Gene Gene information from NCBI Gene database.
Entrez ID 3842
Gene name Transportin 1
Gene symbol TNPO1
Synonyms (NCBI Gene)
IPO2KPNB2MIPMIP1TRN
Chromosome 5
Chromosome location 5q13.2
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
miRNA miRNA information provided by mirtarbase database.
1737
miRTarBase ID miRNA Experiments Reference
MIRT003172 hsa-miR-210-3p immunoprecipitaionMicroarrayqRT-PCR 19826008
MIRT003172 hsa-miR-210-3p immunoprecipitaionMicroarrayqRT-PCR 19826008
MIRT021043 hsa-miR-155-5p Proteomics 21310411
MIRT023181 hsa-miR-124-3p Microarray 18668037
MIRT025575 hsa-miR-34a-5p Sequencing 20371350
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
IRF3 Unknown 20483755
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
23
GO ID Ontology Definition Evidence Reference
GO:0003723 Function RNA binding HDA 22658674, 22681889
GO:0005515 Function Protein binding IPI 10353245, 17435768, 17474147, 19124606, 22778397, 35271311
GO:0005634 Component Nucleus IBA
GO:0005634 Component Nucleus IEA
GO:0005634 Component Nucleus TAS 9144189
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602901 6401 ENSG00000083312
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q92973
Protein name Transportin-1 (Importin beta-2) (Karyopherin beta-2) (M9 region interaction protein) (MIP)
Protein function Functions in nuclear protein import as nuclear transport receptor. Serves as receptor for nuclear localization signals (NLS) in cargo substrates (PubMed:24753571). May mediate docking of the importin/substrate complex to the nuclear pore complex
PDB 1QBK , 2H4M , 2OT8 , 2QMR , 2Z5J , 2Z5K , 2Z5M , 2Z5N , 2Z5O , 4FDD , 4FQ3 , 4JLQ , 4OO6 , 5J3V , 5TQC , 5YVG , 5YVH , 5YVI , 7CYL , 7VPW , 8SGH
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03810 IBN_N 41 109 Importin-beta N-terminal domain Family
PF13513 HEAT_EZ 419 473 Repeat
Sequence
MVWDRQTKMEYEWKPDEQGLQQILQLLKESQSPDTTIQRTVQQKLEQLNQYPDFNNYLIF
VLTKLKSEDEPTRSLSGLILKNNVKAHFQNFPNGVTDFIKSECLNNIGD
SSPLIRATVGI
LITTIASKGELQNWPDLLPKLCSLLDSEDYNTCEGAFGALQKICEDSAEILDSDVLDRPL
NIMIPKFLQFFKHSSPKIRSHAVACVNQFIISRTQALMLHIDSFIENLFALAGDEEPEVR
KNVCRALVMLLEVRMDRLLPHMHNIVEYMLQRTQDQDENVALEACEFWLTLAEQPICKDV
LVRHLPKLIPVLVNGMKYSDIDIILLKGDVEEDETIPDSEQDIRPRFHRSRTVAQQHDED
GIEEEDDDDDEIDDDDTISDWNLRKCSAAALDVLANVYRDELLPHILPLLKELLFHHEWV
VKESGILVLGAIAEGCMQGMIPYLPELIPHLIQCLSDKKALVRSITCWTLSRY
AHWVVSQ
PPDTYLKPLMTELLKRILDSNKRVQEAACSAFATLEEEACTELVPYLAYILDTLVFAFSK
YQHKNLLILYDAIGTLADSVGHHLNKPEYIQMLMPPLIQKWNMLKDEDKDLFPLLECLSS
VATALQSGFLPYCEPVYQRCVNLVQKTLAQAMLNNAQPDQYEAPDKDFMIVALDLLSGLA
EGLGGNIEQLVARSNILTLMYQCMQDKMPEVRQSSFALLGDLTKACFQHVKPCIADFMPI
LGTNLNPEFISVCNNATWAIGEISIQMGIEMQPYIPMVLHQLVEIINRPNTPKTLLENTA
ITIGRLGYVCPQEVAPMLQQFIRPWCTSLRNIRDNEEKDSAFRGICTMISVNPSGVIQDF
IFFCDAVASWINPKDDLRDMFCKILHGFKNQVGDENWRRFSDQFPLPLKERLAAFYGV
Sequence length 898
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Nucleocytoplasmic transport   Tristetraprolin (TTP, ZFP36) binds and destabilizes mRNA
Intraflagellar transport
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
7
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ATRIAL FIBRILLATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BLADDER CALCULUS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GILLES DE LA TOURETTE SYNDROME Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adult Medulloblastoma Medulloblastoma BEFREE 28777795
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 23056579, 24899704, 27381509
★☆☆☆☆
Found in Text Mining only
Arthritis Arthritis Pubtator 22035391 Stimulate
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis Pubtator 35388333 Associate
★☆☆☆☆
Found in Text Mining only
Bone Diseases Bone Disease BEFREE 14565645
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 35982039 Associate
★☆☆☆☆
Found in Text Mining only
Childhood Medulloblastoma Medulloblastoma BEFREE 28777795
★☆☆☆☆
Found in Text Mining only
Chronic Obstructive Airway Disease Chronic Obstructive Pulmonary Disease GWASCAT_DG 30804561
★☆☆☆☆
Found in Text Mining only
Chronic progressive external ophthalmoplegia Progressive External Ophthalmoplegia BEFREE 16368709
★☆☆☆☆
Found in Text Mining only
Complete atrioventricular block Complete Atrioventricular Block BEFREE 22710188
★☆☆☆☆
Found in Text Mining only