| Tag | Content |
|---|---|
| Uniprot ID | Q5VVQ6; B2RNX3; Q5VVQ5; Q6ZRS6; Q86T63; Q9P1L8; |
| Entrez ID | 55432 |
| Genbank protein ID | AAI37167.1; BAC87233.1; AAF71033.1; AAI37168.1; CAD89975.1; EAW93509.1; EAW93510.1; |
| Genbank nucleotide ID | NM_001276320.1; NM_018566.3; |
| Ensembl protein ID | ENSP00000326813; ENSP00000356051; |
| Ensembl nucleotide ID | ENSG00000180667 |
| Gene name | Ubiquitin thioesterase OTU1 |
| Gene symbol | YOD1 |
| Organism | Homo sapiens |
| NCBI taxa ID | 9606 |
| Cleft type | |
| Developmental stage | |
| Data sources | Manually collected |
| Reference | 26449438 |
| Functional description | Hydrolase that can remove conjugated ubiquitin from proteins and participates in endoplasmic reticulum-associated degradation (ERAD) for misfolded lumenal proteins. May act by triming the ubiquitin chain on the associated substrate to facilitate their threading through the VCP/p97 pore. Ubiquitin moieties on substrates may present a steric impediment to the threading process when the substrate is transferred to the VCP pore and threaded through VCP's axial channel. Mediates deubiquitination of 'Lys-27'-, 'Lys-29'- and 'Lys-33'-linked polyubiquitin chains. Also able to hydrolyze 'Lys-11'-linked ubiquitin chains. Cleaves both polyubiquitin and di-ubiquitin. May play a role in macroautophagy, regulating for instance the clearance of damaged lysosomes. May recruit PLAA, UBXN6 and VCP to damaged lysosome membranes decorated with K48-linked ubiquitin chains and remove these chains allowing autophagosome formation (PubMed:27753622). |
| Sequence | MFGPAKGRHF GVHPAPGFPG GVSQQAAGTK AGPAGAWPVG SRTDTMWRLR CKAKDGTHVL 60 QGLSSRTRVR ELQGQIAAIT GIAPGGQRIL VGYPPECLDL SNGDTILEDL PIQSGDMLII 120 EEDQTRPRSS PAFTKRGASS YVRETLPVLT RTVVPADNSC LFTSVYYVVE GGVLNPACAP 180 EMRRLIAQIV ASDPDFYSEA ILGKTNQEYC DWIKRDDTWG GAIEISILSK FYQCEICVVD 240 TQTVRIDRFG EDAGYTKRVL LIYDGIHYDP LQRNFPDPDT PPLTIFSSND DIVLVQALEL 300 ADEARRRRQF TDVNRFTLRC MVCQKGLTGQ AEAREHAKET GHTNFGEV 348 |
Abbreviation :
CLO : cleft lip only. CPO : cleft palate only.
CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.