KPNA3
entrez
3839
canonical
uniprot
O00505
canonical
ensembl
ENSG00000102753
resolver
ensp
ENSP00000261667
resolver
ensp
ENSP00000582550
resolver
ensp
ENSP00000620829
resolver
enst
ENST00000261667
resolver
enst
ENST00000912491
resolver
enst
ENST00000950770
resolver
genesymbol
KPNA3
resolver
genesymbol_syn
QIP2
resolver
hgnc
HGNC:6396
resolver
uniprot
O00191
resolver
uniprot
O43195
resolver
uniprot
Q5JVM9
resolver
uniprot
Q8IYQ9
resolver
uniprot
Q96AA7
resolver
uniprot_entry
IMA4_HUMAN
resolver
uniprot_sec
O00191
resolver
uniprot_sec
O43195
resolver
uniprot_sec
Q5JVM9
resolver
uniprot_sec
Q8IYQ9
resolver
uniprot_sec
Q96AA7
resolver
amino_acid_sequence
MAENPSLENHRIKSFKNKGRDVETMRRHRNEVTVELRKNKRDEHLLKKRNVPQEESLEDSDVDADFKAQNVTLEAILQNATSDNPVVQLSAVQAARKLLSSDRNPPIDDLIKSGILPILVKCLERDDNPSLQFEAAWALTNIASGTSAQTQAVVQSNAVPLFLRLLRSPHQNVCEQAVWALGNIIGDGPQCRDYVISLGVVKPLLSFISPSIPITFLRNVTWVIVNLCRNKDPPPPMETVQEILPALCVLIYHTDINILVDTVWALSYLTDGGNEQIQMVIDSGVVPFLVPLLSHQEVKVQTAALRAVGNIVTGTDEQTQVVLNCDVLSHFPNLLSHPKEKINKEAVWFLSNITAGNQQQVQAVIDAGLIPMIIHQLAKGDFGTQKEAAWAISNLTISGRKDQVEYLVQQNVIPPFCNLLSVKDSQVVQVVLDGLKNILIMAGDEASTIAEIIEECGGLEKIEVLQQHENEDIYKLAFEIIDQYFSGDDIDEDPCLIPEATQGGTYNFDPTANLQTKEFNF
uniprot
proteins
disease_involvement
DISEASE: Spastic paraplegia 88, autosomal dominant (SPG88) [MIM:620106]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG88 is characterized by onset of symptoms in the first year of life. Most SPG88 patients have a pure form of the disorder, although rarely patients may manifest additional features, including peripheral neuropathy, speech delay, attention deficit-hyperactivity disorder, and non-specific brain imaging abnormalities. {ECO:0000269|PubMed:34564892, ECO:0000269|PubMed:34825409, ECO:0000269|PubMed:34981581}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Functions in nuclear protein import as an adapter protein for nuclear receptor KPNB1. Binds specifically and directly to substrates containing either a simple or bipartite NLS motif. Docking of the importin/substrate complex to the nuclear pore complex (NPC) is mediated by KPNB1 through binding to nucleoporin FxFG repeats and the complex is subsequently translocated through the pore by an energy requiring, Ran-dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to importin-beta and the three components separate and importin-alpha and -beta are re-exported from the nucleus to the cytoplasm where GTP hydrolysis releases Ran from importin. The directionality of nuclear import is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus. In vitro, mediates the nuclear import of human cytomegalovirus UL84 by recognizing a non-classical NLS. Recognizes NLSs of influenza A virus nucleoprotein probably through ARM repeats 7-9.
uniprot
proteins
mass_dalton
57811
uniprot
proteins
protein_family
Importin alpha family
uniprot
proteins
pubmed
12740372
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15057823
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
18318008
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
20554775
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
26382858
uniprot
proteins
pubmed
34564892
uniprot
proteins
pubmed
34825409
uniprot
proteins
pubmed
34981581
uniprot
proteins
pubmed
37356722
uniprot
proteins
pubmed
9154134
uniprot
proteins
pubmed
9395085
uniprot
proteins
pubmed
9435235
uniprot
proteins
sequence_length
521
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305|PubMed:34564892}. Nucleus {ECO:0000269|PubMed:34564892}.
uniprot
proteins