GO Term | Evidence Code | PMID |
---|---|---|
regulation of chaperone-mediated autophagy |
|
|
proteolysis | ||
negative regulation of chaperone-mediated autophagy | ||
intracellular protein transport |
|
|
regulation of protein stability |
GO Term | Evidence Code | PMID |
---|---|---|
intracellular membrane-bounded organelle | ||
endoplasmic reticulum |
|
|
extracellular region |
|
|
membrane | ||
lumenal side of lysosomal membrane |
|
GO Term | Evidence Code | PMID |
---|---|---|
serine-type carboxypeptidase activity | ||
carboxypeptidase activity |
|
|
enzyme activator activity |
|
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
DO ID | Disease Name | Source |
---|---|---|
DOID:0080540 | galactosialidosis | |
DOID:0111035 | CADASIL 1 | |
DOID:0111390 | mucopolysaccharidosis Ih | |
DOID:0111392 | mucopolysaccharidosis type IVB | |
DOID:10003 | sensorineural hearing loss | |
DOID:1003 | pelvic inflammatory disease | |
DOID:1059 | intellectual disability | |
DOID:1074 | kidney failure | |
DOID:10763 | hypertension | |
DOID:10825 | essential hypertension |
HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0000280 | Coarse facial features |
HP:0000365 | Hearing impairment |
HP:0000524 | Conjunctival telangiectasia |
HP:0000925 | Abnormality of the vertebral column |
HP:0000943 | Dysostosis multiplex |
HP:0001028 | Hemangioma |
HP:0001249 | Intellectual disability |
HP:0001250 | Seizure |
HP:0001433 | Hepatosplenomegaly |
Disease ID | Disease Name |
---|---|
OMIM:256540 |
|
ORPHA:351 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
173818 | WB:WBGene00018271 | ||
174057 | WB:WBGene00019605 | ||
174189 | WB:WBGene00017969 | ||
174802 | WB:WBGene00008741 | ||
175938 | WB:WBGene00021503 | ||
182429 | WB:WBGene00007462 | ||
116944296 | PETMA05198 | ||
103191463 | CALMI05189 | ||
102354641 | LATCH19884 | ||
321818 | ZFIN:ZDB-GENE-030131-537 | DANRE38179 |
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Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024