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Protein

Transportin-3

Gene

TNPO3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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
  • receptor activity Source: ProtInc

GO - Biological processi

  • splicing factor protein import into nucleus Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

Protein transport, Transport

Enzyme and pathway databases

BioCyciZFISH:ENSG00000064419-MONOMER.

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

HGNCiHGNC:17103. TNPO3.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

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 rs587777431dbSNPEnsembl.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 cirrhosis.
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.

PTM databases

iPTMnetiQ9Y5L0.
PhosphoSitePlusiQ9Y5L0.
SwissPalmiQ9Y5L0.

Expressioni

Tissue specificityi

Expressed in skeletal muscle.1 Publication

Gene expression databases

BgeeiENSG00000064419.
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

WithEntry#Exp.IntActNotes
itself3EBI-1042571,EBI-1042571
gag-polP045856EBI-1042571,EBI-9872653From a different organism.

GO - Molecular functioni

  • identical protein binding Source: IntAct

Protein-protein interaction databases

BioGridi117080. 69 interactors.
IntActiQ9Y5L0. 29 interactors.
MINTiMINT-1194798.
STRINGi9606.ENSP00000265388.

Structurei

Secondary structure

1923
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi8 – 20Combined sources13
Helixi24 – 39Combined sources16
Beta strandi40 – 42Combined sources3
Helixi43 – 53Combined sources11
Helixi57 – 73Combined sources17
Helixi75 – 77Combined sources3
Helixi82 – 96Combined sources15
Turni97 – 100Combined sources4
Helixi102 – 117Combined sources16
Beta strandi121 – 123Combined sources3
Helixi125 – 133Combined sources9
Beta strandi134 – 136Combined sources3
Turni137 – 139Combined sources3
Helixi140 – 152Combined sources13
Helixi153 – 155Combined sources3
Turni157 – 159Combined sources3
Helixi163 – 188Combined sources26
Helixi195 – 211Combined sources17
Helixi216 – 220Combined sources5
Helixi223 – 233Combined sources11
Helixi239 – 254Combined sources16
Turni259 – 262Combined sources4
Helixi263 – 274Combined sources12
Helixi277 – 285Combined sources9
Helixi289 – 305Combined sources17
Helixi307 – 312Combined sources6
Helixi317 – 319Combined sources3
Helixi322 – 331Combined sources10
Helixi336 – 339Combined sources4
Helixi340 – 342Combined sources3
Helixi343 – 355Combined sources13
Helixi362 – 364Combined sources3
Helixi366 – 379Combined sources14
Beta strandi392 – 394Combined sources3
Helixi395 – 410Combined sources16
Helixi411 – 413Combined sources3
Helixi416 – 425Combined sources10
Turni426 – 430Combined sources5
Helixi434 – 447Combined sources14
Turni448 – 450Combined sources3
Helixi453 – 455Combined sources3
Helixi456 – 467Combined sources12
Helixi475 – 487Combined sources13
Helixi490 – 494Combined sources5
Helixi496 – 498Combined sources3
Helixi499 – 510Combined sources12
Helixi513 – 515Combined sources3
Helixi516 – 529Combined sources14
Turni535 – 537Combined sources3
Helixi538 – 546Combined sources9
Helixi547 – 550Combined sources4
Helixi555 – 569Combined sources15
Helixi574 – 595Combined sources22
Helixi609 – 621Combined sources13
Helixi635 – 651Combined sources17
Turni652 – 654Combined sources3
Helixi656 – 673Combined sources18
Turni675 – 680Combined sources6
Helixi681 – 694Combined sources14
Helixi698 – 711Combined sources14
Beta strandi712 – 714Combined sources3
Turni715 – 717Combined sources3
Helixi718 – 737Combined sources20
Helixi741 – 744Combined sources4
Helixi746 – 762Combined sources17
Helixi764 – 768Combined sources5
Beta strandi769 – 771Combined sources3
Helixi773 – 783Combined sources11
Helixi789 – 803Combined sources15
Helixi804 – 806Combined sources3
Helixi815 – 842Combined sources28
Helixi847 – 849Combined sources3
Helixi850 – 877Combined sources28
Helixi892 – 903Combined sources12
Helixi908 – 919Combined sources12

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...

Family & Domainsi

Phylogenomic databases

eggNOGiKOG2081. Eukaryota.
ENOG410XRKT. LUCA.
GeneTreeiENSGT00530000063347.
HOGENOMiHOG000273876.
HOVERGENiHBG057505.
InParanoidiQ9Y5L0.
KOiK15436.
PhylomeDBiQ9Y5L0.
TreeFamiTF314539.

Family and domain databases

Gene3Di1.25.10.10. 3 hits.
InterProiIPR011989. ARM-like.
IPR016024. ARM-type_fold.
IPR013598. Exportin-1/Importin-b-like.
[Graphical view]
PfamiPF08389. Xpo1. 1 hit.
[Graphical view]
SUPFAMiSSF48371. SSF48371. 3 hits.

Sequences (4)i

Sequence statusi: Complete.

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

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

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 rs587777431dbSNPEnsembl.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

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. 69 interactors.
IntActiQ9Y5L0. 29 interactors.
MINTiMINT-1194798.
STRINGi9606.ENSP00000265388.

PTM databases

iPTMnetiQ9Y5L0.
PhosphoSitePlusiQ9Y5L0.
SwissPalmiQ9Y5L0.

Polymorphism and mutation databases

BioMutaiTNPO3.
DMDMi166215035.

Proteomic databases

EPDiQ9Y5L0.
MaxQBiQ9Y5L0.
PaxDbiQ9Y5L0.
PeptideAtlasiQ9Y5L0.
PRIDEiQ9Y5L0.

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.
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 cirrhosis.
PharmGKBiPA134888159.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2081. Eukaryota.
ENOG410XRKT. LUCA.
GeneTreeiENSGT00530000063347.
HOGENOMiHOG000273876.
HOVERGENiHBG057505.
InParanoidiQ9Y5L0.
KOiK15436.
PhylomeDBiQ9Y5L0.
TreeFamiTF314539.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000064419-MONOMER.

Miscellaneous databases

ChiTaRSiTNPO3. human.
GeneWikiiTransportin-3.
GenomeRNAii23534.
PROiQ9Y5L0.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000064419.
CleanExiHS_TNPO3.
ExpressionAtlasiQ9Y5L0. baseline and differential.
GenevisibleiQ9Y5L0. HS.

Family and domain databases

Gene3Di1.25.10.10. 3 hits.
InterProiIPR011989. ARM-like.
IPR016024. ARM-type_fold.
IPR013598. Exportin-1/Importin-b-like.
[Graphical view]
PfamiPF08389. Xpo1. 1 hit.
[Graphical view]
SUPFAMiSSF48371. SSF48371. 3 hits.
ProtoNetiSearch...

Entry informationi

Entry nameiTNPO3_HUMAN
AccessioniPrimary (citable) accession number: Q9Y5L0
Secondary accession number(s): A4D1K9
, C9IZM0, Q6NUM1, Q96G71, Q96GU9, Q9Y3R2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: August 16, 2004
Last sequence update: January 15, 2008
Last modified: November 30, 2016
This is version 133 of the entry and version 3 of the sequence. [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 chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.