This gene encodes the beta subunit of the karyopherin receptor complex which interacts with nuclear localization signals to target nuclear proteins to the nucleus. The karyopherin receptor complex is a heterodimer of an alpha subunit which recognizes the nuclear localization signal and a beta subunit which docks the complex at nucleoporins. Alternate splicing of this gene resul... See more...

Aliases for TNPO1 Gene

Aliases for TNPO1 Gene

  • Transportin 1 2 3 5
  • MIP1 2 3 4
  • MIP 2 3 4
  • TRN 2 3 4
  • Karyopherin (Importin) Beta 2 2 3
  • M9 Region Interaction Protein 3 4
  • Karyopherin Beta-2 3 4
  • Transportin-1 3 4
  • Importin 2 2 3
  • KPNB2 3 4
  • IPO2 2 3
  • Importin Beta 2 3
  • Importin Beta-2 4
  • TNPO1 5

External Ids for TNPO1 Gene

Previous HGNC Symbols for TNPO1 Gene

  • KPNB2

Previous GeneCards Identifiers for TNPO1 Gene

  • GC05P072196
  • GC05P072148
  • GC05P067317

Summaries for TNPO1 Gene

Entrez Gene Summary for TNPO1 Gene

  • This gene encodes the beta subunit of the karyopherin receptor complex which interacts with nuclear localization signals to target nuclear proteins to the nucleus. The karyopherin receptor complex is a heterodimer of an alpha subunit which recognizes the nuclear localization signal and a beta subunit which docks the complex at nucleoporins. Alternate splicing of this gene results in several transcript variants encoding different proteins. [provided by RefSeq, Jun 2018]

GeneCards Summary for TNPO1 Gene

TNPO1 (Transportin 1) is a Protein Coding gene. Diseases associated with TNPO1 include Retinitis Pigmentosa 2 and Amyotrophic Lateral Sclerosis 20. Among its related pathways are Cell cycle_Spindle assembly and chromosome separation and Organelle biogenesis and maintenance. Gene Ontology (GO) annotations related to this gene include Ran GTPase binding. An important paralog of this gene is TNPO2.

UniProtKB/Swiss-Prot Summary for TNPO1 Gene

  • Functions in nuclear protein import as nuclear transport receptor. Serves as receptor for nuclear localization signals (NLS) in cargo substrates (PubMed:24753571). Is thought to mediate docking of the importin/substrate complex to the nuclear pore complex (NPC) through binding to nucleoporin 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 the importin, the importin/substrate complex dissociates and importin is re-exported from the nucleus to the cytoplasm where GTP hydrolysis releases Ran. 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 (By similarity). Involved in nuclear import of M9-containing proteins. In vitro, binds directly to the M9 region of the heterogeneous nuclear ribonucleoproteins (hnRNP), A1 and A2 and mediates their nuclear import. Appears also to be involved in hnRNP A1/A2 nuclear export. Mediates the nuclear import of ribosomal proteins RPL23A, RPS7 and RPL5. Binds to a beta-like import receptor binding (BIB) domain of RPL23A. In vitro, mediates nuclear import of H2A, H2B, H3 and H4 histones, and SRP19 (By similarity). Mediates nuclear import of ADAR/ADAR1 isoform 1 and isoform 5 in a RanGTP-dependent manner (PubMed:19124606, PubMed:24753571).
  • (Microbial infection) In case of HIV-1 infection, binds and mediates the nuclear import of HIV-1 Rev.

Gene Wiki entry for TNPO1 Gene

Additional gene information for TNPO1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TNPO1 Gene

Genomics for TNPO1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TNPO1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TNPO1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TNPO1

Top Transcription factor binding sites by QIAGEN in the TNPO1 gene promoter:
  • AP-4
  • FOXD3
  • GR
  • GR-alpha
  • GR-beta
  • Sox5
  • SREBP-1a
  • SREBP-1b
  • SREBP-1c
  • YY1

Genomic Locations for TNPO1 Gene

Genomic Locations for TNPO1 Gene
chr5:72,816,312-72,916,741
(GRCh38/hg38)
Size:
100,430 bases
Orientation:
Plus strand
chr5:72,112,139-72,212,560
(GRCh37/hg19)
Size:
100,422 bases
Orientation:
Plus strand

Genomic View for TNPO1 Gene

Genes around TNPO1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TNPO1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TNPO1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TNPO1 Gene

Proteins for TNPO1 Gene

  • Protein details for TNPO1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q92973-TNPO1_HUMAN
    Recommended name:
    Transportin-1
    Protein Accession:
    Q92973
    Secondary Accessions:
    • B4DVC6
    • Q92957
    • Q92975

    Protein attributes for TNPO1 Gene

    Size:
    898 amino acids
    Molecular mass:
    102355 Da
    Quaternary structure:
    • Identified in a complex that contains TNPO1, RAN and RANBP1 (PubMed:9428644). Binds HNRPA1, HNRPA2, HNRNPDL, RPL23A, RPS7, RPL5, RAN and SRP19. Interacts with H2A, H2B, H3 and H4 histones (By similarity). Interacts with isoform 1 and isoform 5 of ADAR/ADAR1 (via DRBM 3 domain) (PubMed:19124606, PubMed:24753571). Interacts with SNAI1 (via zinc fingers); the interaction mediates SNAI1 nuclear import (PubMed:19386897). Interacts with SNAI2 (via zinc fingers) (PubMed:19386897).
    • (Microbial infection) Binds to HIV-1 Rev.
    SequenceCaution:
    • Sequence=AAC50723.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAH40340.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for TNPO1 Gene

    Alternative splice isoforms for TNPO1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TNPO1 Gene

Post-translational modifications for TNPO1 Gene

  • Ubiquitination at Lys85, Lys192, and Lys863
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for TNPO1 Gene

Domains & Families for TNPO1 Gene

Gene Families for TNPO1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins
  • Transporters

Protein Domains for TNPO1 Gene

InterPro:
Blocks:
  • Importin-beta, N-terminal
  • HEAT repeat
  • Armadillo repeat
ProtoNet:

Suggested Antigen Peptide Sequences for TNPO1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ57425, highly similar to Transportin-1 (B4DSC0_HUMAN)
  • M9 region interaction protein (TNPO1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q92973

UniProtKB/Swiss-Prot:

TNPO1_HUMAN :
  • Belongs to the importin beta family. Importin beta-2 subfamily.
Family:
  • Belongs to the importin beta family. Importin beta-2 subfamily.
genes like me logo Genes that share domains with TNPO1: view

Function for TNPO1 Gene

Molecular function for TNPO1 Gene

UniProtKB/Swiss-Prot Function:
Functions in nuclear protein import as nuclear transport receptor. Serves as receptor for nuclear localization signals (NLS) in cargo substrates (PubMed:24753571). Is thought to mediate docking of the importin/substrate complex to the nuclear pore complex (NPC) through binding to nucleoporin 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 the importin, the importin/substrate complex dissociates and importin is re-exported from the nucleus to the cytoplasm where GTP hydrolysis releases Ran. 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 (By similarity). Involved in nuclear import of M9-containing proteins. In vitro, binds directly to the M9 region of the heterogeneous nuclear ribonucleoproteins (hnRNP), A1 and A2 and mediates their nuclear import. Appears also to be involved in hnRNP A1/A2 nuclear export. Mediates the nuclear import of ribosomal proteins RPL23A, RPS7 and RPL5. Binds to a beta-like import receptor binding (BIB) domain of RPL23A. In vitro, mediates nuclear import of H2A, H2B, H3 and H4 histones, and SRP19 (By similarity). Mediates nuclear import of ADAR/ADAR1 isoform 1 and isoform 5 in a RanGTP-dependent manner (PubMed:19124606, PubMed:24753571).
UniProtKB/Swiss-Prot Function:
(Microbial infection) In case of HIV-1 infection, binds and mediates the nuclear import of HIV-1 Rev.

Phenotypes From GWAS Catalog for TNPO1 Gene

Gene Ontology (GO) - Molecular Function for TNPO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA 22658674
GO:0005515 protein binding IPI 17435768
GO:0008139 nuclear localization sequence binding TAS,IBA 21873635
GO:0008536 Ran GTPase binding IEA --
GO:0061608 nuclear import signal receptor activity IBA 21873635
genes like me logo Genes that share ontologies with TNPO1: view
genes like me logo Genes that share phenotypes with TNPO1: view

Animal Model Products

CRISPR Products

miRNA for TNPO1 Gene

miRTarBase miRNAs that target TNPO1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TNPO1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TNPO1 Gene

Localization for TNPO1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TNPO1 Gene

Cytoplasm. Nucleus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TNPO1 gene
Compartment Confidence
nucleus 5
cytosol 5
extracellular 4
cytoskeleton 2
mitochondrion 2
plasma membrane 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytoplasmic bodies (3)
  • Cytosol (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TNPO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus TAS,IBA 21873635
GO:0005737 cytoplasm TAS,IBA 21873635
GO:0005829 cytosol TAS --
GO:0005929 cilium TAS --
GO:0070062 extracellular exosome HDA 18570454
genes like me logo Genes that share ontologies with TNPO1: view

Pathways & Interactions for TNPO1 Gene

genes like me logo Genes that share pathways with TNPO1: view

Pathways by source for TNPO1 Gene

2 GeneGo (Thomson Reuters) pathways for TNPO1 Gene
  • Cell cycle_Spindle assembly and chromosome separation
  • Development_TGF-beta receptor signaling
3 Qiagen pathways for TNPO1 Gene
  • NFAT in Immune Response
  • Ran Pathway
  • SREBP Proteolysis

Gene Ontology (GO) - Biological Process for TNPO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006606 protein import into nucleus IEA,IDA 9144189
GO:0006886 intracellular protein transport IEA --
GO:0015031 protein transport IEA --
GO:0016032 viral process IEA --
GO:0035735 intraciliary transport involved in cilium assembly TAS --
genes like me logo Genes that share ontologies with TNPO1: view

No data available for SIGNOR curated interactions for TNPO1 Gene

Drugs & Compounds for TNPO1 Gene

(2) Drugs for TNPO1 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine triphosphate Experimental Pharma 0

(3) Additional Compounds for TNPO1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with TNPO1: view

Transcripts for TNPO1 Gene

mRNA/cDNA for TNPO1 Gene

7 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TNPO1

Alternative Splicing Database (ASD) splice patterns (SP) for TNPO1 Gene

No ASD Table

Relevant External Links for TNPO1 Gene

GeneLoc Exon Structure for
TNPO1

Expression for TNPO1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TNPO1 Gene

Protein differential expression in normal tissues from HIPED for TNPO1 Gene

This gene is overexpressed in Bone (52.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TNPO1 Gene



Protein tissue co-expression partners for TNPO1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TNPO1

SOURCE GeneReport for Unigene cluster for TNPO1 Gene:

Hs.482497

Evidence on tissue expression from TISSUES for TNPO1 Gene

  • Nervous system(5)
  • Liver(4.5)
  • Spleen(4.4)
  • Kidney(3.9)
  • Eye(3)
  • Pancreas(3)
  • Skin(2.9)
  • Lung(2.8)
  • Muscle(2.5)
  • Intestine(2.5)
  • Blood(2.3)
  • Heart(2.1)
genes like me logo Genes that share expression patterns with TNPO1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for TNPO1 Gene

Orthologs for TNPO1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for TNPO1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia TNPO1 30 31
  • 99.81 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia TNPO1 31
  • 98 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia TNPO1 30 31
  • 95.36 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia TNPO1 30 31
  • 95.19 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Tnpo1 30 17 31
  • 90.79 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Tnpo1 30
  • 90.56 (n)
Oppossum
(Monodelphis domestica)
Mammalia TNPO1 31
  • 73 (a)
OneToOne
Chicken
(Gallus gallus)
Aves TNPO1 30 31
  • 86.98 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia TNPO1 31
  • 97 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia tnpo1 30
  • 83.26 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.1493 30
Zebrafish
(Danio rerio)
Actinopterygii TNPO1 (2 of 2) 31
  • 80 (a)
OneToMany
tnpo1 30 31
  • 77.94 (n)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta Trn 30 31
  • 66.03 (n)
ManyToMany
CG8219 31
  • 60 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005892 30
  • 65.2 (n)
Worm
(Caenorhabditis elegans)
Secernentea imb-2 30 31
  • 55.25 (n)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes KAP104 31 33
  • 32 (a)
OneToMany
Thale Cress
(Arabidopsis thaliana)
eudicotyledons TRN1 30
  • 52.51 (n)
Rice
(Oryza sativa)
Liliopsida Os04g0691500 30
  • 53.06 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.5618 31
  • 72 (a)
OneToMany
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes kap104 30
  • 52.71 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU03690 30
  • 48.21 (n)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.9387 30
Species where no ortholog for TNPO1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for TNPO1 Gene

ENSEMBL:
Gene Tree for TNPO1 (if available)
TreeFam:
Gene Tree for TNPO1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TNPO1: view image

Paralogs for TNPO1 Gene

Paralogs for TNPO1 Gene

(2) SIMAP similar genes for TNPO1 Gene using alignment to 4 proteins:

  • TNPO1_HUMAN
  • B4DSC0_HUMAN
  • E7EW37_HUMAN
  • S4R398_HUMAN

Pseudogenes.org Pseudogenes for TNPO1 Gene

genes like me logo Genes that share paralogs with TNPO1: view

Variants for TNPO1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TNPO1 Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
691460 Uncertain Significance: Pyloric stenosis; Esophageal atresia 72,855,906(+) T/C MISSENSE_VARIANT,INTRON_VARIANT
771379 Benign: not provided 72,887,228(+) CCTAAGTCCAGTTTGA INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for TNPO1 Gene

Structural Variations from Database of Genomic Variants (DGV) for TNPO1 Gene

Variant ID Type Subtype PubMed ID
esv2730296 CNV deletion 23290073
esv2730297 CNV deletion 23290073
nsv525479 CNV loss 19592680
nsv830343 CNV loss 17160897
nsv950089 CNV duplication 24416366
nsv968208 CNV duplication 23825009

Variation tolerance for TNPO1 Gene

Residual Variation Intolerance Score: 7.64% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.09; 22.14% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TNPO1 Gene

Human Gene Mutation Database (HGMD)
TNPO1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TNPO1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TNPO1 Gene

Disorders for TNPO1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for TNPO1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
retinitis pigmentosa 2
  • rp2
amyotrophic lateral sclerosis 20
  • als20
retinitis pigmentosa
  • retinitis pigmentosa 1
- elite association - COSMIC cancer census association via MalaCards
Search TNPO1 in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with TNPO1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TNPO1 Gene

Publications for TNPO1 Gene

  1. Karyopherin beta2 mediates nuclear import of a mRNA binding protein. (PMID: 9144189) Bonifaci N … Blobel G (Proceedings of the National Academy of Sciences of the United States of America 1997) 2 3 4 23
  2. RNA-regulated interaction of transportin-1 and exportin-5 with the double-stranded RNA-binding domain regulates nucleocytoplasmic shuttling of ADAR1. (PMID: 19124606) Fritz J … Jantsch MF (Molecular and cellular biology 2009) 3 4 23
  3. Structure of the nuclear transport complex karyopherin-beta2-Ran x GppNHp. (PMID: 10353245) Chook YM … Blobel G (Nature 1999) 3 4 23
  4. A novel receptor-mediated nuclear protein import pathway. (PMID: 8808633) Pollard VW … Dreyfuss G (Cell 1996) 2 3 4
  5. A bimodular nuclear localization signal assembled via an extended double-stranded RNA-binding domain acts as an RNA-sensing signal for transportin 1. (PMID: 24753571) Barraud P … Allain FH (Proceedings of the National Academy of Sciences of the United States of America 2014) 3 4

Products for TNPO1 Gene

  • Addgene plasmids for TNPO1

Sources for TNPO1 Gene