• Gene id: 3842

Gene Summary

• Gene Symbol: TNPO1   Gene   UCSC   Ensembl
• Aliases: IPO2, KPNB2, MIP, MIP1, TRN
• Gene name: transportin 1
• Alternate names: transportin-1, M9 region interaction protein, importin 2, importin beta 2, karyopherin (importin) beta 2, karyopherin beta-2,
• Gene location: 5q13.2 (72816590: 72916740)     Exons: 22     NC_000005.10
• Gene summary(Entrez): 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
• OMIM: 602901

Protein Summary

• Protein general information: Q92973  
  • Name: Transportin 1 (Importin beta 2) (Karyopherin beta 2) (M9 region interaction protein) (MIP)
  • Length: 898  
  • Mass: 102355
• Sequence:

  MVWDRQTKMEYEWKPDEQGLQQILQLLKESQSPDTTIQRTVQQKLEQLNQYPDFNNYLIFVLTKLKSEDEPTRSL
  SGLILKNNVKAHFQNFPNGVTDFIKSECLNNIGDSSPLIRATVGILITTIASKGELQNWPDLLPKLCSLLDSEDY
  NTCEGAFGALQKICEDSAEILDSDVLDRPLNIMIPKFLQFFKHSSPKIRSHAVACVNQFIISRTQALMLHIDSFI
  ENLFALAGDEEPEVRKNVCRALVMLLEVRMDRLLPHMHNIVEYMLQRTQDQDENVALEACEFWLTLAEQPICKDV
  LVRHLPKLIPVLVNGMKYSDIDIILLKGDVEEDETIPDSEQDIRPRFHRSRTVAQQHDEDGIEEEDDDDDEIDDD
  DTISDWNLRKCSAAALDVLANVYRDELLPHILPLLKELLFHHEWVVKESGILVLGAIAEGCMQGMIPYLPELIPH
  LIQCLSDKKALVRSITCWTLSRYAHWVVSQPPDTYLKPLMTELLKRILDSNKRVQEAACSAFATLEEEACTELVP
  YLAYILDTLVFAFSKYQHKNLLILYDAIGTLADSVGHHLNKPEYIQMLMPPLIQKWNMLKDEDKDLFPLLECLSS
  VATALQSGFLPYCEPVYQRCVNLVQKTLAQAMLNNAQPDQYEAPDKDFMIVALDLLSGLAEGLGGNIEQLVARSN
  ILTLMYQCMQDKMPEVRQSSFALLGDLTKACFQHVKPCIADFMPILGTNLNPEFISVCNNATWAIGEISIQMGIE
  MQPYIPMVLHQLVEIINRPNTPKTLLENTAITIGRLGYVCPQEVAPMLQQFIRPWCTSLRNIRDNEEKDSAFRGI
  CTMISVNPSGVIQDFIFFCDAVASWINPKDDLRDMFCKILHGFKNQVGDENWRRFSDQFPLPLKERLAAFYGV

• Structural information:
  • Protein Domains: (41..10-)
    (/note="Importin-N-terminal)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00115"-)
  • Interpro: IPR011989  IPR016024  IPR001494  IPR040122  
  • Prosite: PS50166
  • PDB: 1QBK 2H4M 2OT8 2QMR 2Z5J 2Z5K 2Z5M 2Z5N 2Z5O 4FDD 4FQ3 4JLQ 4OO6 5J3V 5TQC 5YVG 5YVH 5YVI
  • PDBsum: 1QBK 2H4M 2OT8 2QMR 2Z5J 2Z5K 2Z5M 2Z5N 2Z5O 4FDD 4FQ3 4JLQ 4OO6 5J3V 5TQC 5YVG 5YVH 5YVI
  • DIP: 29335
  • STRING: ENSP00000336712
• Other Databases: GeneCards:  TNPO1  Malacards:  TNPO1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005634	nucleus	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0006606	protein import into nucleus	IBA	biological process
GO:0008139	nuclear localization sequence binding	IBA	molecular function
GO:0061608	nuclear import signal receptor activity	IBA	molecular function
GO:0006606	protein import into nucleus	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0006606	protein import into nucleus	IEA	biological process
GO:0006886	intracellular protein transport	IEA	biological process
GO:0008536	Ran GTPase binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0016032	viral process	IEA	biological process
GO:0015031	protein transport	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0008139	nuclear localization sequence binding	TAS	molecular function
GO:0005634	nucleus	TAS	cellular component
GO:0005737	cytoplasm	TAS	cellular component
GO:0005929	cilium	TAS	cellular component
GO:0035735	intraciliary transport involved in cilium assembly	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0043488	regulation of mRNA stability	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0003723	RNA binding	HDA	molecular function
GO:0003723	RNA binding	HDA	molecular function

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray