GARS

GARS1
Strwythurau PDB Human UniProt search: PDBe RCSB Rhestr o ddynodwyr PDB 2PME, 2PMF, 2Q5H, 2Q5I, 2ZT5, 2ZT6, 2ZT7, 2ZT8, 2ZXF, 4KQE, 4KR2, 4QEI, 5E6M
Dynodwyr
Cyfenwau	GARS1, CMT2D, DSMAV, GlyRS, HMN5, SMAD1, glycyl-tRNA synthetase, GARS, glycyl-tRNA synthetase 1, HMN5A, SMAJI
Dynodwyr allanol	OMIM: 600287 HomoloGene: 1547 GeneCards: GARS1
Patrwm RNA pattern Rhagor o gyfeiriadau
Ontoleg y genyn Gweithrediad moleciwlaidd • aminoacyl-tRNA ligase activity • nucleotide binding • ligase activity • protein dimerization activity • ATP binding • bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity • hydrolase activity • GO:0001948, GO:0016582 protein binding • identical protein binding • glycine-tRNA ligase activity • transferase activity Cydrannau o'r gell • axon • mitochondrial matrix • cell projection • secretory granule • cytosol • extracellular exosome • extracellular region • cytoplasm • mitocondria Prosesau biolegol • diadenosine tetraphosphate biosynthetic process • protein biosynthesis • glycyl-tRNA aminoacylation • mitochondrial glycyl-tRNA aminoacylation • tRNA aminoacylation for protein translation Sources:Amigo / QuickGO
Orthologau
Species	Bod dynol	Llygoden
Entrez	2617	n/a
Ensembl	ENSG00000106105	n/a
UniProt	P41250	n/a
RefSeq (mRNA)	NM_002047 NM_001316772	n/a
RefSeq (protein)	NP_001303701 NP_002038	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 GARS yw GARS a elwir hefyd yn Glycyl-tRNA synthetase (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 dynol 7, band 7p14.3.

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 GARS.

• HMN5
• CMT2D
• DSMAV
• GlyRS
• SMAD1

Llyfryddiaeth

• "Compound heterozygosity for loss-of-function GARS variants results in a multisystem developmental syndrome that includes severe growth retardation. ". Hum Mutat. 2017. PMID 28675565.
• "Crystal Structure of the Wild-Type Human GlyRS Bound with tRNA(Gly) in a Productive Conformation. ". J Mol Biol. 2016. PMID 27261259.
• "Large Conformational Changes of Insertion 3 in Human Glycyl-tRNA Synthetase (hGlyRS) during Catalysis. ". J Biol Chem. 2016. PMID 26797133.
• "Elaborate uORF/IRES features control expression and localization of human glycyl-tRNA synthetase. ". RNA Biol. 2015. PMID 26327585.
• "Two Novel De Novo GARS Mutations Cause Early-Onset Axonal Charcot-Marie-Tooth Disease.". PLoS One. 2015. PMID 26244500.