PDB ID 3HU1     CHAIN A
Protein name Transitional endoplasmic reticulum ATPase
Uniprot Accession P55072
The number of similar proteins 47
The number of binding states 5
The number of binding partners 4

Coloring

Unicolor (beige)

The number of binding partners

Group

Binding
state
Binding partners
3HU1 (CHAIN: A)
1 P55072   P55072  
2 Q9BZE9   Q9BZE9  
3 P55072   Q9BQE4  
4 P55072   P55072   Q9BQE4  
5 Q01853   Q01853   O35987  

Downdload

Format:

Molecule viewer

#binding
partners
  4
  3
  2
  1
  0

Sequence information

1   MASGADSKGD   DLSTAILKQK   NRPNRLIVDE   AINEDNSVVS   LSQPKMDELQ   50
51   LFRGDTVLLK   GKKRREAVCI   VLSDDTCSDE   KIRMNRVVRN   NLRVGLGDVI   100
101   SIQPCPDVKY   GKRIHVLPID   DTVEGITGNL   FEVYLKPYFL   EAYRPIRKGD   150
151   IFLVRGGMRA   VEFKVVETDP   SPYCIVAPDT   VIHCEGEPIK   REDEEESLNE   200
201   VGYDDIGGCR   KQLAQIKEMV   ELPLRHPALF   KAIGVKPPRG   ILLYGPPGTG   250
251   KTLIARAVAN   ETGAFFFLIN   GPEIMSKLAG   ESESNLRKAF   EEAEKNAPAI   300
301   IFIDELDAIA   PKREKTHGEV   ERRIVSQLLT   LMDGLKQRAH   VIVMAATNRP   350
351   NSIDPALRRF   GRFDREVDIG   IPDATGRLEI   LQIHTKNMKL   ADDVDLEQVA   400
401   NETHGHVGAD   LAALCSEAAL   QAIRKKMDLI   DLEDETIDAE   VMNSLAVTMD   450
451   DFRWALSQSN   PSALRETVVE   VPQVTWEDIG   GRSHHHHHH     500

Variants

Residue AA Source dbSNP Clinical
Significance
Allele
Frequency
(4.7kJPN)
Disease name
21_ASN HIS 4.7kJPN
chr9:35068316
-
- 0.0001 -
22_ARG SER 4.7kJPN
chr9:35068313
-
- 0.0001 -
26_LEU PHE 4.7kJPN
chr9:35068299
-
- 0.0001 -
27_ILE MET 4.7kJPN
chr9:35068296
-
- 0.0001 -
31_ALA SER 4.7kJPN
chr9:35068286
-
- 0.0001 -
88_VAL ILE 4.7kJPN
chr9:35067928
-
- 0.0001 -
91_ASN TYR ClinVar
chr9:35067919
rs863225291
Likely pathogenic - Inclusion body myopathy with early-onset paget disease and frontotemporal dementia [MedGen:C4551951,OMIM:167320,Orphanet:ORPHA52430]
93_ARG CYS ClinVar
chr9:35067913
-
Pathogenic - not provided [MedGen:CN517202]
95_ARG GLY ClinVar
chr9:35067907
rs121909332
Pathogenic - Inclusion body myopathy with early-onset paget disease and frontotemporal dementia [MedGen:C4551951,OMIM:167320,Orphanet:ORPHA52430]
95_ARG CYS ClinVar
chr9:35067907
rs121909332
Likely pathogenic - not provided [MedGen:CN517202]
97_GLY GLU VAR_076464 rs864309502
Disease - Charcot-Marie-Tooth disease 2Y (CMT2Y) [MIM:616687]
97_GLY GLU ClinVar
chr9:35067900
rs864309502
Pathogenic - Charcot-Marie-Tooth disease, axonal, type 2y [MedGen:C4225244,OMIM:616687,Orphanet:ORPHA435387]
126_ILE PHE VAR_076465 -
Unclassified - Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 (IBMPFD1) [MIM:167320]
128_GLY ALA ClinVar
chr9:35066734
rs1554668979
Likely pathogenic - not provided [MedGen:CN517202]
155_ARG CYS VAR_033017 rs121909330
Disease - Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 (IBMPFD1) [MIM:167320]
155_ARG HIS VAR_033018 rs121909329
Disease - Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia (ALS14) [MIM:613954]
155_ARG PRO VAR_033019 rs121909329
Disease - Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 (IBMPFD1) [MIM:167320]
155_ARG SER VAR_076466 -
Disease - Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 (IBMPFD1) [MIM:167320]
155_ARG LEU VAR_078910 -
Disease - Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 (IBMPFD1) [MIM:167320]
155_ARG HIS ClinVar
chr9:35065360
rs121909329
Pathogenic - Amyotrophic lateral sclerosis 14 without frontotemporal dementia [MedGen:C3152097]; Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia [MedGen:C3151403,OMIM:613954]; Inclusion body myopathy with early-onset paget disease and frontotemporal dementia [MedGen:C4551951,OMIM:167320,Orphanet:ORPHA52430]; Inclusion body myopathy with early-onset paget disease and frontotemporal dementia [MedGen:C4551951,OMIM:167320,Orphanet:ORPHA52430]; not provided [MedGen:CN517202]
155_ARG CYS ClinVar
chr9:35065361
rs121909330
Pathogenic - Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia [MedGen:C3151403,OMIM:613954]; Inclusion body myopathy with early-onset paget disease and frontotemporal dementia [MedGen:C4551951,OMIM:167320,Orphanet:ORPHA52430]; Inclusion body myopathy with early-onset paget disease and frontotemporal dementia [MedGen:C4551951,OMIM:167320,Orphanet:ORPHA52430]; not provided [MedGen:CN517202]
155_ARG PRO ClinVar
chr9:35065360
rs121909329
Pathogenic - Inclusion body myopathy with early-onset paget disease and frontotemporal dementia [MedGen:C4551951,OMIM:167320,Orphanet:ORPHA52430]
155_ARG GLY ClinVar
chr9:35065361
rs121909330
Pathogenic/Likely pathogenic - Inclusion body myopathy with early-onset paget disease and frontotemporal dementia [MedGen:C4551951,OMIM:167320,Orphanet:ORPHA52430]; not provided [MedGen:CN517202]
159_ARG HIS VAR_033020 rs121909335
Disease - Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 (IBMPFD1) [MIM:167320]
159_ARG GLY VAR_065910 rs387906789
Disease - Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia (ALS14) [MIM:613954]
159_ARG HIS ClinVar
chr9:35065348
rs121909335
Pathogenic - Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia [MedGen:C3151403,OMIM:613954]; Inclusion body myopathy with early-onset paget disease and frontotemporal dementia [MedGen:C4551951,OMIM:167320,Orphanet:ORPHA52430]; Inclusion body myopathy with early-onset paget disease and frontotemporal dementia [MedGen:C4551951,OMIM:167320,Orphanet:ORPHA52430]; not provided [MedGen:CN517202]
159_ARG GLY ClinVar
chr9:35065349
rs387906789
Pathogenic - Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia [MedGen:C3151403,OMIM:613954]
159_ARG CYS ClinVar
chr9:35065349
rs387906789
Pathogenic - not provided [MedGen:CN517202]
185_GLU LYS VAR_076467 rs864309501
Disease - Charcot-Marie-Tooth disease 2Y (CMT2Y) [MIM:616687]
185_GLU LYS ClinVar
chr9:35065271
rs864309501
Pathogenic - Charcot-Marie-Tooth disease, axonal, type 2y [MedGen:C4225244,OMIM:616687,Orphanet:ORPHA435387]
191_ARG GLN VAR_033021 rs121909334
Disease - Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia (ALS14) [MIM:613954]
191_ARG GLN ClinVar
chr9:35065252
rs121909334
Pathogenic/Likely pathogenic - Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia [MedGen:C3151403,OMIM:613954]; Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia [MedGen:C3151403,OMIM:613954]; Inclusion body myopathy with early-onset paget disease and frontotemporal dementia [MedGen:C4551951,OMIM:167320,Orphanet:ORPHA52430]; Inclusion body myopathy with early-onset paget disease and frontotemporal dementia [MedGen:C4551951,OMIM:167320,Orphanet:ORPHA52430]; not provided [MedGen:CN517202]
198_LEU TRP VAR_076468 -
Disease - Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 (IBMPFD1) [MIM:167320]
222_LEU GLN 4.7kJPN
chr9:35064194
-
- 0.0001 -
232_ALA GLU VAR_033022 rs121909331
Disease - Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 (IBMPFD1) [MIM:167320]
232_ALA GLU ClinVar
chr9:35064164
rs121909331
Pathogenic - Inclusion body myopathy with early-onset paget disease and frontotemporal dementia [MedGen:C4551951,OMIM:167320,Orphanet:ORPHA52430]
387_ASN HIS VAR_078911 -
Unclassified - Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 (IBMPFD1) [MIM:167320]
411_LEU PHE 4.7kJPN
chr9:35061138
-
- 0.0001 -
424_ARG SER 4.7kJPN
chr9:35061101
-
- 0.0001 -
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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.