PHAX phosphorylated adaptor for RNA export [Homo sapiens (human)] - Gene

Summary

Official Symbol: PHAXprovided by HGNC
Official Full Name: phosphorylated adaptor for RNA exportprovided by HGNC
Primary source: HGNC:HGNC:10241
See related: Ensembl:ENSG00000164902 MIM:604924; AllianceGenome:HGNC:10241
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: RNUXA
Summary: Enables mRNA cap binding complex binding activity. Involved in RNA stabilization. Located in nucleoplasm. Part of ribonucleoprotein complex. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in brain (RPKM 11.7), endometrium (RPKM 7.4) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 5q23.2

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (126600947..126627252)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (127117809..127144117)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (125936639..125962944)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

TRIM24 Cooperates with Ras Mutation to Drive Glioma Progression through snoRNA Recruitment of PHAX and DNA-PKcs.
Title: TRIM24 Cooperates with Ras Mutation to Drive Glioma Progression through snoRNA Recruitment of PHAX and DNA-PKcs.
The RNA transport factor PHAX is required for proper histone H2AX expression and DNA damage response.
Title: The RNA transport factor PHAX is required for proper histone H2AX expression and DNA damage response.
PHAX RNA-binding domain mediates auxiliary RNA contracts with small nuclear and mall nucleolar RNA substrates.
Title: Structure and RNA recognition by the snRNA and snoRNA transport factor PHAX.
PHAX and CRM1 have roles in transporting U3 snoRNA to nucleoli
Title: PHAX and CRM1 are required sequentially to transport U3 snoRNA to nucleoli.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

GDB:434012 (e-PCR)
- UniSTS:157204

D10S275 (e-PCR)
- UniSTS:147992

A008R20 (e-PCR)
- UniSTS:5760

G42194 (e-PCR)
- UniSTS:105112

SHGC-57751 (e-PCR)
- UniSTS:46751

L17971 (e-PCR)
- UniSTS:43966

RH102904 (e-PCR)
- UniSTS:97238

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	IEA Inferred from Electronic Annotation more info
enables mRNA cap binding complex binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables toxic substance binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in RNA stabilization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein transport	IEA Inferred from Electronic Annotation more info
involved_in snRNA export from nucleus	IBA Inferred from Biological aspect of Ancestor more info
involved_in snRNA export from nucleus	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in Cajal body	IEA Inferred from Electronic Annotation more info
located_in cytosol	TAS Traceable Author Statement more info
located_in neuronal cell body	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
part_of ribonucleoprotein complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: phosphorylated adapter RNA export protein

Names: RNA U small nuclear RNA export adapter protein; RNA U, small nuclear RNA export adapter (phosphorylation regulated); RNA U, small nuclear RNA export adaptor (phosphorylation regulated)

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.