엽산 트랜스포터 1

SLC19A1
식별자
에일리어스	SLC19A1, CHMD, FOLT, IFC1, RFC1, 용질 캐리어 패밀리19 멤버1, IFC-1, RFC, hRFC, RFT-1, hMEGAF
외부 ID	OMIM : 600424 MGI : 103182 HomoloGene : 57139 GenCard : SLC19A1
유전자 위치(인간)
크르.	21번 염색체(인간)
끝.	45,573,194 bp
유전자 위치(마우스)
크르.	10번 염색체(쥐)
끝.	77,061,002 bp
RNA발현패턴
	상단 표시 위치:
	제주날 점막; ; 피; ; 내피 세포; ; 망막 색소 상피; ; 십이지장; ; 담낭; ; 자궁내막간질세포; ; 오른쪽 폐; ; 창호; ; 간우엽;
	상단 표시 위치:
	파네스 세포; ; 망막 색소 상피; ; 섬모체; ; 신장; ; 소장의 리베르쿤 지하실; ; 신장 외수질; ; 십이지장; ; 홍채; ; 갈색 지방 조직; ; 노른자낭;
	추가 참조 표현식 데이터
	; ; ; ;
	추가 참조 표현식 데이터
유전자 존재론
분자 함수	엽산 결합; 메트렉세이트막전달체활성; 비타민막전달활성; 엽산전달체활성; 엽산: 음이온 안티포터 액티비티;
셀룰러 컴포넌트	막의 적분 성분; 혈장막의 적분 성분; 꼭대기 플라즈마막; 막; 기저측 혈장막; 혈장막;
생물학적 과정	엽산 대사 과정; 엽산막 통과 수송; 엽산 수송; 메트렉세이트 수송; 비타민 수송; 혈장막을 가로지르는 엽산 수입; 막 통과 수송; 비타민경막수송;
	출처:아미고 / QuickGO
맞춤법
	6573
	20509
	ENSG00000173638
	ENSMUSG00000001436
	P41440
	P41438
NM_001205206; NM_001205207; NM_003056; NM_194255; NM_001352510;
	NM_001352511; NM_001352512
	NM_001199271; NM_031196
NP_001192135; NP_001192136; NP_919231; NP_001339439; NP_001339440;
	NP_001339441
	NP_001186200; NP_112473
	위키데이터
인간 보기/편집	마우스 표시/편집

엽산수송체 1은 SLC19A1 ^[5]유전자에 의해 인체 내에서 코드되는 단백질이다.

기능.

포유류 세포로의 엽산 화합물 수송은 수용체 매개(엽산 수용체 1 참조) 또는 운반체 매개 메커니즘을 통해 발생할 수 있다.이 두 메커니즘 사이의 기능적 배위는 특정 세포 유형에서 엽산 흡수의 방법으로 제안되었다.MTX(Methotrexate)는 운반체 매개흡수계에 의해 활발하게 운반되는 항균성 화학요법제이다.RFC1은 세포 ^[6]내 엽산 농도를 유지하는 역할을 한다.SLC19A1은 또한 면역 세컨드 메신저 2'3'-cGAMP를 ^[7]운반하는 것으로 나타났다.

임상적 의의

SLC19A1(c.80GG)의 특정 다형성을 가진 사람은 엽산 ^[8]수치가 낮다.다른 연구에서도 C.80을 소지하고 있는 사람이메토트렉세이트로 처리된 AA 다형성은 이 항각질 화학요법제의 높은 수치를 가지고 있다.따라서 환자의 유전자형에 따라 맞춤형 약물 투여가 필요할 수 있습니다.

대체 이름

환원 엽산 캐리어 1
장엽산담체1

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레퍼런스

^ ^a ^b ^c GRCh38: 앙상블 릴리즈 89: ENSG00000173638 - 앙상블, 2017년 5월
^ ^a ^b ^c GRCm38: 앙상블 릴리즈 89: ENSMUSG00000001436 - 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.
^ Lapenta V, Sossi V, Gosset P, Vayssettes C, Vitali T, Rabatel N, Tassone F, Blouin JL, Scott HS, Antonarakis SE, Créau N, Brahe C (April 1998). "Construction of a 2.5-Mb integrated physical and gene map of distal 21q22.3". Genomics. 49 (1): 1–13. doi:10.1006/geno.1997.5185. PMID 9570943.
^ "Entrez Gene: SLC19A1 solute carrier family 19 (folate transporter), member 1".
^ Ritchie, C; Cordova, AF; Hess, GT; Bassik, MC; Li, L (25 July 2019). "SLC19A1 Is an Importer of the Immunotransmitter cGAMP". Molecular Cell. 75 (2): 372–381.e5. doi:10.1016/j.molcel.2019.05.006. PMC 6711396. PMID 31126740.
^
Stanisławska-Sachadyn A, Mitchell LE, Woodside JV, Buckley PT, Kealey C, Young IS, Scott JM, Murray L, Boreham CA, McNulty H, Strain JJ, Whitehead AS (September 2009). "The reduced folate carrier (SLC19A1) c.80G>A polymorphism is associated with red cell folate concentrations among women". Annals of Human Genetics. 73 (Pt 5): 484–91. doi:10.1111/j.1469-1809.2009.00529.x. PMC 2812009. PMID 19650776.
- Kelly France (22 August 2009). "Polymorphisms Affecting Red Cell Folate Concentrations in Women could Identify Increased Risk for certain Birth Defects". PGxNews. Archived from the original on 2009-09-22.

추가 정보

Matherly LH, Hou Z, Deng Y (March 2007). "Human reduced folate carrier: translation of basic biology to cancer etiology and therapy". Cancer and Metastasis Reviews. 26 (1): 111–28. doi:10.1007/s10555-007-9046-2. PMID 17334909. S2CID 26489607.
Wong SC, Proefke SA, Bhushan A, Matherly LH (July 1995). "Isolation of human cDNAs that restore methotrexate sensitivity and reduced folate carrier activity in methotrexate transport-defective Chinese hamster ovary cells". The Journal of Biological Chemistry. 270 (29): 17468–75. doi:10.1074/jbc.270.29.17468. PMID 7615551.
Moscow JA, Gong M, He R, Sgagias MK, Dixon KH, Anzick SL, Meltzer PS, Cowan KH (September 1995). "Isolation of a gene encoding a human reduced folate carrier (RFC1) and analysis of its expression in transport-deficient, methotrexate-resistant human breast cancer cells". Cancer Research. 55 (17): 3790–4. PMID 7641195.
Yang-Feng TL, Ma YY, Liang R, Prasad PD, Leibach FH, Ganapathy V (May 1995). "Assignment of the human folate transporter gene to chromosome 21q22.3 by somatic cell hybrid analysis and in situ hybridization". Biochemical and Biophysical Research Communications. 210 (3): 874–9. doi:10.1006/bbrc.1995.1739. PMID 7763259.
Prasad PD, Ramamoorthy S, Leibach FH, Ganapathy V (January 1995). "Molecular cloning of the human placental folate transporter". Biochemical and Biophysical Research Communications. 206 (2): 681–7. doi:10.1006/bbrc.1995.1096. PMID 7826387.
Williams FM, Flintoff WF (February 1995). "Isolation of a human cDNA that complements a mutant hamster cell defective in methotrexate uptake". The Journal of Biological Chemistry. 270 (7): 2987–92. doi:10.1074/jbc.270.7.2987. PMID 7852378.
Dixon KH, Lanpher BC, Chiu J, Kelley K, Cowan KH (January 1994). "A novel cDNA restores reduced folate carrier activity and methotrexate sensitivity to transport deficient cells". The Journal of Biological Chemistry. 269 (1): 17–20. doi:10.1016/S0021-9258(17)42301-5. PMID 8276792.
Nguyen TT, Dyer DL, Dunning DD, Rubin SA, Grant KE, Said HM (March 1997). "Human intestinal folate transport: cloning, expression, and distribution of complementary RNA". Gastroenterology. 112 (3): 783–91. doi:10.1053/gast.1997.v112.pm9041240. PMID 9041240.
Lapenta V, Sossi V, Gosset P, Vayssettes C, Vitali T, Rabatel N, Tassone F, Blouin JL, Scott HS, Antonarakis SE, Créau N, Brahe C (April 1998). "Construction of a 2.5-Mb integrated physical and gene map of distal 21q22.3". Genomics. 49 (1): 1–13. doi:10.1006/geno.1997.5185. PMID 9570943.
Tolner B, Roy K, Sirotnak FM (May 1998). "Structural analysis of the human RFC-1 gene encoding a folate transporter reveals multiple promoters and alternatively spliced transcripts with 5' end heterogeneity". Gene. 211 (2): 331–41. doi:10.1016/S0378-1119(98)00123-1. PMID 9602167.
Zhang L, Wong SC, Matherly LH (November 1998). "Structure and organization of the human reduced folate carrier gene". Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression. 1442 (2–3): 389–93. doi:10.1016/s0167-4781(98)00168-7. PMID 9804996.
Ferguson PL, Flintoff WF (June 1999). "Topological and functional analysis of the human reduced folate carrier by hemagglutinin epitope insertion". The Journal of Biological Chemistry. 274 (23): 16269–78. doi:10.1074/jbc.274.23.16269. PMID 10347183.
Hattori M, Fujiyama A, Taylor TD, Watanabe H, Yada T, Park HS, Toyoda A, Ishii K, Totoki Y, Choi DK, Groner Y, Soeda E, Ohki M, Takagi T, Sakaki Y, Taudien S, Blechschmidt K, Polley A, Menzel U, Delabar J, Kumpf K, Lehmann R, Patterson D, Reichwald K, Rump A, Schillhabel M, Schudy A, Zimmermann W, Rosenthal A, Kudoh J, Schibuya K, Kawasaki K, Asakawa S, Shintani A, Sasaki T, Nagamine K, Mitsuyama S, Antonarakis SE, Minoshima S, Shimizu N, Nordsiek G, Hornischer K, Brant P, Scharfe M, Schon O, Desario A, Reichelt J, Kauer G, Blocker H, Ramser J, Beck A, Klages S, Hennig S, Riesselmann L, Dagand E, Haaf T, Wehrmeyer S, Borzym K, Gardiner K, Nizetic D, Francis F, Lehrach H, Reinhardt R, Yaspo ML (May 2000). "The DNA sequence of human chromosome 21". Nature. 405 (6784): 311–9. Bibcode:2000Natur.405..311H. doi:10.1038/35012518. PMID 10830953.
Whetstine JR, Gifford AJ, Witt T, Liu XY, Flatley RM, Norris M, Haber M, Taub JW, Ravindranath Y, Matherly LH (November 2001). "Single nucleotide polymorphisms in the human reduced folate carrier: characterization of a high-frequency G/A variant at position 80 and transport properties of the His(27) and Arg(27) carriers". Clinical Cancer Research. 7 (11): 3416–22. PMID 11705857.
Shaw GM, Lammer EJ, Zhu H, Baker MW, Neri E, Finnell RH (February 2002). "Maternal periconceptional vitamin use, genetic variation of infant reduced folate carrier (A80G), and risk of spina bifida". American Journal of Medical Genetics. 108 (1): 1–6. doi:10.1002/ajmg.10195. PMID 11857541.
Marchant JS, Subramanian VS, Parker I, Said HM (September 2002). "Intracellular trafficking and membrane targeting mechanisms of the human reduced folate carrier in Mammalian epithelial cells". The Journal of Biological Chemistry. 277 (36): 33325–33. doi:10.1074/jbc.M205955200. PMID 12087110.
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Whetstine JR, Flatley RM, Matherly LH (November 2002). "The human reduced folate carrier gene is ubiquitously and differentially expressed in normal human tissues: identification of seven non-coding exons and characterization of a novel promoter". The Biochemical Journal. 367 (Pt 3): 629–40. doi:10.1042/BJ20020512. PMC 1222932. PMID 12144527.
Liu XY, Matherly LH (August 2002). "Analysis of membrane topology of the human reduced folate carrier protein by hemagglutinin epitope insertion and scanning glycosylation insertion mutagenesis". Biochimica et Biophysica Acta (BBA) - Biomembranes. 1564 (2): 333–42. doi:10.1016/S0005-2736(02)00467-4. PMID 12175915.
Liu XY, Witt TL, Matherly LH (January 2003). "Restoration of high-level transport activity by human reduced folate carrier/ThTr1 thiamine transporter chimaeras: role of the transmembrane domain 6/7 linker region in reduced folate carrier function". The Biochemical Journal. 369 (Pt 1): 31–7. doi:10.1042/BJ20020419. PMC 1223057. PMID 12227830.

이 기사에는 미국 국립 의학 도서관(미국 국립 의학 도서관)의 공공 도메인 텍스트가 포함되어 있습니다.

[refGRCh38Ensembl-1] GRCh38: 앙상블 릴리즈 89: ENSG00000173638 - 앙상블, 2017년 5월

[refGRCm38Ensembl-2] GRCm38: 앙상블 릴리즈 89: ENSMUSG00000001436 - 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.

[pmid9570943-5] Lapenta V, Sossi V, Gosset P, Vayssettes C, Vitali T, Rabatel N, Tassone F, Blouin JL, Scott HS, Antonarakis SE, Créau N, Brahe C (April 1998). "Construction of a 2.5-Mb integrated physical and gene map of distal 21q22.3". Genomics. 49 (1): 1–13. doi:10.1006/geno.1997.5185. PMID 9570943.

[entrez-6] "Entrez Gene: SLC19A1 solute carrier family 19 (folate transporter), member 1".

[7] Ritchie, C; Cordova, AF; Hess, GT; Bassik, MC; Li, L (25 July 2019). "SLC19A1 Is an Importer of the Immunotransmitter cGAMP". Molecular Cell. 75 (2): 372–381.e5. doi:10.1016/j.molcel.2019.05.006. PMC 6711396. PMID 31126740.

[pmid19650776-8] Stanisławska-Sachadyn A, Mitchell LE, Woodside JV, Buckley PT, Kealey C, Young IS, Scott JM, Murray L, Boreham CA, McNulty H, Strain JJ, Whitehead AS (September 2009). "The reduced folate carrier (SLC19A1) c.80G>A polymorphism is associated with red cell folate concentrations among women". Annals of Human Genetics. 73 (Pt 5): 484–91. doi:10.1111/j.1469-1809.2009.00529.x. PMC 2812009. PMID 19650776.
Kelly France (22 August 2009). "Polymorphisms Affecting Red Cell Folate Concentrations in Women could Identify Increased Risk for certain Birth Defects". PGxNews. Archived from the original on 2009-09-22.

[9] Kelly France (22 August 2009). "Polymorphisms Affecting Red Cell Folate Concentrations in Women could Identify Increased Risk for certain Birth Defects". PGxNews. Archived from the original on 2009-09-22.

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엽산 트랜스포터 1

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엽산 트랜스포터 1

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