FMR1

FMR1
Strwythurau
PDB	Human UniProt search: PDBe RCSB
Rhestr o ddynodwyr PDB
	2BKD, 2FMR, 2LA5, 2QND, 4OVA, 4QVZ, 4QW2, 5DE5, 5DE8, 5DEA
Dynodwyr
Cyfenwau	FMR1, FMRP, FRAXA, POF, POF1, fragile X mental retardation 1, FMRP translational regulator 1, fragile X messenger ribonucleoprotein 1
Dynodwyr allanol	OMIM: 309550 HomoloGene: 1531 GeneCards: FMR1
Patrwm RNA pattern
	; ;
	Rhagor o gyfeiriadau
Ontoleg y genyn
Gweithrediad moleciwlaidd	• protein homodimerization activity; • poly(U) RNA binding; • ribosome binding; • poly(G) binding; • GO:0001948, GO:0016582 protein binding; • 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; • identical protein binding; • translation regulator activity;
Cydrannau o'r gell	• cytoplasm; • axon terminus; • dendritic spine; • nucleoplasm; • SMN complex; • mRNA cap binding complex; • dendrite; • nucleolus; • neuron projection; • cytoplasmic ribonucleoprotein granule; • cnewyllyn cell; • polysomal ribosome; • perikaryon; • perinuclear region of cytoplasm; • ribonucleoprotein complex; • GO:0097483, GO:0097481 postsynaptic density; • chromocenter; • axon; • cell junction; • neuronal ribonucleoprotein granule; • filopodium tip; • postsynaptic membrane; • polysome; • Cajal body; • Cromosom; • growth cone; • chromosome, centromeric region; • growth cone filopodium; • viral replication complex; • Cellbilen; • extrinsic component of plasma membrane; • glial cell projection; • cell projection; • bilen; • dendritic filopodium; • presynaptic membrane; • presynapse; • postsynapse; • synapse; • cytosol; • messenger ribonucleoprotein complex; • cytoplasmic stress granule; • ribonucleoprotein granule; • soma; • dendritic spine neck; • axon cytoplasm;
Prosesau biolegol	• negative regulation of translational initiation; • regulation of dendritic spine development; • positive regulation of intracellular transport of viral material; • cellular response to virus; • RNA splicing; • GO:1905616 regulation of gene silencing by miRNA; • cellular response to hydroxyurea; • regulation of neurotransmitter secretion; • GO:1905618 positive regulation of gene silencing by miRNA; • nervous system development; • cellular response to DNA damage stimulus; • gene silencing; • mRNA processing; • mRNA transport; • positive regulation of proteasomal protein catabolic process; • GO:0022415 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; • GO:0015915 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
Orthologau
	2332
	n/a
	ENSG00000102081
	n/a
	Q06787
	n/a
	NM_001185075; NM_001185076; NM_001185081; NM_001185082; NM_002024
	n/a
	NP_001172004; NP_001172005; NP_001172010; NP_001172011; NP_002015
	n/a
	Wicidata
Gweld/Golygu Bod dynol

Protein sy'n cael ei godio yn y corff dynol gan y genyn FMR1 yw FMR1 a elwir hefyd yn Fragile X mental retardation 1 (Saesneg). Segment o DNA yw'r genyn, sy'n amgodio ffwythiant arbennig. Mae'r genyn yma wedi ei leoli ar yr edefyn blaen o gromosom X dynol, band Xq27.3.^[2]

Cyfystyron

Yn aml mae gan enynnau lawer o gyfystyron. Mae hyn oherwydd eu bod yn aml yn cael eu darganfod gan nifer o bobl mewn cyd-destunau gwahanol heb wybod mai'r un genynnau oeddyn nhw. Hefyd mae gan wahanol gymunedau gwyddonol safonau gwahanol ar gyfer enwi genynnau. Dyma restr o gyfystyron ar gyfer y genyn FMR1.

POF
FMRP
POF1
FRAXA

Llyfryddiaeth

"Fragile X Mental Retardation Protein Restricts Small Dye Iontophoresis Entry into Central Neurons. ". J Neurosci. 2017. PMID 28887386.
"White matter microstructure, cognition, and molecular markers in fragile X premutation females. ". Neurology. 2017. PMID 28476762.
"Abnormal trajectories in cerebellum and brainstem volumes in carriers of the fragile X premutation. ". Neurobiol Aging. 2017. PMID 28391068.
"Validation of a commercially available test that enables the quantification of the numbers of CGG trinucleotide repeat expansion in FMR1 gene. ". PLoS One. 2017. PMID 28278294.
"Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome.". Eur J Hum Genet. 2017. PMID 28176767.

Cyfeiriadau

[1] "Human PubMed Reference:".

[2] FMR1 - Cronfa NCBI

[1]

[2]