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TNPO1 transportin 1 [ Homo sapiens (human) ]

Gene ID: 3842, updated on 7-Apr-2024

Summary

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Official Symbol
TNPO1provided by HGNC
Official Full Name
transportin 1provided by HGNC
Primary source
HGNC:HGNC:6401
See related
Ensembl:ENSG00000083312 MIM:602901; AllianceGenome:HGNC:6401
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MIP; TRN; IPO2; MIP1; KPNB2
Summary
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]
Expression
Ubiquitous expression in thyroid (RPKM 18.9), testis (RPKM 17.9) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
5q13.2
Exon count:
26
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (72816661..72914388)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (73297810..73395474)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (72112488..72210215)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene TNPO1 divergent transcript Neighboring gene ribosomal protein L7 pseudogene 22 Neighboring gene H2B.L histone variant 1, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22653 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16083 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16084 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22654 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22655 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16085 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22656 Neighboring gene ribosomal protein L35a pseudogene 13 Neighboring gene microRNA 4804 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16086 Neighboring gene FCHO2 divergent transcript Neighboring gene FCH and mu domain containing endocytic adaptor 2 Neighboring gene CTDNEP1 pseudogene 2

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. A minimal construct of nuclear-import receptor Karyopherin-β2 defines the regions critical for chaperone and disaggregation activity. Fare CM, et al. J Biol Chem, 2023 Feb. PMID 36529289, Free PMC Article
  2. Transportin-1 binds to the HIV-1 capsid via a nuclear localization signal and triggers uncoating. Fernandez J, et al. Nat Microbiol, 2019 Nov. PMID 31611641
  3. Influenza virus uses transportin 1 for vRNP debundling during cell entry. Miyake Y, et al. Nat Microbiol, 2019 Apr. PMID 30692667
  4. Karyopherin-β2 Recognition of a PY-NLS Variant that Lacks the Proline-Tyrosine Motif. Soniat M, et al. Structure, 2016 Oct 4. PMID 27618664, Free PMC Article
  5. Conformational heterogeneity of karyopherin beta2 is segmental. Cansizoglu AE, et al. Structure, 2007 Nov. PMID 17997969, Free PMC Article

See all (218) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Rab8 and TNPO1 are ciliary transport adaptors for GTPase Arl13b by interacting with its RVEP motif containing ciliary targeting sequence.
    Title: Rab8 and TNPO1 are ciliary transport adaptors for GTPase Arl13b by interacting with its RVEP motif containing ciliary targeting sequence.
  2. Transportin 1 is a major nuclear import receptor of the nitric oxide synthase interacting protein.
    Title: Transportin 1 is a major nuclear import receptor of the nitric oxide synthase interacting protein.
  3. A minimal construct of nuclear-import receptor Karyopherin-beta2 defines the regions critical for chaperone and disaggregation activity.
    Title: A minimal construct of nuclear-import receptor Karyopherin-β2 defines the regions critical for chaperone and disaggregation activity.
  4. Tumor suppressor BAP1 nuclear import is governed by transportin-1.
    Title: Tumor suppressor BAP1 nuclear import is governed by transportin-1.
  5. Mechanism of karyopherin-beta2 binding and nuclear import of ALS variants FUS(P525L) and FUS(R495X).
    Title: Mechanism of karyopherin-β2 binding and nuclear import of ALS variants FUS(P525L) and FUS(R495X).
  6. TNPO1-mediated nuclear import of ARID1B promotes tumor growth in ARID1A-deficient gynecologic cancer.
    Title: TNPO1-mediated nuclear import of ARID1B promotes tumor growth in ARID1A-deficient gynecologic cancer.
  7. TNPO1-Mediated Nuclear Import of FUBP1 Contributes to Tumor Immune Evasion by Increasing NRP1 Expression in Cervical Cancer.
    Title: TNPO1-Mediated Nuclear Import of FUBP1 Contributes to Tumor Immune Evasion by Increasing NRP1 Expression in Cervical Cancer.
  8. C9orf72-derived arginine-rich poly-dipeptides impede phase modifiers.
    Title: C9orf72-derived arginine-rich poly-dipeptides impede phase modifiers.
  9. Lysine acetylation regulates the RNA binding, subcellular localization and inclusion formation of FUS.
    Title: Lysine acetylation regulates the RNA binding, subcellular localization and inclusion formation of FUS.
  10. HIV-1 resists MxB inhibition of viral Rev protein.
    Title: HIV-1 resists MxB inhibition of viral Rev protein.
Submit: New GeneRIF Correction See all GeneRIFs (50)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Rev rev HIV-1 Rev interacting protein, TNPO1, is identified by the in-vitro binding experiments involving cytosolic or nuclear extracts from HeLa cells PubMed
rev importin beta specifically binds to the Rev nuclear localization signal (NLS, amino acids 35-50) and mediates the nuclear import of Rev PubMed
rev Importin beta can inhibit the interaction of HIV-1 Rev with HIV-1 RRE RNA PubMed
Tat tat The binding of HIV-1 Tat with importin beta is inhibited by RanGTP PubMed
tat Importin beta binds to the HIV-1 Tat protein nuclear localization signal (NLS; amino acids 49-57) and mediates the nuclear import of Tat through a novel import pathway PubMed
Vpr vpr HIV-1 Vpr causes increased levels of CyclinB1, Plk1, and Cdk1 in a complex with the nuclear transport and spindle assembly protein, importin beta PubMed
vpr HIV-1 Vpr co-localizes with karyopherin beta and regulates karyopherin beta-mediated docking of the HIV-1 preintegration complex at the nuclear envelope, however multiple reports indicate the two proteins do not directly interact PubMed
integrase gag-pol Some reports indicate a possible role for the interactions between karyopherin alpha and beta with HIV-1 integrase in the nuclear import of HIV-1 preintegration complexes (PIC), while other reports indicate integrase is not involved in PIC nuclear import PubMed
gag-pol Karyopherin beta binds to complexes between HIV-1 integrase (integrase/GST fusion protein) and karyopherin alpha, but not to integrase alone PubMed
gag-pol Karyopherin alpha and beta are reported to interact with HIV-1 integrase (IN) to facilitate nuclear import of IN, however a conflicting report indicates nuclear accumulation of IN does not involve karyopherin alpha, beta 1, or beta 2 mediated pathways PubMed
matrix gag Karyopherin beta mediates the nuclear import of HIV-1 preintegration complexes through karyopherin alpha, which binds directly to nuclear localization signals in HIV-1 Matrix PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables RNA binding HDA PubMed 
enables nuclear import signal receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables nuclear localization sequence binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables small GTPase binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in protein import into nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in protein import into nucleus IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in cilium TAS
Traceable Author Statement
more info
  
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in extracellular exosome HDA PubMed 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
transportin-1
Names
M9 region interaction protein
importin 2
importin beta 2
karyopherin (importin) beta 2
karyopherin beta-2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001364292.3 → NP_001351221.1  transportin-1 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1. Variants 2, 3, and 4 all encode the same isoform (2).
    Source sequence(s)
    AC008953, AC008972, AC035140
    Consensus CDS
    CCDS4016.1
    UniProtKB/TrEMBL
    A0A7P0T944
    Conserved Domains (2) summary
    COG5215
    Location:24 → 759
    KAP95; Karyopherin (importin) beta [Intracellular trafficking and secretion]
    sd00044
    Location:95 → 116
    HEAT; HEAT repeat [structural motif]

  2. NM_001364293.3 → NP_001351222.1  transportin-1 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1. Variants 2, 3, and 4 all encode the same isoform (2).
    Source sequence(s)
    AC008953, AC008972
    Consensus CDS
    CCDS4016.1
    UniProtKB/TrEMBL
    A0A7P0T944
    Conserved Domains (2) summary
    COG5215
    Location:24 → 759
    KAP95; Karyopherin (importin) beta [Intracellular trafficking and secretion]
    sd00044
    Location:95 → 116
    HEAT; HEAT repeat [structural motif]

  3. NM_001364294.3 → NP_001351223.1  transportin-1 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR and coding sequence and lacks an alternate in-frame exon compared to variant 1. The resulting isoform (3) is shorter at the N-terminus and lacks an alternate internal segment compared to isoform 1.
    Source sequence(s)
    AC008953, AC008972
    Consensus CDS
    CCDS93733.1
    UniProtKB/TrEMBL
    A0A7P0T944, A0A7P0TBF0
    Related
    ENSP00000506620.1, ENST00000679378.1
    Conserved Domains (2) summary
    COG5215
    Location:24 → 733
    KAP95; Karyopherin (importin) beta [Intracellular trafficking and secretion]
    sd00044
    Location:95 → 116
    HEAT; HEAT repeat [structural motif]

  4. NM_001364295.3 → NP_001351224.1  transportin-1 isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (4) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AC008953, AC008972, AC035140
    Consensus CDS
    CCDS93732.1
    UniProtKB/TrEMBL
    A0A7P0T944
    Related
    ENSP00000428899.1, ENST00000523768.5
    Conserved Domains (2) summary
    COG5215
    Location:67 → 717
    KAP95; Karyopherin (importin) beta [Intracellular trafficking and secretion]
    sd00044
    Location:87 → 115
    HEAT; HEAT repeat [structural motif]

  5. NM_001364296.2 → NP_001351225.1  transportin-1 isoform 5

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (5) has a shorter and distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AC008953
    Conserved Domains (3) summary
    sd00044
    Location:95 → 116
    HEAT; HEAT repeat [structural motif]
    pfam03810
    Location:34 → 101
    IBN_N; Importin-beta N-terminal domain
    cl27876
    Location:23 → 188
    Cse1

  6. NM_002270.4 → NP_002261.3  transportin-1 isoform 1

    See identical proteins and their annotated locations for NP_002261.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AC008972, AC035140, U70322, U72069
    Consensus CDS
    CCDS43329.1
    UniProtKB/Swiss-Prot
    B4DVC6, Q92957, Q92973, Q92975
    UniProtKB/TrEMBL
    A0A7P0T944
    Related
    ENSP00000336712.5, ENST00000337273.10
    Conserved Domains (2) summary
    COG5215
    Location:32 → 767
    KAP95; Karyopherin (importin) beta [Intracellular trafficking and secretion]
    sd00044
    Location:103 → 124
    HEAT; HEAT repeat [structural motif]

  7. NM_153188.4 → NP_694858.1  transportin-1 isoform 2

    See identical proteins and their annotated locations for NP_694858.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1. Variants 2, 3, and 4 all encode the same isoform (2).
    Source sequence(s)
    AC008953, AC008972, U70322, U72069
    Consensus CDS
    CCDS4016.1
    UniProtKB/TrEMBL
    A0A7P0T944
    Related
    ENSP00000425118.2, ENST00000506351.6
    Conserved Domains (2) summary
    COG5215
    Location:24 → 759
    KAP95; Karyopherin (importin) beta [Intracellular trafficking and secretion]
    sd00044
    Location:95 → 116
    HEAT; HEAT repeat [structural motif]

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    72816661..72914388
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005248501.3 → XP_005248558.1  transportin-1 isoform X2

    See identical proteins and their annotated locations for XP_005248558.1

    UniProtKB/TrEMBL
    A0A7P0T944
    Conserved Domains (2) summary
    COG5215
    Location:32 → 741
    KAP95; Karyopherin (importin) beta [Intracellular trafficking and secretion]
    sd00044
    Location:103 → 124
    HEAT; HEAT repeat [structural motif]

  2. XM_047417167.1 → XP_047273123.1  transportin-1 isoform X1

    UniProtKB/Swiss-Prot
    B4DVC6, Q92957, Q92973, Q92975

  3. XM_047417168.1 → XP_047273124.1  transportin-1 isoform X3

    UniProtKB/TrEMBL
    A0A7P0TBF0

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    73297810..73395474
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054352566.1 → XP_054208541.1  transportin-1 isoform X2

  2. XM_054352565.1 → XP_054208540.1  transportin-1 isoform X1

    UniProtKB/Swiss-Prot
    B4DVC6, Q92957, Q92973, Q92975

  3. XM_054352567.1 → XP_054208542.1  transportin-1 isoform X3

    UniProtKB/TrEMBL
    A0A7P0TBF0
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q92973.2 GenPept UniProtKB/Swiss-Prot:Q92973

Gene LinkOut

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