PHF5A report

I. Expression across cell types

II. Expression across tissues

III. Associated gene sets

GO_0000398Biological processmRNA splicing, via spliceosome
GO_0048863Biological processstem cell differentiation
GO_0045893Biological processpositive regulation of DNA-templated transcription
GO_1903241Biological processU2-type prespliceosome assembly
GO_0005686Cellular componentU2 snRNP
GO_0016363Cellular componentnuclear matrix
GO_0016607Cellular componentnuclear speck
GO_0005684Cellular componentU2-type spliceosomal complex
GO_0071011Cellular componentprecatalytic spliceosome
GO_0005654Cellular componentnucleoplasm
GO_0005681Cellular componentspliceosomal complex
GO_0071005Cellular componentU2-type precatalytic spliceosome
GO_0005689Cellular componentU12-type spliceosomal complex
GO_0005634Cellular componentnucleus
GO_0003677Molecular functionDNA binding
GO_0005515Molecular functionprotein binding
GO_0008270Molecular functionzinc ion binding
GO_0003723Molecular functionRNA binding

IV. Literature review

[source]
Gene namePHF5A
Protein namePHD finger-like domain-containing protein 5A (PHD finger-like domain protein 5A) (Splicing factor 3B-associated 14 kDa protein) (SF3b14b)
Synonyms
DescriptionFUNCTION: Component of the 17S U2 SnRNP complex of the spliceosome, a large ribonucleoprotein complex that removes introns from transcribed pre-mRNAs . The 17S U2 SnRNP complex (1) directly participates in early spliceosome assembly and (2) mediates recognition of the intron branch site during pre-mRNA splicing by promoting the selection of the pre-mRNA branch-site adenosine, the nucleophile for the first step of splicing . Within the 17S U2 SnRNP complex, PHF5A is part of the SF3B subcomplex, which is required for 'A' complex assembly formed by the stable binding of U2 snRNP to the branchpoint sequence in pre-mRNA . Sequence independent binding of SF3A and SF3B subcomplexes upstream of the branch site is essential, it may anchor U2 snRNP to the pre-mRNA . Also acts as a component of the minor spliceosome, which is involved in the splicing of U12-type introns in pre-mRNAs . Also involved in elongation by RNA polymerase II as part of the PAF1 complex (PAF1C) (By similarity). PAF1C is required for maintenance of embryonic stem cell (ESC) self-renewal and cellular reprogramming of stem cells (By similarity). Maintains pluripotency by recruiting and stabilizing PAF1C on pluripotency genes loci, and by regulating the expression of the pluripotency genes (By similarity). Regulates the deposition of elongation-associated histone modifications, including dimethylated histone H3 'Lys-79' (H3K79me2) and trimethylated histone H3 'Lys-36' (H3K36me3), on PAF1C targets, self-renewal and pluripotency genes (By similarity). Regulates RNA polymerase II promoter-proximal pause release of the PAF1C targets and self-renewal genes, and the levels of elongating ('Ser-2' phosphorylated) RNA polymerase II in their gene bodies (By similarity). Regulates muscle specification in adult stem cells by stabilizing PAF1C in chromatin to promote myogenic differentiation (By similarity). Acts as a transcriptional regulator by binding to the GJA1/Cx43 promoter and enhancing its up-regulation by ESR1/ER-alpha (By similarity). .

AccessionsQ7RTV0
ENST00000216252.4