XPO5 exportin 5 [Homo sapiens (human)] - Gene

Summary

Official Symbol: XPO5provided by HGNC
Official Full Name: exportin 5provided by HGNC
Primary source: HGNC:HGNC:17675
See related: Ensembl:ENSG00000124571 MIM:607845; AllianceGenome:HGNC:17675
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: exp5
Summary: This gene encodes a member of the karyopherin family that is required for the transport of small RNAs and double-stranded RNA-binding proteins from the nucleus to the cytoplasm. The encoded protein translocates cargo through the nuclear pore complex in a RanGTP-dependent process. [provided by RefSeq, Aug 2011]
Expression: Broad expression in testis (RPKM 18.4), thyroid (RPKM 10.1) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6p21.1

Exon count:: 33

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (43522334..43576038, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (43351073..43404771, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (43490072..43543775, complement)

Chromosome 6 - NC_000006.12 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?

Lipid kinase PIP5K1A regulates let-7 microRNA biogenesis through interacting with nuclear export protein XPO5.
Title: Lipid kinase PIP5K1A regulates let-7 microRNA biogenesis through interacting with nuclear export protein XPO5.
Investigation of the association of the RAN (rs14035) and XPO5 (rs11077) polymorphisms with venous thromboembolism.
Title: Investigation of the association of the RAN (rs14035) and XPO5 (rs11077) polymorphisms with venous thromboembolism.
Amyotrophic Lateral Sclerosis-Associated Mutants of SOD1 Modulate miRNA Biogenesis through Aberrant Interactions with Exportin 5.
Title: Amyotrophic Lateral Sclerosis-Associated Mutants of SOD1 Modulate miRNA Biogenesis through Aberrant Interactions with Exportin 5.
Mutation in XPO5 causes adult-onset autosomal dominant familial focal segmental glomerulosclerosis.
Title: Mutation in XPO5 causes adult-onset autosomal dominant familial focal segmental glomerulosclerosis.
The impact of Dicer, Drosha, and Exportin-5 levels in polycystic ovary syndrome (PCOS) diagnosis and phenotyping.
Title: The impact of Dicer, Drosha, and Exportin-5 levels in polycystic ovary syndrome (PCOS) diagnosis and phenotyping.
Effects of Knockdown of XPO5 by siRNA on the Biological Behavior of Head and Neck Cancer Cells.
Title: Effects of Knockdown of XPO5 by siRNA on the Biological Behavior of Head and Neck Cancer Cells.
Selectivity of Exportin 5 binding to human precursor microRNAs.
Title: Selectivity of Exportin 5 binding to human precursor microRNAs.
Analysis of microRNA processing machinery gene (DROSHA, DICER1, RAN, and XPO5) variants association with end-stage renal disease.
Title: Analysis of microRNA processing machinery gene (DROSHA, DICER1, RAN, and XPO5) variants association with end-stage renal disease.
Association between Genetic Polymorphisms in microRNA Machinery Genes and Risk of Papillary Thyroid Carcinoma.
Title: Association between Genetic Polymorphisms in microRNA Machinery Genes and Risk of Papillary Thyroid Carcinoma.
Exportin-5 SUMOylation promotes hepatocellular carcinoma progression.
Title: Exportin-5 SUMOylation promotes hepatocellular carcinoma progression.

Submit: New GeneRIF Correction See all GeneRIFs (49)

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 5 (XPO5) 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-107161 (e-PCR)
- UniSTS:170276

D6S1340 (e-PCR)
- UniSTS:21838

D6S1161E (e-PCR)
- UniSTS:67687

MARC_10377-10378:999102157:1 (e-PCR)
- UniSTS:267123

D6S1888 (e-PCR)
- UniSTS:65163

D6S271 (e-PCR), detects polymorphism
- UniSTS:2491

D6S271 (e-PCR), detects polymorphism
- UniSTS:84167

D6S271 (e-PCR), detects polymorphism
- UniSTS:35821

RH18413 (e-PCR)
- UniSTS:20974

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RISC complex binding	IDA Inferred from Direct Assay more info	PubMed
enables RNA binding	HDA more info	PubMed
enables RNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA binding	TAS Traceable Author Statement more info
enables mRNA binding	IDA Inferred from Direct Assay more info	PubMed
enables nuclear export signal receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables nuclear export signal receptor activity	IMP Inferred from Mutant Phenotype more info	PubMed
contributes_to pre-miRNA binding	IDA Inferred from Direct Assay more info	PubMed
enables pre-miRNA binding	IDA Inferred from Direct Assay more info	PubMed
enables pre-miRNA binding	NAS Non-traceable Author Statement 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
enables small GTPase binding	IPI Inferred from Physical Interaction more info	PubMed
enables tRNA binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in RNA export from nucleus	IBA Inferred from Biological aspect of Ancestor more info
involved_in miRNA metabolic process	TAS Traceable Author Statement more info
involved_in pre-miRNA export from nucleus	IDA Inferred from Direct Assay more info	PubMed
involved_in pre-miRNA export from nucleus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in pre-miRNA export from nucleus	NAS Non-traceable Author Statement more info	PubMed
involved_in protein export from nucleus	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
part_of RISC complex	IDA Inferred from Direct Assay more info	PubMed
part_of RNA nuclear export complex	IBA Inferred from Biological aspect of Ancestor more info
part_of RNA nuclear export complex	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement 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
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: exportin-5

Names: ran-binding protein 21

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.

Genomic

NG_051658.1 RefSeqGene

Range

5038..58742

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_020750.3 → NP_065801.1 exportin-5

See identical proteins and their annotated locations for NP_065801.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the protein-coding transcript.

Source sequence(s)

AB033117, AF298880, BF108994, DB068849

Consensus CDS

CCDS47430.1

UniProtKB/Swiss-Prot

Q5JTE6, Q96G48, Q96HN3, Q9BWM6, Q9BZV5, Q9H9M4, Q9HAV4, Q9NT89, Q9NW39, Q9ULC9

UniProtKB/TrEMBL

A8K5Y7

Related

ENSP00000265351.7, ENST00000265351.12

RNA

NR_144392.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (2) contains an alternate exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AL355802, KF458158, KF510953