UniProt:Q7RTV0 PHF5A

chain
  • initiator methionine:1
  • chain:2-110
checksum 90F7469DE7292BF7
comment
  • 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).SUBUNIT Component of the 17S U2 SnRNP complex, a ribonucleoprotein complex that contains small nuclear RNA (snRNA) U2 and a number of specific proteins (PubMed:12234937, PubMed:15146077, PubMed:32494006, PubMed:34822310, PubMed:36797247). Part of the SF3B subcomplex of the 17S U2 SnRNP complex (PubMed:12234937, PubMed:12738865, PubMed:27720643, PubMed:28541300). SF3B associates with the splicing subcomplex SF3A and a 12S RNA unit to form the U2 small nuclear ribonucleoproteins complex (U2 snRNP) (PubMed:12234937). Within the SF3B complex interacts directly with SF3B1 and SF3B3 (PubMed:27720643). Component of the minor spliceosome, which splices U12-type introns (PubMed:15146077, PubMed:33509932). Within this complex, interacts with CRIPT (PubMed:15146077, PubMed:33509932). Interacts (via N-terminus) with U2AF1 and SRSF5; acts to bridge the two (By similarity). Interacts (via C-terminus) with EP400 and DDX1; acts to bridge the two (By similarity). Interacts with the PAF1 complex (PAF1C) composed of CDC73, PAF1, LEO1, CTR9, RTF1 and SKIC8 (By similarity). Within the PAF1C interacts directly with CDC73 and SKIC8. Interacts with RNA polymerase II (By similarity).INTERACTION Belongs to the PHF5 family.
crossReference
databaseName UniProt
dbId 66653
description
  • recommendedName: PHD finger-like domain-containing protein 5A shortName: PHD finger-like domain protein 5A alternativeName: Splicing factor 3B-associated 14 kDa protein shortName: SF3b14b
displayName UniProt:Q7RTV0 PHF5A
geneName
  • PHF5A
identifier Q7RTV0
isSequenceChanged false
keyword
  • 3D-structure
  • Acetylation
  • Activator
  • DNA-binding
  • Metal-binding
  • mRNA processing
  • mRNA splicing
  • Nucleus
  • Phosphoprotein
  • Proteomics identification
  • Reference proteome
  • RNA-binding
  • Spliceosome
  • Transcription
  • Transcription regulation
  • Zinc
modified [InstanceEdit:9963647] Weiser, Joel, 2025-08-15
moleculeType Protein
name
  • PHF5A
otherIdentifier
  • 11717782_s_at
  • 11717783_x_at
  • 16935432
  • 225309_PM_at
  • 225309_at
  • 3961956
  • 3961957
  • 3961962
  • 3961964
  • 3961965
  • 57123_at
  • 8076339
  • 84844
  • A_23_P253571
  • GE79625
  • GO:0000398
  • GO:0003677
  • GO:0003723
  • GO:0005515
  • GO:0005634
  • GO:0005654
  • GO:0005681
  • GO:0005684
  • GO:0005686
  • GO:0005689
  • GO:0006355
  • GO:0006397
  • GO:0008270
  • GO:0008380
  • GO:0016071
  • GO:0016363
  • GO:0016607
  • GO:0030154
  • GO:0045893
  • GO:0046872
  • GO:0048863
  • GO:0065003
  • GO:0071005
  • GO:0071011
  • GO:1903241
  • HMNXSV003001974
  • Hs.273234.0.A1_3p_at
  • ILMN_1775901
  • ILMN_2112402
  • PH_hs_0029568
  • TC22000826.hg
physicalEntity
referenceDatabase [ReferenceDatabase:2] UniProt
referenceGene
referenceTranscript
schemaClass ReferenceGeneProduct
secondaryIdentifier
  • PHF5A_HUMAN
  • Q9UH06
sequenceLength 110
species [Species:48887] Homo sapiens
stId uniprot:Q7RTV0
url http://purl.uniprot.org/uniprot/Q7RTV0
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