Human Gene PHAX (ENST00000297540.5_4) from GENCODE V47lift37
  Description: phosphorylated adaptor for RNA export (from RefSeq NM_032177.4)
Gencode Transcript: ENST00000297540.5_4
Gencode Gene: ENSG00000164902.14_7
Transcript (Including UTRs)
   Position: hg19 chr5:125,936,639-125,962,944 Size: 26,306 Total Exon Count: 5 Strand: +
Coding Region
   Position: hg19 chr5:125,936,655-125,960,536 Size: 23,882 Coding Exon Count: 5 

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 (chr5:125,936,639-125,962,944)mRNA (may differ from genome)Protein (394 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: PHAX_HUMAN
DESCRIPTION: RecName: Full=Phosphorylated adapter RNA export protein; AltName: Full=RNA U small nuclear RNA export adapter protein;
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.
SUBUNIT: Found in a U snRNA export complex with PHAX/RNUXA, NCBP1, NCBP2, RAN, XPO1 and m7G-capped RNA. Part of a precomplex with PHAX/RNUXA, NCBP1, NCBP2 and m7G-capped RNA. Interacts with NCBP1 (By similarity). Found in a complex with snoRNA.
SUBCELLULAR LOCATION: 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.
PTM: Phosphorylated in the nucleus. Dephosphorylated in the cytoplasm (By similarity). Phosphorylated upon DNA damage, probably by ATM or ATR.
PTM: Phosphorylated upon DNA damage, probably by ATM or ATR.
SIMILARITY: Belongs to the PHAX 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

+  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: 11.95 RPKM in Cells - Cultured fibroblasts
Total median expression: 331.88 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 -1.8016-0.112 Picture PostScript Text
3' UTR -915.402408-0.380 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
IPR019385 - PHAX_RNA-binding_domain

Pfam Domains:
PF10258 - PHAX RNA-binding domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2XC7 - NMR MuPIT


ModBase Predicted Comparative 3D Structure on Q9H814
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 BrowserNo ortholog
Gene DetailsGene Details Gene DetailsGene Details 
Gene SorterGene Sorter Gene SorterGene Sorter 
 RGDEnsembl WormBase 
    Protein Sequence 
    Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003723 RNA binding
GO:0005515 protein binding
GO:0015643 toxic substance binding

Biological Process:
GO:0006408 snRNA export from nucleus
GO:0015031 protein transport
GO:0042795 snRNA transcription from RNA polymerase II promoter
GO:0051168 nuclear export

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005813 centrosome
GO:0005829 cytosol
GO:0015030 Cajal body
GO:0043025 neuronal cell body


-  Descriptions from all associated GenBank mRNAs
  AK023255 - Homo sapiens cDNA FLJ13193 fis, clone NT2RP3004348, moderately similar to R.norvegicus mRNA for cytosolic resiniferatoxin-binding protein.
BC021161 - Homo sapiens phosphorylated adaptor for RNA export, mRNA (cDNA clone MGC:14968 IMAGE:3833896), complete cds.
AK298497 - Homo sapiens cDNA FLJ57136 complete cds, highly similar to RNA U small nuclear RNA export adapter protein.
AK024065 - Homo sapiens cDNA FLJ14003 fis, clone Y79AA1002311, moderately similar to R.norvegicus mRNA for cytosolic resiniferatoxin-binding protein.
AK225464 - Homo sapiens mRNA for RNA U, small nuclear RNA export adaptor variant, clone: HSI08232.
DQ896542 - Synthetic construct Homo sapiens clone IMAGE:100011002; FLH195294.01L; RZPDo839A11151D likely ortholog of mouse phosphorylated adaptor for RNA export (PHAX) gene, encodes complete protein.
DQ893213 - Synthetic construct clone IMAGE:100005843; FLH195298.01X; RZPDo839A11152D likely ortholog of mouse phosphorylated adaptor for RNA export (PHAX) gene, encodes complete protein.
KJ904762 - Synthetic construct Homo sapiens clone ccsbBroadEn_14156 PHAX gene, encodes complete protein.
CR457305 - Homo sapiens full open reading frame cDNA clone RZPDo834A1213D for gene PHAX, likely ortholog of mouse phosphorylated adaptor for RNA export; complete cds, incl. stopcodon.
JD095523 - Sequence 76547 from Patent EP1572962.
JD301127 - Sequence 282151 from Patent EP1572962.
JD237677 - Sequence 218701 from Patent EP1572962.
JD087276 - Sequence 68300 from Patent EP1572962.
JD314772 - Sequence 295796 from Patent EP1572962.
JD198051 - Sequence 179075 from Patent EP1572962.
JD413340 - Sequence 394364 from Patent EP1572962.
JD246848 - Sequence 227872 from Patent EP1572962.
JD101716 - Sequence 82740 from Patent EP1572962.
JD166465 - Sequence 147489 from Patent EP1572962.
JD564296 - Sequence 545320 from Patent EP1572962.
JD558239 - Sequence 539263 from Patent EP1572962.
JD522246 - Sequence 503270 from Patent EP1572962.
JD556291 - Sequence 537315 from Patent EP1572962.
JD319166 - Sequence 300190 from Patent EP1572962.
JD104125 - Sequence 85149 from Patent EP1572962.
JD107011 - Sequence 88035 from Patent EP1572962.
JD208789 - Sequence 189813 from Patent EP1572962.
JD112159 - Sequence 93183 from Patent EP1572962.
JD359854 - Sequence 340878 from Patent EP1572962.
JD489632 - Sequence 470656 from Patent EP1572962.
JD119476 - Sequence 100500 from Patent EP1572962.
JD536487 - Sequence 517511 from Patent EP1572962.
JD536488 - Sequence 517512 from Patent EP1572962.
JD459648 - Sequence 440672 from Patent EP1572962.
JD459649 - Sequence 440673 from Patent EP1572962.
JD238523 - Sequence 219547 from Patent EP1572962.
JD238524 - Sequence 219548 from Patent EP1572962.
JD204568 - Sequence 185592 from Patent EP1572962.
JD430288 - Sequence 411312 from Patent EP1572962.
JD557443 - Sequence 538467 from Patent EP1572962.
JD529367 - Sequence 510391 from Patent EP1572962.
JD169603 - Sequence 150627 from Patent EP1572962.
JD169601 - Sequence 150625 from Patent EP1572962.
JD169602 - Sequence 150626 from Patent EP1572962.
JD306280 - Sequence 287304 from Patent EP1572962.
JD055154 - Sequence 36178 from Patent EP1572962.
JD036189 - Sequence 17213 from Patent EP1572962.
JD125567 - Sequence 106591 from Patent EP1572962.
JD125568 - Sequence 106592 from Patent EP1572962.
JD395392 - Sequence 376416 from Patent EP1572962.
JD275173 - Sequence 256197 from Patent EP1572962.
JD275174 - Sequence 256198 from Patent EP1572962.
JD072780 - Sequence 53804 from Patent EP1572962.
JD059847 - Sequence 40871 from Patent EP1572962.
JD374529 - Sequence 355553 from Patent EP1572962.
JD336379 - Sequence 317403 from Patent EP1572962.
JD070509 - Sequence 51533 from Patent EP1572962.
JD398727 - Sequence 379751 from Patent EP1572962.
JD398726 - Sequence 379750 from Patent EP1572962.
JD150810 - Sequence 131834 from Patent EP1572962.
JD150809 - Sequence 131833 from Patent EP1572962.
JD134336 - Sequence 115360 from Patent EP1572962.
JD447579 - Sequence 428603 from Patent EP1572962.
JD342290 - Sequence 323314 from Patent EP1572962.
JD480518 - Sequence 461542 from Patent EP1572962.
JD255531 - Sequence 236555 from Patent EP1572962.
JD276447 - Sequence 257471 from Patent EP1572962.
JD272853 - Sequence 253877 from Patent EP1572962.
JD351101 - Sequence 332125 from Patent EP1572962.
JD098516 - Sequence 79540 from Patent EP1572962.
JD142921 - Sequence 123945 from Patent EP1572962.
JD431033 - Sequence 412057 from Patent EP1572962.
JD053739 - Sequence 34763 from Patent EP1572962.
JD375915 - Sequence 356939 from Patent EP1572962.
JD422501 - Sequence 403525 from Patent EP1572962.
JD404884 - Sequence 385908 from Patent EP1572962.
JD454120 - Sequence 435144 from Patent EP1572962.
JD376111 - Sequence 357135 from Patent EP1572962.
JD497853 - Sequence 478877 from Patent EP1572962.
JD543410 - Sequence 524434 from Patent EP1572962.
JD543411 - Sequence 524435 from Patent EP1572962.
JD543412 - Sequence 524436 from Patent EP1572962.
JD478680 - Sequence 459704 from Patent EP1572962.
JD152700 - Sequence 133724 from Patent EP1572962.
JD481551 - Sequence 462575 from Patent EP1572962.
JD533694 - Sequence 514718 from Patent EP1572962.
JD373404 - Sequence 354428 from Patent EP1572962.
JD340640 - Sequence 321664 from Patent EP1572962.
JD553854 - Sequence 534878 from Patent EP1572962.
JD053568 - Sequence 34592 from Patent EP1572962.
JD095399 - Sequence 76423 from Patent EP1572962.
JD427053 - Sequence 408077 from Patent EP1572962.
JD545971 - Sequence 526995 from Patent EP1572962.
JD487957 - Sequence 468981 from Patent EP1572962.
JD370315 - Sequence 351339 from Patent EP1572962.
JD102132 - Sequence 83156 from Patent EP1572962.
JD327722 - Sequence 308746 from Patent EP1572962.
JD327723 - Sequence 308747 from Patent EP1572962.
JD565686 - Sequence 546710 from Patent EP1572962.
JD537381 - Sequence 518405 from Patent EP1572962.
JD194816 - Sequence 175840 from Patent EP1572962.
JD243111 - Sequence 224135 from Patent EP1572962.
JD084156 - Sequence 65180 from Patent EP1572962.
JD246671 - Sequence 227695 from Patent EP1572962.
JD100395 - Sequence 81419 from Patent EP1572962.
JD057129 - Sequence 38153 from Patent EP1572962.
JD092320 - Sequence 73344 from Patent EP1572962.
JD523356 - Sequence 504380 from Patent EP1572962.
JD558953 - Sequence 539977 from Patent EP1572962.
JD406685 - Sequence 387709 from Patent EP1572962.
JD461281 - Sequence 442305 from Patent EP1572962.
JD537884 - Sequence 518908 from Patent EP1572962.
JD461282 - Sequence 442306 from Patent EP1572962.
JD353528 - Sequence 334552 from Patent EP1572962.
JD546344 - Sequence 527368 from Patent EP1572962.
JD156874 - Sequence 137898 from Patent EP1572962.
JD221964 - Sequence 202988 from Patent EP1572962.
JD230017 - Sequence 211041 from Patent EP1572962.
JD260822 - Sequence 241846 from Patent EP1572962.
JD083662 - Sequence 64686 from Patent EP1572962.
JD110199 - Sequence 91223 from Patent EP1572962.
JD155804 - Sequence 136828 from Patent EP1572962.
JD155805 - Sequence 136829 from Patent EP1572962.
JD292537 - Sequence 273561 from Patent EP1572962.
JD185292 - Sequence 166316 from Patent EP1572962.
JD185296 - Sequence 166320 from Patent EP1572962.
JD074590 - Sequence 55614 from Patent EP1572962.
JD185299 - Sequence 166323 from Patent EP1572962.
JD185300 - Sequence 166324 from Patent EP1572962.
JD185298 - Sequence 166322 from Patent EP1572962.
JD185297 - Sequence 166321 from Patent EP1572962.
JD366272 - Sequence 347296 from Patent EP1572962.
JD051525 - Sequence 32549 from Patent EP1572962.
JD366282 - Sequence 347306 from Patent EP1572962.
JD411174 - Sequence 392198 from Patent EP1572962.
JD366280 - Sequence 347304 from Patent EP1572962.
JD366281 - Sequence 347305 from Patent EP1572962.
JD366279 - Sequence 347303 from Patent EP1572962.
JD366278 - Sequence 347302 from Patent EP1572962.
JD149289 - Sequence 130313 from Patent EP1572962.
JD149295 - Sequence 130319 from Patent EP1572962.
JD149296 - Sequence 130320 from Patent EP1572962.
JD517382 - Sequence 498406 from Patent EP1572962.
JD116840 - Sequence 97864 from Patent EP1572962.
AF086448 - Homo sapiens full length insert cDNA clone ZD82B02.

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

Protein Q9H814 (Reactome details) participates in the following event(s):

R-HSA-6814885 CBCAP complex binds 7-methylguanosine cap of snRNA
R-HSA-191825 Nuclear export of snRNA transcripts
R-HSA-6807505 RNA polymerase II transcribes snRNA genes
R-HSA-191859 snRNP Assembly
R-HSA-73857 RNA Polymerase II Transcription
R-HSA-194441 Metabolism of non-coding RNA
R-HSA-74160 Gene expression (Transcription)
R-HSA-8953854 Metabolism of RNA

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000297540.1, ENST00000297540.2, ENST00000297540.3, ENST00000297540.4, NM_032177, PHAX_HUMAN, Q9H814, Q9H8W1, RNUXA, uc317maw.1, uc317maw.2
UCSC ID: ENST00000297540.5_4
RefSeq Accession: NM_032177.4
Protein: Q9H814 (aka PHAX_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.