ATP7B

Protein sy'n cael ei godio yn y corff dynol gan y genyn ATP7B yw ATP7B a elwir hefyd yn ATPase, Cu++ transporting, beta polypeptide, isoform CRA_c ac ATP7B protein (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 13, band 13q14.3.

ATP7B
Strwythurau PDB Human UniProt search: PDBe RCSB Rhestr o ddynodwyr PDB 2ROP, 2EW9, 2KOY, 2LQB
Dynodwyr
Cyfenwau	ATP7B, PWD, WC1, WD, WND, ATPase copper transporting beta
Dynodwyr allanol	OMIM: 606882 HomoloGene: 20063 GeneCards: ATP7B
Patrwm RNA pattern Rhagor o gyfeiriadau
Ontoleg y genyn Gweithrediad moleciwlaidd • nucleotide binding • metal ion binding • GO:0004008 P-type divalent copper transporter activity • ATPase-coupled cation transmembrane transporter activity • GO:0001948, GO:0016582 protein binding • copper ion binding • hydrolase activity • ATP binding • copper ion transmembrane transporter activity Cydrannau o'r gell • cytoplasm • integral component of membrane • trans-Golgi network membrane • bilen • Golgi membrane • integral component of plasma membrane • trans-Golgi network • basolateral plasma membrane • mitocondria • perinuclear region of cytoplasm • endosome • late endosome • Golgi apparatus • GO:0016023 cytoplasmic vesicle Prosesau biolegol • protein maturation by copper ion transfer • copper ion transmembrane transport • GO:0070839 metal ion transport • copper ion import • cation transport • cludo ïon • copper ion export • cludo transmembrane rhwng ïonau • sequestering of calcium ion • cellular zinc ion homeostasis • cellular copper ion homeostasis • lactation • response to copper ion • copper ion transport • GO:0015915 transport Sources:Amigo / QuickGO
Orthologau
Species	Bod dynol	Llygoden
Entrez	540	n/a
Ensembl	ENSG00000123191	n/a
UniProt	P35670	n/a
RefSeq (mRNA)	NM_000053 NM_001005918 NM_001243182 NM_001330578 NM_001330579	n/a
RefSeq (protein)	NP_000044 NP_001005918 NP_001230111 NP_001317507 NP_001317508 NP_000044.2 NP_000044.2 NP_001005918.1 NP_001230111.1	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 ATP7B.

• WD
• PWD
• WC1
• WND

Llyfryddiaeth

• "Interaction between airborne copper exposure and ATP7B polymorphisms on inattentiveness in scholar children. ". Int J Hyg Environ Health. 2017. PMID 28008856.
• "Intragenic Deletions in ATP7B as an Unusual Molecular Genetics Mechanism of Wilson's Disease Pathogenesis. ". PLoS One. 2016. PMID 27992490.
• "Quantification of ATP7B Protein in Dried Blood Spots by Peptide Immuno-SRM as a Potential Screen for Wilson's Disease. ". J Proteome Res. 2017. PMID 27935710.
• "A systems biology approach reveals new endoplasmic reticulum-associated targets for the correction of the ATP7B mutant causing Wilson disease. ". Metallomics. 2016. PMID 27714068.
• "Direct sequencing of mutations in the copper-transporting P-type adenosine triphosphate (ATP7B) gene for diagnosis and pathogenesis of Wilson's disease.". Genet Mol Res. 2016. PMID 27706781.