IPO13 importin 13 [Homo sapiens (human)] - Gene

Summary

Official Symbol: IPO13provided by HGNC
Official Full Name: importin 13provided by HGNC
Primary source: HGNC:HGNC:16853
See related: Ensembl:ENSG00000117408 MIM:610411; AllianceGenome:HGNC:16853
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: LGL2; IMP13; KAP13; RANBP13
Summary: This gene encodes a member of the importin-beta family of nuclear transport proteins. The encoded protein mediates the import of specific cargo proteins from the cytoplasm to the nucleus and is dependent on the Ras-related nuclear protein-GTPase system. The encoded protein is also involved in nuclear export of the eukaryotic translation initiation factor 1A.[provided by RefSeq, Mar 2009]
Expression: Broad expression in testis (RPKM 29.4), brain (RPKM 19.8) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p34.1

Exon count:: 21

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (43946950..43968022)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (43818031..43839101)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (44412622..44433694)

Chromosome 1 - NC_000001.11 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: 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?

The Nuclear Transporter Importin 13 Can Regulate Stress-Induced Cell Death through the Clusterin/KU70 Axis.
Title: The Nuclear Transporter Importin 13 Can Regulate Stress-Induced Cell Death through the Clusterin/KU70 Axis.
Nuclear transporter Importin-13 plays a key role in the oxidative stress transcriptional response.
Title: Nuclear transporter Importin-13 plays a key role in the oxidative stress transcriptional response.
Importin 13 promotes NSCLC progression by mediating RFPL3 nuclear translocation and hTERT expression upregulation.
Title: Importin 13 promotes NSCLC progression by mediating RFPL3 nuclear translocation and hTERT expression upregulation.
This study reports the identification of mutation (c.331C>T, p.R111C) in the IPO13 gene in a consanguineous family with ocular coloboma, microphthalmia, and cataract by a combination of whole-exome sequencing and homozygosity mapping.
Title: Mutation of IPO13 causes recessive ocular coloboma, microphthalmia, and cataract.
this study significantly expands the repertoire of importin 13 cargoes and sets the basis for a more detailed characterization of this extremely versatile transport receptor.
Title: Extensive Identification and In-depth Validation of Importin 13 Cargoes.
This is the first report that IPO13 can be phosphorylated at Ser193 and that this modification regulates IPO13 subcellular localization and nucleocytoplasmic transport function, with important implications for IPO13's role in development and other processes.
Title: PKA-site phosphorylation of importin13 regulates its subcellular localization and nuclear transport function.
The anti- glucocorticoid receptor effect of respiratory syncytial virus was mediated by viral nonstructural protein 1, which likely functioned by competing with IPO13 for glucocorticoid receptor binding.
Title: Respiratory Syncytial Virus Nonstructural Protein 1 Blocks Glucocorticoid Receptor Nuclear Translocation by Targeting IPO13 and May Account for Glucocorticoid Insensitivity.
IPO13 influenced intracellular distribution of CTCF.
Title: CCCTC-binding factor controls its own nuclear transport via regulating the expression of importin 13.
IPO13 may contribute to the pathogenesis of pterygium via modulation of K17 and c-Jun.
Title: Increased importin 13 activity is associated with the pathogenesis of pterygium.
Imp13 is able to bind and export eIF1A in vivo and that its function is essential.
Title: Structural basis for the nuclear export activity of Importin13.

Submit: New GeneRIF Correction See all GeneRIFs (18)

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

MARC4093-4094 (e-PCR)
- UniSTS:207119

MARC_4093-4094:996679370:1 (e-PCR)
- UniSTS:207119

SHGC-74711 (e-PCR)
- UniSTS:75286

D1S280E (e-PCR)
- UniSTS:147531

HSCZOA042 (e-PCR)
- UniSTS:30046

SHGC-145624 (e-PCR)
- UniSTS:174688

D1S280E (e-PCR)
- UniSTS:13460

RH67811 (e-PCR)
- UniSTS:86688

SHGC-36789 (e-PCR)
- UniSTS:55740

G44713 (e-PCR)
- UniSTS:95188

D1S280E (e-PCR)
- UniSTS:147435

Tjp1 (e-PCR), detects polymorphism
- UniSTS:144635

MARC_17364-17365:1033586704:3 (e-PCR)
- UniSTS:268285

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
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 import into nucleus	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within protein import into 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 nucleus	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: importin-13

Names: Ran binding protein 13; karyopherin 13; late gestation lung 2; ran-binding protein 13

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_014652.4 → NP_055467.3 importin-13

See identical proteins and their annotated locations for NP_055467.3

Status: REVIEWED

Source sequence(s)

AB018267, AL357079, BX116797

Consensus CDS

CCDS503.1

UniProtKB/Swiss-Prot

D3DPY4, O94829, Q5T4X3, Q7LC04, Q96HS3, Q9H8N3, Q9UFR1

UniProtKB/TrEMBL

A8K2A8

Related

ENSP00000361418.3, ENST00000372343.8

Conserved Domains (5) summary

smart00913
Location:45 → 109

IBN_N; Importin-beta N-terminal domain

pfam08389
Location:117 → 263

Xpo1; Exportin 1-like protein

pfam18773
Location:402 → 441

Importin_rep; Importin 13 repeat

pfam18786
Location:584 → 627

Importin_rep_2; Importin 13 repeat

pfam18806
Location:826 → 900

Importin_rep_3; Importin 13 repeat