SF3B4

SF3B4
Strwythurau PDB Human UniProt search: PDBe RCSB Rhestr o ddynodwyr PDB 1X5T, 1X5U
Dynodwyr
Cyfenwau	SF3B4, AFD1, Hsh49, SAP49, SF3b49, splicing factor 3b subunit 4
Dynodwyr allanol	OMIM: 605593 HomoloGene: 134086 GeneCards: SF3B4
Patrwm RNA pattern Rhagor o gyfeiriadau
Ontoleg y genyn Gweithrediad moleciwlaidd • GO:0001948, GO:0016582 protein binding • nucleic acid binding • RNA binding Cydrannau o'r gell • U12-type spliceosomal complex • cnewyllyn cell • nucleoplasm • spliceosomal complex • nucleolus • U2-type precatalytic spliceosome • ribonucleoprotein complex Prosesau biolegol • RNA splicing, via transesterification reactions • mRNA splicing, via spliceosome • positive regulation of mRNA splicing, via spliceosome • mRNA processing • RNA splicing Sources:Amigo / QuickGO
Orthologau
Species	Bod dynol	Llygoden
Entrez	10262	n/a
Ensembl	ENSG00000143368	n/a
UniProt	Q15427 Q5SZ64	n/a
RefSeq (mRNA)	NM_005850	n/a
RefSeq (protein)	NP_005841	n/a
Lleoliad (UCSC)	n/a	n/a
PubMed search	[1]	n/a
Wicidata
Gweld/Golygu Bod dynol

Protein sy'n cael ei godio yn y corff dynol gan y genyn SF3B4 yw SF3B4 a elwir hefyd yn Splicing factor 3B subunit 4 (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 1, band 1q21.2.^[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 SF3B4.

• "Increased Copy Number of the Gene Encoding SF3B4 Indicates Poor Prognosis in Hepatocellular Carcinoma. ". Anticancer Res. 2016. PMID 27127115.
• "Nager syndrome: confirmation of SF3B4 haploinsufficiency as the major cause. ". Clin Genet. 2014. PMID 24003905.
• "A synonymous splicing mutation in the SF3B4 gene segregates in a family with highly variable Nager syndrome. ". Eur J Hum Genet. 2017. PMID 27966544.
• "Rodriguez acrofacial dysostosis is caused by apparently de novo heterozygous mutations in the SF3B4 gene. ". Am J Med Genet A. 2016. PMID 27642715.
• "Altered mRNA Splicing, Chondrocyte Gene Expression and Abnormal Skeletal Development due to SF3B4 Mutations in Rodriguez Acrofacial Dysostosis.". PLoS Genet. 2016. PMID 27622494.