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Protein

Cystatin-B

Gene

CSTB

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

Functioni

This is an intracellular thiol proteinase inhibitor. Tightly binding reversible inhibitor of cathepsins L, H and B.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei4Reactive site1

GO - Molecular functioni

  • cysteine-type endopeptidase inhibitor activity Source: UniProtKB
  • endopeptidase inhibitor activity Source: ProtInc
  • protease binding Source: BHF-UCL
  • RNA binding Source: UniProtKB

GO - Biological processi

  • adult locomotory behavior Source: Ensembl
  • negative regulation of peptidase activity Source: BHF-UCL
  • negative regulation of proteolysis Source: UniProtKB
  • neutrophil degranulation Source: Reactome

Keywordsi

Molecular functionProtease inhibitor, Thiol protease inhibitor

Enzyme and pathway databases

ReactomeiR-HSA-6798695. Neutrophil degranulation.

Protein family/group databases

MEROPSiI25.003.
TCDBi1.C.91.1.1. the stefin b pore-forming protein (stefin b) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Cystatin-B
Alternative name(s):
CPI-B
Liver thiol proteinase inhibitor
Stefin-B
Gene namesi
Name:CSTB
Synonyms:CST6, STFB
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 21

Organism-specific databases

HGNCiHGNC:2482. CSTB.

Subcellular locationi

GO - Cellular componenti

  • cytoplasm Source: UniProtKB
  • cytosol Source: HPA
  • extracellular exosome Source: UniProtKB
  • extracellular region Source: Reactome
  • extracellular space Source: UniProtKB
  • ficolin-1-rich granule lumen Source: Reactome
  • nucleolus Source: HPA
  • secretory granule lumen Source: Reactome
  • tertiary granule lumen Source: Reactome

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Involvement in diseasei

Epilepsy, progressive myoclonic 1 (EPM1)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder characterized by severe, stimulus-sensitive myoclonus and tonic-clonic seizures. The onset, occurring between 6 and 13 years of age, is characterized by convulsions. Myoclonus begins 1 to 5 years later. The twitchings occur predominantly in the proximal muscles of the extremities and are bilaterally symmetrical, although asynchronous. At first small, they become late in the clinical course so violent that the victim is thrown to the floor. Mental deterioration and eventually dementia develop.
See also OMIM:254800
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0022064G → R in EPM1. 1 PublicationCorresponds to variant dbSNP:rs74315443Ensembl.1

Keywords - Diseasei

Disease mutation, Epilepsy

Organism-specific databases

DisGeNETi1476.
GeneReviewsiCSTB.
MalaCardsiCSTB.
MIMi254800. phenotype.
OpenTargetsiENSG00000160213.
Orphaneti308. Unverricht-Lundborg disease.
PharmGKBiPA26984.

Polymorphism and mutation databases

BioMutaiCSTB.
DMDMi1706278.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002071361 – 98Cystatin-BAdd BLAST98

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1N-acetylmethionineCombined sources1

Keywords - PTMi

Acetylation

Proteomic databases

EPDiP04080.
PaxDbiP04080.
PeptideAtlasiP04080.
PRIDEiP04080.
TopDownProteomicsiP04080.

PTM databases

iPTMnetiP04080.
PhosphoSitePlusiP04080.
SwissPalmiP04080.

Expressioni

Gene expression databases

BgeeiENSG00000160213.
CleanExiHS_CST6.
HS_CSTB.
ExpressionAtlasiP04080. baseline and differential.
GenevisibleiP04080. HS.

Organism-specific databases

HPAiCAB047320.
HPA017380.
HPA058557.

Interactioni

Subunit structurei

Able to form dimers stabilized by noncovalent forces.

GO - Molecular functioni

  • protease binding Source: BHF-UCL

Protein-protein interaction databases

BioGridi107858. 24 interactors.
IntActiP04080. 8 interactors.
MINTiMINT-1504629.
STRINGi9606.ENSP00000291568.

Structurei

Secondary structure

198
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi14 – 31Combined sources18
Beta strandi39 – 58Combined sources20
Beta strandi60 – 62Combined sources3
Beta strandi64 – 74Combined sources11
Beta strandi80 – 89Combined sources10

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1STFX-ray2.37I1-98[»]
2OCTX-ray1.40A/B1-98[»]
4N6VX-ray1.800/1/2/3/4/5/6/7/8/98-98[»]
ProteinModelPortaliP04080.
SMRiP04080.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP04080.

Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi46 – 50Secondary area of contact5

Sequence similaritiesi

Belongs to the cystatin family.Curated

Phylogenomic databases

eggNOGiENOG410IZK7. Eukaryota.
ENOG41121QW. LUCA.
GeneTreeiENSGT00390000015607.
HOGENOMiHOG000294175.
HOVERGENiHBG002292.
InParanoidiP04080.
KOiK13907.
OMAiSLPHEDK.
OrthoDBiEOG091G12NK.
PhylomeDBiP04080.
TreeFamiTF333174.

Family and domain databases

CDDicd00042. CY. 1 hit.
InterProiView protein in InterPro
IPR000010. Cystatin_dom.
IPR018073. Prot_inh_cystat_CS.
IPR001713. Prot_inh_stefinA.
PfamiView protein in Pfam
PF00031. Cystatin. 1 hit.
PRINTSiPR00295. STEFINA.
SMARTiView protein in SMART
SM00043. CY. 1 hit.
PROSITEiView protein in PROSITE
PS00287. CYSTATIN. 1 hit.

Sequencei

Sequence statusi: Complete.

P04080-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MMCGAPSATQ PATAETQHIA DQVRSQLEEK ENKKFPVFKA VSFKSQVVAG
60 70 80 90
TNYFIKVHVG DEDFVHLRVF QSLPHENKPL TLSNYQTNKA KHDELTYF
Length:98
Mass (Da):11,140
Last modified:October 1, 1996 - v2
Checksum:iB8076220E19D0483
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti31E → Y AA sequence (PubMed:3902020).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0022064G → R in EPM1. 1 PublicationCorresponds to variant dbSNP:rs74315443Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U46692 Genomic DNA. Translation: AAA99014.1.
L03558 mRNA. Translation: AAA35727.1.
AF208234 Genomic DNA. Translation: AAF44059.1.
AP001752 Genomic DNA. Translation: BAA95541.1.
BC003370 mRNA. Translation: AAH03370.1.
BC010532 mRNA. Translation: AAH10532.1.
CCDSiCCDS13701.1.
PIRiA01278. UDHUB.
RefSeqiNP_000091.1. NM_000100.3.
UniGeneiHs.695.

Genome annotation databases

EnsembliENST00000291568; ENSP00000291568; ENSG00000160213.
GeneIDi1476.
KEGGihsa:1476.

Similar proteinsi

Entry informationi

Entry nameiCYTB_HUMAN
AccessioniPrimary (citable) accession number: P04080
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1986
Last sequence update: October 1, 1996
Last modified: August 30, 2017
This is version 196 of the entry and version 2 of the sequence. See 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

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 21
    Human chromosome 21: 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families