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Protein

Caseinolytic peptidase B protein homolog

Gene

CLPB

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

May function as a regulatory ATPase and be related to secretion/protein trafficking process.

Catalytic activityi

ATP + H2O = ADP + phosphate.1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi381 – 388ATPSequence analysis8

GO - Molecular functioni

GO - Biological processi

  • cellular response to heat Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Hydrolase

Keywords - Ligandi

ATP-binding, Nucleotide-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000162129-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Caseinolytic peptidase B protein homolog (EC:3.6.1.31 Publication)
Alternative name(s):
Suppressor of potassium transport defect 3
Gene namesi
Name:CLPB
Synonyms:HSP78, SKD3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

HGNCiHGNC:30664. CLPB.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Involvement in diseasei

3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia (MEGCANN)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive inborn error of metabolism with a highly variable phenotype. Primary disease symptoms are increased levels of 3-methylglutaconic acid, neurologic deterioration and neutropenia. Other common features include progressive encephalopathy, movement abnormalities, delayed psychomotor development, cataracts, seizures, and recurrent infections.
See also OMIM:616271
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_073397268T → M in MEGCANN. 1 PublicationCorresponds to variant rs200032855dbSNPEnsembl.1
Natural variantiVAR_073398272Y → C in MEGCANN. 1 PublicationCorresponds to variant rs777313457dbSNPEnsembl.1
Natural variantiVAR_073399408R → G in MEGCANN; reduced ATPase activity in vitro. 1 PublicationCorresponds to variant rs144078282dbSNPEnsembl.1
Natural variantiVAR_073400411M → I in MEGCANN. 1 PublicationCorresponds to variant rs786205137dbSNPEnsembl.1
Natural variantiVAR_073401435 – 436EG → DP in MEGCANN. 1 Publication2
Natural variantiVAR_073402486C → R in MEGCANN. 1 Publication1
Natural variantiVAR_073403501E → K in MEGCANN. 1 PublicationCorresponds to variant rs748915609dbSNPEnsembl.1
Natural variantiVAR_073404567Y → C in MEGCANN. 1 PublicationCorresponds to variant rs150857620dbSNPEnsembl.1
Natural variantiVAR_073405591A → V in MEGCANN. 1 PublicationCorresponds to variant rs748010262dbSNPEnsembl.1
Natural variantiVAR_073406617Y → C in MEGCANN. 1 PublicationCorresponds to variant rs786205138dbSNPEnsembl.1
Natural variantiVAR_073407646G → V in MEGCANN. 1 PublicationCorresponds to variant rs759500860dbSNPEnsembl.1
Natural variantiVAR_073408682I → N in MEGCANN. 1 Publication1

Keywords - Diseasei

Cataract, Disease mutation, Epilepsy

Organism-specific databases

DisGeNETi81570.
MIMi616271. phenotype.
OpenTargetsiENSG00000162129.
PharmGKBiPA142672092.

Polymorphism and mutation databases

BioMutaiCLPB.
DMDMi25009267.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transit peptidei1 – 36MitochondrionSequence analysisAdd BLAST36
ChainiPRO_000019123937 – 707Caseinolytic peptidase B protein homologAdd BLAST671

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei589N6-acetyllysineCombined sources1

Keywords - PTMi

Acetylation

Proteomic databases

EPDiQ9H078.
MaxQBiQ9H078.
PaxDbiQ9H078.
PeptideAtlasiQ9H078.
PRIDEiQ9H078.

PTM databases

iPTMnetiQ9H078.
PhosphoSitePlusiQ9H078.
SwissPalmiQ9H078.

Expressioni

Tissue specificityi

Widely expressed (at protein level) (PubMed:25597511). Expressed in fetal, as well as in adult tissues, with highest levels in adult brain, including thalamus, hippocampus, occipital cortex and parietal cortex. Low expression in granulocytes (PubMed:25597510).2 Publications

Gene expression databases

BgeeiENSG00000162129.
CleanExiHS_CLPB.
ExpressionAtlasiQ9H078. baseline and differential.
GenevisibleiQ9H078. HS.

Organism-specific databases

HPAiHPA039005.
HPA039006.
HPA064571.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
CEP70Q8NHQ13EBI-2107221,EBI-739624

Protein-protein interaction databases

BioGridi123531. 51 interactors.
IntActiQ9H078. 20 interactors.
MINTiMINT-1196059.
STRINGi9606.ENSP00000294053.

Structurei

3D structure databases

ProteinModelPortaliQ9H078.
SMRiQ9H078.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati133 – 162ANK 1Add BLAST30
Repeati166 – 195ANK 2Add BLAST30
Repeati265 – 295ANK 3Add BLAST31
Repeati298 – 327ANK 4Add BLAST30

Sequence similaritiesi

Belongs to the ClpA/ClpB family.Curated
Contains 4 ANK repeats.PROSITE-ProRule annotation

Keywords - Domaini

ANK repeat, Repeat, Transit peptide

Phylogenomic databases

eggNOGiKOG1051. Eukaryota.
COG0542. LUCA.
GeneTreeiENSGT00390000012961.
HOGENOMiHOG000006543.
HOVERGENiHBG025978.
InParanoidiQ9H078.
KOiK03695.
PhylomeDBiQ9H078.
TreeFamiTF328654.

Family and domain databases

Gene3Di1.25.40.20. 2 hits.
3.40.50.300. 2 hits.
InterProiIPR003593. AAA+_ATPase.
IPR002110. Ankyrin_rpt.
IPR020683. Ankyrin_rpt-contain_dom.
IPR003959. ATPase_AAA_core.
IPR019489. Clp_ATPase_C.
IPR001270. ClpA/B.
IPR027417. P-loop_NTPase.
[Graphical view]
PfamiPF07724. AAA_2. 1 hit.
PF12796. Ank_2. 2 hits.
PF10431. ClpB_D2-small. 1 hit.
[Graphical view]
PRINTSiPR00300. CLPPROTEASEA.
SMARTiSM00382. AAA. 1 hit.
SM00248. ANK. 3 hits.
SM01086. ClpB_D2-small. 1 hit.
[Graphical view]
SUPFAMiSSF48403. SSF48403. 2 hits.
SSF52540. SSF52540. 2 hits.
PROSITEiPS50297. ANK_REP_REGION. 1 hit.
PS50088. ANK_REPEAT. 3 hits.
[Graphical view]

Sequences (5)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 5 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9H078-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MLGSLVLRRK ALAPRLLLRL LRSPTLRGHG GASGRNVTTG SLGEPQWLRV
60 70 80 90 100
ATGGRPGTSP ALFSGRGAAT GGRQGGRFDT KCLAAATWGR LPGPEETLPG
110 120 130 140 150
QDSWNGVPSR AGLGMCALAA ALVVHCYSKS PSNKDAALLE AARANNMQEV
160 170 180 190 200
SRLLSEGADV NAKHRLGWTA LMVAAINRNN SVVQVLLAAG ADPNLGDDFS
210 220 230 240 250
SVYKTAKEQG IHSLEDGGQD GASRHITNQW TSALEFRRWL GLPAGVLITR
260 270 280 290 300
EDDFNNRLNN RASFKGCTAL HYAVLADDYR TVKELLDGGA NPLQRNEMGH
310 320 330 340 350
TPLDYAREGE VMKLLRTSEA KYQEKQRKRE AEERRRFPLE QRLKEHIIGQ
360 370 380 390 400
ESAIATVGAA IRRKENGWYD EEHPLVFLFL GSSGIGKTEL AKQTAKYMHK
410 420 430 440 450
DAKKGFIRLD MSEFQERHEV AKFIGSPPGY VGHEEGGQLT KKLKQCPNAV
460 470 480 490 500
VLFDEVDKAH PDVLTIMLQL FDEGRLTDGK GKTIDCKDAI FIMTSNVASD
510 520 530 540 550
EIAQHALQLR QEALEMSRNR IAENLGDVQI SDKITISKNF KENVIRPILK
560 570 580 590 600
AHFRRDEFLG RINEIVYFLP FCHSELIQLV NKELNFWAKR AKQRHNITLL
610 620 630 640 650
WDREVADVLV DGYNVHYGAR SIKHEVERRV VNQLAAAYEQ DLLPGGCTLR
660 670 680 690 700
ITVEDSDKQL LKSPELPSPQ AEKRLPKLRL EIIDKDSKTR RLDIRAPLHP

EKVCNTI
Length:707
Mass (Da):78,729
Last modified:March 1, 2001 - v1
Checksum:i0E0F2A244CA20635
GO
Isoform 2 (identifier: Q9H078-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     216-245: Missing.

Note: No experimental confirmation available.
Show »
Length:677
Mass (Da):75,449
Checksum:iC03F18C94337B9E4
GO
Isoform 3 (identifier: Q9H078-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     152-180: Missing.
     216-245: Missing.

Note: No experimental confirmation available.
Show »
Length:648
Mass (Da):72,276
Checksum:i586F3100E877B4D4
GO
Isoform 4 (identifier: Q9H078-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-151: MLGSLVLRRK...ARANNMQEVS → MPRGCHLGTP...TKISSSEWPL

Note: No experimental confirmation available.
Show »
Length:662
Mass (Da):74,543
Checksum:iF9DE15704672A495
GO
Isoform 5 (identifier: Q9H078-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-171: Missing.
     216-245: Missing.

Note: No experimental confirmation available.
Show »
Length:506
Mass (Da):57,664
Checksum:i55E4A602D8B4F44A
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti413E → K in BAG63459 (PubMed:14702039).Curated1
Sequence conflicti563N → S in BAG63409 (PubMed:14702039).Curated1
Sequence conflicti650R → C in BAG63459 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_073397268T → M in MEGCANN. 1 PublicationCorresponds to variant rs200032855dbSNPEnsembl.1
Natural variantiVAR_073398272Y → C in MEGCANN. 1 PublicationCorresponds to variant rs777313457dbSNPEnsembl.1
Natural variantiVAR_048740295R → T.Corresponds to variant rs7938203dbSNPEnsembl.1
Natural variantiVAR_073399408R → G in MEGCANN; reduced ATPase activity in vitro. 1 PublicationCorresponds to variant rs144078282dbSNPEnsembl.1
Natural variantiVAR_073400411M → I in MEGCANN. 1 PublicationCorresponds to variant rs786205137dbSNPEnsembl.1
Natural variantiVAR_073401435 – 436EG → DP in MEGCANN. 1 Publication2
Natural variantiVAR_073402486C → R in MEGCANN. 1 Publication1
Natural variantiVAR_073403501E → K in MEGCANN. 1 PublicationCorresponds to variant rs748915609dbSNPEnsembl.1
Natural variantiVAR_073404567Y → C in MEGCANN. 1 PublicationCorresponds to variant rs150857620dbSNPEnsembl.1
Natural variantiVAR_073405591A → V in MEGCANN. 1 PublicationCorresponds to variant rs748010262dbSNPEnsembl.1
Natural variantiVAR_073406617Y → C in MEGCANN. 1 PublicationCorresponds to variant rs786205138dbSNPEnsembl.1
Natural variantiVAR_073407646G → V in MEGCANN. 1 PublicationCorresponds to variant rs759500860dbSNPEnsembl.1
Natural variantiVAR_073408682I → N in MEGCANN. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0573971 – 171Missing in isoform 5. 1 PublicationAdd BLAST171
Alternative sequenceiVSP_0447251 – 151MLGSL…MQEVS → MPRGCHLGTPSWSRRNTPRT GQLERGPQQGRTGHVRPGRS AGGSLLQQESVQQGCSPVGS CPCQQYARSQQPQETAKNDA QSRSWAGLNAGVSLKNTKIS SSEWPL in isoform 4. 1 PublicationAdd BLAST151
Alternative sequenceiVSP_044726152 – 180Missing in isoform 3. 1 PublicationAdd BLAST29
Alternative sequenceiVSP_001106216 – 245Missing in isoform 2, isoform 3 and isoform 5. 1 PublicationAdd BLAST30

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL136909 mRNA. Translation: CAB66843.1.
AL834484 mRNA. Translation: CAD39142.1.
AK023214 mRNA. Translation: BAB14467.1.
AK302006 mRNA. Translation: BAG63409.1.
AK302069 mRNA. Translation: BAG63459.1.
AK302158 mRNA. Translation: BAG63526.1.
AP000593 Genomic DNA. No translation available.
AP002892 Genomic DNA. No translation available.
AP003785 Genomic DNA. No translation available.
BC006404 mRNA. Translation: AAH06404.1.
CCDSiCCDS58152.1. [Q9H078-4]
CCDS58153.1. [Q9H078-3]
CCDS58154.1. [Q9H078-2]
CCDS8215.1. [Q9H078-1]
RefSeqiNP_001245321.1. NM_001258392.2. [Q9H078-2]
NP_001245322.1. NM_001258393.2. [Q9H078-3]
NP_001245323.1. NM_001258394.2. [Q9H078-4]
NP_110440.1. NM_030813.5. [Q9H078-1]
UniGeneiHs.523877.

Genome annotation databases

EnsembliENST00000294053; ENSP00000294053; ENSG00000162129. [Q9H078-1]
ENST00000340729; ENSP00000340385; ENSG00000162129. [Q9H078-3]
ENST00000437826; ENSP00000407296; ENSG00000162129. [Q9H078-4]
ENST00000538039; ENSP00000441518; ENSG00000162129. [Q9H078-2]
ENST00000543042; ENSP00000439746; ENSG00000162129. [Q9H078-5]
GeneIDi81570.
KEGGihsa:81570.
UCSCiuc001osj.5. human. [Q9H078-1]
uc010rqz.3. human.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL136909 mRNA. Translation: CAB66843.1.
AL834484 mRNA. Translation: CAD39142.1.
AK023214 mRNA. Translation: BAB14467.1.
AK302006 mRNA. Translation: BAG63409.1.
AK302069 mRNA. Translation: BAG63459.1.
AK302158 mRNA. Translation: BAG63526.1.
AP000593 Genomic DNA. No translation available.
AP002892 Genomic DNA. No translation available.
AP003785 Genomic DNA. No translation available.
BC006404 mRNA. Translation: AAH06404.1.
CCDSiCCDS58152.1. [Q9H078-4]
CCDS58153.1. [Q9H078-3]
CCDS58154.1. [Q9H078-2]
CCDS8215.1. [Q9H078-1]
RefSeqiNP_001245321.1. NM_001258392.2. [Q9H078-2]
NP_001245322.1. NM_001258393.2. [Q9H078-3]
NP_001245323.1. NM_001258394.2. [Q9H078-4]
NP_110440.1. NM_030813.5. [Q9H078-1]
UniGeneiHs.523877.

3D structure databases

ProteinModelPortaliQ9H078.
SMRiQ9H078.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi123531. 51 interactors.
IntActiQ9H078. 20 interactors.
MINTiMINT-1196059.
STRINGi9606.ENSP00000294053.

PTM databases

iPTMnetiQ9H078.
PhosphoSitePlusiQ9H078.
SwissPalmiQ9H078.

Polymorphism and mutation databases

BioMutaiCLPB.
DMDMi25009267.

Proteomic databases

EPDiQ9H078.
MaxQBiQ9H078.
PaxDbiQ9H078.
PeptideAtlasiQ9H078.
PRIDEiQ9H078.

Protocols and materials databases

DNASUi81570.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000294053; ENSP00000294053; ENSG00000162129. [Q9H078-1]
ENST00000340729; ENSP00000340385; ENSG00000162129. [Q9H078-3]
ENST00000437826; ENSP00000407296; ENSG00000162129. [Q9H078-4]
ENST00000538039; ENSP00000441518; ENSG00000162129. [Q9H078-2]
ENST00000543042; ENSP00000439746; ENSG00000162129. [Q9H078-5]
GeneIDi81570.
KEGGihsa:81570.
UCSCiuc001osj.5. human. [Q9H078-1]
uc010rqz.3. human.

Organism-specific databases

CTDi81570.
DisGeNETi81570.
GeneCardsiCLPB.
HGNCiHGNC:30664. CLPB.
HPAiHPA039005.
HPA039006.
HPA064571.
MIMi616254. gene.
616271. phenotype.
neXtProtiNX_Q9H078.
OpenTargetsiENSG00000162129.
PharmGKBiPA142672092.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1051. Eukaryota.
COG0542. LUCA.
GeneTreeiENSGT00390000012961.
HOGENOMiHOG000006543.
HOVERGENiHBG025978.
InParanoidiQ9H078.
KOiK03695.
PhylomeDBiQ9H078.
TreeFamiTF328654.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000162129-MONOMER.

Miscellaneous databases

ChiTaRSiCLPB. human.
GeneWikiiCLPB.
GenomeRNAii81570.
PROiQ9H078.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000162129.
CleanExiHS_CLPB.
ExpressionAtlasiQ9H078. baseline and differential.
GenevisibleiQ9H078. HS.

Family and domain databases

Gene3Di1.25.40.20. 2 hits.
3.40.50.300. 2 hits.
InterProiIPR003593. AAA+_ATPase.
IPR002110. Ankyrin_rpt.
IPR020683. Ankyrin_rpt-contain_dom.
IPR003959. ATPase_AAA_core.
IPR019489. Clp_ATPase_C.
IPR001270. ClpA/B.
IPR027417. P-loop_NTPase.
[Graphical view]
PfamiPF07724. AAA_2. 1 hit.
PF12796. Ank_2. 2 hits.
PF10431. ClpB_D2-small. 1 hit.
[Graphical view]
PRINTSiPR00300. CLPPROTEASEA.
SMARTiSM00382. AAA. 1 hit.
SM00248. ANK. 3 hits.
SM01086. ClpB_D2-small. 1 hit.
[Graphical view]
SUPFAMiSSF48403. SSF48403. 2 hits.
SSF52540. SSF52540. 2 hits.
PROSITEiPS50297. ANK_REP_REGION. 1 hit.
PS50088. ANK_REPEAT. 3 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiCLPB_HUMAN
AccessioniPrimary (citable) accession number: Q9H078
Secondary accession number(s): B4DXJ7
, B4DXP7, B4DXW4, E7EWN6, F8W7P6, Q8ND11, Q9H8Y0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 8, 2002
Last sequence update: March 1, 2001
Last modified: November 30, 2016
This is version 142 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.