SLC7A7: Difference between revisions

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{{Use dmy dates|date=May 2013}}
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{{Infobox_gene}}
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'''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>
 
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==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==
==See also==
* [[Heterodimeric amino acid transporter]]
* [[Solute carrier family]]
* [[Solute carrier family]]
* [[Lysinuric protein intolerance]]


==References==
==References==
{{reflist|2}}
{{reflist}}


==Further reading==
==Further reading==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading  
{{PBB_Further_reading
| citations =  
| 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 |bibcode=2002PNAS...9916899M }}
*{{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}}
{{refend}}


{{membrane-protein-stub}}
{{Membrane transport proteins}}
{{Membrane transport proteins}}
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==External links==
*[https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=lpi  GeneReviews/NCBI/NIH/UW entry on Lysinuric Protein Intolerance]
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[[Category:Solute carrier family]]
[[Category:Solute carrier family]]
{{WikiDoc Sources}}
 
 
{{membrane-protein-stub}}

Latest revision as of 06:28, 10 January 2019

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

n/a

n/a

RefSeq (protein)

n/a

n/a

Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

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]

See also

References

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

Further reading


External links