TNPO3
entrez
23534
canonical
uniprot
Q9Y5L0
canonical
ensembl
ENSG00000064419
resolver
ensp
ENSP00000265388
resolver
ensp
ENSP00000418267
resolver
ensp
ENSP00000418646
resolver
ensp
ENSP00000420089
resolver
ensp
ENSP00000487231
resolver
ensp
ENSP00000532706
resolver
ensp
ENSP00000532709
resolver
ensp
ENSP00000599067
resolver
ensp
ENSP00000599071
resolver
ensp
ENSP00000664241
resolver
enst
ENST00000471166
resolver
enst
ENST00000482320
resolver
enst
ENST00000627585
resolver
genesymbol
TNPO3
resolver
genesymbol_syn
IPO12
resolver
hgnc
HGNC:17103
resolver
uniprot
A4D1K9
resolver
uniprot
B3KMX1
resolver
uniprot
C9IZM0
resolver
uniprot
C9J7E5
resolver
uniprot
E9PFH4
resolver
uniprot
Q6NUM1
resolver
uniprot
Q96G71
resolver
uniprot
Q96GU9
resolver
uniprot
Q9Y3R2
resolver
uniprot_entry
B3KMX1_HUMAN
resolver
uniprot_entry
C9J7E5_HUMAN
resolver
uniprot_entry
E9PFH4_HUMAN
resolver
uniprot_entry
TNPO3_HUMAN
resolver
uniprot_sec
A4D1K9
resolver
uniprot_sec
C9IZM0
resolver
uniprot_sec
Q6NUM1
resolver
uniprot_sec
Q96G71
resolver
uniprot_sec
Q96GU9
resolver
uniprot_sec
Q9Y3R2
resolver
amino_acid_sequence
MEGAKPTLQLVYQAVQALYHDPDPSGKERASFWLGELQRSVHAWEISDQLLQIRQDVESCYFAAQTMKMKIQTSFYELPTDSHASLRDSLLTHIQNLKDLSPVIVTQLALAIADLALQMPSWKGCVQTLVEKYSNDVTSLPFLLEILTVLPEEVHSRSLRIGANRRTEIIEDLAFYSSTVVSLLMTCVEKAGTDEKMLMKVFRCLGSWFNLGVLDSNFMANNKLLALLFEVLQQDKTSSNLHEAASDCVCSALYAIENVETNLPLAMQLFQGVLTLETAYHMAVAREDLDKVLNYCRIFTELCETFLEKIVCTPGQGLGDLRTLELLLICAGHPQYEVVEISFNFWYRLGEHLYKTNDEVIHGIFKAYIQRLLHALARHCQLEPDHEGVPEETDDFGEFRMRVSDLVKDLIFLIGSMECFAQLYSTLKEGNPPWEVTEAVLFIMAAIAKSVDPENNPTLVEVLEGVVRLPETVHTAVRYTSIELVGEMSEVVDRNPQFLDPVLGYLMKGLCEKPLASAAAKAIHNICSVCRDHMAQHFNGLLEIARSLDSFLLSPEAAVGLLKGTALVLARLPLDKITECLSELCSVQVMALKKLLSQEPSNGISSDPTVFLDRLAVIFRHTNPIVENGQTHPCQKVIQEIWPVLSETLNKHRADNRIVERCCRCLRFAVRCVGKGSAALLQPLVTQMVNVYHVHQHSCFLYLGSILVDEYGMEEGCRQGLLDMLQALCIPTFQLLEQQNGLQNHPDTVDDLFRLATRFIQRSPVTLLRSQVVIPILQWAIASTTLDHRDANCSVMRFLRDLIHTGVANDHEEDFELRKELIGQVMNQLGQQLVSQLLHTCCFCLPPYTLPDVAEVLWEIMQVDRPTFCRWLENSLKGLPKETTVGAVTVTHKQLTDFHKQVTSAEECKQVCWALRDFTRLFR
uniprot
proteins
disease_involvement
DISEASE: Muscular dystrophy, limb-girdle, autosomal dominant 2 (LGMDD2) [MIM:608423]: An autosomal dominant myopathy characterized by proximal muscle weakness primarily affecting the lower limbs, but also affecting the upper limbs in most patients. Affected individuals also have distal muscle weakness of the hands and lower leg muscles. The disease has generally a benign clinical course but some individuals with childhood or juvenile onset manifest severe widespread myopathy, leading to wheelchair dependency and respiratory insufficiency. Muscle biopsy shows dystrophic changes with abnormal nuclei, rimmed vacuoles, and filamentous inclusions. {ECO:0000269|PubMed:23543484, ECO:0000269|PubMed:23667635, ECO:0000269|PubMed:31071488, ECO:0000269|PubMed:31192305, ECO:0000269|PubMed:31465518}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Importin, which transports target proteins into the nucleus (PubMed:10366588, PubMed:10713112, PubMed:11517331, PubMed:12628928, PubMed:24449914). Specifically mediates the nuclear import of splicing factor serine/arginine (SR) proteins, such as RBM4, SFRS1 and SFRS2, by recognizing phosphorylated SR domains (PubMed:10366588, PubMed:10713112, PubMed:11517331, PubMed:12628928, PubMed:24449914). Also mediates the nuclear import of serine/arginine (SR) protein CPSF6, independently of CPSF6 phosphorylation (PubMed:30916345, PubMed:31465518). The nuclear import process is regulated by the small GTPase Ran that partitions between cytoplasm and nucleus in the predominantly GDP- and GTP-bound form, respectively (PubMed:23878195, PubMed:24449914). Importin associates with target cargo proteins in the cytoplasm, and the competitive binding of GTP-bound Ran induces the release of cargos in the nucleus (PubMed:23878195, PubMed:24449914). {ECO:0000269|PubMed:10366588, ECO:0000269|PubMed:10713112, ECO:0000269|PubMed:11517331, ECO:0000269|PubMed:12628928, ECO:0000269|PubMed:23878195, ECO:0000269|PubMed:24449914, ECO:0000269|PubMed:30916345, ECO:0000269|PubMed:31465518}.; FUNCTION: (Microbial infection) Involved in immunodeficiency virus (HIV-1) infection by importing the pre-integration complex (PIC) into the nucleus (PubMed:18722123, PubMed:21901095, PubMed:22398280, PubMed:29329553). Required for a nuclear maturation step of HIV-1 prior to integration (PubMed:21901095, PubMed:22398280). {ECO:0000269|PubMed:18722123, ECO:0000269|PubMed:21901095, ECO:0000269|PubMed:22398280, ECO:0000269|PubMed:29329553}.
uniprot
proteins
mass_dalton
104203
uniprot
proteins
mutagenesis
MUTAGEN 145..153; /note="EILTVLPEE->QILTALPQQ: Decreased interaction with GTP-bound Ran."; /evidence="ECO:0000269|PubMed:23878195"; MUTAGEN 620; /note="R->A: In 9Ala; abolished interaction with SRSF1 and CPSF6 without affecting interaction with GTP-bound Ran; when associated with A-660, A-664, A-667, A-671, A-702, A-750, A-751 and A-758."; /evidence="ECO:0000269|PubMed:24449914"; MUTAGEN 660; /note="E->A: In 9Ala; abolished interaction with SRSF1 and CPSF6 without affecting interaction with GTP-bound Ran; when associated with A-620, A-664, A-667, A-671, A-702, A-750, A-751 and A-758."; /evidence="ECO:0000269|PubMed:24449914"; MUTAGEN 664; /note="R->A: Abolished interaction with SRSF1. In 9Ala; abolished interaction with SRSF1 and CPSF6 without affecting interaction with GTP-bound Ran; when associated with A-620, A-660, A-667, A-671, A-702, A-750, A-751 and A-758."; /evidence="ECO:0000269|PubMed:24449914"; MUTAGEN 667; /note="R->A: In 9Ala; abolished interaction with SRSF1 and CPSF6 without affecting interaction with GTP-bound Ran; when associated with A-620, A-660, A-664, A-671, A-702, A-750, A-751 and A-758."; /evidence="ECO:0000269|PubMed:24449914"; MUTAGEN 671; /note="R->A: Abolished interaction with SRSF1. In 9Ala; abolished interaction with SRSF1 and CPSF6 without affecting interaction with GTP-bound Ran; when associated with A-620, A-660, A-664, A-667, A-702, A-750, A-751 and A-758."; /evidence="ECO:0000269|PubMed:24449914"; MUTAGEN 702; /note="Y->A: Abolished interaction with SRSF1. In 9Ala; abolished interaction with SRSF1 and CPSF6 without affecting interaction with GTP-bound Ran; when associated with A-620, A-660, A-664, A-667, A-671, A-750, A-751 and A-758."; /evidence="ECO:0000269|PubMed:24449914"; MUTAGEN 750; /note="D->A: Abolished interaction with SRSF1. In 9Ala; abolished interaction with SRSF1 and CPSF6 without affecting interaction with GTP-bound Ran; when associated with A-620, A-660, A-664, A-667, A-671, A-702, A-751 and A-758."; /evidence="ECO:0000269|PubMed:24449914"; MUTAGEN 751; /note="D->A: In 9Ala; abolished interaction with SRSF1 and CPSF6 without affecting interaction with GTP-bound Ran; when associated with A-620, A-660, A-664, A-667, A-671, A-702, A-750 and A-758."; /evidence="ECO:0000269|PubMed:24449914"; MUTAGEN 754; /note="R->A: Abolished interaction with SRSF1."; /evidence="ECO:0000269|PubMed:24449914"; MUTAGEN 758; /note="R->A: Abolished interaction with SRSF1. In 9Ala; abolished interaction with SRSF1 and CPSF6 without affecting interaction with GTP-bound Ran; when associated with A-620, A-660, A-664, A-667, A-671, A-702, A-750 and A-751."; /evidence="ECO:0000269|PubMed:24449914
uniprot
proteins
pubmed
10366588
uniprot
proteins
pubmed
10713112
uniprot
proteins
pubmed
11517331
uniprot
proteins
pubmed
12628928
uniprot
proteins
pubmed
12690205
uniprot
proteins
pubmed
12853948
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
18722123
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21901095
uniprot
proteins
pubmed
22398280
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23543484
uniprot
proteins
pubmed
23667635
uniprot
proteins
pubmed
23878195
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
24449914
uniprot
proteins
pubmed
24915079
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
28356354
uniprot
proteins
pubmed
29329553
uniprot
proteins
pubmed
30916345
uniprot
proteins
pubmed
31071488
uniprot
proteins
pubmed
31192305
uniprot
proteins
pubmed
31465518
uniprot
proteins
sequence_length
923
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus envelope {ECO:0000269|PubMed:31192305, ECO:0000305|PubMed:10713112, ECO:0000305|PubMed:23543484}. Cytoplasm {ECO:0000269|PubMed:10713112}. Note=Localizes to the nuclear envelope and annulate lamellae, which consists in stacks of endoplasmic reticulum membranes containing a high density of nuclear pores. {ECO:0000269|PubMed:31192305}.
uniprot
proteins