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)		 Disease name
27_ILE VAL gnomAD
chr9:35068298 		rs140913250
- 0.000552697 -
48_GLU GLN 8.3kJPN
chr9:35068048 		-
- 0.0001 -
56_THR ALA ClinVar
chr9:35068024 		-
Likely pathogenic - not provided [MedGen:C3661900]
88_VAL ILE 8.3kJPN
chr9:35067928 		-
- 0.0001 -
91_ASN TYR ClinVar
chr9:35067919 		rs863225291
Pathogenic - 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 - 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 - 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 - 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 - Charcot-Marie-Tooth disease, axonal, 2Y (CMT2Y) [MIM:616687]
97_GLY GLU ClinVar
chr9:35067900 		rs864309502
Pathogenic - 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 - 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 - 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 - 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 - 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 -
155_ARG CYS VAR_033017 rs121909330
LP/P - 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 - Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (FTDALS6) [MIM:613954]
155_ARG PRO VAR_033019 rs121909329
LP/P - 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 - 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 - 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 - 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 - 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 - 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 - 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 - 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 - not provided [MedGen:C3661900]
157_GLY ARG ClinVar
chr9:35065355 		rs1554668814
Pathogenic - 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 - 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 - 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 - Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (FTDALS6) [MIM:613954]
159_ARG HIS ClinVar
chr9:35065348 		rs121909335
Pathogenic - 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 - 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 - 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 - Amyotrophic lateral sclerosis type 6 [MONDO:MONDO:0011951,MedGen:C2931786,OMIM:608030,Orphanet:275872,Orphanet:803]
160_ALA THR VAR_088265 -
US - 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 - Charcot-Marie-Tooth disease, axonal, 2Y (CMT2Y) [MIM:616687]
185_GLU LYS ClinVar
chr9:35065271 		rs864309501
Likely pathogenic - 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 - Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (FTDALS6) [MIM:613954]
191_ARG GLN ClinVar
chr9:35065252 		rs121909334
Pathogenic/Likely pathogenic - 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 - 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 - 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 -
232_ALA GLU VAR_033022 rs121909331
LP/P - 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 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 - VCP-Related Disorders [-]
251_LYS ASN ClinVar
chr9:35063033 		-
Likely pathogenic - Childhood Onset VCP-related Neurodevelopmental Disorder [-]
254_ILE PHE VAR_088266 -
US - 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 - 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 -
264_ALA GLY 8.3kJPN
chr9:35062995 		-
- 0.0001 -
271_GLY ASP ClinVar
chr9:35062347 		-
Likely pathogenic - not provided [MedGen:CN517202]
353_ILE THR 8.3kJPN
chr9:35062023 		rs1276476611
- 0.0001 -
362_ARG CYS ClinVar
chr9:35061684 		-
Likely pathogenic - Childhood Onset VCP-related Neurodevelopmental Disorder [-]
369_ILE THR VAR_088267 rs1828723406
US - Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 (IBMPFD1) [MIM:167320]
387_ASN HIS VAR_078911 rs1554668420
US - 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 -
395_ASP GLY ClinVar
chr9:35061584 		rs1828721782
Pathogenic - FRONTOTEMPORAL DEMENTIA WITHOUT AMYOTROPHIC LATERAL SCLEROSIS 6, WITH NEUROFIBRILLARY TANGLES [-]
401_ASN SER gnomAD
chr9:35061169 		rs148329626
- 0.000346249 -
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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.