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Aliases for PHF5A Gene

Aliases for PHF5A Gene

  • PHD Finger Protein 5A 2 3 5
  • PHD Finger-Like Domain Protein 5A 3 4
  • Splicing Factor 3b, Subunit 7 2 3
  • SF3b14b 3 4
  • PHD Finger-Like Domain-Containing Protein 5A 3
  • Splicing Factor 3B Associated 14 KDa Protein 3
  • Splicing Factor 3B-Associated 14 KDa Protein 4
  • PHD-Finger 5a 3
  • BK223H9.2 3
  • SAP14b 3
  • SF3B7 3
  • Rds3 3
  • INI 3

External Ids for PHF5A Gene

Previous GeneCards Identifiers for PHF5A Gene

  • GC22M038470
  • GC22M040098
  • GC22M040180
  • GC22M041855
  • GC22M024821

Summaries for PHF5A Gene

Entrez Gene Summary for PHF5A Gene

  • This gene encodes a subunit of the splicing factor 3b protein complex. Splicing factor 3b, together with splicing factor 3a and a 12S RNA unit, forms the U2 small nuclear ribonucleoproteins complex (U2 snRNP). The splicing factor 3b/3a complex binds pre-mRNA upstream of the intron's branch site in a sequence-independent manner and may anchor the U2 snRNP to the pre-mRNA. The protein encoded by this gene contains a PHD-finger-like domain that is flanked by highly basic N- and C-termini. This protein belongs to the PHD-finger superfamily and may act as a chromatin-associated protein. This gene has several pseudogenes on different chromosomes. [provided by RefSeq, Jul 2008]

GeneCards Summary for PHF5A Gene

PHF5A (PHD Finger Protein 5A) is a Protein Coding gene. Among its related pathways are mRNA Splicing - Major Pathway and Gene Expression. GO annotations related to this gene include poly(A) RNA binding and transcription factor activity, sequence-specific DNA binding.

UniProtKB/Swiss-Prot for PHF5A Gene

  • 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.

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PHF5A Gene

Genomics for PHF5A Gene

Regulatory Elements for PHF5A Gene

Enhancers for PHF5A Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH22G042077 1.2 ENCODE 42.2 -610.5 -610537 3.9 HDGF PKNOX1 CREB3L1 AGO1 WRNIP1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 SMDT1 EP300 CYP2D6 RPL5P34 PHF5A XRCC6 RN7SKP80 LOC100506679 TOB2 RRP7BP
GH22G041559 1.6 Ensembl ENCODE dbSUPER 31.3 -94.4 -94358 6.9 HDGF PKNOX1 ZFP64 ARID4B ZNF302 ZNF143 FOS ZNF263 SP3 ZNF662 EP300 XRCC6 PHF5A MEI1 POLR3H DNAJB7 CSDC2 TOB2 DESI1 SNU13
GH22G041666 1.4 Ensembl ENCODE 34 -198.7 -198719 2.5 HDGF PKNOX1 FOXA2 AGO1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 RN7SKP80 EP300 PHF5A RRP7BP MEI1 EP300-AS1 XRCC6 LOC100313968 ENSG00000232754 SNU13
GH22G041445 1.8 FANTOM5 ENCODE dbSUPER 25.4 +22.0 22010 5.9 MLX CREB3L1 AGO1 ZFP64 FEZF1 DMAP1 YBX1 YY1 SLC30A9 ZNF143 PHF5A EP300 MEI1 POLR3H ACO2 CYP2D8P NDUFA6-AS1 NAGA SMDT1 XRCC6
GH22G041961 0.9 ENCODE 40.3 -492.4 -492367 0.2 ZNF493 ZFP64 ZEB1 ZNF302 ZNF138 SCRT2 ZNF654 SP3 ZNF680 ZNF426 EP300 RN7SKP80 RPL5P34 PHF5A NDUFA6 XRCC6 RRP7BP SNU13 WBP2NL ENSG00000232754
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PHF5A on UCSC Golden Path with GeneCards custom track

Promoters for PHF5A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000146628 -375 1801 HDGF PKNOX1 CREB3L1 ARNT WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1

Genomic Location for PHF5A Gene

Chromosome:
22
Start:
41,459,717 bp from pter
End:
41,468,725 bp from pter
Size:
9,009 bases
Orientation:
Minus strand

Genomic View for PHF5A Gene

Genes around PHF5A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PHF5A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PHF5A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PHF5A Gene

Proteins for PHF5A Gene

  • Protein details for PHF5A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7RTV0-PHF5A_HUMAN
    Recommended name:
    PHD finger-like domain-containing protein 5A
    Protein Accession:
    Q7RTV0
    Secondary Accessions:
    • Q9UH06

    Protein attributes for PHF5A Gene

    Size:
    110 amino acids
    Molecular mass:
    12405 Da
    Quaternary structure:
    • 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 complex which is composed of at least eight subunits; SF3B1, SF3B2, SF3B3, SF3B4, SF3B5, SF3B6, PHF5A/SF3B14B, and DDX42/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.

    Three dimensional structures from OCA and Proteopedia for PHF5A Gene

neXtProt entry for PHF5A Gene

Post-translational modifications for PHF5A Gene

  • Ubiquitination at posLast=9595
  • Modification sites at PhosphoSitePlus

Other Protein References for PHF5A Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PHF5A Gene

Domains & Families for PHF5A Gene

Gene Families for PHF5A Gene

Protein Domains for PHF5A Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for PHF5A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q7RTV0

UniProtKB/Swiss-Prot:

PHF5A_HUMAN :
  • Belongs to the PHF5 family.
Family:
  • Belongs to the PHF5 family.
genes like me logo Genes that share domains with PHF5A: view

Function for PHF5A Gene

Molecular function for PHF5A Gene

UniProtKB/Swiss-Prot 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.

Gene Ontology (GO) - Molecular Function for PHF5A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0003700 transcription factor activity, sequence-specific DNA binding ISS --
GO:0003723 RNA binding IDA 22658674
genes like me logo Genes that share ontologies with PHF5A: view
genes like me logo Genes that share phenotypes with PHF5A: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PHF5A Gene

Localization for PHF5A Gene

Subcellular locations from UniProtKB/Swiss-Prot for PHF5A Gene

Nucleus. Nucleus speckle.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PHF5A gene
Compartment Confidence
nucleus 5
extracellular 2
cytosol 2

Gene Ontology (GO) - Cellular Components for PHF5A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
GO:0005681 spliceosomal complex IEA --
GO:0005686 U2 snRNP IDA 12234937
GO:0005689 U12-type spliceosomal complex IDA 15146077
genes like me logo Genes that share ontologies with PHF5A: view

Pathways & Interactions for PHF5A Gene

genes like me logo Genes that share pathways with PHF5A: view

Pathways by source for PHF5A Gene

1 KEGG pathway for PHF5A Gene

Gene Ontology (GO) - Biological Process for PHF5A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000398 mRNA splicing, via spliceosome TAS --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006397 mRNA processing IEA --
GO:0008380 RNA splicing IEA --
genes like me logo Genes that share ontologies with PHF5A: view

No data available for SIGNOR curated interactions for PHF5A Gene

Transcripts for PHF5A Gene

mRNA/cDNA for PHF5A Gene

Unigene Clusters for PHF5A Gene

PHD finger protein 5A:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PHF5A Gene

No ASD Table

Relevant External Links for PHF5A Gene

GeneLoc Exon Structure for
PHF5A
ECgene alternative splicing isoforms for
PHF5A

Expression for PHF5A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PHF5A Gene

Protein differential expression in normal tissues from HIPED for PHF5A Gene

This gene is overexpressed in Bone (7.9) and Breast (7.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PHF5A Gene



Protein tissue co-expression partners for PHF5A Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PHF5A Gene:

PHF5A

SOURCE GeneReport for Unigene cluster for PHF5A Gene:

Hs.474980

Evidence on tissue expression from TISSUES for PHF5A Gene

  • Intestine(4.2)
genes like me logo Genes that share expression patterns with PHF5A: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PHF5A Gene

Orthologs for PHF5A Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PHF5A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PHF5A 34 35
  • 100 (n)
oppossum
(Monodelphis domestica)
Mammalia PHF5A 35
  • 100 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PHF5A 35
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PHF5A 34 35
  • 94.85 (n)
cow
(Bos Taurus)
Mammalia PHF5A 34 35
  • 92.42 (n)
mouse
(Mus musculus)
Mammalia Phf5a 34 16 35
  • 91.52 (n)
rat
(Rattus norvegicus)
Mammalia Phf5a 34
  • 91.52 (n)
chicken
(Gallus gallus)
Aves PHF5A 34 35
  • 84.55 (n)
lizard
(Anolis carolinensis)
Reptilia PHF5A 35
  • 100 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia phf5a 34
  • 83.03 (n)
Str.6129 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.7202 34
zebrafish
(Danio rerio)
Actinopterygii phf5a 34 35
  • 84.85 (n)
-- 34
fruit fly
(Drosophila melanogaster)
Insecta CG9548 36 34 35
  • 81.35 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009905 34
  • 77.68 (n)
worm
(Caenorhabditis elegans)
Secernentea phf-5 34 35
  • 76.76 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ABR103C 34
  • 58.9 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RDS3 34 35 37
  • 57.37 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C15675g 34
  • 56.63 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT2G30000 34
  • 77.27 (n)
rice
(Oryza sativa)
Liliopsida Os05g0367000 34
  • 78.48 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 97 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU00348 34
  • 65.7 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes ini1 34
  • 62.86 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.13935 34
Species where no ortholog for PHF5A was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PHF5A Gene

ENSEMBL:
Gene Tree for PHF5A (if available)
TreeFam:
Gene Tree for PHF5A (if available)

Paralogs for PHF5A Gene

genes like me logo Genes that share paralogs with PHF5A: view

No data available for Paralogs for PHF5A Gene

Variants for PHF5A Gene

Sequence variations from dbSNP and Humsavar for PHF5A Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
rs1000007362 -- 41,465,916(+) AGGAC(A/G)ACATA intron-variant
rs1000121371 -- 41,459,283(+) CTCCC(A/G)TCTCA downstream-variant-500B
rs1000123302 -- 41,465,706(+) GAAAC(C/T)CCATC intron-variant
rs1000464580 -- 41,459,472(+) CCCAG(A/C)CTCCA downstream-variant-500B
rs1001000809 -- 41,463,547(+) ATGGT(A/G)AAACT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PHF5A Gene

Variant ID Type Subtype PubMed ID
nsv516925 CNV loss 19592680
nsv524585 CNV loss 19592680
nsv834207 CNV loss 17160897
nsv834208 CNV loss 17160897
nsv962799 CNV duplication 23825009

Variation tolerance for PHF5A Gene

Residual Variation Intolerance Score: 53.6% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PHF5A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PHF5A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PHF5A Gene

Disorders for PHF5A Gene

Relevant External Links for PHF5A

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PHF5A

No disorders were found for PHF5A Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PHF5A Gene

Publications for PHF5A Gene

  1. Characterization of novel SF3b and 17S U2 snRNP proteins, including a human Prp5p homologue and an SF3b DEAD-box protein. (PMID: 12234937) Will C.L. … Luehrmann R. (EMBO J. 2002) 2 3 4 64
  2. Complex assembly mechanism and an RNA-binding mode of the human p14-SF3b155 spliceosomal protein complex identified by NMR solution structure and functional analyses. (PMID: 18076038) Kuwasako K. … Yokoyama S. (Proteins 2008) 2 3 64
  3. The human 18S U11/U12 snRNP contains a set of novel proteins not found in the U2-dependent spliceosome. (PMID: 15146077) Will C.L. … Luehrmann R. (RNA 2004) 3 4 64
  4. A genome annotation-driven approach to cloning the human ORFeome. (PMID: 15461802) Collins J.E. … Dunham I. (Genome Biol. 2004) 3 4 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for PHF5A Gene

Sources for PHF5A Gene

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