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P04080

- CYTB_HUMAN

UniProt

P04080 - CYTB_HUMAN

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Protein

Cystatin-B

Gene

CSTB

Organism
Homo sapiens (Human)
Status
Reviewed - 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)LengthDescriptionGraphical viewFeature identifierActions
Sitei4 – 41Reactive site

GO - Molecular functioni

  1. cysteine-type endopeptidase inhibitor activity Source: BHF-UCL
  2. endopeptidase inhibitor activity Source: ProtInc
  3. poly(A) RNA binding Source: UniProtKB
  4. protease binding Source: BHF-UCL

GO - Biological processi

  1. adult locomotory behavior Source: Ensembl
  2. negative regulation of endopeptidase activity Source: GOC
  3. negative regulation of peptidase activity Source: BHF-UCL
  4. negative regulation of proteolysis Source: UniProt
  5. regulation of apoptotic process Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

Protease inhibitor, Thiol protease inhibitor

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
ProteomesiUP000005640: Chromosome 21

Organism-specific databases

HGNCiHGNC:2482. CSTB.

Subcellular locationi

Cytoplasm 1 Publication. Nucleus 1 Publication

GO - Cellular componenti

  1. cytoplasm Source: HPA
  2. extracellular space Source: UniProt
  3. extracellular vesicular exosome Source: UniProtKB
  4. nucleolus Source: HPA
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Involvement in diseasei

Epilepsy, progressive myoclonic 1 (EPM1) [MIM:254800]: An 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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti4 – 41G → R in EPM1. 1 Publication
VAR_002206

Keywords - Diseasei

Disease mutation, Epilepsy

Organism-specific databases

MIMi254800. phenotype.
Orphaneti308. Unverricht-Lundborg disease.
PharmGKBiPA26984.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 9898Cystatin-BPRO_0000207136Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei1 – 11N-acetylmethionine2 Publications

Keywords - PTMi

Acetylation

Proteomic databases

MaxQBiP04080.
PaxDbiP04080.
PeptideAtlasiP04080.
PRIDEiP04080.

PTM databases

PhosphoSiteiP04080.

Expressioni

Gene expression databases

BgeeiP04080.
CleanExiHS_CST6.
HS_CSTB.
ExpressionAtlasiP04080. baseline and differential.
GenevestigatoriP04080.

Organism-specific databases

HPAiCAB047318.
CAB047320.
HPA017380.

Interactioni

Subunit structurei

Able to form dimers stabilized by noncovalent forces.

Protein-protein interaction databases

BioGridi107858. 18 interactions.
IntActiP04080. 7 interactions.
MINTiMINT-1504629.
STRINGi9606.ENSP00000291568.

Structurei

Secondary structure

1
98
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi14 – 3118
Beta strandi39 – 5820
Beta strandi60 – 623
Beta strandi64 – 7411
Beta strandi80 – 8910

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
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. Positions 8-98.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP04080.

Family & Domainsi

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi46 – 505Secondary area of contact

Sequence similaritiesi

Belongs to the cystatin family.Curated

Phylogenomic databases

eggNOGiNOG29074.
HOGENOMiHOG000294175.
HOVERGENiHBG002292.
InParanoidiP04080.
KOiK13907.
OMAiKHDELAY.
OrthoDBiEOG7FR7JX.
PhylomeDBiP04080.
TreeFamiTF333174.

Family and domain databases

InterProiIPR000010. Prot_inh_cystat.
IPR018073. Prot_inh_cystat_CS.
IPR001713. Prot_inh_stefinA.
[Graphical view]
PfamiPF00031. Cystatin. 1 hit.
[Graphical view]
PRINTSiPR00295. STEFINA.
SMARTiSM00043. CY. 1 hit.
[Graphical view]
PROSITEiPS00287. CYSTATIN. 1 hit.
[Graphical view]

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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti31 – 311E → Y AA sequence (PubMed:3902020)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti4 – 41G → R in EPM1. 1 Publication
VAR_002206

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.
UCSCiuc002zdr.4. human.

Polymorphism databases

DMDMi1706278.

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS13701.1.
PIRi A01278. UDHUB.
RefSeqi NP_000091.1. NM_000100.3.
UniGenei Hs.695.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
1STF X-ray 2.37 I 1-98 [» ]
2OCT X-ray 1.40 A/B 1-98 [» ]
4N6V X-ray 1.80 0/1/2/3/4/5/6/7/8/9 8-98 [» ]
ProteinModelPortali P04080.
SMRi P04080. Positions 8-98.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 107858. 18 interactions.
IntActi P04080. 7 interactions.
MINTi MINT-1504629.
STRINGi 9606.ENSP00000291568.

Protein family/group databases

MEROPSi I25.003.
TCDBi 1.C.91.1.1. the stefin b pore-forming protein (stefin b) family.

PTM databases

PhosphoSitei P04080.

Polymorphism databases

DMDMi 1706278.

Proteomic databases

MaxQBi P04080.
PaxDbi P04080.
PeptideAtlasi P04080.
PRIDEi P04080.

Protocols and materials databases

DNASUi 1476.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000291568 ; ENSP00000291568 ; ENSG00000160213 .
GeneIDi 1476.
KEGGi hsa:1476.
UCSCi uc002zdr.4. human.

Organism-specific databases

CTDi 1476.
GeneCardsi GC21M045192.
GeneReviewsi CSTB.
HGNCi HGNC:2482. CSTB.
HPAi CAB047318.
CAB047320.
HPA017380.
MIMi 254800. phenotype.
601145. gene.
neXtProti NX_P04080.
Orphaneti 308. Unverricht-Lundborg disease.
PharmGKBi PA26984.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG29074.
HOGENOMi HOG000294175.
HOVERGENi HBG002292.
InParanoidi P04080.
KOi K13907.
OMAi KHDELAY.
OrthoDBi EOG7FR7JX.
PhylomeDBi P04080.
TreeFami TF333174.

Miscellaneous databases

ChiTaRSi CSTB. human.
EvolutionaryTracei P04080.
GeneWikii Cystatin_B.
GenomeRNAii 1476.
NextBioi 6061.
PROi P04080.
SOURCEi Search...

Gene expression databases

Bgeei P04080.
CleanExi HS_CST6.
HS_CSTB.
ExpressionAtlasi P04080. baseline and differential.
Genevestigatori P04080.

Family and domain databases

InterProi IPR000010. Prot_inh_cystat.
IPR018073. Prot_inh_cystat_CS.
IPR001713. Prot_inh_stefinA.
[Graphical view ]
Pfami PF00031. Cystatin. 1 hit.
[Graphical view ]
PRINTSi PR00295. STEFINA.
SMARTi SM00043. CY. 1 hit.
[Graphical view ]
PROSITEi PS00287. CYSTATIN. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Amino acid sequence of the intracellular cysteine proteinase inhibitor cystatin B from human liver."
    Ritonja A., Machleidt W., Barrett A.J.
    Biochem. Biophys. Res. Commun. 131:1187-1192(1985) [PubMed] [Europe PMC] [Abstract]
    Cited for: PROTEIN SEQUENCE.
  2. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA].
  3. Bhat K.S.
    Submitted (MAY-1993) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  4. "The DNA sequence of human chromosome 21."
    Hattori M., Fujiyama A., Taylor T.D., Watanabe H., Yada T., Park H.-S., Toyoda A., Ishii K., Totoki Y., Choi D.-K., Groner Y., Soeda E., Ohki M., Takagi T., Sakaki Y., Taudien S., Blechschmidt K., Polley A.
    , Menzel U., Delabar J., Kumpf K., Lehmann R., Patterson D., Reichwald K., Rump A., Schillhabel M., Schudy A., Zimmermann W., Rosenthal A., Kudoh J., Shibuya K., Kawasaki K., Asakawa S., Shintani A., Sasaki T., Nagamine K., Mitsuyama S., Antonarakis S.E., Minoshima S., Shimizu N., Nordsiek G., Hornischer K., Brandt P., Scharfe M., Schoen O., Desario A., Reichelt J., Kauer G., Bloecker H., Ramser J., Beck A., Klages S., Hennig S., Riesselmann L., Dagand E., Wehrmeyer S., Borzym K., Gardiner K., Nizetic D., Francis F., Lehrach H., Reinhardt R., Yaspo M.-L.
    Nature 405:311-319(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Placenta.
  6. "Nuclear localization of cystatin B, the cathepsin inhibitor implicated in myoclonus epilepsy (EPM1)."
    Riccio M., Di Giaimo R., Pianetti S., Palmieri P.P., Melli M., Santi S.
    Exp. Cell Res. 262:84-94(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBCELLULAR LOCATION.
  7. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
    Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
    Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  8. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  9. "Comparative large-scale characterisation of plant vs. mammal proteins reveals similar and idiosyncratic N-alpha acetylation features."
    Bienvenut W.V., Sumpton D., Martinez A., Lilla S., Espagne C., Meinnel T., Giglione C.
    Mol. Cell. Proteomics 11:M111.015131-M111.015131(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  10. "The refined 2.4 A X-ray crystal structure of recombinant human stefin B in complex with the cysteine proteinase papain: a novel type of proteinase inhibitor interaction."
    Stubbs M.T., Laber B., Bode W., Huber R., Jerala R., Lenarcic B., Turk V.
    EMBO J. 9:1939-1947(1990) [PubMed] [Europe PMC] [Abstract]
    Cited for: X-RAY CRYSTALLOGRAPHY (2.4 ANGSTROMS).
  11. "Identification of mutations in cystatin B, the gene responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy (EPM1)."
    Lalioti M.D., Mirotsou M., Buresi C., Peitsch M.C., Rossier C., Ouazzani R., Baldy-Moulinier M., Bottani A., Malafosse A., Antonarakis S.E.
    Am. J. Hum. Genet. 60:342-351(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT EPM1 ARG-4.

Entry informationi

Entry nameiCYTB_HUMAN
AccessioniPrimary (citable) accession number: P04080
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1986
Last sequence update: October 1, 1996
Last modified: October 29, 2014
This is version 171 of the entry and version 2 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

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

External Data

Dasty 3