Official symbol | CSTB |
Gene id | 1476 |
Organism | Homo sapiens |
Official full symbol | cystatin B |
Gene type | protein-coding |
Also known as | CPI-B, CST6, EPM1, EPM1A, PME, STFB, ULD |
Summary | The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and kininogens. This gene encodes a stefin that functions as an intracellular thiol protease inhibitor. The protein is able to form a dimer stabilized by noncovalent forces, inhibiting papain and cathepsins l, h and b. The protein is thought to play a role in protecting against the proteases leaking from lysosomes. Evidence indicates that mutations in this gene are responsible for the primary defects in patients with progressive myoclonic epilepsy (EPM1). One type of mutation responsible for EPM1 is the expansion in the promoter region of this gene of a CCCCGCCCCGCG repeat from 2-3 copies to 30-78 copies. |
Genomic regions | Chromosome 21 |
Name | Transcript ID | bp | Protein | Biotype | CCDS | UniProt Match | RefSeq Match | Flags |
CSTB-201 | ENST00000291568.7 | 588 | 98aa | Protein coding | CCDS13701 | P04080 Q76LA1 | NM_000100.4 | TSL:1, GENCODE basic, APPRIS P1, MANE Select v0.92, |
CSTB-204 | ENST00000640406.1 | 2354 | 83aa | Protein coding | - | A0A1W2PS52 | - | TSL:2, GENCODE basic, |
CSTB-203 | ENST00000639959.1 | 1855 | 54aa | Protein coding | - | A0A1W2PQG6 | - | CDS 5' incomplete, TSL:5, |
CSTB-205 | ENST00000675996.1 | 1258 | No protein | Processed transcript | - | - | - | - |
CSTB-202 | ENST00000480147.3 | 3744 | No protein | Retained intron | - | - | - | TSL:NA, |
Target Gene | CSTB |
This KO Strategy | loading |
Red Cotton™ Notes | Gene CSTB had been KO in hek293t cell line. |
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