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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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KPNA7
karyopherin subunit alpha 7
Chromosome 7 · 7q22.1
NCBI Gene: 402569Ensembl: ENSG00000185467.9HGNC: HGNC:21839UniProt: A9QM74
20PubMed Papers
1Diseases
0Drugs
2Pathogenic Variants
FUNCTIONAL ROLE
Transporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingnucleusnuclear localization sequence bindingnuclear import signal receptor activityOocyte/zygote/embryo maturation arrest 17
✦AI Summary

KPNA7 (karyopherin subunit alpha 7) is a nuclear import receptor that recognizes and binds nuclear localization signals (NLSs) in cargo proteins to facilitate their transport from the cytoplasm to the nucleus 1. As a member of the importin-α family, KPNA7 forms complexes with importin-β to mediate protein translocation 2. The protein functions as an oocyte-specific maternal factor with epigenetic regulation via DNA methylation at the promoter and miRNA-1296-mediated degradation during embryonic development 3. Clinically, KPNA7 mutations contribute to preimplantation embryo arrest (PREMBA), a major cause of female infertility. Loss-of-function variants reduce KPNA7 protein levels and impair nuclear transport capacity, particularly affecting transport of substrate proteins like RSL1D1 4. The E344Q mutation associated with pediatric epilepsy reduces NLS binding affinity and nuclear import of neuronal cargo proteins including hnRNP R and hnRNP U 2. Additionally, KPNA7 is overexpressed in pancreatic cancer cell lines, where it promotes malignant properties through p21-mediated cell cycle regulation 5. Identified cargo proteins MVP and ZNF414 mediate KPNA7's role in pancreatic cancer cell growth 1. KPNA7 also shows potential involvement in inflammatory bowel disease through IL27 gene-gene interactions affecting NF-κB signaling 6.

Sources cited
1
KPNA7 recognizes NLS-bearing proteins; MVP and ZNF414 are novel KPNA7 cargo proteins regulating pancreatic cancer growth
PMID: 27664836
2
KPNA7 mutations cause preimplantation embryo arrest through reduced nuclear transport capacity; RSL1D1 is a key substrate
PMID: 36647821
3
KPNA7 expression is regulated by DNA methylation and miRNA-1296-mediated degradation during oocyte and embryonic development
PMID: 31787077
4
E344Q mutation reduces KPNA7 NLS binding and nuclear import; hnRNP R and hnRNP U are neuronal cargo proteins
PMID: 32179771
5
KPNA7 is overexpressed in pancreatic cancer; KPNA7 silencing reduces cell growth and induces p21-mediated G1 arrest
PMID: 24275456
6
KPNA7 shows gene-gene interaction with IL27 in inflammatory bowel disease through NF-κB signaling
PMID: 32649238
Disease Associationsⓘ1
Oocyte/zygote/embryo maturation arrest 17UniProt
Pathogenic Variants2
NM_001145715.3(KPNA7):c.523C>A (p.Gln175Lys)Pathogenic
Oocyte/zygote/embryo maturation arrest 17
☆☆☆☆2023→ Residue 175
NM_001145715.3(KPNA7):c.1350_1356del (p.Leu450_Cys451insTer)Pathogenic
Oocyte/zygote/embryo maturation arrest 17
☆☆☆☆2023→ Residue 450
View on ClinVar ↗
Related Genes
KPNA4Shared pathway100%KPNA5Shared pathway100%RANProtein interaction96%BTN3A1Protein interaction78%IL1F10Protein interaction78%MUC3AProtein interaction74%
Tissue Expression

No tissue expression data available for this gene.

Gene Interaction Network
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KPNA7KPNA4KPNA5RANBTN3A1IL1F10MUC3A
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt A9QM74
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.25LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.98 [0.78–1.25]
RankingsWhere KPNA7 stands among ~20K protein-coding genes
  • #14,183of 20,598
    Most Researched20
  • #4,556of 5,498
    Most Pathogenic Variants2
  • #13,138of 17,882
    Most Constrained (LOEUF)1.25
Genes detectedKPNA7
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Search for KPNA7 cargo proteins in human cells reveals MVP and ZNF414 as novel regulators of cancer cell growth.
PMID: 27664836
Biochim Biophys Acta Mol Basis Dis · 2017
1.00
2
Karyopherin α deficiency contributes to human preimplantation embryo arrest.
PMID: 36647821
J Clin Invest · 2023
0.90
3
DNA methylation and miRNA-1296 act in concert to mediate spatiotemporal expression of KPNA7 during bovine oocyte and early embryonic development.
PMID: 31787077
BMC Dev Biol · 2019
0.80
4
Unraveling the mysteries of early embryonic arrest: genetic factors and molecular mechanisms.
PMID: 39325344
J Assist Reprod Genet · 2024
0.70
5
An epilepsy-associated mutation in the nuclear import receptor KPNA7 reduces nuclear localization signal binding.
PMID: 32179771
Sci Rep · 2020
0.60