脆性信使核蛋白1

X染色體脆折症
已知的結構
PDB	直系同源搜索: PDBe RCSB
PDBID列表
	2BKD、2FMR、2LA5、2QND、4OVA、4QVZ、4QW2、5DE5、5DE8、5DEA
識別號
别名	FMR1；, FMRP, FRAXA, POF, POF1, fragile X mental retardation 1, FMRP translational regulator 1, fragile X messenger ribonucleoprotein 1
外部ID	OMIM：309550 MGI：95564 HomoloGene：1531 GeneCards：FMR1
相關疾病
	X染色體脆折症運動失調症候群
基因位置（人类）
染色体	X染色體
终止	147,951,125 bp
基因位置（小鼠）
染色体	小鼠X染色体
终止	67,761,569 bp
RNA表达模式
	; ;
	查阅更多表达数据
基因本體
分子功能	• protein homodimerization activity; • poly(U) RNA binding; • ribosome binding; • poly(G) binding; • 血浆蛋白结合; • protein heterodimerization activity; • nucleic acid binding; • translation initiation factor binding; • mRNA binding; • G-quadruplex RNA binding; • RNA strand annealing activity; • siRNA binding; • miRNA binding; • mRNA 3'-UTR binding; • mRNA 5'-UTR binding; • translation repressor activity; • microtubule binding; • chromatin binding; • methylated histone binding; • sequence-specific mRNA binding; • transmembrane transporter binding; • RNA stem-loop binding; • dynein complex binding; • RNA binding; • 相同蛋白质结合; • translation regulator activity;
細胞組分	• 細胞質; • 神经末梢; • 树突棘; • 核质; • SMN complex; • mRNA cap binding complex; • 树突; • 核仁; • neuron projection; • cytoplasmic ribonucleoprotein granule; • 细胞核; • polysomal ribosome; • 細胞本體; • 细胞质的核周区域; • 核糖核蛋白; • 突触后致密物质; • chromocenter; • 轴突; • 细胞连接; • neuronal ribonucleoprotein granule; • filopodium tip; • postsynaptic membrane; • 多核糖体; • 卡哈爾體; • 染色体; • 生长锥; • 着絲粒; • growth cone filopodium; • viral replication complex; • 细胞膜; • extrinsic component of plasma membrane; • glial cell projection; • cell projection; • 膜; • dendritic filopodium; • presynaptic membrane; • presynapse; • postsynapse; • 突触; • 细胞质基质; • messenger ribonucleoprotein complex; • 應激顆粒; • ribonucleoprotein granule; • soma; • dendritic spine neck; • axon cytoplasm;
生物學過程	• negative regulation of translational initiation; • regulation of dendritic spine development; • positive regulation of intracellular transport of viral material; • cellular response to virus; • 核糖核酸剪接; • regulation of gene silencing by miRNA; • cellular response to hydroxyurea; • regulation of neurotransmitter secretion; • positive regulation of gene silencing by miRNA; • 神經系統的發育; • cellular response to DNA damage stimulus; • 基因沉默; • mRNA processing; • mRNA transport; • positive regulation of proteasomal protein catabolic process; • viral process; • regulation of mRNA stability; • positive regulation of response to DNA damage stimulus; • positive regulation of dendritic spine development; • regulation of filopodium assembly; • negative regulation of cytoplasmic translation; • regulation of translation; • regulation of alternative mRNA splicing, via spliceosome; • regulation of neuronal action potential; • positive regulation of mRNA binding; • cellular response to UV; • modulation by host of viral RNA genome replication; • glutamate receptor signaling pathway; • negative regulation of long-term synaptic depression; • positive regulation of filopodium assembly; • negative regulation of synaptic vesicle exocytosis; • positive regulation of receptor internalization; • negative regulation of voltage-gated calcium channel activity; • positive regulation of translation; • negative regulation of mRNA catabolic process; • transport; • positive regulation of protein phosphorylation; • central nervous system development; • anterograde axonal transport; • negative regulation of translation; • regulation of dendrite morphogenesis; • regulation of translation at postsynapse, modulating synaptic transmission; • regulation of modification of synaptic structure;
	Sources:Amigo / QuickGO
直系同源
	2332
	14265
	ENSG00000102081
	ENSMUSG00000000838
	Q06787
	P35922
	NM_001185075; NM_001185076; NM_001185081; NM_001185082; NM_002024
	NM_001290424; NM_008031; NM_001374719
	NP_001172004; NP_001172005; NP_001172010; NP_001172011; NP_002015
	无数据
	維基數據
檢視/編輯人類	檢視/編輯小鼠

脆性X信使核蛋白1（英語：Fragile X Messenger Ribonucleoprotein 1, FMR1）是人类基因^[6]，其编码的蛋白质是脆性X信使核蛋白(fragile X messenger ribonucleoprotein , FMRP)^[7]，常见于大脑，对正常的认知发育（英语：Cognitive development）和女性生殖功能起关键作用。FMR1基因的突变会导致X染色體易裂症、智能障礙、原發性卵巢功能低下、孤独症谱系障碍、帕金森氏病、发育迟缓和其它认知缺陷。^[8]FMR1前突变（英语：Premutation）与广泛的临床表型相关，在全世界的患者高达两百万之多。^[9]

功能

突触可塑性

FMRP在各种神经元具有广泛功能，但这些功能还没有完全确定。有证据表明FMRP在mRNA的核质穿梭、树状细胞mRNA定位和突触蛋白质合成中起作用。^[10]

参考文献

^ 與X染色體脆折症相關的疾病；在維基數據上查看/編輯參考.
^ ^2.0 ^2.1 ^2.2 GRCh38: Ensembl release 89: ENSG00000102081 - Ensembl, May 2017
^ ^3.0 ^3.1 ^3.2 GRCm38: Ensembl release 89: ENSMUSG00000000838 - Ensembl, May 2017
^ 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.
^ Verkerk AJ, Pieretti M, Sutcliffe JS, Fu YH, Kuhl DP, Pizzuti A, Reiner O, Richards S, Victoria MF, Zhang FP. Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell. May 1991, 65 (5): 905–14. PMID 1710175. S2CID 21463845. doi:10.1016/0092-8674(91)90397-H.
^ Verheij C, Bakker CE, de Graaff E, Keulemans J, Willemsen R, Verkerk AJ, Galjaard H, Reuser AJ, Hoogeveen AT, Oostra BA. Characterization and localization of the FMR-1 gene product associated with fragile X syndrome. Nature. June 1993, 363 (6431): 722–4. Bibcode:1993Natur.363..722V. PMID 8515814. S2CID 4331494. doi:10.1038/363722a0. hdl:1765/56659 .
^ "Fragile X Messenger Ribonucleoprotein 1" The Human Gene Compendium
^ Milà M, Rodriguez-Revenga L, Matilla-Dueñas A. FMR1 Premutation: Basic Mechanisms and Clinical Involvement. Cerebellum. October 2016, 15 (5): 543–5. PMID 27338822. S2CID 16002209. doi:10.1007/s12311-016-0808-7.
^ Antar LN, Dictenberg JB, Plociniak M, Afroz R, Bassell GJ. Localization of FMRP-associated mRNA granules and requirement of microtubules for activity-dependent trafficking in hippocampal neurons. Genes, Brain and Behavior. August 2005, 4 (6): 350–9. PMID 16098134. doi:10.1111/j.1601-183X.2005.00128.x .

外部链接

GeneCard
fragilex at NIH/UW GeneTests

[1] 與X染色體脆折症相關的疾病；在維基數據上查看/編輯參考.

[refGRCh38Ensembl-2] 2.0 ^2.1 ^2.2 GRCh38: Ensembl release 89: ENSG00000102081 - Ensembl, May 2017

[refGRCm38Ensembl-3] 3.0 ^3.1 ^3.2 GRCm38: Ensembl release 89: ENSMUSG00000000838 - Ensembl, May 2017

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

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

[pmid1710175-6] Verkerk AJ, Pieretti M, Sutcliffe JS, Fu YH, Kuhl DP, Pizzuti A, Reiner O, Richards S, Victoria MF, Zhang FP. Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell. May 1991, 65 (5): 905–14. PMID 1710175. S2CID 21463845. doi:10.1016/0092-8674(91)90397-H.

[pmid8515814-7] Verheij C, Bakker CE, de Graaff E, Keulemans J, Willemsen R, Verkerk AJ, Galjaard H, Reuser AJ, Hoogeveen AT, Oostra BA. Characterization and localization of the FMR-1 gene product associated with fragile X syndrome. Nature. June 1993, 363 (6431): 722–4. Bibcode:1993Natur.363..722V. PMID 8515814. S2CID 4331494. doi:10.1038/363722a0. hdl:1765/56659 .

[8] "Fragile X Messenger Ribonucleoprotein 1" The Human Gene Compendium

[pmid27338822-9] Milà M, Rodriguez-Revenga L, Matilla-Dueñas A. FMR1 Premutation: Basic Mechanisms and Clinical Involvement. Cerebellum. October 2016, 15 (5): 543–5. PMID 27338822. S2CID 16002209. doi:10.1007/s12311-016-0808-7.

[Antar2005-10] Antar LN, Dictenberg JB, Plociniak M, Afroz R, Bassell GJ. Localization of FMRP-associated mRNA granules and requirement of microtubules for activity-dependent trafficking in hippocampal neurons. Genes, Brain and Behavior. August 2005, 4 (6): 350–9. PMID 16098134. doi:10.1111/j.1601-183X.2005.00128.x .

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