PDB ID 2H4M     CHAIN A
Protein name Transportin-1
Uniprot Accession Q92973
The number of similar proteins 21
The number of binding states 8
The number of binding partners 8

Coloring

Unicolor (beige)

The number of binding partners

Group

Binding
state		 Binding partners
2H4M (CHAIN: A)
1 Q92973   P09651  
2 Monomeric state
3 P35637  
4 Q9UBU9  
5 Q8TBR3  
6 P32505  
7 P52272  
8 P62826  

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Molecule viewer


Only interaction residues
#binding
partners
  7
  6
  5
  4
  3
  2
  1
  0

Sequence information

1   MEYEWKPDEQ   GLQQILQLLK   ESQSPDTTIQ   RTVQQKLEQL   NQYPDFNNYL   50
51   IFVLTKLKSE   DEPTRSLSGL   ILKNNVKAHF   QNFPNGVTDF   IKSECLNNIG   100
101   DSSPLIRATV   GILITTIASK   GELQNWPDLL   PKLCSLLDSE   DYNTCEGAFG   150
151   ALQKICEDSA   EILDSDVLDR   PLNIMIPKFL   QFFKHSSPKI   RSHAVACVNQ   200
201   FIISRTQALM   LHIDSFIENL   FALAGDEEPE   VRKNVCRALV   MLLEVRMDRL   250
251   LPHMHNIVEY   MLQRTQDQDE   NVALEACEFW   LTLAEQPICK   DVLVRHLPKL   300
301   IPVLVNGMKY   SDIDIILLKG   DVEEDETIPD   SEQDIGGSGG   SGDTISDWNL   350
351   RKCSAAALDV   LANVYRDELL   PHILPLLKEL   LFHHEWVVKE   SGILVLGAIA   400
401   EGCMQGMIPY   LPELIPHLIQ   CLSDKKALVR   SITCWTLSRY   AHWVVSQPPD   450
451   TYLKPLMTEL   LKRILDSNKR   VQEAACSAFA   TLEEEACTEL   VPYLAYILDT   500
501   LVFAFSKYQH   KNLLILYDAI   GTLADSVGHH   LNKPEYIQML   MPPLIQKWNM   550
551   LKDEDKDLFP   LLECLSSVAT   ALQSGFLPYC   EPVYQRCVNL   VQKTLAQAML   600
601   NNAQPDQYEA   PDKDFMIVAL   DLLSGLAEGL   GGNIEQLVAR   SNILTLMYQC   650
651   MQDKMPEVRQ   SSFALLGDLT   KACFQHVKPC   IADFMPILGT   NLNPEFISVC   700
701   NNATWAIGEI   SIQMGIEMQP   YIPMVLHQLV   EIINRPNTPK   TLLENTAITI   750
751   GRLGYVCPQE   VAPMLQQFIR   PWCTSLRNIR   DNEEKDSAFR   GICTMISVNP   800
801   SGVIQDFIFF   CDAVASWINP   KDDLRDMFCK   ILHGFKNQVG   DENWRRFSDQ   850
851   FPLPLKERLA   AFYGV         900

Variants

Residue AA Source /
dbSNP		 Clinical
Significance
 Allele
Frequency
(> 0.0001)		 AlphaMissense
pathogenicity		 Disease name
45_ASP GLU 8.3kJPN
chr5:72147100
-
- 0.0001 0.8498 -
62_GLU TER 8.3kJPN
chr19:12829990
-
- 0.0001 - -
99_ILE VAL 8.3kJPN
chr5:72151714
-
- 0.0001 0.0729 -
158_ASP ASN ClinVar
chr19:12826319
rs2145582779
Pathogenic - 0.9979 Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies [MONDO:MONDO:0859197,MedGen:C5561997,OMIM:619556]
158_ASP TYR ClinVar
chr19:12826319
-
Likely pathogenic - 0.9986 Inborn genetic diseases [MeSH:D030342,MedGen:C0950123]
196_ALA THR 8.3kJPN
chr19:12826125
rs1295567219
- 0.0001 0.7209 -
278_GLU LYS ClinVar
chr19:12825699
-
Likely pathogenic - 0.9991 Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies [MONDO:MONDO:0859197,MedGen:C5561997,OMIM:619556]
285_GLU ASP 8.3kJPN
chr5:72173132
rs74481451
- 0.0005 0.6919 -
298_PRO SER gnomAD
chr5:72173169
rs200584417
- 0.000864074 0.0904 -
298_PRO SER 8.3kJPN
chr5:72173169
rs200584417
- 0.0039 0.0904 -
373_TRP ARG ClinVar
chr19:12822119
rs2145550093
Pathogenic - 1.0 Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies [MONDO:MONDO:0859197,MedGen:C5561997,OMIM:619556]
373_TRP CYS ClinVar
chr19:12822117
rs2145550047
Pathogenic - 1.0 Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies [MONDO:MONDO:0859197,MedGen:C5561997,OMIM:619556]
409_PRO HIS gnomAD
chr19:12821488
rs540927121
- 0.000101081 - -
424_ILE VAL 8.3kJPN
chr19:12821444
-
- 0.0001 0.0913 -
445_GLN ARG 8.3kJPN
chr5:72183959
rs564000608
- 0.0001 0.0931 -
488_ARG HIS 8.3kJPN
chr5:72184088
rs780190241
- 0.0001 0.5589 -
492_GLY SER 8.3kJPN
chr19:12817415
-
- 0.0001 - -
513_THR MET 8.3kJPN
chr19:12817149
rs928860731
- 0.0001 0.2477 -
517_PRO LEU ClinVar
chr19:12817137
-
Likely pathogenic - 0.9171 TNPO2-related condition [-]
549_ALA VAL ClinVar
chr19:12817041
rs2145492785
Pathogenic - 0.9981 Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies [MONDO:MONDO:0859197,MedGen:C5561997,OMIM:619556]
551_SER PHE ClinVar
chr19:12817035
rs2145492753
Likely pathogenic - 0.9957 Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies [MONDO:MONDO:0859197,MedGen:C5561997,OMIM:619556]
558_LYS GLU 8.3kJPN
chr5:72185779
-
- 0.0001 0.3048 -
632_GLN ARG 8.3kJPN
chr5:72189226
-
- 0.0001 0.1623 -
686_SER THR ClinVar
chr19:12814590
rs2145464965
Likely pathogenic - 0.9859 Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies [MONDO:MONDO:0859197,MedGen:C5561997,OMIM:619556]
692_GLY ASP 8.3kJPN
chr5:72189486
-
- 0.0001 1.0 -
705_CYS SER 8.3kJPN
chr5:72189525
-
- 0.0001 0.3794 -
732_ILE VAL 8.3kJPN
chr5:72192359
rs757638391
- 0.0001 0.1565 -
744_GLN ARG gnomAD
chr5:72192895
rs199950184
- 0.000333497 0.1374 -
821_ILE THR 8.3kJPN
chr5:72196872
rs201701131
- 0.0001 0.9903 -
828_VAL ILE 8.3kJPN
chr5:72196892
rs749218563
- 0.0001 0.1341 -
839_VAL ILE gnomAD
chr5:72199560
rs113153605
- 0.000551317 0.1413 -
839_VAL ILE 8.3kJPN
chr5:72199560
rs113153605
- 0.0001 0.1413 -
854_TYR PHE 8.3kJPN
chr19:12812416
-
- 0.0001 - -
858_HIS TYR 8.3kJPN
chr5:72201136
-
- 0.0001 0.1151 -
858_HIS LEU 8.3kJPN
chr5:72201137
-
- 0.0001 0.1328 -
878_PRO LEU 8.3kJPN
chr19:12812200
rs201711242
- 0.0002 - -
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Reference

PiSite: a database of protein interaction sites using multiple binding states in the PDB, Miho Higurashi, Takashi Ishida and Kengo Kinoshita, Nucleic Acids Research 2009 37(Database issue):D360-D364

COPYRIGHTc2008-2019 Miho Higurashi, Takashi Ishida and Kengo Kinoshita. All rights reserved.