Y+L 아미노산 트랜스포터 1

SLC7A7
식별자
에일리어스	SLC7A7, LAT3, LPI, MOP-2, Y+LAT1, y+LAT-1, 용질 캐리어 패밀리7 멤버7
외부 ID	OMIM : 603593 MGI : 1337120 HomoloGene : 88701 GenCard : SLC7A7
유전자 위치(인간)
크르.	14번 염색체(인간)
끝.	22,829,820 bp
유전자 위치(마우스)
크르.	14번 염색체(쥐)
끝.	54,655,237 bp
RNA발현패턴
	상단 표시 위치:
	이차 난모세포; ; 단구; ; 제주날 점막; ; 신장세관; ; 피; ; 비장; ; 십이지장; ; 사구체; ; 후생 사구체; ; 신장;
	추가 참조 표현식 데이터
	추가 참조 표현식 데이터
유전자 존재론
분자 함수	L-아미노산전달체활성; 염기성 아미노산 트랜스막 트랜스포터 활성; 항산화제 활성; GO:0022891 막간 트랜스포터 액티비티;
셀룰러 컴포넌트	막의 적분 성분; 막; 혈장막; 혈장막의 적분 성분; 기저측 혈장막;
생물학적 과정	염기성 아미노산경막수송; 세포아미노산대사과정; 아르기닌 대사 과정 조절; 아미노산수송; 백혈구 이동; L-α-아미노산막 통과 수송; 막 통과 수송; GO:0034622 단백질 함유 복합 어셈블리;
	출처:아미고 / QuickGO
맞춤법
	9056
	20540
	ENSG00000155465
	ENSMUSG000000958
	Q9UM01
	Q9Z1K8
	NM_001126105; NM_001126106; NM_003982
NM_001253679; NM_001253680; NM_011405; NM_001379497; NM_001379498;
	NM_001379499
	NP_001119577; NP_001119578; NP_003973
NP_001240608; NP_001240609; NP_035535; NP_001366426; NP_001366427;
	NP_001366428
	위키데이터
인간 보기/편집	마우스 표시/편집

Y+L아미노산수송체1은 SLC7A7유전자에 ^[5]^[6]의해 인체 내에서 부호화되는 단백질이다.

상호 작용

SLC7A7은 SLC3A2와 ^[7]상호작용하는 것으로 나타났습니다.

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레퍼런스

^ ^a ^b ^c GRCh38: 앙상블 릴리즈 89: ENSG00000155465 - 앙상블, 2017년 5월
^ ^a ^b ^c GRCm38: 앙상블 릴리즈 89: ENSMUSG000000958 - 앙상블, 2017년 5월
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Torrents D; Estevez R; Pineda M; Fernandez E; Lloberas J; Shi YB; Zorzano A; Palacin M (January 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 (January 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.

추가 정보

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. S2CID 38960307.
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. S2CID 23833183.
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. Bibcode:2002PNAS...9916899M. 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. S2CID 24454281.

외부 링크

Lysinuric 단백질 불내증에 대한 GeneReviews/NCBI/NIH/UW 엔트리

이 막단백질 관련 물품은 그루브입니다.위키피디아를 확장함으로써 위키피디아를 도울 수 있습니다.

[refGRCh38Ensembl-1] GRCh38: 앙상블 릴리즈 89: ENSG00000155465 - 앙상블, 2017년 5월

[refGRCm38Ensembl-2] GRCm38: 앙상블 릴리즈 89: ENSMUSG000000958 - 앙상블, 2017년 5월

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid9829974-5] Torrents D; Estevez R; Pineda M; Fernandez E; Lloberas J; Shi YB; Zorzano A; Palacin M (January 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-6] "Entrez Gene: SLC7A7 solute carrier family 7 (cationic amino acid transporter, y+ system), member 7".

[pmid9878049-7] Pfeiffer, R; Rossier G; Spindler B; Meier C; Kühn L; Verrey F (January 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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Y+L 아미노산 트랜스포터 1

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