UniProt | Protein Name |
---|---|
Q9Y6A1 |
|
A0A140VKE0 |
|
GO Term | Evidence Code | PMID |
---|---|---|
positive regulation of protein O-linked glycosylation | ||
protein O-linked glycosylation | ||
extracellular matrix organization | ||
protein O-linked mannosylation |
GO Term | Evidence Code | PMID |
---|---|---|
endoplasmic reticulum | ||
endoplasmic reticulum membrane | ||
membrane | ||
sarcoplasmic reticulum | ||
acrosomal vesicle |
GO Term | Evidence Code | PMID |
---|---|---|
dolichyl-phosphate-mannose-protein mannosyltransferase activity | ||
mannosyltransferase activity | ||
metal ion binding |
Species | Protein | mRNA |
---|---|---|
Saccharomyces cerevisiae | NP_010188 | NC_001136.6 |
Rattus norvegicus | NP_445858 | NM_053406 |
Drosophila melanogaster | NP_524025 | NM_079301 |
Mus musculus | NP_660127 | NM_145145 |
DO ID | Disease Name | Source |
---|---|---|
DOID:0110096 | short-rib thoracic dysplasia 14 with polydactyly | |
DOID:0110213 | isolated cleft palate | |
DOID:0110273 | autosomal dominant limb-girdle muscular dystrophy | |
DOID:0110274 | autosomal recessive limb-girdle muscular dystrophy | |
DOID:0110275 | autosomal recessive limb-girdle muscular dystrophy type 2A | |
DOID:0110276 | autosomal recessive limb-girdle muscular dystrophy type 2B | |
DOID:0110277 | autosomal recessive limb-girdle muscular dystrophy type 2C | |
DOID:11383 | cryptorchidism | |
DOID:0110278 | autosomal recessive limb-girdle muscular dystrophy type 2D | |
DOID:0110279 | autosomal recessive limb-girdle muscular dystrophy type 2E |
HPO ID | HPO Term |
---|---|
HP:0010864 | Intellectual disability, severe |
HP:0011463 | Childhood onset |
HP:0011968 | Feeding difficulties |
HP:0012110 | Hypoplasia of the pons |
HP:0012400 | Abnormal circulating aldolase concentration |
HP:0012443 | Abnormal brain morphology |
HP:0012548 | Fatty replacement of skeletal muscle |
HP:0012695 | Decreased thalamic volume |
HP:0012735 | Cough |
HP:0012793 | Kinked brainstem |
Disease ID | Disease Name |
---|---|
ORPHA:370980 |
|
ORPHA:899 |
|
ORPHA:370968 |
|
OMIM:236670 |
|
ORPHA:86812 |
|
OMIM:613155 |
|
ORPHA:370959 |
|
OMIM:609308 |
|
ORPHA:588 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
853608 | SGD:S000003904 | ||
109067947 | CYPCA17863 | ||
103727607 | NANGA03940 | ||
116454328 | CORMO10549 | ||
115616997 | STRHB17901 |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024