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 • neuronal cell body • 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
Species	Bod dynol	Llygoden
Entrez	2332	n/a
Ensembl	ENSG00000102081	n/a
UniProt	Q06787	n/a
RefSeq (mRNA)	NM_001185075 NM_001185076 NM_001185081 NM_001185082 NM_002024	n/a
RefSeq (protein)	NP_001172004 NP_001172005 NP_001172010 NP_001172011 NP_002015	n/a
Lleoliad (UCSC)	n/a	n/a
PubMed search		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.

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.