XPO6 exportin 6 [Homo sapiens (human)] - Gene

Summary

Official Symbol: XPO6provided by HGNC
Official Full Name: exportin 6provided by HGNC
Primary source: HGNC:HGNC:19733
See related: Ensembl:ENSG00000169180 MIM:608411; AllianceGenome:HGNC:19733
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: EXP6; RANBP20
Summary: The protein encoded by this gene is a member of the importin-beta family. Members of this family are regulated by the GTPase Ran to mediate transport of cargo across the nuclear envelope. This protein has been shown to mediate nuclear export of profilin-actin complexes. A pseudogene of this gene is located on the long arm of chromosome 14. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Aug 2012]
Expression: Ubiquitous expression in testis (RPKM 30.3), spleen (RPKM 24.2) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 16p12.1

Exon count:: 25

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (28097976..28211965, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (28378417..28492441, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (28109297..28223286, complement)

Chromosome 16 - NC_000016.10 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: 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?

Cancer-associated exportin-6 upregulation inhibits the transcriptionally repressive and anticancer effects of nuclear profilin-1.
Title: Cancer-associated exportin-6 upregulation inhibits the transcriptionally repressive and anticancer effects of nuclear profilin-1.
The XPO6 Exportin Mediates Herpes Simplex Virus 1 gM Nuclear Release Late in Infection.
Title: The XPO6 Exportin Mediates Herpes Simplex Virus 1 gM Nuclear Release Late in Infection.
These results shed light on the crucial role of LN1 in quiescence and differentiation and how defects in the LN1/PI3K/XPO6/N-actin axis explain the loss of tissue homeostasis and growth control that contributes to malignant progression.
Title: Laminin-111 and the Level of Nuclear Actin Regulate Epithelial Quiescence via Exportin-6.
potential prognostic biomarker for predicting prostate cancer recurrence [meta-analysis]
Title: Elevated XPO6 expression as a potential prognostic biomarker for prostate cancer recurrence.
Data suggest actin accumulation in senescent cells is due to the failure of RanGTP restoration with ATP deficiency and NTF2 accumulation, resulting in decreased actin export via Exp6 inactivation.
Title: Reduction of exportin 6 activity leads to actin accumulation via failure of RanGTP restoration and NTF2 sequestration in the nuclei of senescent cells.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
identify exportin 6 (Exp6) as a novel family member from higher eukaryotes and show that it mediates nuclear export of profilin.actin complexes
Title: Exportin 6: a novel nuclear export receptor that is specific for profilin.actin complexes.

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

G36825 (e-PCR)
- UniSTS:43321

XPO6__4913 (e-PCR)
- UniSTS:462949

AFM234XE9 (e-PCR)
- UniSTS:72062

SHGC-141994 (e-PCR)
- UniSTS:174014

D16S721 (e-PCR)
- UniSTS:149731

SHGC-6754 (e-PCR)
- UniSTS:27875

RH125206 (e-PCR)
- UniSTS:162028

RH11596 (e-PCR)
- UniSTS:86526

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
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	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
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
located_in cytoplasm	IC Inferred by Curator more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in nucleolus	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleus	IC Inferred by Curator more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info
part_of protein-containing complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: exportin-6

Names: ran-binding protein 20

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.

mRNA and Protein(s)

NM_001270940.2 → NP_001257869.1 exportin-6 isoform 1

See identical proteins and their annotated locations for NP_001257869.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes isoform (1).

Source sequence(s)

AB002368, AC136611, AK026172, AK123846, AY026388, BI465054, BX346769

Consensus CDS

CCDS59266.1

UniProtKB/TrEMBL

B3KW08

Related

ENSP00000457341.1, ENST00000565698.5

Conserved Domains (2) summary

smart00913
Location:17 → 82

IBN_N; Importin-beta N-terminal domain

pfam08389
Location:89 → 263

Xpo1; Exportin 1-like protein
NM_015171.4 → NP_055986.1 exportin-6 isoform 2

See identical proteins and their annotated locations for NP_055986.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate exon in the 5' UTR and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is longer than isoform 1.

Source sequence(s)

AB002368, AC136611, AK026172, AY026388, BI465054, BX346769

Consensus CDS

CCDS42135.1

UniProtKB/Swiss-Prot

A1L3W4, D3DWF9, Q2YDX3, Q53G88, Q68G50, Q76N88, Q96CP8, Q96QU8, Q9BT21

UniProtKB/TrEMBL

B7ZM10

Related

ENSP00000302790.4, ENST00000304658.10

Conserved Domains (2) summary

smart00913
Location:31 → 96

IBN_N; Importin-beta N-terminal domain

pfam08389
Location:103 → 253

Xpo1; Exportin 1-like protein