Mol. Genet. 9 (3): 431–8. doi:10.1093/hmg/9.3.431. PMID 10655553.
Noguchi A, Shoji Y, Koizumi A, et al. (2000). "SLC7A7 genomic structure and novel variants in three Japanese lysinuric protein intolerance families". Hum. Mutat. 15 (4): 367–72. doi:10.1002/(SICI)1098-1004(200004)15:4<367::AID-HUMU9>3.0.CO;2-C. PMID 10737982.
Shoji Y, Noguchi A, Shoji Y, et al. (2003). "Five novel SLC7A7 variants and y+L gene-expression pattern in cultured lymphoblasts from Japanese patients with lysinuric protein intolerance". Hum. Mutat. 20 (5): 375–81. doi:10.1002/humu.10140. PMID 12402335.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
Mykkänen J, Toivonen M, Kleemola M, et al. (2003). "Promoter analysis of the human SLC7A7 gene encoding y+L amino acid transporter-1 (y+LAT-1)". Biochem. Biophys. Res. Commun. 301 (4): 855–61. doi:10.1016/S0006-291X(03)00054-8. PMID 12589791.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
Sperandeo MP, Paladino S, Maiuri L, et al. (2005). "A y(+)LAT-1 mutant protein interferes with y(+)LAT-2 activity: implications for the molecular pathogenesis of lysinuric protein intolerance". Eur. J. Hum. Genet. 13 (5): 628–34. doi:10.1038/sj.ejhg.5201376. PMID 15756301.
Sperandeo MP, Annunziata P, Ammendola V, et al. (2006). "Lysinuric protein intolerance: identification and functional analysis of mutations of the SLC7A7 gene". Hum. Mutat. 25 (4): 410. doi:10.1002/humu.9323. PMID 15776427.
Puomila K; Simell O; Huoponen K; Mykkänen J (2007). "Two alternative promoters regulate the expression of lysinuric protein intolerance gene SLC7A7". Mol. Genet. Metab. 90 (3): 298–306. doi:10.1016/j.ymgme.2006.11.007. PMID 17196863.
Cimbalistiene L; Lehnert W; Huoponen K; Kucinskas V (2007). "First reported case of lysinuric protein intolerance (LPI) in Lithuania, confirmed biochemically and by DNA analysis". J. Appl. Genet. 48 (3): 277–80. doi:10.1007/BF03195224. PMID 17666782.

External links

GeneReviews/NCBI/NIH/UW entry on Lysinuric Protein Intolerance

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[pmid9829974-1] Torrents D; Estevez R; Pineda M; Fernandez E; Lloberas J; Shi YB; Zorzano A; Palacin M (Jan 1999). "Identification and characterization of a membrane protein (y+L amino acid transporter-1) that associates with 4F2hc to encode the amino acid transport activity y+L. A candidate gene for lysinuric protein intolerance". J Biol Chem. 273 (49): 32437–45. doi:10.1074/jbc.273.49.32437. PMID 9829974.

[entrez-2] "Entrez Gene: SLC7A7 solute carrier family 7 (cationic amino acid transporter, y+ system), member 7".

[pmid9878049-3] Pfeiffer, R; Rossier G; Spindler B; Meier C; Kühn L; Verrey F (Jan 1999). "Amino acid transport of y+L-type by heterodimers of 4F2hc/CD98 and members of the glycoprotein-associated amino acid transporter family". EMBO J. ENGLAND. 18 (1): 49–57. doi:10.1093/emboj/18.1.49. ISSN 0261-4189. PMC 1171101. PMID 9878049.

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[2]

[3]

@@ Line 1: / Line 1: @@
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+{{Use dmy dates|date=May 2013}}
-{{PBB_Controls
+{{Infobox_gene}}
-| update_page = yes
+'''Y+L amino acid transporter 1''' is a [[protein]] that in humans is encoded by the ''SLC7A7'' [[gene]].<ref name="pmid9829974">{{cite journal |author1=Torrents D |author2=Estevez R |author3=Pineda M |author4=Fernandez E |author5=Lloberas J |author6=Shi YB |author7=Zorzano A |author8=Palacin M | title = Identification and characterization of a membrane protein (y+L amino acid transporter-1) that associates with 4F2hc to encode the amino acid transport activity y+L. A candidate gene for lysinuric protein intolerance | journal = J Biol Chem | volume = 273 | issue = 49 | pages = 32437–45 | date = Jan 1999 | pmid = 9829974 | pmc =  | doi =10.1074/jbc.273.49.32437  }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: SLC7A7 solute carrier family 7 (cationic amino acid transporter, y+ system), member 7| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=9056| accessdate = }}</ref>
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-{{GNF_Protein_box
- | image =
- | image_source =
- | PDB =
- | Name = Solute carrier family 7 (cationic amino acid transporter, y+ system), member 7
- | HGNCid = 11065
- | Symbol = SLC7A7
- | AltSymbols =; LAT3; LPI; Y+LAT1; y+LAT-1
- | OMIM = 603593
- | ECnumber =
- | Homologene = 88701
- | MGIid = 1337120
- | GeneAtlas_image1 = PBB_GE_SLC7A7_204588_s_at_tn.png
- | Function = {{GNF_GO|id=GO:0005279 |text = amine transmembrane transporter activity}} {{GNF_GO|id=GO:0005286 |text = basic amino acid transmembrane transporter activity}}
- | Component = {{GNF_GO|id=GO:0005887 |text = integral to plasma membrane}} {{GNF_GO|id=GO:0016020 |text = membrane}}
- | Process = {{GNF_GO|id=GO:0006461 |text = protein complex assembly}} {{GNF_GO|id=GO:0006520 |text = amino acid metabolic process}} {{GNF_GO|id=GO:0006810 |text = transport}} {{GNF_GO|id=GO:0006865 |text = amino acid transport}}
- | Orthologs = {{GNF_Ortholog_box
-    | Hs_EntrezGene = 9056
-    | Hs_Ensembl = ENSG00000155465
-    | Hs_RefseqProtein = NP_003973
-    | Hs_RefseqmRNA = NM_003982
-    | Hs_GenLoc_db =
-    | Hs_GenLoc_chr = 14
-    | Hs_GenLoc_start = 22312287
-    | Hs_GenLoc_end = 22358814
-    | Hs_Uniprot = Q9UM01
-    | Mm_EntrezGene = 20540
-    | Mm_Ensembl = ENSMUSG00000000958
-    | Mm_RefseqmRNA = NM_011405
-    | Mm_RefseqProtein = NP_035535
-    | Mm_GenLoc_db =
-    | Mm_GenLoc_chr = 14
-    | Mm_GenLoc_start = 53324496
-    | Mm_GenLoc_end = 53363665
-    | Mm_Uniprot =
-  }}
-}}
-'''Solute carrier family 7 (cationic amino acid transporter, y+ system), member 7''', also known as '''SLC7A7''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: SLC7A7 solute carrier family 7 (cationic amino acid transporter, y+ system), member 7| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=9056| accessdate = }}</ref>
-<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
 {{PBB_Summary
 | section_title =
 | summary_text =
 }}
+==Interactions==
+SLC7A7 has been shown to [[Protein-protein interaction|interact]] with [[SLC3A2]].<ref name=pmid9878049>{{cite journal |last=Pfeiffer |first=R |authorlink= |author2=Rossier G |author3=Spindler B |author4=Meier C |author5=Kühn L |author6=Verrey F  |date=Jan 1999 |title=Amino acid transport of y+L-type by heterodimers of 4F2hc/CD98 and members of the glycoprotein-associated amino acid transporter family |journal=EMBO J. |volume=18 |issue=1 |pages=49–57 |publisher= |location = ENGLAND| issn = 0261-4189| pmid = 9878049 |doi = 10.1093/emboj/18.1.49 | bibcode = | oclc =| id = | url = | language = | format = | accessdate = | laysummary = | laysource = | laydate = | quote = |pmc=1171101 }}</ref>
 ==See also==
+* [[Heterodimeric amino acid transporter]]
 * [[Solute carrier family]]
+* [[Lysinuric protein intolerance]]
 ==References==
-{{reflist|2}}
+{{reflist}}
 ==Further reading==
 {{refbegin | 2}}
 {{PBB_Further_reading
 | citations =
-*{{cite journal  | author=Lauteala T, Sistonen P, Savontaus ML, ''et al.'' |title=Lysinuric protein intolerance (LPI) gene maps to the long arm of chromosome 14. |journal=Am. J. Hum. Genet. |volume=60 |issue= 6 |pages= 1479-86 |year= 1997 |pmid= 9199570 |doi=  }}
+*{{cite journal   |vauthors=Lauteala T, Sistonen P, Savontaus ML, etal |title=Lysinuric protein intolerance (LPI) gene maps to the long arm of chromosome 14. |journal=Am. J. Hum. Genet. |volume=60 |issue= 6 |pages= 1479–86 |year= 1997 |pmid= 9199570 |doi=10.1086/515457  | pmc=1716131  }}
-*{{cite journal  | author=Torrents D, Estévez R, Pineda M, ''et al.'' |title=Identification and characterization of a membrane protein (y+L amino acid transporter-1) that associates with 4F2hc to encode the amino acid transport activity y+L. A candidate gene for lysinuric protein intolerance. |journal=J. Biol. Chem. |volume=273 |issue= 49 |pages= 32437-45 |year= 1999 |pmid= 9829974 |doi=  }}
+*{{cite journal   |vauthors=Pfeiffer R, Rossier G, Spindler B, etal |title=Amino acid transport of y+L-type by heterodimers of 4F2hc/CD98 and members of the glycoprotein-associated amino acid transporter family. |journal=EMBO J. |volume=18 |issue= 1 |pages= 49–57 |year= 1999 |pmid= 9878049 |doi= 10.1093/emboj/18.1.49  | pmc=1171101 }}
-*{{cite journal  | author=Pfeiffer R, Rossier G, Spindler B, ''et al.'' |title=Amino acid transport of y+L-type by heterodimers of 4F2hc/CD98 and members of the glycoprotein-associated amino acid transporter family. |journal=EMBO J. |volume=18 |issue= 1 |pages= 49-57 |year= 1999 |pmid= 9878049 |doi= 10.1093/emboj/18.1.49 }}
+*{{cite journal   |vauthors=Borsani G, Bassi MT, Sperandeo MP, etal |title=SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance. |journal=Nat. Genet. |volume=21 |issue= 3 |pages= 297–301 |year= 1999 |pmid= 10080183 |doi= 10.1038/6815 }}
-*{{cite journal  | author=Borsani G, Bassi MT, Sperandeo MP, ''et al.'' |title=SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance. |journal=Nat. Genet. |volume=21 |issue= 3 |pages= 297-301 |year= 1999 |pmid= 10080183 |doi= 10.1038/6815 }}
+*{{cite journal   |vauthors=Sperandeo MP, Bassi MT, Riboni M, etal |title=Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance. |journal=Am. J. Hum. Genet. |volume=66 |issue= 1 |pages= 92–9 |year= 2000 |pmid= 10631139 |doi=10.1086/302700  | pmc=1288352  }}
-*{{cite journal  | author=Sperandeo MP, Bassi MT, Riboni M, ''et al.'' |title=Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance. |journal=Am. J. Hum. Genet. |volume=66 |issue= 1 |pages= 92-9 |year= 2000 |pmid= 10631139 |doi=  }}
+*{{cite journal   |vauthors=Mykkänen J, Torrents D, Pineda M, etal |title=Functional analysis of novel mutations in y(+)LAT-1 amino acid transporter gene causing lysinuric protein intolerance (LPI). |journal=Hum. Mol. Genet. |volume=9 |issue= 3 |pages= 431–8 |year= 2000 |pmid= 10655553 |doi=10.1093/hmg/9.3.431  }}
-*{{cite journal  | author=Mykkänen J, Torrents D, Pineda M, ''et al.'' |title=Functional analysis of novel mutations in y(+)LAT-1 amino acid transporter gene causing lysinuric protein intolerance (LPI). |journal=Hum. Mol. Genet. |volume=9 |issue= 3 |pages= 431-8 |year= 2000 |pmid= 10655553 |doi=  }}
+*{{cite journal   |vauthors=Noguchi A, Shoji Y, Koizumi A, etal |title=SLC7A7 genomic structure and novel variants in three Japanese lysinuric protein intolerance families. |journal=Hum. Mutat. |volume=15 |issue= 4 |pages= 367–72 |year= 2000 |pmid= 10737982 |doi= 10.1002/(SICI)1098-1004(200004)15:4<367::AID-HUMU9>3.0.CO;2-C }}
-*{{cite journal  | author=Noguchi A, Shoji Y, Koizumi A, ''et al.'' |title=SLC7A7 genomic structure and novel variants in three Japanese lysinuric protein intolerance families. |journal=Hum. Mutat. |volume=15 |issue= 4 |pages= 367-72 |year= 2000 |pmid= 10737982 |doi= 10.1002/(SICI)1098-1004(200004)15:4<367::AID-HUMU9>3.0.CO;2-C }}
+*{{cite journal   |vauthors=Shoji Y, Noguchi A, Shoji Y, etal |title=Five novel SLC7A7 variants and y+L gene-expression pattern in cultured lymphoblasts from Japanese patients with lysinuric protein intolerance. |journal=Hum. Mutat. |volume=20 |issue= 5 |pages= 375–81 |year= 2003 |pmid= 12402335 |doi= 10.1002/humu.10140 }}
-*{{cite journal  | author=Shoji Y, Noguchi A, Shoji Y, ''et al.'' |title=Five novel SLC7A7 variants and y+L gene-expression pattern in cultured lymphoblasts from Japanese patients with lysinuric protein intolerance. |journal=Hum. Mutat. |volume=20 |issue= 5 |pages= 375-81 |year= 2003 |pmid= 12402335 |doi= 10.1002/humu.10140 }}
+*{{cite journal   |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899  | pmc=139241 }}
-*{{cite journal  | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
+*{{cite journal   |vauthors=Mykkänen J, Toivonen M, Kleemola M, etal |title=Promoter analysis of the human SLC7A7 gene encoding y+L amino acid transporter-1 (y+LAT-1). |journal=Biochem. Biophys. Res. Commun. |volume=301 |issue= 4 |pages= 855–61 |year= 2003 |pmid= 12589791 |doi=10.1016/S0006-291X(03)00054-8  }}
-*{{cite journal  | author=Mykkänen J, Toivonen M, Kleemola M, ''et al.'' |title=Promoter analysis of the human SLC7A7 gene encoding y+L amino acid transporter-1 (y+LAT-1). |journal=Biochem. Biophys. Res. Commun. |volume=301 |issue= 4 |pages= 855-61 |year= 2003 |pmid= 12589791 |doi=  }}
+*{{cite journal   |vauthors=Gerhard DS, Wagner L, Feingold EA, etal |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504  | pmc=528928 }}
-*{{cite journal  | author=Gerhard DS, Wagner L, Feingold EA, ''et al.'' |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121-7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 }}
+*{{cite journal   |vauthors=Sperandeo MP, Paladino S, Maiuri L, etal |title=A y(+)LAT-1 mutant protein interferes with y(+)LAT-2 activity: implications for the molecular pathogenesis of lysinuric protein intolerance. |journal=Eur. J. Hum. Genet. |volume=13 |issue= 5 |pages= 628–34 |year= 2005 |pmid= 15756301 |doi= 10.1038/sj.ejhg.5201376 }}
-*{{cite journal  | author=Sperandeo MP, Paladino S, Maiuri L, ''et al.'' |title=A y(+)LAT-1 mutant protein interferes with y(+)LAT-2 activity: implications for the molecular pathogenesis of lysinuric protein intolerance. |journal=Eur. J. Hum. Genet. |volume=13 |issue= 5 |pages= 628-34 |year= 2005 |pmid= 15756301 |doi= 10.1038/sj.ejhg.5201376 }}
+*{{cite journal   |vauthors=Sperandeo MP, Annunziata P, Ammendola V, etal |title=Lysinuric protein intolerance: identification and functional analysis of mutations of the SLC7A7 gene. |journal=Hum. Mutat. |volume=25 |issue= 4 |pages= 410 |year= 2006 |pmid= 15776427 |doi= 10.1002/humu.9323 }}
-*{{cite journal  | author=Sperandeo MP, Annunziata P, Ammendola V, ''et al.'' |title=Lysinuric protein intolerance: identification and functional analysis of mutations of the SLC7A7 gene. |journal=Hum. Mutat. |volume=25 |issue= 4 |pages= 410 |year= 2006 |pmid= 15776427 |doi= 10.1002/humu.9323 }}
+*{{cite journal  |author1=Puomila K |author2=Simell O |author3=Huoponen K |author4=Mykkänen J |title=Two alternative promoters regulate the expression of lysinuric protein intolerance gene SLC7A7. |journal=Mol. Genet. Metab. |volume=90 |issue= 3 |pages= 298–306 |year= 2007 |pmid= 17196863 |doi= 10.1016/j.ymgme.2006.11.007 }}
-*{{cite journal  | author=Puomila K, Simell O, Huoponen K, Mykkänen J |title=Two alternative promoters regulate the expression of lysinuric protein intolerance gene SLC7A7. |journal=Mol. Genet. Metab. |volume=90 |issue= 3 |pages= 298-306 |year= 2007 |pmid= 17196863 |doi= 10.1016/j.ymgme.2006.11.007 }}
+*{{cite journal  |author1=Cimbalistiene L |author2=Lehnert W |author3=Huoponen K |author4=Kucinskas V |title=First reported case of lysinuric protein intolerance (LPI) in Lithuania, confirmed biochemically and by DNA analysis. |journal=J. Appl. Genet. |volume=48 |issue= 3 |pages= 277–80 |year= 2007 |pmid= 17666782 |doi=10.1007/BF03195224  }}
-*{{cite journal  | author=Cimbalistiene L, Lehnert W, Huoponen K, Kucinskas V |title=First reported case of lysinuric protein intolerance (LPI) in Lithuania, confirmed biochemically and by DNA analysis. |journal=J. Appl. Genet. |volume=48 |issue= 3 |pages= 277-80 |year= 2007 |pmid= 17666782 |doi=  }}
 }}
 {{refend}}
-{{membrane-protein-stub}}
 {{Membrane transport proteins}}
+<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
+==External links==
+*[https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=lpi  GeneReviews/NCBI/NIH/UW entry on Lysinuric Protein Intolerance]
+{{PBB_Controls
+| update_page = yes
+| require_manual_inspection = no
+| update_protein_box = yes
+| update_summary = yes
+| update_citations = yes
+}}
+{{DEFAULTSORT:Slc7a7}}
 [[Category:Solute carrier family]]
-{{WikiDoc Sources}}
+{{membrane-protein-stub}}

SLC7A7: Difference between revisions

Revision as of 06:36, 11 September 2017

Contents

Interactions

See also

References

Further reading

External links

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