KPNA4: Karyopherin Subunit Alpha 4

Nuclear import receptor involved in nucleocytoplasmic transport and cellular signaling

Gene Information Card

Symbol KPNA4
Full Name Karyopherin Subunit Alpha 4
Gene Type Protein coding
Chromosomal Location 3q25.33
NCBI Gene ID 3840 ncbi.nlm.nih.gov/gene/3840
Ensembl ID ENSG00000114771
UniProt ID O00629
OMIM ID 602652
HGNC ID 6398
Aliases IPOA4, QIP1, SRP3, hSRP1gamma, RCH2

Description

KPNA4 encodes karyopherin subunit alpha 4, a member of the importin alpha family that mediates nuclear import of proteins containing a classical nuclear localization signal (NLS). The protein functions as an adapter between cargo proteins and the importin beta subunit, facilitating translocation through the nuclear pore complex. KPNA4 is involved in diverse cellular processes including cell cycle regulation, signal transduction, and viral infection.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Cancer (various types) Altered KPNA4 expression may affect nuclear transport of tumor suppressors and oncogenes COSMIC, literature
Viral infections (e.g., HIV, influenza) KPNA4 mediates nuclear import of viral proteins UniProt, literature
Primary biliary cholangitis Potential role in immune dysregulation via nuclear transport of transcription factors OMIM, literature

Expression Profile

Tissue Expression
Tissue nTPM level
Testis 18.5 High
Lymph node 14.2 High
Spleen 13.8 High
Bone marrow 12.1 High
Lung 9.5 Medium
Brain 6.3 Medium
Liver 4.1 Low
Cell Line Expression
Cell Line nTPM Notes
HEK 293 15.2 Embryonic kidney, high expression
HeLa 12.8 Cervical carcinoma, high expression
K562 11.5 Leukemia, high expression
A549 9.7 Lung carcinoma, medium expression
HepG2 6.3 Hepatocellular carcinoma, medium expression
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.1012C>T (p.Arg338Trp) Missense <0.01% Unknown; rare variant in population databases
c.1456G>A (p.Glu486Lys) Missense <0.01% Unknown; rare variant in population databases
c.1687C>T (p.Arg563Cys) Missense <0.01% Unknown; rare variant in population databases
Mutation functional classification

Loss of Function (LOF)

No confirmed loss-of-function mutations reported in ClinVar or COSMIC.

Gain of Function (GOF)

No confirmed gain-of-function mutations reported.

Dominant Negative (DN)

No confirmed dominant-negative mutations reported.

Gene Ontology (GO)

• protein import into nucleus (GO:0006606) • nuclear localization sequence binding (GO:0008139)
• protein transporter activity (GO:0008565) • viral process (GO:0016032)
• regulation of protein export from nucleus (GO:0046822) • mRNA transport (GO:0051028)

Pathways

• REACT:168256 - Immune System
• REACT:170834 - Transport of Mature mRNA derived from an Intron-Containing Transcript
• REACT:212300 - HIV Life Cycle
• REACT:213045 - Nuclear import of viral proteins

Protein Summary

KPNA4 (importin alpha 4) is a 58 kDa protein that belongs to the importin alpha family. It contains an N-terminal importin beta binding domain (IBB) and 10 armadillo (ARM) repeats that form a groove for NLS recognition. KPNA4 shuttles between nucleus and cytoplasm, binding cargo proteins in the cytoplasm and releasing them in the nucleus after interaction with RanGTP. It is ubiquitously expressed with highest levels in testis and lymphoid tissues. KPNA4 has been implicated in cancer progression and viral pathogenesis.

Related Products

Product name Cat.No. Species Gene ID
KPNA4 Knockout HEK293 Cell Line EDJ-KQ5081 Human 3840 Details Get a Quote
KPNA4 Knockout A-549 Cell Line EDJ-KQ28011 Human 3840 Details Get a Quote
KPNA4 Knockout HCT 116 Cell Line EDJ-KQ28012 Human 3840 Details Get a Quote
KPNA4 Knockout HeLa Cell Line EDJ-KQ28013 Human 3840 Details Get a Quote
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