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
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
Disease name
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 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 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]
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]
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 ClinVar
chr9:35065271
rs864309501 Pathogenic Charcot-Marie-Tooth disease, axonal, type 2y [MedGen:C4225244,OMIM:616687,Orphanet:ORPHA435387]
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]
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]