TPP1

TPP1
Strwythurau PDB Human UniProt search: PDBe RCSB Rhestr o ddynodwyr PDB 3EDY, 3EE6
Dynodwyr
Cyfenwau	TPP1, CLN2, LPIC, SCAR7, TPP-1, GIG1, Tripeptidyl peptidase I, tripeptidyl peptidase 1
Dynodwyr allanol	OMIM: 607998 HomoloGene: 335 GeneCards: TPP1
Patrwm RNA pattern Rhagor o gyfeiriadau
Ontoleg y genyn Gweithrediad moleciwlaidd • tripeptidyl-peptidase activity • peptide binding • endopeptidase activity • metal ion binding • GO:0070122 peptidase activity • GO:0001948, GO:0016582 protein binding • serine-type peptidase activity • serine-type endopeptidase activity • hydrolase activity Cydrannau o'r gell • melanosome • lysosomal lumen • mitocondria • lysosome • extracellular exosome Prosesau biolegol • epithelial cell differentiation • neuromuscular process controlling balance • lipid metabolism • bone resorption • nervous system development • proteolysis • central nervous system development • IRE1-mediated unfolded protein response • GO:0044257 protein catabolic process • lysosome organization • peptide catabolic process Sources:Amigo / QuickGO
Orthologau
Species	Bod dynol	Llygoden
Entrez	1200	n/a
Ensembl	ENSG00000166340	n/a
UniProt	O14773	n/a
RefSeq (mRNA)	NM_000391	n/a
RefSeq (protein)	NP_000382	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 TPP1 yw TPP1 a elwir hefyd yn Tripeptidyl peptidase 1 (Saesneg). Segment o DNA yw'r genyn, sy'n amgodio ffwythiant arbennig. Mae'r genyn yma wedi ei leoli ar yr edefyn ôl o gromosom dynol 11, band 11p15.4.

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 TPP1.

• CLN2
• GIG1
• LPIC
• SCAR7
• TPP-1

Llyfryddiaeth

• "Extraneuronal pathology in a canine model of CLN2 neuronal ceroid lipofuscinosis after intracerebroventricular gene therapy that delays neurological disease progression. ". Gene Ther. 2017. PMID 28079862.
• "Dynamic peptides of human TPP1 fulfill diverse functions in telomere maintenance. ". Nucleic Acids Res. 2016. PMID 27655633.
• "Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis. ". Mol Genet Metab. 2016. PMID 27553878.
• "Genetic and molecular identification of three human TPP1 functions in telomerase action: recruitment, activation, and homeostasis set point regulation. ". Genes Dev. 2014. PMID 25128433.
• "Multiple facets of TPP1 in telomere maintenance.". Biochim Biophys Acta. 2014. PMID 24780581.