炭水化物応答配列結合タンパク質

MLXIPL
PDBに登録されている構造
PDB	オルソログ検索: RCSB PDBe PDBj
PDBのIDコード一覧
	4GNT
識別子
記号	MLXIPL, CHREBP, MIO, MONDOB, WBSCR14, WS-bHLH, bHLHd14, MLX interacting protein like, MLX
外部ID	OMIM: 605678 MGI: 1927999 HomoloGene: 32507 GeneCards: MLXIPL
遺伝子の位置 (ヒト)
染色体	7番染色体 (ヒト)[1]
終点	73,624,543 bp[1]
遺伝子の位置 (マウス)
染色体	5番染色体 (マウス)[2]
終点	135,167,236 bp[2]
RNA発現パターン
	さらなる参照発現データ
遺伝子オントロジー
分子機能	• carbohydrate response element binding; • DNA結合; • protein dimerization activity; • protein homodimerization activity; • DNA-binding transcription factor activity; • 転写因子結合; • RNA polymerase II cis-regulatory region sequence-specific DNA binding; • DNA-binding transcription repressor activity, RNA polymerase II-specific; • protein heterodimerization activity; • DNA-binding transcription factor activity, RNA polymerase II-specific;
細胞の構成要素	• transcription regulator complex; • 核質; • 細胞核; • 細胞質; • 細胞質基質;
生物学的プロセス	• intracellular signal transduction; • positive regulation of lipid biosynthetic process; • regulation of transcription, DNA-templated; • glucose homeostasis; • regulation of transcription by RNA polymerase II; • 解剖学的構造の形態形成; • negative regulation of transcription by RNA polymerase II; • positive regulation of fatty acid biosynthetic process; • transcription, DNA-templated; • positive regulation of transcription, DNA-templated; • fatty acid homeostasis; • positive regulation of cell population proliferation; • negative regulation of peptidyl-serine phosphorylation; • glucose mediated signaling pathway; • negative regulation of oxidative phosphorylation; • negative regulation of transcription, DNA-templated; • positive regulation of glycolytic process; • triglyceride homeostasis; • positive regulation of transcription by RNA polymerase II; • cellular response to carbohydrate stimulus; • energy homeostasis;
	出典:Amigo / QuickGO
オルソログ
	51085
	58805
	ENSG00000009950
	ENSMUSG00000005373
	Q9NP71,H7C1V3
	Q99MZ3
	NM_032951; NM_032952; NM_032953; NM_032954; NM_032994
	NM_021455; NM_001359237
	NP_116569; NP_116570; NP_116571; NP_116572
	NP_067430; NP_001346166
	ウィキデータ
閲覧/編集ヒト	閲覧/編集マウス

炭水化物応答領域結合タンパク質（たんすいかぶつはんのうせいりょういきけつごうタンパクしつ、Carbohydrate-responsive element-binding protein、略称: ChREBP）は、ヒトにおいてMLXIPL遺伝子にコードされているタンパク質である[5][6]。MLX-interacting protein-like (MLXIPL) としても知られている。名称はこのタンパク質がDNAの炭水化物応答領域配列と相互作用することに由来する。

機能

この遺伝子は、Myc / Max / Madスーパーファミリーの塩基性ヘリックス-ループ-ヘリックスロイシンジッパー転写因子をコードしている。このタンパク質はヘテロ二量体複合体を形成し、グルコース依存的にトリグリセリド合成遺伝子のプロモーターに存在する炭水化物応答配列 (ChoRE) モチーフに結合して活性化させる[6]。

臨床的重要性

この遺伝子は7番染色体7q11.23の遺伝子欠失が原因の多系統発達障害であるウィリアムズ症候群において欠失している[6]。

相互作用

MLXIPLはMLXと相互作用することが明らかとされている[7]

解糖系における役割

ChREBPは、核へ移行しPP2Aによってp-Serおよびp-Thrが脱リン酸化された後にDNAに結合する。PP2A自身はキシルロース-5-リン酸によって活性化される[8]。Xu5Pはグルコース-6-リン酸の濃度が高い（細胞が十分なグルコースを持っている）場合にペントースリン酸経路で作られる。肝臓では、ChREBPはL型ピルビン酸キナーゼ (L-PK) や、アセチルCoAカルボキシラーゼ、脂肪酸合成酵素を含む解糖系や脂質生合成のいくつかの調節遺伝子の活性化を媒介する。

脚注

GRCh38: Ensembl release 89: ENSG00000009950 - Ensembl, May 2017
GRCm38: Ensembl release 89: ENSMUSG00000005373 - Ensembl, May 2017
Human PubMed Reference:
Mouse PubMed Reference:
Meng X, Lu X, Li Z, Green ED, Massa H, Trask BJ, Morris CA, Keating MT (Jan 1999). “Complete physical map of the common deletion region in Williams syndrome and identification and characterization of three novel genes”. Hum Genet 103 (5): 590–9. doi:10.1007/s004390050874. PMID 9860302.
“Entrez Gene: MLXIPL MLX interacting protein-like”. 2013年10月25日閲覧。
Cairo S, Merla G, Urbinati F, Ballabio A, Reymond A (March 2001). “WBSCR14, a gene mapping to the Williams--Beuren syndrome deleted region, is a new member of the Mlx transcription factor network”. Hum. Mol. Genet. 10 (6): 617–27. doi:10.1093/hmg/10.6.617. PMID 11230181.
Kabashima T, Kawaguchi T, Wadzinski BE, Uyeda K (2003). “Xylulose 5-phosphate mediates glucose-induced lipogenesis by xylulose 5-phosphate-activated protein phosphatase in rat liver”. Proc. Natl. Acad. Sci. U S A 100 (9): 5107-5112. doi:10.1073/pnas.0730817100. PMC 154306. PMID 12684532.

推薦文献

de Luis O, Valero MC, Jurado LA (2000). “WBSCR14, a putative transcription factor gene deleted in Williams-Beuren syndrome: complete characterisation of the human gene and the mouse ortholog.”. Eur. J. Hum. Genet. 8 (3): 215–22. doi:10.1038/sj.ejhg.5200435. PMID 10780788.
Cairo S, Merla G, Urbinati F, et al. (2001). “WBSCR14, a gene mapping to the Williams--Beuren syndrome deleted region, is a new member of the Mlx transcription factor network.”. Hum. Mol. Genet. 10 (6): 617–27. doi:10.1093/hmg/10.6.617. PMID 11230181.
Kawaguchi T, Takenoshita M, Kabashima T, Uyeda K (2002). “Glucose and cAMP regulate the L-type pyruvate kinase gene by phosphorylation/dephosphorylation of the carbohydrate response element binding protein.”. Proc. Natl. Acad. Sci. U.S.A. 98 (24): 13710–5. doi:10.1073/pnas.231370798. PMC 61106. PMID 11698644.
Kawaguchi T, Osatomi K, Yamashita H, et al. (2002). “Mechanism for fatty acid "sparing" effect on glucose-induced transcription: regulation of carbohydrate-responsive element-binding protein by AMP-activated protein kinase.”. J. Biol. Chem. 277 (6): 3829–35. doi:10.1074/jbc.M107895200. PMID 11724780.
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.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). “Complete sequencing and characterization of 21,243 full-length human cDNAs.”. Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
Hillman RT, Green RE, Brenner SE (2005). “An unappreciated role for RNA surveillance.”. Genome Biol. 5 (2): R8. doi:10.1186/gb-2004-5-2-r8. PMC 395752. PMID 14759258.
Merla G, Howald C, Antonarakis SE, Reymond A (2005). “The subcellular localization of the ChoRE-binding protein, encoded by the Williams-Beuren syndrome critical region gene 14, is regulated by 14-3-3.”. Hum. Mol. Genet. 13 (14): 1505–14. doi:10.1093/hmg/ddh163. PMID 15163635.
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.
Li MV, Chang B, Imamura M, et al. (2006). “Glucose-dependent transcriptional regulation by an evolutionarily conserved glucose-sensing module.”. Diabetes 55 (5): 1179–89. doi:10.2337/db05-0822. PMID 16644671.

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[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000009950 - Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000005373 - Ensembl, May 2017

[3] Human PubMed Reference:

[4] Mouse PubMed Reference:

[pmid9860302-5] Meng X, Lu X, Li Z, Green ED, Massa H, Trask BJ, Morris CA, Keating MT (Jan 1999). “Complete physical map of the common deletion region in Williams syndrome and identification and characterization of three novel genes”. Hum Genet 103 (5): 590–9. doi:10.1007/s004390050874. PMID 9860302.

[entrez-6] “Entrez Gene: MLXIPL MLX interacting protein-like”. 2013年10月25日閲覧。

[pmid11230181-7] Cairo S, Merla G, Urbinati F, Ballabio A, Reymond A (March 2001). “WBSCR14, a gene mapping to the Williams--Beuren syndrome deleted region, is a new member of the Mlx transcription factor network”. Hum. Mol. Genet. 10 (6): 617–27. doi:10.1093/hmg/10.6.617. PMID 11230181.

[8] Kabashima T, Kawaguchi T, Wadzinski BE, Uyeda K (2003). “Xylulose 5-phosphate mediates glucose-induced lipogenesis by xylulose 5-phosphate-activated protein phosphatase in rat liver”. Proc. Natl. Acad. Sci. U S A 100 (9): 5107-5112. doi:10.1073/pnas.0730817100. PMC 154306. PMID 12684532.