KPNB1 karyopherin subunit beta 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: KPNB1provided by HGNC
Official Full Name: karyopherin subunit beta 1provided by HGNC
Primary source: HGNC:HGNC:6400
See related: Ensembl:ENSG00000108424 MIM:602738; AllianceGenome:HGNC:6400
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: IMB1; IPO1; IPOB; Impnb; NTF97
Summary: Nucleocytoplasmic transport, a signal- and energy-dependent process, takes place through nuclear pore complexes embedded in the nuclear envelope. The import of proteins containing a nuclear localization signal (NLS) requires the NLS import receptor, a heterodimer of importin alpha and beta subunits also known as karyopherins. Importin alpha binds the NLS-containing cargo in the cytoplasm and importin beta docks the complex at the cytoplasmic side of the nuclear pore complex. In the presence of nucleoside triphosphates and the small GTP binding protein Ran, the complex moves into the nuclear pore complex and the importin subunits dissociate. Importin alpha enters the nucleoplasm with its passenger protein and importin beta remains at the pore. Interactions between importin beta and the FG repeats of nucleoporins are essential in translocation through the pore complex. The protein encoded by this gene is a member of the importin beta family. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2013]
Expression: Ubiquitous expression in testis (RPKM 74.8), appendix (RPKM 47.4) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17q21.32

Exon count:: 23

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (47649919..47685505)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (48511703..48547295)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (45727285..45762871)

Chromosome 17 - NC_000017.11 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: 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?

Stabilization of KPNB1 by deubiquitinase USP7 promotes glioblastoma progression through the YBX1-NLGN3 axis.
Title: Stabilization of KPNB1 by deubiquitinase USP7 promotes glioblastoma progression through the YBX1-NLGN3 axis.
Human RTEL1 Interacts with KPNB1 (Importin beta) and NUP153 and Connects Nuclear Import to Nuclear Envelope Stability in S-Phase.
Title: Human RTEL1 Interacts with KPNB1 (Importin β) and NUP153 and Connects Nuclear Import to Nuclear Envelope Stability in S-Phase.
MicroRNA-130a-3p impedes the progression of papillary thyroid carcinoma through downregulation of KPNB1 by targeting PSME3.
Title: MicroRNA-130a-3p impedes the progression of papillary thyroid carcinoma through downregulation of KPNB1 by targeting PSME3.
KPNB1-mediated nuclear import in cancer.
Title: KPNB1-mediated nuclear import in cancer.
Tumor-promoting properties of karyopherin beta1 in melanoma by stabilizing Ras-GTPase-activating protein SH3 domain-binding protein 1.
Title: Tumor-promoting properties of karyopherin β1 in melanoma by stabilizing Ras-GTPase-activating protein SH3 domain-binding protein 1.
A mass spectrometry-based approach for the identification of Kpnbeta1 binding partners in cancer cells.
Title: A mass spectrometry-based approach for the identification of Kpnβ1 binding partners in cancer cells.
CircKPNB1 mediates a positive feedback loop and promotes the malignant phenotypes of GSCs via TNF-alpha/NF-kappaB signaling.
Title: CircKPNB1 mediates a positive feedback loop and promotes the malignant phenotypes of GSCs via TNF-α/NF-κB signaling.
PCDH1 promotes progression of pancreatic ductal adenocarcinoma via activation of NF-kappaB signalling by interacting with KPNB1.
Title: PCDH1 promotes progression of pancreatic ductal adenocarcinoma via activation of NF-κB signalling by interacting with KPNB1.
Inhibition of NUPR1-Karyopherin beta1 Binding Increases Anticancer Drug Sensitivity.
Title: Inhibition of NUPR1-Karyopherin β1 Binding Increases Anticancer Drug Sensitivity.
Antivirals that target the host IMPalpha/beta1-virus interface.
Title: Antivirals that target the host IMPα/β1-virus interface.

Submit: New GeneRIF Correction See all GeneRIFs (84)

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

EBI GWAS Catalog

Description
Genetic Loci Associated with Circulating Levels of Very Long-Chain Saturated Fatty Acids. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci. 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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Replication interactions

Interaction	Pubs
Knockdown of karyopherin (importin) beta 1 (KPNB1) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1	PubMed

Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	Tandem affinity purification and mass spectrometry analysis identify karyopherin/importin beta 1 (KPNB1; nuclear factor p97), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells	PubMed
Gag-Pol	gag-pol	Tandem affinity purification and mass spectrometry analysis identify karyopherin/importin beta 1 (KPNB1; nuclear factor p97), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells	PubMed
Nef	nef	Tandem affinity purification and mass spectrometry analysis identify karyopherin/importin beta 1 (KPNB1; nuclear factor p97), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells	PubMed
Rev	rev	HIV-1 Rev interacting protein, karyopherin (importin) beta 1, is identified by the in-vitro binding experiments involving cytosolic or nuclear extracts from HeLa cells	PubMed
	rev	HIV-1 Rev nuclear import mediated by importin beta is selectively blocked by competitive excess of HIC in a cell-specific fashion	PubMed
	rev	importin beta can inhibit the interaction of HIV-1 Rev with HIV-1 RRE RNA	PubMed
	rev	importin beta specifically binds to the Rev nuclear localization signal (NLS, amino acids 35-50) and mediates the nuclear import of Rev	PubMed
Tat	tat	HIV-1 and the viral protein Tat modulate the expression of karyopherin (importin) beta 1 (KPNB1) in immature dendritic cells and monocyte-derived macrophages	PubMed
	tat	HIV-1 Tat downregulates karyopherin (importin) beta 1 in HEK 293T cells	PubMed
	tat	HIV-1 Tat peptide (amino-acids 47-57) binds to importin alpha and beta receptors	PubMed
	tat	Importin beta binds to the HIV-1 Tat protein nuclear localization signal (NLS; amino acids 49-57) and mediates the nuclear import of Tat through a novel import pathway	PubMed
	tat	The binding of HIV-1 Tat with importin beta is inhibited by RanGTP	PubMed
Vpr	vpr	HIV-1 Vpr causes increased levels of CyclinB1, Plk1, and Cdk1 in a complex with the nuclear transport and spindle assembly protein, importin beta	PubMed
	vpr	HIV-1 Vpr co-localizes with karyopherin beta and regulates karyopherin beta-mediated docking of the HIV-1 preintegration complex at the nuclear envelope, however multiple reports indicate the two proteins do not directly interact	PubMed
integrase	gag-pol	Ivermectin, an inhibitor of importin alpha/beta1, inhibits HIV-1 infection by blocking the HIV-1 Integrase interaction with importin alpha/beta1 for viral protein nuclear import	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 beta binds to complexes between HIV-1 integrase (integrase/GST fusion protein) and karyopherin alpha, but not to integrase alone	PubMed
	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
matrix	gag	Karyopherin beta mediates the nuclear import of HIV-1 preintegration complexes through karyopherin alpha, which binds directly to nuclear localization signals in HIV-1 Matrix	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

RH119587 (e-PCR)
- UniSTS:132670

D11S4360 (e-PCR)
- UniSTS:154700

STS-H47054 (e-PCR)
- UniSTS:79462

RH68781 (e-PCR)
- UniSTS:84862

SHGC-2553 (e-PCR)
- UniSTS:84945

KPNB1_2429 (e-PCR)
- UniSTS:280815

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables Hsp90 protein binding	IEA Inferred from Electronic Annotation more info
enables RNA binding	HDA more info	PubMed
enables enzyme binding	IPI Inferred from Physical Interaction more info	PubMed
enables importin-alpha family protein binding	IEA Inferred from Electronic Annotation more info
enables nuclear import signal receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables nuclear import signal receptor activity	IDA Inferred from Direct Assay more info	PubMed
enables nuclear import signal receptor activity	ISS Inferred from Sequence or Structural Similarity 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
enables protein domain specific binding	IPI Inferred from Physical Interaction more info	PubMed
enables small GTPase binding	IEA Inferred from Electronic Annotation more info
enables zinc ion binding	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in NLS-bearing protein import into nucleus	IDA Inferred from Direct Assay more info	PubMed
involved_in NLS-bearing protein import into nucleus	ISS Inferred from Sequence or Structural Similarity more info
involved_in RNA import into nucleus	IDA Inferred from Direct Assay more info	PubMed
involved_in astral microtubule organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in establishment of mitotic spindle localization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitotic chromosome movement towards spindle pole	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitotic metaphase chromosome alignment	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitotic spindle assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cholesterol biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info
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
involved_in protein import into nucleus	IDA Inferred from Direct Assay more info	PubMed
involved_in protein import into nucleus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein import into nucleus	ISS Inferred from Sequence or Structural Similarity more info
involved_in ribosomal protein import into nucleus	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
part_of NLS-dependent protein nuclear import complex	IPI Inferred from Physical Interaction more info	PubMed
part_of NLS-dependent protein nuclear import complex	ISS Inferred from Sequence or Structural Similarity more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
is_active_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
located_in cytoplasmic stress granule	ISS Inferred from Sequence or Structural Similarity more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	NAS Non-traceable Author Statement more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in endoplasmic reticulum tubular network	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
located_in ficolin-1-rich granule lumen	TAS Traceable Author Statement more info
located_in membrane	HDA more info	PubMed
located_in nuclear envelope	IDA Inferred from Direct Assay more info	PubMed
located_in nuclear membrane	IDA Inferred from Direct Assay more info
part_of nuclear pore	TAS Traceable Author Statement more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info	PubMed
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
located_in specific granule lumen	TAS Traceable Author Statement more info

General protein information

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Preferred Names: importin subunit beta-1

Names: PTAC97; importin 1; importin 90; importin beta-1 subunit; karyopherin (importin) beta 1; nuclear factor p97; pore targeting complex 97 kDa subunit

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_001276453.2 → NP_001263382.1 importin subunit beta-1 isoform 2

See identical proteins and their annotated locations for NP_001263382.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) has an alternate exon in place of the first two exons compared to variant 1, which causes translation to begin at a downstream AUG compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.

Source sequence(s)

AC015674, AC025682, KF570270

Consensus CDS

CCDS62228.1

UniProtKB/TrEMBL

B7Z752

Related

ENSP00000438964.1, ENST00000540627.5

Conserved Domains (2) summary

COG5215
Location:2 → 726

KAP95; Karyopherin (importin) beta [Intracellular trafficking and secretion]

sd00044
Location:178 → 209

HEAT; HEAT repeat [structural motif]
NM_002265.6 → NP_002256.2 importin subunit beta-1 isoform 1

See identical proteins and their annotated locations for NP_002256.2

Status: REVIEWED

Description

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

Source sequence(s)

AC015674, AC025682, KF570270

Consensus CDS

CCDS11513.1

UniProtKB/Swiss-Prot

B7ZAV6, D3DTT3, Q14637, Q14974, Q53XN2, Q96J27

UniProtKB/TrEMBL

B2RBR9

Related

ENSP00000290158.3, ENST00000290158.9

Conserved Domains (2) summary

COG5215
Location:2 → 871

KAP95; Karyopherin (importin) beta [Intracellular trafficking and secretion]

sd00044
Location:323 → 354

HEAT; HEAT repeat [structural motif]