PIK3R1 |
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Strwythurau |
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PDB | Human UniProt search: PDBe RCSB |
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Rhestr o ddynodwyr PDB |
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1A0N, 1AZG, 1H9O, 1PBW, 1PHT, 1PIC, 1PKS, 1PKT, 2IUG, 2IUH, 2IUI, 2RD0, 2V1Y, 3HHM, 3HIZ, 3I5R, 3I5S, 4A55, 4JPS, 4L1B, 4L23, 4L2Y, 4OVU, 4OVV, 4WAF, 5AUL |
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Dynodwyr |
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Cyfenwau | PIK3R1, AGM7, GRB1, IMD36, p85, p85-ALPHA, phosphoinositide-3-kinase regulatory subunit 1, PI3KR1 |
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Dynodwyr allanol | OMIM: 171833 HomoloGene: 7889 GeneCards: PIK3R1 |
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Orthologau |
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Species | Bod dynol | Llygoden |
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Entrez | | |
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Ensembl | | |
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UniProt | | |
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RefSeq (mRNA) | | |
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RefSeq (protein) | | |
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Lleoliad (UCSC) | n/a | n/a |
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PubMed search | [1] | n/a |
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Wicidata |
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Protein sy'n cael ei godio yn y corff dynol gan y genyn PIK3R1 yw PIK3R1 a elwir hefyd yn Phosphoinositide-3-kinase regulatory subunit 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 dynol 5, band 5q13.1.[2]
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 PIK3R1.
- p85
- AGM7
- GRB1
- IMD36
- p85-ALPHA
- "Dominant Splice Site Mutations in PIK3R1 Cause Hyper IgM Syndrome, Lymphadenopathy and Short Stature. ". J Clin Immunol. 2016. PMID 27076228.
- "Reduced germinal center follicular helper T cells but normal follicular regulatory T cells in the tonsils of a patient with a mutation in the PI3KR1 gene. ". Clin Immunol. 2016. PMID 26827886.
- "Iris Malformation and Anterior Segment Dysgenesis in Mice and Humans With a Mutation in PI 3-Kinase. ". Invest Ophthalmol Vis Sci. 2017. PMID 28632845.
- "Aberrant low expression of p85α in stromal fibroblasts promotes breast cancer cell metastasis through exosome-mediated paracrine Wnt10b. ". Oncogene. 2017. PMID 28394344.
- "Gain-of-function mutation in PIK3R1 in a patient with a narrow clinical phenotype of respiratory infections.". Clin Immunol. 2016. PMID 27693481.