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 centrosome and nucleoplasm. Part of ribonucleoprotein complex. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in brain (RPKM 11.7), endometrium (RPKM 7.4) and 25 other tissues See more
Orthologs: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 5q23.2

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (126600947..126627252)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (127117809..127144117)
105.20220307	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

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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

Go to the top of the page Help

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

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

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

Go to the top of the page Help

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)

Go to the top of the page Help

NEW Try the new Transcript table

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.