KPNA3 karyopherin subunit alpha 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: KPNA3provided by HGNC
Official Full Name: karyopherin subunit alpha 3provided by HGNC
Primary source: HGNC:HGNC:6396
See related: Ensembl:ENSG00000102753 MIM:601892; AllianceGenome:HGNC:6396
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: SRP1; SRP4; IPOA4; SPG88; hSRP1; SRP1gamma
Summary: The transport of molecules between the nucleus and the cytoplasm in eukaryotic cells is mediated by the nuclear pore complex (NPC), which consists of 60-100 proteins. Small molecules (up to 70 kD) can pass through the nuclear pore by nonselective diffusion while larger molecules are transported by an active process. The protein encoded by this gene belongs to the importin alpha family, and is involved in nuclear protein import. [provided by RefSeq, Jan 2009]
Expression: Ubiquitous expression in testis (RPKM 17.5), brain (RPKM 15.2) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 13q14.2

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	13	NC_000013.11 (49699320..49792682, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	13	NC_060937.1 (48918230..49011561, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	13	NC_000013.10 (50273456..50366818, complement)

Chromosome 13 - NC_000013.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

SIRT1 promotes the progression and chemoresistance of colorectal cancer through the p53/miR-101/KPNA3 axis.
Title: SIRT1 promotes the progression and chemoresistance of colorectal cancer through the p53/miR-101/KPNA3 axis.
KPNA3 promotes epithelial-mesenchymal transition by regulating TGF-beta and AKT signaling pathways in MDA-MB-231, a triple-negative breast cancer cell line.
Title: KPNA3 promotes epithelial-mesenchymal transition by regulating TGF-β and AKT signaling pathways in MDA-MB-231, a triple-negative breast cancer cell line.
Dominant KPNA3 Mutations Cause Infantile-Onset Hereditary Spastic Paraplegia.
Title: Dominant KPNA3 Mutations Cause Infantile-Onset Hereditary Spastic Paraplegia.
Increased expression of KPNA3 was observed in colorectal cancer (CRC) along with that of DLEU1 and associated with lower survival rate and poorer prognosis. Its expression is promoted by DLEU1 which recruits SMARCA1 in CRC.
Title: LncRNA DLEU1 contributes to colorectal cancer progression via activation of KPNA3.
Studied the role of KPNA3 (karyopherin subunit alpha 3) in nuclear transport of ataxin-3 in spinocerebellar ataxia type 3.
Title: Karyopherin α-3 is a key protein in the pathogenesis of spinocerebellar ataxia type 3 controlling the nuclear localization of ataxin-3.
These results suggest that the Japanese encephalitis virus NS5 inhibits the induction of type I interferon by targeting KPNA3 and KPNA4.
Title: Japanese Encephalitis Virus NS5 Inhibits Type I Interferon (IFN) Production by Blocking the Nuclear Translocation of IFN Regulatory Factor 3 and NF-κB.
Karyopherin alpha 3 and karyopherin alpha 4 proteins mediate the nuclear import of methyl-CpG binding protein 2.
Title: Karyopherin α 3 and karyopherin α 4 proteins mediate the nuclear import of methyl-CpG binding protein 2.
SNP rs2273816 is significantly associated with schizophrenia, opiate dependence and alcohol dependence at the genotype and allele level
Title: KPNA3 variation is associated with schizophrenia, major depression, opiate dependence and alcohol dependence.
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
Title: A combined effect of the KPNA3 and KPNB3 genes on susceptibility to schizophrenia.
The present study suggests that the KPNA3 may contribute genetically to schizophrenia in a small effect size.
Title: The KPNA3 gene may be a susceptibility candidate for schizophrenia.

Submit: New GeneRIF Correction See all GeneRIFs (11)

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

Associated conditions

Description	Tests
Spastic paraplegia 88, autosomal dominant MedGen: C5774247 OMIM: 620106 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. EBI GWAS Catalog EBI GWAS CatalogPubMed

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
integrase	gag-pol	Karyopherin alpha and beta are reported to interact with HIV-1 integrase (IN) to facilitate nuclear import of IN, however a conflicting report indicates nuclear accumulation of IN does not involve karyopherin alpha, beta 1, or beta 2 mediated pathways	PubMed
	gag-pol	HIV-1 IN interacts with importin alpha by the BiFC assay and amino acids 161-173 in IN are required for the interaction with importin alpha	PubMed
	gag-pol	HIV-1 Rev disrupts both IN-TNPO3 and IN-importin alpha complexes	PubMed
	gag-pol	Some reports indicate a possible role for the interactions between karyopherin alpha and beta with HIV-1 integrase in the nuclear import of HIV-1 preintegration complexes (PIC), while other reports indicate integrase is not involved in PIC nuclear import	PubMed
	gag-pol	Karyopherin alpha binds to a bipartite nuclear localization signal in HIV-1 integrase (amino acids 186-189 and 211-219)	PubMed
matrix	gag	Nuclear import of HIV-1 preintegration complexes by karyopherin alpha is governed by phosphorylation of HIV-1 Matrix on tyrosine and serine, however the exact role of phosphorylation of the C-terminal tyrosine of Matrix has been debated	PubMed
	gag	HIV-1 Matrix increases intracellular ATP content, an effect hypothesized to support the ATP-dependent nuclear import of HIV-1 preintegration complexes by karyopherin alpha	PubMed
	gag	HIV-1 Vpr increases the affinity of karyopherin alpha to the HIV-1 Matrix nuclear localization signal, thereby mediating the nuclear import of HIV-1 preintegration complexes	PubMed
	gag	Hsp70 stimulates the binding of HIV-1 matrix to karyopherin alpha	PubMed
	gag	The role of HIV-1 Matrix during nuclear import of the HIV-1 preintegration complex has been controversial, however recent understanding indicates HIV-1 Matrix and Vpr proteins act in concert to facilitate nuclear import by binding to karyopherin alpha	PubMed
	gag	HIV-1 Matrix contains two nuclear localization signals (NLS) spanning amino acids 24-33 and 110-114 that are recognized by karyopherin alpha and mediate the nuclear import of HIV-1 preintegration complexes	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

EST9H12 (e-PCR)
- UniSTS:263444

G43604 (e-PCR)
- UniSTS:95039

SHGC-2160 (e-PCR)
- UniSTS:86113

D13S663E (e-PCR)
- UniSTS:153194

RH103323 (e-PCR)
- UniSTS:97654

MARC_17027-17028:1023293711:3 (e-PCR)
- UniSTS:268189

MARC_17027-17028:1032295869:3 (e-PCR)
- UniSTS:268189

D13S862E (e-PCR)
- UniSTS:64419

D13S825E (e-PCR)
- UniSTS:151502

KPNA3 (e-PCR)
- UniSTS:505312

KPNA3_1525 (e-PCR)
- UniSTS:462306

KPNA3_v515 (e-PCR)
- UniSTS:462306

D13S273 (e-PCR), detects polymorphism
- UniSTS:39164

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables nuclear import signal receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables nuclear localization sequence binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in NLS-bearing protein import into nucleus	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein import into nucleus	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein-containing complex assembly	TAS Traceable Author Statement more info	PubMed
involved_in symbiont entry into host cell	IEA Inferred from Electronic Annotation more info
involved_in viral penetration into host nucleus	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of NLS-dependent protein nuclear import complex	IPI Inferred from Physical Interaction more info	PubMed
located_in cytosol	NAS Non-traceable Author Statement more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in host cell	IEA Inferred from Electronic Annotation more info
part_of nuclear pore	TAS Traceable Author Statement more info	PubMed
is_active_in nucleoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleoplasm	NAS Non-traceable Author Statement more info	PubMed
located_in nucleoplasm	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: importin subunit alpha-4

Names: SRP1-gamma; importin alpha 4; importin alpha Q2; importin alpha-3; importin subunit alpha-3; karyopherin alpha 3 (importin alpha 4); qip2

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_002267.4 → NP_002258.2 importin subunit alpha-4

See identical proteins and their annotated locations for NP_002258.2

Status: REVIEWED

Source sequence(s)

AI309735, AK291000, AU132188, BC035090, DN991804

Consensus CDS

CCDS9421.1

UniProtKB/Swiss-Prot

O00191, O00505, O43195, Q5JVM9, Q8IYQ9, Q96AA7

UniProtKB/TrEMBL

Q53F09

Related

ENSP00000261667.3, ENST00000261667.8

Conserved Domains (2) summary

COG5064
Location:2 → 521

SRP1; Karyopherin (importin) alpha [Intracellular trafficking and secretion]

sd00043
Location:109 → 142

ARM; armadillo repeat [structural motif]

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000013.11 Reference GRCh38.p14 Primary Assembly

Range

49699320..49792682 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017020561.2 → XP_016876050.1 importin subunit alpha-4 isoform X1

UniProtKB/TrEMBL

Q53F09

Conserved Domains (2) summary

COG5064
Location:1 → 497

SRP1; Karyopherin (importin) alpha [Intracellular trafficking and secretion]

sd00043
Location:85 → 118

ARM; armadillo repeat [structural motif]