XPO4 exportin 4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: XPO4provided by HGNC
Official Full Name: exportin 4provided by HGNC
Primary source: HGNC:HGNC:17796
See related: Ensembl:ENSG00000132953 MIM:611449; AllianceGenome:HGNC:17796
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: exp4
Summary: XPO4 belongs to a large family of karyopherins (see MIM 602738) that mediate the transport of proteins and other cargo between the nuclear and cytoplasmic compartments (Lipowsky et al., 2000 [PubMed 10944119]).[supplied by OMIM, Mar 2009]
Expression: Ubiquitous expression in thyroid (RPKM 3.0), heart (RPKM 2.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 13q12.11

Exon count:: 31

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	13	NC_000013.11 (20777329..20902774, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	13	NC_060937.1 (19970477..20095920, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	13	NC_000013.10 (21351468..21476913, complement)

Chromosome 13 - NC_000013.11 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: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Exportin 4 DNA promoter methylation in liver fibrosis.
Title: Exportin 4 DNA promoter methylation in liver fibrosis.
Copy number variation and expression of exportin-4 associates with severity of fibrosis in metabolic associated fatty liver disease.
Title: Copy number variation and expression of exportin-4 associates with severity of fibrosis in metabolic associated fatty liver disease.
Molecular structure of the exportin Xpo4 in complex with RanGTP and the hypusine-containing translation factor eIF5A has been reported.
Title: Structure of the exportin Xpo4 in complex with RanGTP and the hypusine-containing translation factor eIF5A.
XPO4 copy number variation duplication was associated with histological severity of non-alcoholic fatty liver disease.
Title: Copy number variation in exportin-4 (XPO4) gene and its association with histological severity of non-alcoholic fatty liver disease.
Knockdown of exportins 4, 5, and 7 altered thyroid hormone receptor shuttling dynamics, and when exportins 5 and 7 were overexpressed, TR distribution shifted toward the cytosol.
Title: Multiple exportins influence thyroid hormone receptor localization.
Methylation status of XPO4 in peripheral blood mononuclear cells (PBMCs) tended to be a noninvasive biomarker to predict hepatocellular carcinoma (HCC) and the progression of hepatitis B virus (HBV)infection.
Title: Exportin 4 gene expression and DNA promoter methylation status in chronic hepatitis B virus infection.
These results demonstrate that Exp4 acts as a Sox9 co-regulator that directly regulates binding of Sox9 to its target genes.
Title: Exportin 4 interacts with Sox9 through the HMG Box and inhibits the DNA binding of Sox9.
Data suggest that XPO4 could be involved in the progression of human hepatocellular carcinoma.
Title: Decreased expression of XPO4 is associated with poor prognosis in hepatocellular carcinoma.
Observational study of gene-disease association. (HuGE Navigator)
Title: Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.
A short peptide representing the minimal interaction domain in Smad3 effectively competes with Smad3 association to exportin 4 and blocks nuclear export of Smad3 in vivo.
Title: The mechanism of nuclear export of Smad3 involves exportin 4 and Ran.

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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)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Vpu	vpu	HIV-1 Vpu is identified to have a physical interaction with exportin 4 (XPO4) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-85047 (e-PCR)
- UniSTS:103436

D8S2278 (e-PCR)
- UniSTS:473906

L18426 (e-PCR)
- UniSTS:34648

G27736 (e-PCR)
- UniSTS:21342

D15S1477 (e-PCR)
- UniSTS:474482

RH68088 (e-PCR)
- UniSTS:46981

RH91537 (e-PCR)
- UniSTS:86964

D13S1691 (e-PCR)
- UniSTS:3769

GDB:335751 (e-PCR)
- UniSTS:156601

SHGC-142462 (e-PCR)
- UniSTS:171470

RH103175 (e-PCR)
- UniSTS:97508

G20400 (e-PCR)
- UniSTS:17638

A005P28 (e-PCR)
- UniSTS:17639

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables nuclear export signal receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables nuclear export signal receptor activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables small GTPase binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in positive regulation of protein export from nucleus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein export from nucleus	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein export from nucleus	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info
part_of nuclear pore	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
is_active_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: exportin-4

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.