Human Gene PHF5A (ENST00000216252.4_7) from GENCODE V47lift37
  Description: PHD finger protein 5A (from RefSeq NM_032758.4)
Gencode Transcript: ENST00000216252.4_7
Gencode Gene: ENSG00000100410.8_9
Transcript (Including UTRs)
   Position: hg19 chr22:41,855,721-41,864,696 Size: 8,976 Total Exon Count: 4 Strand: -
Coding Region
   Position: hg19 chr22:41,856,402-41,864,657 Size: 8,256 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDGene Alleles
RNA-Seq ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr22:41,855,721-41,864,696)mRNA (may differ from genome)Protein (110 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMGIOMIMPubMedReactomeUniProtKB
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: PHF5A_HUMAN
DESCRIPTION: RecName: Full=PHD finger-like domain-containing protein 5A; Short=PHD finger-like domain protein 5A; AltName: Full=Splicing factor 3B-associated 14 kDa protein; Short=SF3b14b;
FUNCTION: Acts as a transcriptional regulator by binding to the GJA1/Cx43 promoter and enhancing its up-regulation by ESR1/ER- alpha. Also involved in pre-mRNA splicing.
SUBUNIT: Interacts (via N-terminus) with U2AF1 and SRSF5; acts to bridge the two. Interacts (via C-terminus) with EP400 and DDX1; acts to bridge the two (By similarity). Component of splicing factor SF3B which is composed of at least eight subunits; SF3B1/SAP155/SF3B155, SF3B2/SAP145/SF3B145, SF3B3/SAP130/SF3B130, SF3B4/SAP49/SF3B49, SF3B14A, PHF5A/SF3B14B, SF3B10 and SF3B125. SF3B associates with the splicing factor SF3A and a 12S RNA unit to form the U2 small nuclear ribonucleoproteins complex (U2 snRNP). Component of the U11/U12 snRNPs that are part of the U12- type spliceosome.
SUBCELLULAR LOCATION: Nucleus (By similarity). Nucleus speckle (By similarity).
SIMILARITY: Belongs to the PHF5 family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 26.66 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 765.30 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -13.2039-0.338 Picture PostScript Text
3' UTR -215.70681-0.317 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR005345 - PHF5

Pfam Domains:
PF03660 - PHF5-like protein

SCOP Domains:
57184 - Growth factor receptor domain

ModBase Predicted Comparative 3D Structure on Q7RTV0
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologGenome BrowserGenome Browser
Gene DetailsGene Details Gene DetailsGene DetailsGene Details
Gene SorterGene Sorter Gene SorterGene SorterGene Sorter
 RGDEnsembl WormBaseSGD
    Protein SequenceProtein Sequence
    AlignmentAlignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003677 DNA binding
GO:0003700 transcription factor activity, sequence-specific DNA binding
GO:0003723 RNA binding
GO:0046872 metal ion binding

Biological Process:
GO:0000398 mRNA splicing, via spliceosome
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006397 mRNA processing
GO:0008380 RNA splicing
GO:0045893 positive regulation of transcription, DNA-templated

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005681 spliceosomal complex
GO:0005686 U2 snRNP
GO:0005689 U12-type spliceosomal complex
GO:0016363 nuclear matrix
GO:0016607 nuclear speck
GO:0071011 precatalytic spliceosome
GO:0071013 catalytic step 2 spliceosome


-  Descriptions from all associated GenBank mRNAs
  BC075808 - Homo sapiens PHD finger protein 5A, mRNA (cDNA clone MGC:87881 IMAGE:5574722), complete cds.
BC007321 - Homo sapiens PHD finger protein 5A, mRNA (cDNA clone MGC:1346 IMAGE:2989046), complete cds.
JD485961 - Sequence 466985 from Patent EP1572962.
JD295096 - Sequence 276120 from Patent EP1572962.
JD073602 - Sequence 54626 from Patent EP1572962.
JD072621 - Sequence 53645 from Patent EP1572962.
JD431484 - Sequence 412508 from Patent EP1572962.
JD261568 - Sequence 242592 from Patent EP1572962.
JD358165 - Sequence 339189 from Patent EP1572962.
JD348988 - Sequence 330012 from Patent EP1572962.
JD050924 - Sequence 31948 from Patent EP1572962.
CR456398 - Homo sapiens bK223H9.2 full length open reading frame (ORF) cDNA clone (cDNA clone C22ORF:pGEM.bK223H9.2).
JD073087 - Sequence 54111 from Patent EP1572962.
JD474947 - Sequence 455971 from Patent EP1572962.
JD189936 - Sequence 170960 from Patent EP1572962.
JD080401 - Sequence 61425 from Patent EP1572962.
CU012956 - Homo sapiens PHF5A, mRNA (cDNA clone IMAGE:100000119), complete cds, with stop codon, in Gateway system.
KJ895037 - Synthetic construct Homo sapiens clone ccsbBroadEn_04431 PHF5A gene, encodes complete protein.
EU446678 - Synthetic construct Homo sapiens clone IMAGE:100069884; IMAGE:100011887; FLH258610.01L PHD finger protein 5A (PHF5A) gene, encodes complete protein.
AB489147 - Synthetic construct DNA, clone: pF1KB9547, Homo sapiens PHF5A gene for PHD finger protein 5A, without stop codon, in Flexi system.
CU013244 - Homo sapiens PHF5A, mRNA (cDNA clone IMAGE:100000023), complete cds, without stop codon, in Gateway system.
JD508825 - Sequence 489849 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q7RTV0 (Reactome details) participates in the following event(s):

R-HSA-72124 Formation of the Spliceosomal A Complex
R-HSA-72143 Lariat Formation and 5'-Splice Site Cleavage
R-HSA-72139 Formation of the active Spliceosomal C (B*) complex
R-HSA-72127 Formation of the Spliceosomal B Complex
R-HSA-72130 Formation of an intermediate Spliceosomal C (Bact) complex
R-HSA-156661 Formation of Exon Junction Complex
R-HSA-72163 mRNA Splicing - Major Pathway
R-HSA-72172 mRNA Splicing
R-HSA-72203 Processing of Capped Intron-Containing Pre-mRNA
R-HSA-8953854 Metabolism of RNA

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000216252.1, ENST00000216252.2, ENST00000216252.3, NM_032758, PHF5A_HUMAN, Q7RTV0, Q9UH06, uc317cpm.1, uc317cpm.2
UCSC ID: ENST00000216252.4_7
RefSeq Accession: NM_032758.4
Protein: Q7RTV0 (aka PHF5A_HUMAN or PF5A_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.