UniProt | Protein Name |
---|---|
P10253 |
|
GO Term | Evidence Code | PMID |
---|---|---|
muscle cell cellular homeostasis | ||
neuromuscular process controlling posture | ||
regulation of the force of heart contraction | ||
glycophagy | ||
tissue development |
GO Term | Evidence Code | PMID |
---|---|---|
intracellular membrane-bounded organelle | ||
azurophil granule membrane | ||
ficolin-1-rich granule membrane | ||
autolysosome lumen | ||
plasma membrane |
GO Term | Evidence Code | PMID |
---|---|---|
maltose alpha-glucosidase activity | ||
alpha-glucosidase activity | ||
alpha-1,4-glucosidase activity | ||
carbohydrate binding |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
DO ID | Disease Name | Source |
---|---|---|
DOID:0014667 | disease of metabolism | |
DOID:0050700 | cardiomyopathy | |
DOID:0050753 | cerebellar ataxia | |
DOID:0060357 | chylomicron retention disease | |
DOID:0080326 | familial hypertrophic cardiomyopathy | |
DOID:0080482 | peroxisome biogenesis disorder 7A | |
DOID:0080522 | thyroid gland anaplastic carcinoma | |
DOID:0110106 | atrial heart septal defect 1 | |
DOID:0110107 | atrial heart septal defect 2 | |
DOID:0110108 | atrial heart septal defect 3 |
HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0000020 | Urinary incontinence |
HP:0000158 | Macroglossia |
HP:0000183 | Difficulty in tongue movements |
HP:0000297 | Facial hypotonia |
HP:0000365 | Hearing impairment |
HP:0001249 | Intellectual disability |
HP:0001252 | Hypotonia |
HP:0001265 | Hyporeflexia |
HP:0001270 | Motor delay |
Disease ID | Disease Name |
---|---|
ORPHA:308552 |
|
OMIM:232300 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
173848 | WB:WBGene00019895 | ||
103175511 | CALMI08178 | ||
100002366 | ZFIN:ZDB-GENE-070212-2 | ||
100332784 | ZFIN:ZDB-GENE-130530-749 | ||
108260916 | ICTPU24948 | ||
113573276 | ELEEL12851 | ||
105013030 | ESOLU31562 | ||
115171667 | SALTR94273 | ||
115535598 | GADMO39633 | ||
103469228 | POERE32433 |
GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.
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