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Protein

Transportin-3

Gene

TNPO3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Seems to function in nuclear protein import as nuclear transport receptor. In vitro, mediates the nuclear import of splicing factor SR proteins RBM4, SFRS1 and SFRS2, by recognizing phosphorylated RS domains.4 Publications

GO - Molecular functioni

  • identical protein binding Source: IntAct
  • nuclear localization sequence binding Source: GO_Central
  • protein transporter activity Source: GO_Central
  • signaling receptor activity Source: ProtInc

GO - Biological processi

  • protein import into nucleus Source: UniProtKB

Keywordsi

Biological processProtein transport, Transport

Names & Taxonomyi

Protein namesi
Recommended name:
Transportin-3
Alternative name(s):
Importin-12
Short name:
Imp12
Transportin-SR
Short name:
TRN-SR
Gene namesi
Name:TNPO3
Synonyms:IPO12
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

EuPathDBiHostDB:ENSG00000064419.13
HGNCiHGNC:17103 TNPO3
MIMi610032 gene
neXtProtiNX_Q9Y5L0

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Involvement in diseasei

Limb-girdle muscular dystrophy 1F (LGMD1F)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
See also OMIM:608423
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_071822818R → P in LGMD1F. 1 PublicationCorresponds to variant dbSNP:rs587777431EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Limb-girdle muscular dystrophy

Organism-specific databases

DisGeNETi23534
MalaCardsiTNPO3
MIMi608423 phenotype
OpenTargetsiENSG00000064419
Orphaneti55595 Autosomal dominant limb-girdle muscular dystrophy type 1F
186 Primary biliary cholangitis
PharmGKBiPA134888159

Polymorphism and mutation databases

BioMutaiTNPO3
DMDMi166215035

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001207811 – 923Transportin-3Add BLAST923

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1N-acetylmethionineCombined sources1
Modified residuei74PhosphoserineCombined sources1
Modified residuei896PhosphothreonineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiQ9Y5L0
MaxQBiQ9Y5L0
PaxDbiQ9Y5L0
PeptideAtlasiQ9Y5L0
PRIDEiQ9Y5L0
ProteomicsDBi86436
86437 [Q9Y5L0-1]
86438 [Q9Y5L0-3]

PTM databases

iPTMnetiQ9Y5L0
PhosphoSitePlusiQ9Y5L0
SwissPalmiQ9Y5L0

Expressioni

Tissue specificityi

Expressed in skeletal muscle.1 Publication

Gene expression databases

BgeeiENSG00000064419 Expressed in 248 organ(s), highest expression level in secondary oocyte
CleanExiHS_TNPO3
ExpressionAtlasiQ9Y5L0 baseline and differential
GenevisibleiQ9Y5L0 HS

Organism-specific databases

HPAiHPA039555
HPA041537

Interactioni

Subunit structurei

Interacts with phosphorylated SFRS1 and SFRS2. Interacts with NUP62 and RBM4.4 Publications

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi117080, 93 interactors
IntActiQ9Y5L0, 31 interactors
MINTiQ9Y5L0
STRINGi9606.ENSP00000265388

Structurei

Secondary structure

1923
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliQ9Y5L0
SMRiQ9Y5L0
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Phylogenomic databases

eggNOGiKOG2081 Eukaryota
ENOG410XRKT LUCA
GeneTreeiENSGT00530000063347
HOGENOMiHOG000273876
HOVERGENiHBG057505
InParanoidiQ9Y5L0
KOiK15436
PhylomeDBiQ9Y5L0
TreeFamiTF314539

Family and domain databases

Gene3Di1.25.10.10, 1 hit
InterProiView protein in InterPro
IPR011989 ARM-like
IPR016024 ARM-type_fold
IPR013598 Exportin-1/Importin-b-like
PfamiView protein in Pfam
PF08389 Xpo1, 1 hit
SUPFAMiSSF48371 SSF48371, 1 hit

Sequences (4+)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 4 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 2 (identifier: Q9Y5L0-2) [UniParc]FASTAAdd to basket
Also known as: TRN-SR2

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MEGAKPTLQL VYQAVQALYH DPDPSGKERA SFWLGELQRS VHAWEISDQL
60 70 80 90 100
LQIRQDVESC YFAAQTMKMK IQTSFYELPT DSHASLRDSL LTHIQNLKDL
110 120 130 140 150
SPVIVTQLAL AIADLALQMP SWKGCVQTLV EKYSNDVTSL PFLLEILTVL
160 170 180 190 200
PEEVHSRSLR IGANRRTEII EDLAFYSSTV VSLLMTCVEK AGTDEKMLMK
210 220 230 240 250
VFRCLGSWFN LGVLDSNFMA NNKLLALLFE VLQQDKTSSN LHEAASDCVC
260 270 280 290 300
SALYAIENVE TNLPLAMQLF QGVLTLETAY HMAVAREDLD KVLNYCRIFT
310 320 330 340 350
ELCETFLEKI VCTPGQGLGD LRTLELLLIC AGHPQYEVVE ISFNFWYRLG
360 370 380 390 400
EHLYKTNDEV IHGIFKAYIQ RLLHALARHC QLEPDHEGVP EETDDFGEFR
410 420 430 440 450
MRVSDLVKDL IFLIGSMECF AQLYSTLKEG NPPWEVTEAV LFIMAAIAKS
460 470 480 490 500
VDPENNPTLV EVLEGVVRLP ETVHTAVRYT SIELVGEMSE VVDRNPQFLD
510 520 530 540 550
PVLGYLMKGL CEKPLASAAA KAIHNICSVC RDHMAQHFNG LLEIARSLDS
560 570 580 590 600
FLLSPEAAVG LLKGTALVLA RLPLDKITEC LSELCSVQVM ALKKLLSQEP
610 620 630 640 650
SNGISSDPTV FLDRLAVIFR HTNPIVENGQ THPCQKVIQE IWPVLSETLN
660 670 680 690 700
KHRADNRIVE RCCRCLRFAV RCVGKGSAAL LQPLVTQMVN VYHVHQHSCF
710 720 730 740 750
LYLGSILVDE YGMEEGCRQG LLDMLQALCI PTFQLLEQQN GLQNHPDTVD
760 770 780 790 800
DLFRLATRFI QRSPVTLLRS QVVIPILQWA IASTTLDHRD ANCSVMRFLR
810 820 830 840 850
DLIHTGVAND HEEDFELRKE LIGQVMNQLG QQLVSQLLHT CCFCLPPYTL
860 870 880 890 900
PDVAEVLWEI MQVDRPTFCR WLENSLKGLP KETTVGAVTV THKQLTDFHK
910 920
QVTSAEECKQ VCWALRDFTR LFR
Length:923
Mass (Da):104,203
Last modified:January 15, 2008 - v3
Checksum:iCF7CDC14CDBA56AB
GO
Isoform 1 (identifier: Q9Y5L0-1) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     453-453: P → PKKPFSNAACHHSLLFGQNITSEISNCEYLPPVLR

Show »
Length:957
Mass (Da):108,001
Checksum:i6CDFAD0922CBA87F
GO
Isoform 3 (identifier: Q9Y5L0-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     904-923: SAEECKQVCWALRDFTRLFR → RNVFFN

Note: No experimental confirmation available.
Show »
Length:909
Mass (Da):102,541
Checksum:i03F2BCEFA4FAA203
GO
Isoform 4 (identifier: Q9Y5L0-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     500-563: Missing.

Note: No experimental confirmation available.
Show »
Length:859
Mass (Da):97,372
Checksum:i52D04D72633709DC
GO

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9PFH4E9PFH4_HUMAN
Transportin-3
TNPO3
857Annotation score:
C9J7E5C9J7E5_HUMAN
Transportin-3
TNPO3
957Annotation score:

Sequence cautioni

The sequence AAD38537 differs from that shown. Reason: Frameshift at position 920.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti87R → W in AAD38537 (PubMed:10366588).Curated1
Sequence conflicti265L → S in AK225999 (Ref. 3) Curated1
Sequence conflicti358D → G in AK225999 (Ref. 3) Curated1
Sequence conflicti480T → A in AK225999 (Ref. 3) Curated1
Sequence conflicti624P → L in AK225999 (Ref. 3) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_071822818R → P in LGMD1F. 1 PublicationCorresponds to variant dbSNP:rs587777431EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_030174453P → PKKPFSNAACHHSLLFGQNI TSEISNCEYLPPVLR in isoform 1. 1 Publication1
Alternative sequenceiVSP_045494500 – 563Missing in isoform 4. 1 PublicationAdd BLAST64
Alternative sequenceiVSP_011178904 – 923SAEEC…TRLFR → RNVFFN in isoform 3. 1 PublicationAdd BLAST20

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF145029 mRNA Translation: AAD38537.1 Frameshift.
AJ133769 mRNA Translation: CAB42643.1
AK225999 mRNA No translation available.
AC018639 Genomic DNA No translation available.
AC025594 Genomic DNA No translation available.
CH236950 Genomic DNA Translation: EAL24106.1
BC009221 mRNA Translation: AAH09221.2
CCDSiCCDS55162.1 [Q9Y5L0-5]
CCDS5809.1 [Q9Y5L0-2]
RefSeqiNP_001177957.2, NM_001191028.2 [Q9Y5L0-5]
NP_036602.1, NM_012470.3 [Q9Y5L0-2]
UniGeneiHs.193613

Genome annotation databases

EnsembliENST00000265388; ENSP00000265388; ENSG00000064419 [Q9Y5L0-2]
ENST00000471234; ENSP00000418646; ENSG00000064419 [Q9Y5L0-5]
GeneIDi23534
KEGGihsa:23534
UCSCiuc003vol.3 human [Q9Y5L0-2]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF145029 mRNA Translation: AAD38537.1 Frameshift.
AJ133769 mRNA Translation: CAB42643.1
AK225999 mRNA No translation available.
AC018639 Genomic DNA No translation available.
AC025594 Genomic DNA No translation available.
CH236950 Genomic DNA Translation: EAL24106.1
BC009221 mRNA Translation: AAH09221.2
CCDSiCCDS55162.1 [Q9Y5L0-5]
CCDS5809.1 [Q9Y5L0-2]
RefSeqiNP_001177957.2, NM_001191028.2 [Q9Y5L0-5]
NP_036602.1, NM_012470.3 [Q9Y5L0-2]
UniGeneiHs.193613

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4C0OX-ray2.56A/B1-923[»]
4C0PX-ray2.95A/B/C/D1-923[»]
4C0QX-ray3.42A/B1-923[»]
4OL0X-ray2.90B3-923[»]
ProteinModelPortaliQ9Y5L0
SMRiQ9Y5L0
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi117080, 93 interactors
IntActiQ9Y5L0, 31 interactors
MINTiQ9Y5L0
STRINGi9606.ENSP00000265388

PTM databases

iPTMnetiQ9Y5L0
PhosphoSitePlusiQ9Y5L0
SwissPalmiQ9Y5L0

Polymorphism and mutation databases

BioMutaiTNPO3
DMDMi166215035

Proteomic databases

EPDiQ9Y5L0
MaxQBiQ9Y5L0
PaxDbiQ9Y5L0
PeptideAtlasiQ9Y5L0
PRIDEiQ9Y5L0
ProteomicsDBi86436
86437 [Q9Y5L0-1]
86438 [Q9Y5L0-3]

Protocols and materials databases

DNASUi23534
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000265388; ENSP00000265388; ENSG00000064419 [Q9Y5L0-2]
ENST00000471234; ENSP00000418646; ENSG00000064419 [Q9Y5L0-5]
GeneIDi23534
KEGGihsa:23534
UCSCiuc003vol.3 human [Q9Y5L0-2]

Organism-specific databases

CTDi23534
DisGeNETi23534
EuPathDBiHostDB:ENSG00000064419.13
GeneCardsiTNPO3
HGNCiHGNC:17103 TNPO3
HPAiHPA039555
HPA041537
MalaCardsiTNPO3
MIMi608423 phenotype
610032 gene
neXtProtiNX_Q9Y5L0
OpenTargetsiENSG00000064419
Orphaneti55595 Autosomal dominant limb-girdle muscular dystrophy type 1F
186 Primary biliary cholangitis
PharmGKBiPA134888159
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2081 Eukaryota
ENOG410XRKT LUCA
GeneTreeiENSGT00530000063347
HOGENOMiHOG000273876
HOVERGENiHBG057505
InParanoidiQ9Y5L0
KOiK15436
PhylomeDBiQ9Y5L0
TreeFamiTF314539

Miscellaneous databases

ChiTaRSiTNPO3 human
GeneWikiiTransportin-3
GenomeRNAii23534
PROiPR:Q9Y5L0
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000064419 Expressed in 248 organ(s), highest expression level in secondary oocyte
CleanExiHS_TNPO3
ExpressionAtlasiQ9Y5L0 baseline and differential
GenevisibleiQ9Y5L0 HS

Family and domain databases

Gene3Di1.25.10.10, 1 hit
InterProiView protein in InterPro
IPR011989 ARM-like
IPR016024 ARM-type_fold
IPR013598 Exportin-1/Importin-b-like
PfamiView protein in Pfam
PF08389 Xpo1, 1 hit
SUPFAMiSSF48371 SSF48371, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiTNPO3_HUMAN
AccessioniPrimary (citable) accession number: Q9Y5L0
Secondary accession number(s): A4D1K9
, C9IZM0, Q6NUM1, Q96G71, Q96GU9, Q9Y3R2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 16, 2004
Last sequence update: January 15, 2008
Last modified: November 7, 2018
This is version 148 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  5. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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