중성아미노산수송체 A 는 SLC1A4 [5] [6] [7] 유전자 에 의해 인체 내에서 암호화되는 단백질 이다.
기능. 운반체는 L-serine, L-alanine, L-cysteine 및 L-threonine의 운반을 담당한다.
병리학 유전자의 돌연변이는 경련성 사지마비, 얇은 뇌량, 그리고 진행성 소두증이라고 불리는 질병을 일으킨다. 이 질환은 상염색체 열성적인 방식으로 유전된다.
상호 작용 멜라노사이트 세포에서 SLC1A4 유전자 발현은 MITF에 [8] 의해 조절될 수 있다.
「 」를 참조해 주세요. 레퍼런스 ^ a b c GRCh38: 앙상블 릴리즈 89: ENSG00000115902 - 앙상블 , 2017년 5월^ a b c GRCm38: 앙상블 릴리즈 89: ENSMUSG000020142 - 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 .^ Hofmann K, Duker M, Fink T, Lichter P, Stoffel W (Apr 1995). "Human neutral amino acid transporter ASCT1: structure of the gene (SLC1A4) and localization to chromosome 2p13-p15". Genomics . 24 (1): 20–6. doi :10.1006/geno.1994.1577 . PMID 7896285 . ^ Zerangue N, Kavanaugh MP (Dec 1996). "ASCT-1 is a neutral amino acid exchanger with chloride channel activity" . J Biol Chem . 271 (45): 27991–4. doi :10.1074/jbc.271.45.27991 PMID 8910405 . ^ "Entrez Gene: SLC1A4 solute carrier family 1 (glutamate/neutral amino acid transporter), member 4" .^ Hoek KS, Schlegel NC, Eichhoff OM, et al. (2008). "Novel MITF targets identified using a two-step DNA microarray strategy" . Pigment Cell Melanoma Res . 21 (6): 665–76. doi :10.1111/j.1755-148X.2008.00505.x PMID 19067971 . S2CID 24698373 . 추가 정보 Arriza JL, Kavanaugh MP, Fairman WA, et al. (1993). "Cloning and expression of a human neutral amino acid transporter with structural similarity to the glutamate transporter gene family" . J. Biol. Chem . 268 (21): 15329–32. doi :10.1016/S0021-9258(18)82257-8 PMID 8101838 . Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene . 138 (1–2): 171–4. doi :10.1016/0378-1119(94)90802-8 . PMID 8125298 . Shafqat S, Tamarappoo BK, Kilberg MS, et al. (1993). "Cloning and expression of a novel Na(+)-dependent neutral amino acid transporter structurally related to mammalian Na+/glutamate cotransporters" . J. Biol. Chem . 268 (21): 15351–5. doi :10.1016/S0021-9258(18)82263-3 PMID 8340364 . Tamarappoo BK, McDonald KK, Kilberg MS (1996). "Expressed human hippocampal ASCT1 amino acid transporter exhibits a pH-dependent change in substrate specificity" . Biochim. Biophys. Acta . 1279 (2): 131–6. doi :10.1016/0005-2736(95)00259-6 PMID 8603078 . Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene . 200 (1–2): 149–56. doi :10.1016/S0378-1119(97)00411-3 . PMID 9373149 . Marin M, Tailor CS, Nouri A, Kabat D (2000). "Sodium-dependent neutral amino acid transporter type 1 is an auxiliary receptor for baboon endogenous retrovirus" . J. Virol . 74 (17): 8085–93. doi :10.1128/JVI.74.17.8085-8093.2000 . PMC 112341 PMID 10933718 . Younes M, Pathak M, Finnie D, et al. (2001). "Expression of the neutral amino acids transporter ASCT1 in esophageal carcinomas". Anticancer Res . 20 (5C): 3775–9. PMID 11268453 . Pinilla J, Barber A, Lostao MP (2002). "Active transport of alanine by the neutral amino-acid exchanger ASCT1". Can. J. Physiol. Pharmacol . 79 (12): 1023–9. doi :10.1139/cjpp-79-12-1023 . PMID 11824937 . Lavillette D, Marin M, Ruggieri A, et al. (2002). "The envelope glycoprotein of human endogenous retrovirus type W uses a divergent family of amino acid transporters/cell surface receptors" . J. Virol . 76 (13): 6442–52. doi :10.1128/JVI.76.13.6442-6452.2002 . PMC 136247 PMID 12050356 . 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 . Marin M, Lavillette D, Kelly SM, Kabat D (2003). "N-linked glycosylation and sequence changes in a critical negative control region of the ASCT1 and ASCT2 neutral amino acid transporters determine their retroviral receptor functions" . J. Virol . 77 (5): 2936–45. doi :10.1128/JVI.77.5.2936-2945.2003 . PMC 149750 PMID 12584318 . 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 . Hillier LW, Graves TA, Fulton RS, et al. (2005). "Generation and annotation of the DNA sequences of human chromosomes 2 and 4" . Nature . 434 (7034): 724–31. Bibcode :2005Natur.434..724H . doi :10.1038/nature03466 PMID 15815621 . Chi A, Valencia JC, Hu ZZ, et al. (2007). "Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes". J. Proteome Res . 5 (11): 3135–44. doi :10.1021/pr060363j . PMID 17081065 . 이 기사에는 미국 국립 의학 도서관 (미국 국립 의학 도서관 )의 공공 도메인 텍스트가 포함되어 있습니다.
그룹별
SLC1 ~ 10
(1): (2): (3): (4): (5): (6): (7): (8): (9): (10):
SLC11–20
(11): (12): (13): (14): (15): (16): (17): (18): (19): (20):
SLC21~30
(21): (22): (23): (24): (25): (26): (27): (28): (29): (30):
SLC31~40
(31): (32): (33): (34): (35): (36): (37): (38): (39): (40):
SLC41~48
(41): (42): (43): (44): (45): (46): (47): (48):
