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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
  • RNUXA 3 4
  • RNA U, Small Nuclear RNA Export Adapter (Phosphorylation Regulated) 3
  • Phosphorylated Adapter RNA Export Protein 3

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. Among its related pathways are Gene Expression and RNA transport. GO annotations related to this gene include RNA binding and toxic substance binding.

UniProtKB/Swiss-Prot 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 , fRNAdb sequence ontologies and piRNA Summary for PHAX Gene

Genomics for PHAX Gene

Regulatory Elements for PHAX Gene

Enhancers for PHAX 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
GH05G126747 1.5 Ensembl ENCODE dbSUPER 21.5 +148.1 148068 1.9 PKNOX1 CREB3L1 ARNT ZNF766 CBX5 ZNF143 FOS JUNB TBX21 ZNF592 PHAX LOC102723557 LMNB1 ALDH7A1 RNU6-752P GC05P126739
GH05G126759 1.7 FANTOM5 Ensembl ENCODE dbSUPER 10.6 +161.4 161415 3.7 HDGF PKNOX1 CBX5 ZNF202 JUNB TSHZ1 ZNF623 TBX21 ZNF518A SMARCA4 CCDC192 PHAX ALDH7A1 RNU6-752P LMNB1
GH05G126543 1 ENCODE dbSUPER 11.2 -56.4 -56370 0.9 CTCF MXI1 FOXA2 SAP130 MLX MAX RAD21 NCOR1 ZNF143 HNF4G ALDH7A1 PHAX RPLP1P7 TEX43 ENSG00000250602 GRAMD2B GC05M126556 ENSG00000279118
GH05G126664 0.9 ENCODE 12.3 +64.6 64646 1.5 PKNOX1 ARNT FEZF1 ZNF2 ZNF121 TSHZ1 MYNN GLIS1 WT1 PRDM4 ALDH7A1 TEX43 RPLP1P7 PHAX BOLA3P3 LOC105379162
GH05G126787 0.8 dbSUPER 10.5 +189.6 189600 4.4 HDGF FEZF1 ZNF2 ZNF121 ZFHX2 FOS IKZF2 ZNF433 EGR2 ZNF680 RNU6-752P PHAX MARCH3 CCDC192 ALDH7A1 LOC102723557 GC05M126868
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PHAX on UCSC Golden Path with GeneCards custom track

Promoters for PHAX Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000186402 1032 1401 HDGF PKNOX1 CREB3L1 AGO1 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1

Genomic Location for PHAX Gene

Chromosome:
5
Start:
126,600,268 bp from pter
End:
126,627,252 bp from pter
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

Protein Domains for PHAX Gene

InterPro:
ProtoNet:

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

No data available for Gene Families for PHAX Gene

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.

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

Clone Products

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
cytosol 5
cytoskeleton 4

Gene Ontology (GO) - Cellular Components for PHAX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
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 TAS 16687569
GO:0006810 transport IEA --
GO:0015031 protein transport IEA --
GO:0042795 snRNA transcription from RNA polymerase II promoter 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 :
(6) Additional mRNA sequences :
(5) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for PHAX Gene

Phosphorylated adaptor for RNA export:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

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
ECgene alternative splicing isoforms for
PHAX

Expression for PHAX Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for PHAX Gene



Protein tissue co-expression partners for PHAX Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PHAX Gene:

PHAX

SOURCE GeneReport for Unigene cluster for PHAX Gene:

Hs.744042

Evidence on tissue expression from TISSUES for PHAX Gene

  • Skin(4.7)
  • Nervous system(4.5)
  • Liver(4.3)
  • Lung(3.6)
  • Pancreas(3.5)
  • Blood(2.9)
  • Kidney(2.2)
  • Eye(2.1)
genes like me logo Genes that share expression patterns with PHAX: 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 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 34 35
  • 99.66 (n)
dog
(Canis familiaris)
Mammalia PHAX 34 35
  • 90.32 (n)
cow
(Bos Taurus)
Mammalia PHAX 34 35
  • 89.76 (n)
rat
(Rattus norvegicus)
Mammalia Phax 34
  • 83.59 (n)
mouse
(Mus musculus)
Mammalia Phax 34 16 35
  • 83.33 (n)
oppossum
(Monodelphis domestica)
Mammalia PHAX 35
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PHAX 35
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves PHAX 34 35
  • 74.39 (n)
lizard
(Anolis carolinensis)
Reptilia PHAX 35
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia phax 34
  • 63.4 (n)
zebrafish
(Danio rerio)
Actinopterygii phax 34 35
  • 59.37 (n)
fruit fly
(Drosophila melanogaster)
Insecta Phax 35
  • 24 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea Y71H2B.2 35
  • 21 (a)
OneToOne
Species where no ortholog for PHAX was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

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 from dbSNP and Humsavar for PHAX Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs1000018620 -- 126,611,357(+) CCTCC(A/G)AATTT intron-variant
rs1000190028 -- 126,600,010(+) CAAGC(A/G)TTAGG upstream-variant-2KB
rs1000259292 -- 126,605,002(+) GCACT(C/T)CAGCC intron-variant
rs1000292256 -- 126,624,062(+) GGAGT(A/G)CAGTG intron-variant
rs1000609958 -- 126,605,258(+) CTGGG(C/T)TTAAG intron-variant

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)

Relevant External Links for PHAX Gene

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

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

Disorders for PHAX Gene

Relevant External Links for PHAX

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PHAX

No disorders were found for PHAX Gene.

No data available for MalaCards , 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. (Nat Commun 2015) 3 4 64
  2. Structure and RNA recognition by the snRNA and snoRNA transport factor PHAX. (PMID: 20430857) Mourao A. … Sattler M. (RNA 2010) 3 4 64
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  4. 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
  5. PHAX and CRM1 are required sequentially to transport U3 snoRNA to nucleoli. (PMID: 15574332) Boulon S. … Bertrand E. (Mol. Cell 2004) 3 4 64

Products for PHAX Gene

Sources for PHAX Gene

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