Aliases for PHAX Gene

Aliases for PHAX Gene

  • Phosphorylated Adaptor For RNA Export 2 3 5
  • RNA U, Small Nuclear RNA Export Adaptor (Phosphorylation Regulated) 2 3
  • RNA U Small Nuclear RNA Export Adapter Protein 3 4
  • Phosphorylated Adapter RNA Export Protein 3 4
  • RNUXA 3 4
  • RNA U, Small Nuclear RNA Export Adapter (Phosphorylation Regulated) 3
  • FLJ13193 2
  • PHAX 5

External Ids for PHAX Gene

Previous HGNC Symbols for PHAX Gene

  • RNUXA

Previous GeneCards Identifiers for PHAX Gene

  • GC05P125570
  • GC05P126312
  • GC05P125967
  • GC05P126012
  • GC05P125964
  • GC05P121127

Summaries for PHAX Gene

GeneCards Summary for PHAX Gene

PHAX (Phosphorylated Adaptor For RNA Export) is a Protein Coding gene. Diseases associated with PHAX include Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant and Retinitis Pigmentosa 57. Among its related pathways are Transport of the SLBP independent Mature mRNA and Gene Expression. Gene Ontology (GO) annotations related to this gene include RNA binding and toxic substance binding.

UniProtKB/Swiss-Prot Summary for PHAX Gene

  • A phosphoprotein adapter involved in the XPO1-mediated U snRNA export from the nucleus. Bridge components required for U snRNA export, the cap binding complex (CBC)-bound snRNA on the one hand and the GTPase Ran in its active GTP-bound form together with the export receptor XPO1 on the other. Its phosphorylation in the nucleus is required for U snRNA export complex assembly and export, while its dephosphorylation in the cytoplasm causes export complex disassembly. It is recycled back to the nucleus via the importin alpha/beta heterodimeric import receptor. The directionality of nuclear export is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus. Its compartmentalized phosphorylation cycle may also contribute to the directionality of export. Binds strongly to m7G-capped U1 and U5 small nuclear RNAs (snRNAs) in a sequence-unspecific manner and phosphorylation-independent manner (By similarity). Plays also a role in the biogenesis of U3 small nucleolar RNA (snoRNA). Involved in the U3 snoRNA transport from nucleoplasm to Cajal bodies. Binds strongly to m7G-capped U3, U8 and U13 precursor snoRNAs and weakly to trimethylated (TMG)-capped U3, U8 and U13 snoRNAs. Binds also to telomerase RNA.

Gene Wiki entry for PHAX Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PHAX Gene

Genomics for PHAX Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PHAX Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05J126599 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 600.7 -0.1 -80 3.5 CTCF TEAD4 PRDM10 ZNF629 IKZF1 ZNF692 POLR2A BACH1 JUND FOXA1 PHAX ALDH7A1 RF00017-4855
GH05J126747 Enhancer 1.1 ENCODE dbSUPER 21.5 +147.4 147410 1.9 SP1 PRDM10 ZNF629 ZNF512 LEF1 IKZF1 BACH1 JUND STAT3 ZNF143 PHAX LMNB1 LMNB1-DT ALDH7A1 RNU6-752P RF00026-892 HSPE1P10 RF00017-4855 TEX43 RF00017-4856
GH05J126759 Promoter/Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 10.6 +160.8 160757 3.7 ATF7 PRDM10 ZNF629 BACH1 STAT3 JUND PRDM1 PHF21A PATZ1 TCF12 PRRC1 PHAX ALDH7A1 RF00017-4855 LMNB1 RF00017-4861 LMNB1-DT TEX43 RF00017-4856
GH05J126970 Enhancer 1.1 ENCODE dbSUPER 10.8 +371.0 370981 3.8 ATF7 PRDM10 LEF1 IKZF1 JUND DDX20 MTA2 PKNOX1 ZNF24 MTA1 MARCHF3 PRRC1 MEGF10 PHAX C5orf63 piR-57133-492 RF00017-4856 LMNB1
GH05J125657 Enhancer 0.8 Ensembl 11.8 -941.7 -941724 4 PRDM10 ZNF629 FOXA1 ZSCAN4 ZNF341 ZNF148 ZNF561 SCRT2 ZBTB44 ZNF639 PHAX RF00994-866 ENSG00000286111 ENSG00000248752 GRAMD2B ZNF608
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PHAX on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PHAX

Top Transcription factor binding sites by QIAGEN in the PHAX gene promoter:
  • CUTL1
  • GATA-2
  • GCNF
  • GCNF-1
  • GCNF-2
  • Ik-1
  • IRF-7A
  • PPAR-gamma1
  • PPAR-gamma2
  • SRY

Genomic Locations for PHAX Gene

Genomic Locations for PHAX Gene
chr5:126,600,925-126,627,252
(GRCh38/hg38)
Size:
26,328 bases
Orientation:
Plus strand
chr5:125,935,960-125,962,944
(GRCh37/hg19)
Size:
26,985 bases
Orientation:
Plus strand

Genomic View for PHAX Gene

Genes around PHAX on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for PHAX Gene

Proteins for PHAX Gene

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

    Protein Symbol:
    Q9H814-PHAX_HUMAN
    Recommended name:
    Phosphorylated adapter RNA export protein
    Protein Accession:
    Q9H814
    Secondary Accessions:
    • Q9H8W1

    Protein attributes for PHAX Gene

    Size:
    394 amino acids
    Molecular mass:
    44403 Da
    Quaternary structure:
    • Found in a U snRNA export complex with PHAX/RNUXA, NCBP1/CBP80, NCBP2/CBP20, RAN, XPO1 and m7G-capped RNA. Part of a precomplex with PHAX/RNUXA, NCBP1/CBP80, NCBP2/CBP20 and m7G-capped RNA. Interacts with NCBP1/CBP80 (By similarity). Found in a complex with snoRNA. Interacts with NCBP2/CBP20 (PubMed:26382858).

    Three dimensional structures from OCA and Proteopedia for PHAX Gene

neXtProt entry for PHAX Gene

Post-translational modifications for PHAX Gene

  • Phosphorylated in the nucleus. Dephosphorylated in the cytoplasm (By similarity).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PHAX Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PHAX Gene

Domains & Families for PHAX Gene

Gene Families for PHAX Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transporters

Protein Domains for PHAX Gene

Suggested Antigen Peptide Sequences for PHAX Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ57136, highly similar to RNA U small nuclear RNA export adapter protein (B4DPU2_HUMAN)
  • RNA U small nuclear RNA export adapter protein (PHAX_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9H814

UniProtKB/Swiss-Prot:

PHAX_HUMAN :
  • Belongs to the PHAX family.
Family:
  • Belongs to the PHAX family.
genes like me logo Genes that share domains with PHAX: view

Function for PHAX Gene

Molecular function for PHAX Gene

UniProtKB/Swiss-Prot Function:
A phosphoprotein adapter involved in the XPO1-mediated U snRNA export from the nucleus. Bridge components required for U snRNA export, the cap binding complex (CBC)-bound snRNA on the one hand and the GTPase Ran in its active GTP-bound form together with the export receptor XPO1 on the other. Its phosphorylation in the nucleus is required for U snRNA export complex assembly and export, while its dephosphorylation in the cytoplasm causes export complex disassembly. It is recycled back to the nucleus via the importin alpha/beta heterodimeric import receptor. The directionality of nuclear export is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus. Its compartmentalized phosphorylation cycle may also contribute to the directionality of export. Binds strongly to m7G-capped U1 and U5 small nuclear RNAs (snRNAs) in a sequence-unspecific manner and phosphorylation-independent manner (By similarity). Plays also a role in the biogenesis of U3 small nucleolar RNA (snoRNA). Involved in the U3 snoRNA transport from nucleoplasm to Cajal bodies. Binds strongly to m7G-capped U3, U8 and U13 precursor snoRNAs and weakly to trimethylated (TMG)-capped U3, U8 and U13 snoRNAs. Binds also to telomerase RNA.

Phenotypes From GWAS Catalog for PHAX Gene

Gene Ontology (GO) - Molecular Function for PHAX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IEA --
GO:0005515 protein binding IPI 26382858
GO:0015643 toxic substance binding IEA --
genes like me logo Genes that share ontologies with PHAX: view
genes like me logo Genes that share phenotypes with PHAX: view

Animal Model Products

CRISPR Products

miRNA for PHAX Gene

miRTarBase miRNAs that target PHAX

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PHAX

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

Localization for PHAX Gene

Subcellular locations from UniProtKB/Swiss-Prot for PHAX Gene

Nucleus, nucleoplasm. Nucleus, Cajal body. Cytoplasm. Note=Located in the nucleoplasm and Cajal bodies. Shuttles between the nucleus and the cytoplasm. Shuttles between the nucleoplasm and Cajal bodies. {ECO:0000269 PubMed:11333016, ECO:0000269 PubMed:15574332}.

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 PHAX gene
Compartment Confidence
nucleus 5
cytoskeleton 4
cytosol 4
extracellular 1
mitochondrion 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PHAX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA 21873635
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IEA --
GO:0005813 centrosome IDA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with PHAX: view

Pathways & Interactions for PHAX Gene

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

Pathways by source for PHAX Gene

Gene Ontology (GO) - Biological Process for PHAX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006408 snRNA export from nucleus IBA,TAS 16687569
GO:0015031 protein transport IEA --
GO:0042795 snRNA transcription by RNA polymerase II TAS --
GO:0051168 nuclear export TAS --
genes like me logo Genes that share ontologies with PHAX: view

No data available for SIGNOR curated interactions for PHAX Gene

Drugs & Compounds for PHAX Gene

(1) Drugs for PHAX Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine triphosphate Experimental Pharma 0
genes like me logo Genes that share compounds with PHAX: view

Transcripts for PHAX Gene

mRNA/cDNA for PHAX Gene

1 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PHAX

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

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5
SP1:
SP2:

Relevant External Links for PHAX Gene

GeneLoc Exon Structure for
PHAX

Expression for PHAX Gene

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

Protein differential expression in normal tissues from HIPED for PHAX Gene

This gene is overexpressed in Lung (39.0).

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



Protein tissue co-expression partners for PHAX Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PHAX

SOURCE GeneReport for Unigene cluster for PHAX Gene:

Hs.744042

Evidence on tissue expression from TISSUES for PHAX Gene

  • Skin(4.8)
  • Nervous system(4.6)
  • Liver(4.3)
  • Lung(3.6)
  • Pancreas(3.5)
  • Blood(3.4)
  • Kidney(2.9)
  • Eye(2.1)
  • Bone(2)
genes like me logo Genes that share expression patterns with PHAX: view

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 PHAX Gene

Orthologs for PHAX Gene

This gene was present in the common ancestor of animals.

Orthologs for PHAX Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia PHAX 30 31
  • 99.66 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia PHAX 30 31
  • 90.32 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia PHAX 30 31
  • 89.76 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Phax 30
  • 83.59 (n)
Mouse
(Mus musculus)
Mammalia Phax 30 17 31
  • 83.33 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia PHAX 31
  • 77 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia PHAX 31
  • 72 (a)
OneToOne
Chicken
(Gallus gallus)
Aves PHAX 30 31
  • 74.39 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia PHAX 31
  • 71 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia phax 30
  • 63.4 (n)
Zebrafish
(Danio rerio)
Actinopterygii phax 30 31
  • 59.37 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta Phax 31
  • 24 (a)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea Y71H2B.2 31
  • 21 (a)
OneToOne
Species where no ortholog for PHAX was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • 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 (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for PHAX Gene

ENSEMBL:
Gene Tree for PHAX (if available)
TreeFam:
Gene Tree for PHAX (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PHAX: view image

Paralogs for PHAX Gene

Pseudogenes.org Pseudogenes for PHAX Gene

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

No data available for Paralogs for PHAX Gene

Variants for PHAX Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PHAX Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
691477 Uncertain Significance: Hirschsprung disease 126,603,852(+) C/T NONSENSE
723334 Likely Benign: not provided 126,603,920(+) C/T SYNONYMOUS_VARIANT
rs3734173 - p.Arg82Cys

Additional dbSNP identifiers (rs#s) for PHAX Gene

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

Variant ID Type Subtype PubMed ID
esv3606679 CNV gain 21293372
esv3606680 CNV gain 21293372
esv3606684 CNV loss 21293372
nsv1030016 CNV gain 25217958
nsv462442 CNV gain 19166990
nsv599662 CNV gain 21841781

Variation tolerance for PHAX Gene

Residual Variation Intolerance Score: 37.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.51; 77.67% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PHAX Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for PHAX Gene

MalaCards: The human disease database

(2) MalaCards diseases for PHAX Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards
Search PHAX in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with PHAX: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PHAX Gene

Publications for PHAX Gene

  1. mRNA export through an additional cap-binding complex consisting of NCBP1 and NCBP3. (PMID: 26382858) Gebhardt A … Pichlmair A (Nature communications 2015) 3 4
  2. Structure and RNA recognition by the snRNA and snoRNA transport factor PHAX. (PMID: 20430857) Mourão A … Sattler M (RNA (New York, N.Y.) 2010) 3 4
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  5. Assembly and maturation of the U3 snoRNP in the nucleoplasm in a large dynamic multiprotein complex. (PMID: 15574333) Watkins NJ … Lührmann R (Molecular cell 2004) 3 4

Products for PHAX Gene

Sources for PHAX Gene