HPRT1

Protein sy'n cael ei godio yn y corff dynol gan y genyn HPRT1 yw HPRT1 a elwir hefyd yn Hypoxanthine phosphoribosyltransferase 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 Xq26.2-q26.3.

HPRT1
Strwythurau PDB Human UniProt search: PDBe RCSB Rhestr o ddynodwyr PDB 1BZY, 1D6N, 1HMP, 1Z7G, 3GEP, 3GGC, 3GGJ, 2VFA, 4IJQ, 4KN6, 4RAB, 4RAC, 4RAD, 4RAN, 4RAO, 4RAQ, 5BSK, 5BRN
Dynodwyr
Cyfenwau	HPRT1, HGPRT, HPRT, hypoxanthine phosphoribosyltransferase 1
Dynodwyr allanol	OMIM: 308000 HomoloGene: 56590 GeneCards: HPRT1
Patrwm RNA pattern Rhagor o gyfeiriadau
Ontoleg y genyn Gweithrediad moleciwlaidd • transferase activity • nucleotide binding • protein homodimerization activity • glycosyltransferase activity • hypoxanthine phosphoribosyltransferase activity • guanine phosphoribosyltransferase activity • metal ion binding • GO:0001948, GO:0016582 protein binding • magnesium ion binding • identical protein binding Cydrannau o'r gell • cytoplasm • extracellular exosome • cytosol Prosesau biolegol • purine nucleotide biosynthetic process • grooming behavior • cytolysis • purine ribonucleoside salvage • GMP catabolic process • locomotory behavior • dendrite morphogenesis • hypoxanthine metabolic process • guanine salvage • response to amphetamine • purine-containing compound salvage • nucleoside metabolic process • dopamine metabolic process • central nervous system neuron development • lymphocyte proliferation • cerebral cortex neuron differentiation • IMP metabolic process • protein homotetramerization • striatum development • hypoxanthine salvage • adenine metabolic process • positive regulation of dopamine metabolic process • adenine salvage • IMP salvage • T cell mediated cytotoxicity • GMP salvage Sources:Amigo / QuickGO
Orthologau
Species	Bod dynol	Llygoden
Entrez	3251	n/a
Ensembl	ENSG00000165704	n/a
UniProt	P00492	n/a
RefSeq (mRNA)	NM_000194	n/a
RefSeq (protein)	NP_000185	n/a
Lleoliad (UCSC)	n/a	n/a
PubMed search		n/a
Wicidata
Gweld/Golygu Bod dynol

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 HPRT1.

• HPRT
• HGPRT

Llyfryddiaeth

• "Novel mutation in the human HPRT1 gene and the Lesch-Nyhan disease. ". Nucleosides Nucleotides Nucleic Acids. 2017. PMID 29185864.
• "CRISPR/Cas9-Mediated Scanning for Regulatory Elements Required for HPRT1 Expression via Thousands of Large, Programmed Genomic Deletions. ". Am J Hum Genet. 2017. PMID 28712454.
• "Lesch-Nyhan disease in two families from Chiloé Island with mutations in the HPRT1 gene. ". Nucleosides Nucleotides Nucleic Acids. 2017. PMID 28524722.
• "Human HPRT1 gene and the Lesch-Nyhan disease: Substitution of alanine for glycine and inversely in the HGprt enzyme protein. ". Nucleosides Nucleotides Nucleic Acids. 2017. PMID 28045594.
• "Novel mutation in HPRT1 causing a splicing error with multiple variations.". Nucleosides Nucleotides Nucleic Acids. 2017. PMID 27754763.