PHF5A
entrez
84844
canonical
uniprot
Q7RTV0
canonical
ensembl
ENSG00000100410
resolver
ensp
ENSP00000216252
resolver
enst
ENST00000216252
resolver
genesymbol
PHF5A
resolver
hgnc
HGNC:18000
resolver
uniprot
Q9UH06
resolver
uniprot_entry
PHF5A_HUMAN
resolver
uniprot_sec
Q9UH06
resolver
amino_acid_sequence
MAKHHPDLIFCRKQAGVAIGRLCEKCDGKCVICDSYVRPCTLVRICDECNYGSYQGRCVICGGPGVSDAYYCKECTIQEKDRDGCPKIVNLGSSKTDLFYERKKYGFKKR
uniprot
proteins
function
FUNCTION: Component of the 17S U2 SnRNP complex of the spliceosome, a large ribonucleoprotein complex that removes introns from transcribed pre-mRNAs (PubMed:12234937, PubMed:27720643, PubMed:28541300, PubMed:32494006, PubMed:34822310). 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 (PubMed:12234937, PubMed:32494006, PubMed:34822310). 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 (PubMed:12234937, PubMed:27720643). Sequence independent binding of SF3A and SF3B subcomplexes upstream of the branch site is essential, it may anchor U2 snRNP to the pre-mRNA (PubMed:12234937). Also acts as a component of the minor spliceosome, which is involved in the splicing of U12-type introns in pre-mRNAs (PubMed:15146077, PubMed:33509932). 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). {ECO:0000250|UniProtKB:P83870, ECO:0000250|UniProtKB:P83871, ECO:0000269|PubMed:12234937, ECO:0000269|PubMed:15146077, ECO:0000269|PubMed:27720643, ECO:0000269|PubMed:28541300, ECO:0000269|PubMed:32494006, ECO:0000269|PubMed:33509932, ECO:0000269|PubMed:34822310}.
uniprot
proteins
mass_dalton
12405
uniprot
proteins
mutagenesis
MUTAGEN 36; /note="Y->C: No apparent effect on cell growth, localization of SF3B1 protein or formation of nuclear speckles. Alters the structure of the presumed branchpoint (BP) adenosine binding pocket within the splicing factor SF3B complex which may lead to decreased binding affinity and thus affect pre-mRNA splicing."; /evidence="ECO:0000269|PubMed:28541300"; MUTAGEN 36; /note="Y->E,S,A: Alters the structure of the presumed branchpoint (BP) adenosine binding pocket within the splicing factor SF3B complex which may lead to decreased binding affinity and thus affect pre-mRNA splicing."; /evidence="ECO:0000269|PubMed:28541300
uniprot
proteins
protein_family
PHF5 family
uniprot
proteins
pubmed
10591208
uniprot
proteins
pubmed
12234937
uniprot
proteins
pubmed
12738865
uniprot
proteins
pubmed
15146077
uniprot
proteins
pubmed
15461802
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
27720643
uniprot
proteins
pubmed
28541300
uniprot
proteins
pubmed
32494006
uniprot
proteins
pubmed
33509932
uniprot
proteins
pubmed
34822310
uniprot
proteins
pubmed
36797247
uniprot
proteins
sequence_length
110
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:27720643, ECO:0000269|PubMed:28541300}. Nucleus speckle {ECO:0000250|UniProtKB:P83870}.
uniprot
proteins