Disprot - Database of Protein Disorder

Annotations for this protein have been verified by the authors of the corresponding papers

DP00511: CSTB protein

General information
DisProt:	DP00511
Name:	CSTB protein
Synonym(s):	Q76LA1_HUMAN Stefin B Cystatin B Cystatin B (Stefin B), isoform CRA_a cDNA, FLJ92415, Homo sapiens cystatin B (stefin B) (CSTB), mRNA Liver thiol proteinase inhibitor CPI-B
First appeared in release:	Release 3.3 (06/23/2006)
UniProt:	Q76LA1
UniGene:	Hs.695
SwissProt:	Q76LA1_HUMAN0
TrEMBL:
NCBI (GI):	74723188
Source organism:	Homo sapiens (Human)
Sequence length:	98
Percent disordered:	68%
Homologues:

Native sequence

10 20 30 40 50 60
| | | | | |
MMCGAPSATQ PATAETQHIA DQVRSQLEEK ENKKFPVFKA VSFKSQVVAG TNYFIKVHVG - 60
DEDFVHLRVF QSLPHENKPL TLSNYQTNKA KHDELTYF

Map of ordered and disordered regions
Note: 'Mouse' over a region to see the start and stop residues. Click on a region to see detailed information.

Region 1
Type:	Disordered
Name:	R68X mutant
Location:	1 - 67
Length:	67
Region sequence:	MMCGAPSATQPATAETQHIADQVRSQLEEKENKKFPVFKAVSFKSQVVAGTNYFIKVHVG DEDFVHL
Modification type:	Fragment Mutant
PDB:
Structural/functional type:	Function arises from the disordered state
Functional classes:	Molecular assembly
Functional subclasses:	Protein-protein binding
Detection methods: Circular dichroism (CD) spectroscopy, far-UV (298 K; pH: 7; sodium phosphate 10 mM) Circular dichroism (CD) spectroscopy, near-UV (298 K; pH: 7; sodium phosphate 10 mM)
References: Rabzelj, S., Turk, V., Zerovnik, E. "In vitro study of stability and amyloid-fibril formation of two mutants of human stefin B (cystatin B) occurring in patients with EPM1." Protein Sci. 2005; 14(10): 2713-22. PubMed: 16155205
Comments:

References
Pennacchio LA, Lehesjoki AE, Stone NE, Willour VL, Virtaneva K, Miao J, D'Amato E, Ramirez L, Faham M, Koskiniemi M, Warrington JA, Norio R, de la Chapelle A, Cox DR, Myers RM. "Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1)." Science. 1996; 271(5256): 1731-4. PubMed: 8596935 Riccio, M., Di Giaimo, R., Pianetti, S., Palmieri, P. P., Melli, M., Santi, S. "Nuclear localization of cystatin B, the cathepsin inhibitor implicated in myoclonus epilepsy (EPM1)." Exp Cell Res. 2001; 262(2): 84-94. PubMed: 11139332 Zerovnik, E., Pompe-Novak, M., Skarabot, M., Ravnikar, M., Musevic, I., Turk, V. "Human stefin B readily forms amyloid fibrils in vitro." Biochim Biophys Acta. 2002; 1594(1): 1-5. PubMed: 11825603

Pennacchio LA, Lehesjoki AE, Stone NE, Willour VL, Virtaneva K, Miao J, D'Amato E, Ramirez L, Faham M, Koskiniemi M, Warrington JA, Norio R, de la Chapelle A, Cox DR, Myers RM. "Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1)." Science. 1996; 271(5256): 1731-4. PubMed: 8596935
Riccio, M., Di Giaimo, R., Pianetti, S., Palmieri, P. P., Melli, M., Santi, S. "Nuclear localization of cystatin B, the cathepsin inhibitor implicated in myoclonus epilepsy (EPM1)." Exp Cell Res. 2001; 262(2): 84-94. PubMed: 11139332
Zerovnik, E., Pompe-Novak, M., Skarabot, M., Ravnikar, M., Musevic, I., Turk, V. "Human stefin B readily forms amyloid fibrils in vitro." Biochim Biophys Acta. 2002; 1594(1): 1-5. PubMed: 11825603