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P04080

- CYTB_HUMAN

UniProt

P04080 - CYTB_HUMAN

Protein

Cystatin-B

Gene

CSTB

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
  1. 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

    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: UniProt
    4. nucleolus Source: HPA

    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

    ArrayExpressiP04080.
    BgeeiP04080.
    CleanExiHS_CST6.
    HS_CSTB.
    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 1-98.
    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

    MMCGAPSATQ PATAETQHIA DQVRSQLEEK ENKKFPVFKA VSFKSQVVAG   50
    TNYFIKVHVG DEDFVHLRVF QSLPHENKPL TLSNYQTNKA KHDELTYF 98
    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 1-98.
    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

    ArrayExpressi P04080.
    Bgeei P04080.
    CleanExi HS_CST6.
    HS_CSTB.
    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

    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 1, 2014
    This is version 170 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