Gene Gene information from NCBI Gene database.
Entrez ID 3840
Gene name Karyopherin subunit alpha 4
Gene symbol KPNA4
Synonyms (NCBI Gene)
IPOA3QIP1SRP3
Chromosome 3
Chromosome location 3q25.33
Summary The nuclear import of karyophilic proteins is directed by short amino acid sequences termed nuclear localization signals (NLSs). Karyopherins, or importins, are cytoplasmic proteins that recognize NLSs and dock NLS-containing proteins to the nuclear pore
miRNA miRNA information provided by mirtarbase database.
1492
miRTarBase ID miRNA Experiments Reference
MIRT019944 hsa-miR-375 Microarray 20215506
MIRT028598 hsa-miR-30a-5p Proteomics 18668040
MIRT522804 hsa-miR-148a-3p HITS-CLIP 21572407
MIRT522803 hsa-miR-148b-3p HITS-CLIP 21572407
MIRT522802 hsa-miR-152-3p HITS-CLIP 21572407
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
34
GO ID Ontology Definition Evidence Reference
GO:0001673 Component Male germ cell nucleus IEA
GO:0005515 Function Protein binding IPI 9168958, 10523667, 17314511, 20554775, 20701745, 20818336, 25416956, 25599645, 26382858, 26496610, 26571498, 29370303, 32296183, 32911434, 32960270, 33060197, 33961781, 35044719, 35271311, 37219487, 39009827, 39251607
GO:0005634 Component Nucleus IBA
GO:0005634 Component Nucleus IEA
GO:0005643 Component Nuclear pore IDA 10100610
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602970 6397 ENSG00000186432
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O00629
Protein name Importin subunit alpha-3 (Importin alpha Q1) (Qip1) (Karyopherin subunit alpha-4)
Protein function Functions in nuclear protein import as an adapter protein for nuclear receptor KPNB1 (PubMed:10567565, PubMed:20818336, PubMed:28760339, PubMed:29042532, PubMed:38512451). Binds specifically and directly to substrates containing either a simple
PDB 4UAE , 5TBK , 5XZX , 6BVV , 6BVZ , 6BW9 , 6BWA , 6BWB , 6WX8 , 7JJL , 7LF4 , 7LFC , 7RFY , 7RG5 , 8FUB , 8FZM , 8HKW
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01749 IBB 11 93 Importin beta binding domain Family
PF00514 Arm 103 144 Armadillo/beta-catenin-like repeat Repeat
PF00514 Arm 146 186 Armadillo/beta-catenin-like repeat Repeat
PF00514 Arm 188 229 Armadillo/beta-catenin-like repeat Repeat
PF00514 Arm 232 271 Armadillo/beta-catenin-like repeat Repeat
PF00514 Arm 273 313 Armadillo/beta-catenin-like repeat Repeat
PF00514 Arm 315 355 Armadillo/beta-catenin-like repeat Repeat
PF00514 Arm 357 397 Armadillo/beta-catenin-like repeat Repeat
PF00514 Arm 400 440 Armadillo/beta-catenin-like repeat Repeat
PF16186 Arm_3 447 499 Atypical Arm repeat Family
Tissue specificity TISSUE SPECIFICITY: Highly expressed in testis, ovary, small intestine, heart, skeletal muscle, lung and pancreas, but barely detectable in kidney, thymus, colon and peripheral blood leukocytes. {ECO:0000269|PubMed:9395085}.
Sequence
Sequence length 521
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Nucleocytoplasmic transport
Salmonella infection
Chemical carcinogenesis - receptor activation
  ISG15 antiviral mechanism
NS1 Mediated Effects on Host Pathways
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
12
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Arteriosclerosis Arteriosclerosis BEFREE 29250154
★☆☆☆☆
Found in Text Mining only
Ataxia Telangiectasia Ataxia Telangiectasia BEFREE 10951528
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 29250154
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 24866763 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 33535183 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 31693222
★☆☆☆☆
Found in Text Mining only
Cardiovascular Diseases Cardiovascular Diseases GWASCAT_DG 30595370
★☆☆☆☆
Found in Text Mining only
Dental Caries Dental caries Pubtator 24556642 Associate
★☆☆☆☆
Found in Text Mining only
Dental caries pit and fissure Dental caries GWASCAT_DG 24556642
★☆☆☆☆
Found in Text Mining only
Ellis-Van Creveld Syndrome Ellis-Van Creveld Syndrome BEFREE 10951528
★☆☆☆☆
Found in Text Mining only