Reviewed,
UniProtKB/Swiss-Prot P04080 (CYTB_HUMAN)
Last modified
June 16, 2009.
Version 119.
History...
Clusters with 100%,
90%,
50% identity |
Documents (6) |
Third-party data |
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Names and origin
| Protein names | Recommended name: Cystatin-B Alternative name(s): Stefin-B Liver thiol proteinase inhibitor CPI-B | ||||
| Gene names |
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| Organism | Homo sapiens (Human) | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 98 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is not processed. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| Function | This is an intracellular thiol proteinase inhibitor. Tightly binding reversible inhibitor of cathepsins L, H and B. |
| Subunit structure | Able to form dimers stabilized by noncovalent forces. |
| Subcellular location | |
| Involvement in disease | Defects in CSTB are the cause of progressive myoclonic epilepsy type 1 (EPM1) [MIM:254800]. EPM1 is 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. Ref.9 |
| Sequence similarities | Belongs to the cystatin family. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Cytoplasm Nucleus |
| Disease | Disease mutation Epilepsy |
| Molecular function | Protease inhibitor Thiol protease inhibitor |
| PTM | Acetylation |
| Technical term | 3D-structure Direct protein sequencing |
| Gene Ontology (GO) | |
| Biological process | negative regulation of peptidase activity Inferred from direct assay. Source: UniProtKB |
| Cellular component | cytoplasm Inferred from electronic annotation. Source: UniProtKB-SubCell nucleusInferred from electronic annotation. Source: UniProtKB-SubCell |
| Molecular function | cysteine-type endopeptidase inhibitor activity Inferred from direct assay. Source: UniProtKB protease bindingInferred from physical interaction. Source: UniProtKB |
| Complete GO annotation... | |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||||||||||
Molecule processing | |||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 98 | 98 | Cystatin-B | PRO_0000207136 | |||||||||||||
Regions | |||||||||||||||||
| Motif | 46 – 50 | 5 | Secondary area of contact | ||||||||||||||
Sites | |||||||||||||||||
| Site | 4 | 1 | Reactive site | ||||||||||||||
Amino acid modifications | |||||||||||||||||
| Modified residue | 1 | 1 | N-acetylmethionine Probable | ||||||||||||||
Natural variations | |||||||||||||||||
| Natural variant | 4 | 1 | G → R in EPM1. Ref.9 | VAR_002206 | |||||||||||||
Experimental info | |||||||||||||||||
| Sequence conflict | 31 | 1 | E → Y AA sequence Ref.1 | ||||||||||||||
Secondary structure | |||||||||||||||||
Helix Strand Turn | |||||||||||||||||
| Helix | 14 – 31 | 18 | |||||||||||||||
| Beta strand | 39 – 58 | 20 | |||||||||||||||
| Beta strand | 64 – 74 | 11 | |||||||||||||||
| Beta strand | 80 – 89 | 10 | |||||||||||||||
Sequences
References
| « Hide 'large scale' references | |
| [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: 3902020] [Abstract] Cited for: PROTEIN SEQUENCE. |
| [2] | "Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1)." Pennacchio L.A., Lehesjoki A.-E., Stone N.E., Willour V.L., Virteneva K., Miao J., D'Amato E., Ramirez L., Faham J., Koskiniemi M., Warringtion J.A., Norio R., la Chapelle A., Cox D.R., Myers R.M. Science 271:1731-1734(1996) [PubMed: 8596935] [Abstract] 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. Yaspo M.-L.Nature 405:311-319(2000) [PubMed: 10830953] [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: 15489334] [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: 11139332] [Abstract] Cited for: SUBCELLULAR LOCATION. |
| [7] | Colinge J., Superti-Furga G., Bennett K.L. Submitted (OCT-2008) to UniProtKB Cited for: IDENTIFICATION [LARGE SCALE ANALYSIS], MASS SPECTROMETRY. |
| [8] | "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: 2347312] [Abstract] Cited for: X-RAY CRYSTALLOGRAPHY (2.4 ANGSTROMS). |
| [9] | "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: 9012407] [Abstract] Cited for: VARIANT EPM1 ARG-4. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 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. | |||||||||||||||||||
| IPI | IPI00021828. | ||||||||||||||||||
| PIR | UDHUB. A01278. | ||||||||||||||||||
| RefSeq | NP_000091.1. | ||||||||||||||||||
| UniGene | Hs.695 | ||||||||||||||||||
3D structure databases | |||||||||||||||||||
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| ModBase | Search... | ||||||||||||||||||
Protein-protein interaction databases | |||||||||||||||||||
| IntAct | P04080. 6 interactions. | ||||||||||||||||||
Protein family/group databases | |||||||||||||||||||
| MEROPS | I25.003. | ||||||||||||||||||
PTM databases | |||||||||||||||||||
| PhosphoSite | P04080. | ||||||||||||||||||
Proteomic databases | |||||||||||||||||||
| PeptideAtlas | P04080. | ||||||||||||||||||
| PRIDE | P04080. | ||||||||||||||||||
Genome annotation databases | |||||||||||||||||||
| Ensembl | ENSG00000160213. Homo sapiens. [Contig view] | ||||||||||||||||||
| GeneID | 1476. | ||||||||||||||||||
| KEGG | hsa:1476. | ||||||||||||||||||
Organism-specific databases | |||||||||||||||||||
| GeneCards | GC21M044018. | ||||||||||||||||||
| H-InvDB | HIX0016156. | ||||||||||||||||||
| HGNC | HGNC:2482. CSTB. | ||||||||||||||||||
| HPA | CAB000470. HPA017380. | ||||||||||||||||||
| MIM | 254800. phenotype. 601145. gene. | ||||||||||||||||||
| Orphanet | 308. Unverricht-Lundborg disease. | ||||||||||||||||||
| PharmGKB | PA26984. | ||||||||||||||||||
| GenAtlas | Search... | ||||||||||||||||||
Phylogenomic databases | |||||||||||||||||||
| HOGENOM | P04080. | ||||||||||||||||||
| HOVERGEN | P04080. | ||||||||||||||||||
| OMA | P04080. KAVEFKS. | ||||||||||||||||||
Gene expression databases | |||||||||||||||||||
| ArrayExpress | P04080. | ||||||||||||||||||
| Bgee | P04080. | ||||||||||||||||||
| CleanEx | HS_CST6. HS_CSTB. | ||||||||||||||||||
| GermOnline | ENSG00000160213. Homo sapiens. | ||||||||||||||||||
Family and domain databases | |||||||||||||||||||
| InterPro | IPR000010. Prot_inh_cystat. IPR018073. Prot_inh_cystat_CS. IPR001713. Prot_inh_stefinA. [Graphical view] | ||||||||||||||||||
| Pfam | PF00031. Cystatin. 1 hit. [Graphical view] | ||||||||||||||||||
| PRINTS | PR00295. STEFINA. | ||||||||||||||||||
| SMART | SM00043. CY. 1 hit. [Graphical view] | ||||||||||||||||||
| PROSITE | PS00287. CYSTATIN. 1 hit. [Graphical view] | ||||||||||||||||||
| ProtoNet | Search... | ||||||||||||||||||
Other Resources | |||||||||||||||||||
| NextBio | 6061. | ||||||||||||||||||
| SOURCE | Search... | ||||||||||||||||||
Entry information
| Entry name | CYTB_HUMAN | ||||||||
| Accession | Primary (citable) accession number: P04080 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
Relevant documents
| Human chromosome 21 Human chromosome 21: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| PDB cross-references Index of Protein Data Bank (PDB) cross-references |
| SIMILARITY comments Index of protein domains and families |

Clusters with


