PDB ID 3HU1     CHAIN A
Protein name Transitional endoplasmic reticulum ATPase
Uniprot Accession P55072
The number of similar proteins 68
The number of binding states 11
The number of binding partners 6

Coloring

Unicolor (beige)

The number of binding partners

Group

Binding
state		 Binding partners
3HU1 (CHAIN: A)
1 P55072   P55072  
2 Monomeric state
3 P55072  
4 Q9BQE4  
5 Q9H867  
6 Q9BZE9   Q9BZE9  
7 Q9BZE9   Q9H867  
8 P55072   Q9BQE4  
9 P55072   P55072   Q9LK22  
10 Q01853   Q01853   O35987  
11 P55072   P55072   P55072   Q9UNZ2  

Downdload

Format:

Molecule viewer


Only interaction residues
#binding
partners
  5
  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
(> 0.0001)		 AlphaMissense
pathogenicity		 Disease name
27_ILE VAL gnomAD
chr9:35068298
rs140913250
- 0.000552697 0.0675 -
48_GLU GLN 8.3kJPN
chr9:35068048
-
- 0.0001 0.2896 -
56_THR ALA ClinVar
chr9:35068024
-
Likely pathogenic - 0.495 not provided [MedGen:C3661900]
88_VAL ILE 8.3kJPN
chr9:35067928
-
- 0.0001 0.0909 -
91_ASN TYR ClinVar
chr9:35067919
rs863225291
Pathogenic - 0.971 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1|Frontotemporal dementia and/or amyotrophic lateral sclerosis 6|INCLUSION BODY MYOPATHY WITHOUT EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1|Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [MONDO:MONDO:0008178,MedGen:C4551951,OMIM:167320|MONDO:MONDO:0013501,MedGen:C5436279,OMIM:613954,Orphanet:275872,Orphanet:803||MONDO:MONDO:0013501,MedGen:C5436279,OMIM:613954,Orphanet:275872,Orphanet:803]; Inclusion body myopathy with Paget disease of bone and frontotemporal dementia [MONDO:MONDO:0000507,MedGen:C1833662,OMIM:PS167320,Orphanet:52430]
91_ASN LYS ClinVar
chr9:35067917
rs1563980966
Likely pathogenic - 0.9961 Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [MONDO:MONDO:0013501,MedGen:C5436279,OMIM:613954,Orphanet:275872,Orphanet:803]; Inclusion body myopathy with Paget disease of bone and frontotemporal dementia [MONDO:MONDO:0000507,MedGen:C1833662,OMIM:PS167320,Orphanet:52430]
93_ARG HIS ClinVar
chr9:35067912
rs779959657
Likely pathogenic - 0.5255 not provided|Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [MedGen:C3661900|MONDO:MONDO:0013501,MedGen:C5436279,OMIM:613954,Orphanet:275872,Orphanet:803]; Inclusion body myopathy with Paget disease of bone and frontotemporal dementia [MONDO:MONDO:0000507,MedGen:C1833662,OMIM:PS167320,Orphanet:52430]
93_ARG CYS ClinVar
chr9:35067913
rs1554669087
Pathogenic - 0.7093 not provided|Inclusion body myopathy with Paget disease of bone and frontotemporal dementia [MedGen:C3661900|MONDO:MONDO:0000507,MedGen:C1833662,OMIM:PS167320,Orphanet:52430]; Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [MONDO:MONDO:0013501,MedGen:C5436279,OMIM:613954,Orphanet:275872,Orphanet:803]
95_ARG GLY ClinVar
chr9:35067907
rs121909332
Pathogenic - - Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 [MONDO:MONDO:0008178,MedGen:C4551951,OMIM:167320]
95_ARG HIS ClinVar
chr9:35067906
rs758169026
Likely pathogenic - - Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [MONDO:MONDO:0013501,MedGen:C5436279,OMIM:613954,Orphanet:275872,Orphanet:803]; Inclusion body myopathy with Paget disease of bone and frontotemporal dementia [MONDO:MONDO:0000507,MedGen:C1833662,OMIM:PS167320,Orphanet:52430]
95_ARG SER ClinVar
chr9:35067907
-
Likely pathogenic - - Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [MONDO:MONDO:0013501,MedGen:C5436279,OMIM:613954,Orphanet:275872,Orphanet:803]; Inclusion body myopathy with Paget disease of bone and frontotemporal dementia [MONDO:MONDO:0000507,MedGen:C1833662,OMIM:PS167320,Orphanet:52430]
97_GLY GLU VAR_076464
rs864309502
LP/P - 0.969 Charcot-Marie-Tooth disease, axonal, 2Y (CMT2Y) [MIM:616687]
97_GLY GLU ClinVar
chr9:35067900
rs864309502
Pathogenic - 0.969 Charcot-Marie-Tooth disease type 2Y|Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [MONDO:MONDO:0014735,MedGen:C5569026,OMIM:616687,Orphanet:435387|MONDO:MONDO:0013501,MedGen:C5436279,OMIM:613954,Orphanet:275872,Orphanet:803]; Inclusion body myopathy with Paget disease of bone and frontotemporal dementia [MONDO:MONDO:0000507,MedGen:C1833662,OMIM:PS167320,Orphanet:52430]
98_ASP GLU ClinVar
chr9:35067896
rs1828864269
Likely pathogenic - 0.8851 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 [MONDO:MONDO:0008178,MedGen:C4551951,OMIM:167320]
126_ILE PHE VAR_076465
-
US - 0.8528 Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 (IBMPFD1) [MIM:167320]
128_GLY SER ClinVar
chr9:35066735
-
Likely pathogenic - 0.9184 Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [MONDO:MONDO:0013501,MedGen:C5436279,OMIM:613954,Orphanet:275872,Orphanet:803]; Inclusion body myopathy with Paget disease of bone and frontotemporal dementia [MONDO:MONDO:0000507,MedGen:C1833662,OMIM:PS167320,Orphanet:52430]
137_PRO SER ClinVar
chr9:35066708
rs866101707
Likely pathogenic - 0.9026 Alzheimer disease [Human Phenotype Ontology:HP:0002511,Human Phenotype Ontology:HP:0006878,Human Phenotype Ontology:HP:0007213,MONDO:MONDO:0004975,MeSH:D000544,MedGen:C0002395,Orphanet:1020]
146_ILE VAL 8.3kJPN
chr9:35066681
-
- 0.0001 0.0688 -
155_ARG CYS VAR_033017
rs121909330
LP/P - 0.9488 Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 (IBMPFD1) [MIM:167320]
155_ARG HIS VAR_033018
rs121909329
LP/P - 0.7469 Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (FTDALS6) [MIM:613954]
155_ARG PRO VAR_033019
rs121909329
LP/P - 0.9834 Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 (IBMPFD1) [MIM:167320]
155_ARG SER VAR_076466
rs121909330
LP/P - 0.9834 Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 (IBMPFD1) [MIM:167320]
155_ARG LEU VAR_078910
rs121909329
LP/P - 0.966 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 - 0.7469 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1|not provided|Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [MONDO:MONDO:0008178,MedGen:C4551951,OMIM:167320|MedGen:C3661900|MONDO:MONDO:0013501,MedGen:C5436279,OMIM:613954,Orphanet:275872,Orphanet:803]; Inclusion body myopathy with Paget disease of bone and frontotemporal dementia|Frontotemporal dementia and/or amyotrophic lateral sclerosis 6|Inborn genetic diseases [MONDO:MONDO:0000507,MedGen:C1833662,OMIM:PS167320,Orphanet:52430|MONDO:MONDO:0013501,MedGen:C5436279,OMIM:613954,Orphanet:275872,Orphanet:803|MeSH:D030342,MedGen:C0950123]
155_ARG CYS ClinVar
chr9:35065361
rs121909330
Pathogenic/Likely pathogenic - 0.9488 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1|not provided|Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [MONDO:MONDO:0008178,MedGen:C4551951,OMIM:167320|MedGen:C3661900|MONDO:MONDO:0013501,MedGen:C5436279,OMIM:613954,Orphanet:275872,Orphanet:803]; Inclusion body myopathy with Paget disease of bone and frontotemporal dementia|Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [MONDO:MONDO:0000507,MedGen:C1833662,OMIM:PS167320,Orphanet:52430|MONDO:MONDO:0013501,MedGen:C5436279,OMIM:613954,Orphanet:275872,Orphanet:803]
155_ARG GLY ClinVar
chr9:35065361
rs121909330
Pathogenic/Likely pathogenic - 0.9581 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1|not provided|Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [MONDO:MONDO:0008178,MedGen:C4551951,OMIM:167320|MedGen:C3661900|MONDO:MONDO:0013501,MedGen:C5436279,OMIM:613954,Orphanet:275872,Orphanet:803]; Inclusion body myopathy with Paget disease of bone and frontotemporal dementia [MONDO:MONDO:0000507,MedGen:C1833662,OMIM:PS167320,Orphanet:52430]
155_ARG SER ClinVar
chr9:35065361
rs121909330
Pathogenic - 0.9834 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia [MONDO:MONDO:0000507,MedGen:C1833662,OMIM:PS167320,Orphanet:52430]; Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [MONDO:MONDO:0013501,MedGen:C5436279,OMIM:613954,Orphanet:275872,Orphanet:803]
156_GLY SER ClinVar
chr9:35065358
-
Pathogenic - 0.6561 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia [MONDO:MONDO:0000507,MedGen:C1833662,OMIM:PS167320,Orphanet:52430]; Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [MONDO:MONDO:0013501,MedGen:C5436279,OMIM:613954,Orphanet:275872,Orphanet:803]
157_GLY ARG ClinVar
chr9:35065355
rs1554668814
Pathogenic - 0.9916 not provided [MedGen:C3661900]
157_GLY ARG ClinVar
chr9:35065355
rs1554668814
Pathogenic - 0.9916 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia [MONDO:MONDO:0000507,MedGen:C1833662,OMIM:PS167320,Orphanet:52430]; Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [MONDO:MONDO:0013501,MedGen:C5436279,OMIM:613954,Orphanet:275872,Orphanet:803]
158_MET VAL ClinVar
chr9:35065352
rs1554668813
Pathogenic - 0.77 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia [MONDO:MONDO:0000507,MedGen:C1833662,OMIM:PS167320,Orphanet:52430]; Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [MONDO:MONDO:0013501,MedGen:C5436279,OMIM:613954,Orphanet:275872,Orphanet:803]
159_ARG HIS VAR_033020
rs121909335
LP/P - 0.7601 Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 (IBMPFD1) [MIM:167320]
159_ARG GLY VAR_065910
rs387906789
LP/P - 0.9575 Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (FTDALS6) [MIM:613954]
159_ARG HIS ClinVar
chr9:35065348
rs121909335
Pathogenic - 0.7601 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1|not provided|Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [MONDO:MONDO:0008178,MedGen:C4551951,OMIM:167320|MedGen:C3661900|MONDO:MONDO:0013501,MedGen:C5436279,OMIM:613954,Orphanet:275872,Orphanet:803]; Inclusion body myopathy with Paget disease of bone and frontotemporal dementia|Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [MONDO:MONDO:0000507,MedGen:C1833662,OMIM:PS167320,Orphanet:52430|MONDO:MONDO:0013501,MedGen:C5436279,OMIM:613954,Orphanet:275872,Orphanet:803]
159_ARG GLY ClinVar
chr9:35065349
rs387906789
Pathogenic - 0.9575 Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [MONDO:MONDO:0013501,MedGen:C5436279,OMIM:613954,Orphanet:275872,Orphanet:803]
159_ARG CYS ClinVar
chr9:35065349
rs387906789
Pathogenic/Likely pathogenic - 0.9603 not provided|Frontotemporal dementia and/or amyotrophic lateral sclerosis 6|Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [MedGen:C3661900|MONDO:MONDO:0013501,MedGen:C5436279,OMIM:613954,Orphanet:275872,Orphanet:803|MONDO:MONDO:0013501,MedGen:C5436279,OMIM:613954,Orphanet:275872,Orphanet:803]; Inclusion body myopathy with Paget disease of bone and frontotemporal dementia [MONDO:MONDO:0000507,MedGen:C1833662,OMIM:PS167320,Orphanet:52430]
159_ARG SER ClinVar
chr9:35065349
rs387906789
Pathogenic - 0.9924 Amyotrophic lateral sclerosis type 6 [MONDO:MONDO:0011951,MedGen:C2931786,OMIM:608030,Orphanet:275872,Orphanet:803]
160_ALA THR VAR_088265
-
US - 0.5586 Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 (IBMPFD1) [MIM:167320]
185_GLU LYS VAR_076467
rs864309501
LP/P - 0.9507 Charcot-Marie-Tooth disease, axonal, 2Y (CMT2Y) [MIM:616687]
185_GLU LYS ClinVar
chr9:35065271
rs864309501
Likely pathogenic - 0.9507 Charcot-Marie-Tooth disease type 2Y|Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [MONDO:MONDO:0014735,MedGen:C5569026,OMIM:616687,Orphanet:435387|MONDO:MONDO:0013501,MedGen:C5436279,OMIM:613954,Orphanet:275872,Orphanet:803]; Inclusion body myopathy with Paget disease of bone and frontotemporal dementia|Inborn genetic diseases [MONDO:MONDO:0000507,MedGen:C1833662,OMIM:PS167320,Orphanet:52430|MeSH:D030342,MedGen:C0950123]
191_ARG GLN VAR_033021
rs121909334
LP/P - 0.9555 Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (FTDALS6) [MIM:613954]
191_ARG GLN ClinVar
chr9:35065252
rs121909334
Pathogenic/Likely pathogenic - 0.9555 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1|Frontotemporal dementia and/or amyotrophic lateral sclerosis 6|Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [MONDO:MONDO:0008178,MedGen:C4551951,OMIM:167320|MONDO:MONDO:0013501,MedGen:C5436279,OMIM:613954,Orphanet:275872,Orphanet:803|MONDO:MONDO:0013501,MedGen:C5436279,OMIM:613954,Orphanet:275872,Orphanet:803]; Inclusion body myopathy with Paget disease of bone and frontotemporal dementia|not provided|Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [MONDO:MONDO:0000507,MedGen:C1833662,OMIM:PS167320,Orphanet:52430|MedGen:C3661900|MONDO:MONDO:0013501,MedGen:C5436279,OMIM:613954,Orphanet:275872,Orphanet:803]; Charcot-Marie-Tooth disease type 2Y [MONDO:MONDO:0014735,MedGen:C5569026,OMIM:616687,Orphanet:435387]; Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 [MONDO:MONDO:0008178,MedGen:C4551951,OMIM:167320]
191_ARG PRO ClinVar
chr9:35065252
rs121909334
Pathogenic/Likely pathogenic - 0.997 Frontotemporal dementia and/or amyotrophic lateral sclerosis 6|Inclusion body myopathy with Paget disease of bone and frontotemporal dementia [MONDO:MONDO:0013501,MedGen:C5436279,OMIM:613954,Orphanet:275872,Orphanet:803|MONDO:MONDO:0000507,MedGen:C1833662,OMIM:PS167320,Orphanet:52430]; Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [MONDO:MONDO:0013501,MedGen:C5436279,OMIM:613954,Orphanet:275872,Orphanet:803]
198_LEU TRP VAR_076468
rs748447593
LP/P - 0.7914 Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 (IBMPFD1) [MIM:167320]
222_LEU GLN 8.3kJPN
chr9:35064194
-
- 0.0001 0.9992 -
232_ALA GLU VAR_033022
rs121909331
LP/P - 0.9731 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 - 0.9731 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1|not provided [MONDO:MONDO:0008178,MedGen:C4551951,OMIM:167320|MedGen:C3661900]
248_GLY ARG ClinVar
chr9:35063044
-
Likely pathogenic - 0.9999 VCP-Related Disorders [-]
251_LYS ASN ClinVar
chr9:35063033
-
Likely pathogenic - 0.9996 Childhood Onset VCP-related Neurodevelopmental Disorder [-]
254_ILE PHE VAR_088266
-
US - 0.8842 Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 (IBMPFD1) [MIM:167320]
256_ARG GLY ClinVar
chr9:35063020
-
Likely pathogenic - 0.9906 Childhood Onset VCP-related Neurodevelopmental Disorder|Charcot-Marie-Tooth disease type 2Y [|MONDO:MONDO:0014735,MedGen:C5569026,OMIM:616687,Orphanet:435387]; Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 [MONDO:MONDO:0008178,MedGen:C4551951,OMIM:167320]; Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [MONDO:MONDO:0013501,MedGen:C5436279,OMIM:613954,Orphanet:275872,Orphanet:803]
258_VAL ILE 8.3kJPN
chr9:35063014
-
- 0.0001 0.3405 -
264_ALA GLY 8.3kJPN
chr9:35062995
-
- 0.0001 0.9078 -
271_GLY ASP ClinVar
chr9:35062347
-
Likely pathogenic - 0.9998 not provided [MedGen:CN517202]
353_ILE THR 8.3kJPN
chr9:35062023
rs1276476611
- 0.0001 0.7839 -
362_ARG CYS ClinVar
chr9:35061684
-
Likely pathogenic - 0.9992 Childhood Onset VCP-related Neurodevelopmental Disorder [-]
369_ILE THR VAR_088267
rs1828723406
US - 0.9053 Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 (IBMPFD1) [MIM:167320]
387_ASN HIS VAR_078911
rs1554668420
US - 0.6632 Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 (IBMPFD1) [MIM:167320]
388_MET VAL 8.3kJPN
chr9:35061606
rs761895823
- 0.0001 0.8164 -
395_ASP GLY ClinVar
chr9:35061584
rs1828721782
Pathogenic - 0.8193 FRONTOTEMPORAL DEMENTIA WITHOUT AMYOTROPHIC LATERAL SCLEROSIS 6, WITH NEUROFIBRILLARY TANGLES [-]
401_ASN SER gnomAD
chr9:35061169
rs148329626
- 0.000346249 0.0547 -
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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.