PHF5A [The Human Chemical-Genetic Interaction Map Project]

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======= PHF5A =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: PHF5A
  * **<color #00a2e8>Official Name</color>**: PHD finger protein 5A
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=84844|84844]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q7RTV0|Q7RTV0]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=PHF5A&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20PHF5A|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/617846|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**: N/A
  * **<color #00a2e8>UniProt Summary</color>**:  Involved with the PAF1 complex (PAF1C) in transcriptional elongation by RNA polymerase II, and in regulation of development and maintenance of embryonic stem cell (ESC) pluripotency. Required for maintenance of ESCs self-renewal and cellular reprogramming of stem cells. Maintains pluripotency by recruiting and stabilizing PAF1C on pluripotency genes loci, and by regulating the expression of the pluripotency genes. 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. 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. Regulates muscle specification in adult stem cells by stabilizing PAF1C in chromatin to promote myogenic differentiation (By similarity). Involved in pre-mRNA splicing as a component of the splicing factor SF3B complex (PubMed:27720643, PubMed:28541300). SF3B complex is required for 'A' complex assembly formed by the stable binding of U2 snRNP to the branchpoint sequence (BPS) in pre-mRNA. Sequence independent binding of SF3A/SF3B complex upstream of the branch site is essential, it may anchor U2 snRNP to the pre-mRNA (PubMed:12234937). 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:27720643, ECO:0000269|PubMed:28541300}.

<button type='primary' size='sm' modal='Pfam_Domains'>Pfam Domains</button>
<button type='primary' size='sm' modal='GO_terms'>GO Terms</button>


<modal id='Pfam_Domains' size='lg' title='Pfam Domains'>
|PHF5|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|U2 snRNP|
|U12-type spliceosomal complex|
|U2-type precatalytic spliceosome|
|nuclear matrix|
|mRNA splicing, via spliceosome|
|RNA splicing, via transesterification reactions with bulged adenosine as nucleophile|
|RNA splicing, via transesterification reactions|
|RNA splicing|
|nuclear speck|
|mRNA processing|
|DNA-binding transcription factor activity|
|mRNA metabolic process|
|RNA processing|
|RNA binding|
|DNA binding|
|positive regulation of transcription, DNA-templated|
|positive regulation of nucleic acid-templated transcription|
|positive regulation of RNA biosynthetic process|
|RNA metabolic process|
|positive regulation of RNA metabolic process|
|positive regulation of nucleobase-containing compound metabolic process|
|positive regulation of macromolecule biosynthetic process|
|positive regulation of cellular biosynthetic process|
|positive regulation of gene expression|
|gene expression|
|positive regulation of biosynthetic process|
</modal>
\\

 === CRISPR Data ===
<button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button>
<button type='primary' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button>
<button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button>

<modal id='Compound_Hit' size='lg' title='Compound Hit'>
^Screen^Score^
|[[:results:exp452|Azithromycin 100μM R08 exp452]]|-2.74|
|[[:results:exp125|GSK461364A 0.005μM R03 exp125]]|-2.16|
|[[:results:exp448|Ammonium tetrathiomolybdate 10μM R08 exp448]]|-2.05|
|[[:results:exp24|Nocodazole 0.2μM R00 exp24]]|-1.82|
|[[:results:exp103|Taxol 0.004μM R03 exp103]]|-1.8|
|[[:results:exp6|Bortezomib 0.005μM R00 exp6]]|-1.73|
|[[:results:exp477|DKK1 89ng/ml R08 exp477]]|1.71|
|[[:results:exp122|Golgicide-A 4μM R03 exp122]]|1.74|
|[[:results:exp494|Isoniazid 100μM R08 exp494]]|1.79|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
^Gene^Correlation^
|[[:human genes:s:sf3b2|SF3B2]]|0.4|
</modal>

<modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'>
Global Fraction of Cell Lines Where Essential: 726/726
^Tissue^Fraction Of Cell Lines Where Essential^
|1290807.0|1/1|
|909776.0|1/1|
|bile duct|28/28|
|blood|28/28|
|bone|25/25|
|breast|33/33|
|central nervous system|56/56|
|cervix|4/4|
|colorectal|17/17|
|esophagus|13/13|
|fibroblast|1/1|
|gastric|15/15|
|kidney|21/21|
|liver|20/20|
|lung|75/75|
|lymphocyte|14/14|
|ovary|26/26|
|pancreas|24/24|
|peripheral nervous system|16/16|
|plasma cell|15/15|
|prostate|1/1|
|skin|24/24|
|soft tissue|7/7|
|thyroid|2/2|
|upper aerodigestive|22/22|
|urinary tract|29/29|
|uterus|5/5|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 179
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 5.68 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='PHF5A Expression in NALM6 Cells: 5.68'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>