1. Gene
  2. TNPO1 - transportin 1 Gene

TNPO1 - transportin 1 Gene

Homo sapiens

Also known as MIP; TRN; IPO2; MIP1; KPNB2

Gene ID: 3842 | Gene type: protein coding

About TNPO1

Cytogenetic location: 5q13.2 Genomic coordinates (GRCh38): 5:72,816,661-72,914,388 (from NCBI)

This gene has 19 transcripts (splice variants), 215 orthologues and 5 paralogues. Ubiquitous expression in thyroid (RPKM 18.9), testis (RPKM 17.9) and 25 other tissues.

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]

TNPO1 Products(7)

mRNA Protein Name
NM_001364292.3 NP_001351221.1 transportin-1 isoform 2
NM_001364293.3 NP_001351222.1 transportin-1 isoform 2
NM_001364294.3 NP_001351223.1 transportin-1 isoform 3
NM_001364295.3 NP_001351224.1 transportin-1 isoform 4
NM_001364296.2 NP_001351225.1 transportin-1 isoform 5
NM_002270.4 NP_002261.3 transportin-1 isoform 1
NM_153188.4 NP_694858.1 transportin-1 isoform 2
Gene Ontology
  • Molecular Function
  • Biological Process
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
10353245 GOA
Biological Process GO Annotation Evidence Reference Source
involved in protein import into nucleus IDA
IDA: Inferred from direct assay
9144189 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TNPO1 Protein Structure

IBN_N

IBN_N: Importin-beta N-terminal domain (42 - 108)

HEAT_EZ

HEAT_EZ: HEAT-like repeat (419 - 472)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 898 a.a.
Protein Preferred Names Protein Names

transportin-1

M9 region interaction protein

Related Diseases

Diseases Alias
Retinitis Pigmentosa 2

RP2

X-Linked Retinitis Pigmentosa 2

Xlrp2

Xlrp-2

Retinitis Pigmentosa-2

Retinitis Pigmentosa, Type 2

Multisystem Proteinopathy
Meningoencephalitis

Acquired Toxoplasmal Meningoencephalitis

Meningoencephalitis Due To Acquired Toxoplasmosis

Meningoencephalitis Due To Toxoplasmosis

Toxoplasma Meningoencephalitis

Epithelial-Stromal Tgfbi Dystrophy
Lattice Corneal Dystrophy

Familial Amyloid Neuropathy, Finnish Type

Familial Amyloid Polyneuropathy, Type V

Frontotemporal Dementia

Pallidopontonigral Degeneration

Frontotemporal Lobar Degeneration

Semantic Dementia

FTD

Frontotemporal Lobe Dementia

Multiple System Tauopathy With Presenile Dementia

Dementia, Frontotemporal

Frontotemporal Dementia With Parkinsonism

Mstd

Frontotemporal Lobar Degeneration With Tau Inclusions

Ftld With Tau Inclusions

Dementia, Frontotemporal, With Parkinsonism

Fldem

Ftdp17

Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex

Ddpac

Wilhelmsen-Lynch Disease

Wld

Ppnd

Dementia, Frontotemporal, With Or Without Parkinsonism

Semantic Primary Progressive Aphasia

Semantic Variant Ppa

Wilhemsen-Lynch Disease

Frontotemporal Dementia-Amyotrophic Lateral Sclerosis

Frontotemporal Dementia And Parkinsonism Linked To Chromosome 17

Ftd-Als

Ftld

Pick Complex

Pick Disease Of The Brain

Frontotemporal Dementia With Parkinsonism-17

Grn-Related Frontotemporal Dementia

Frontotemporal Dementia With Motor Neuron Disease

Dementia In Fronto-Temporal Lobar Degeneration

Ftd - [Frontotemporal Dementia]

Temple Dementia

Frontal Lobe Dementia

Amyotrophic Lateral Sclerosis 1

Amyotrophic Lateral Sclerosis

ALS

Lou Gehrig Disease

Amyotrophic Lateral Sclerosis Type 1

Charcot Disease

ALS1

Amyotrophic Lateral Sclerosis, Susceptibility To

Fals

Lou Gehrig'S Disease

Mnd

Motor Neuron Disease

Familial Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis 1, Familial

Amyotrophic Lateral Sclerosis 1, Autosomal Dominant

Motor Neuron Disease, Bulbar

Motor Neurone Disease

Amyotrophic Lateral Sclerosis With Dementia

Dementia With Amyotrophic Lateral Sclerosis

Motor Neuron Disease, Amyotrophic Lateral Sclerosis

Sclerosis, Lateral, Amyotrophic

Sclerosis, Lateral, Amyotrophic, Type 1

Amyotrophic Sclerosis

Als - [Amyotrophic Lateral Sclerosis]

Wasting Palsy

Amyotrophic Paralysis

Amyotrophy Lateral Sclerosis

Wasting Paralysis

Spinal Progressive Amyotrophy

Progressive Atrophic Paralysis

Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Rattus norvegicus TNPO1 RGD RGD:1308372
Felis catus TNPO1 VGNC VGNC:67980
Bos taurus TNPO1 VGNC VGNC:36199
Canis familiaris TNPO1 VGNC VGNC:47694
Macaca mulatta TNPO1 VGNC VGNC:79961
Mus musculus TNPO1 MGD MGI:2681523