UniProt | Protein Name |
---|---|
Q8NHU3 |
|
GO Term | Evidence Code | PMID |
---|---|---|
sphingomyelin biosynthetic process | ||
ceramide biosynthetic process | ||
regulation of bone mineralization | ||
ceramide phosphoethanolamine biosynthetic process | ||
sphingolipid biosynthetic process |
|
GO Term | Evidence Code | PMID |
---|---|---|
endoplasmic reticulum membrane | ||
plasma membrane | ||
Golgi apparatus | ||
Golgi membrane | ||
nucleoplasm |
GO Term | Evidence Code | PMID |
---|---|---|
kinase activity | ||
ceramide phosphoethanolamine synthase activity | ||
ceramide cholinephosphotransferase activity | ||
protein binding | ||
sphingomyelin synthase activity |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
DO ID | Disease Name | Source |
---|---|---|
DOID:0040085 | bacterial sepsis | |
DOID:0060180 | colitis | |
DOID:0060189 | ileitis | |
DOID:0060190 | ileocolitis | |
DOID:0060249 | scoliosis | |
DOID:0080348 | Alzheimer's disease 1 | |
DOID:0080721 | calvarial doughnut lesions with bone fragility | |
DOID:0110035 | Alzheimer's disease 2 | |
DOID:0110037 | Alzheimer's disease 5 | |
DOID:0110038 | Alzheimer's disease 6 |
HPO ID | HPO Term |
---|---|
HP:0000006 | Autosomal dominant inheritance |
HP:0000410 | Mixed hearing impairment |
HP:0000670 | Carious teeth |
HP:0000926 | Platyspondyly |
HP:0000938 | Osteopenia |
HP:0000939 | Osteoporosis |
HP:0001270 | Motor delay |
HP:0002650 | Scoliosis |
HP:0002684 | Thickened calvaria |
HP:0002757 | Recurrent fractures |
Disease ID | Disease Name |
---|---|
OMIM:126550 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
178072 | WB:WBGene00004892 | ||
103187947 | CALMI37901 | ||
102360282 | LATCH01785 | ||
556193 | ZFIN:ZDB-GENE-070730-2 | DANRE17309 | |
445247 | ZFIN:ZDB-GENE-040801-162 | ||
103032666 | ASTMX13877 | ||
108262964 | ICTPU26345 | ||
113591284 | ELEEL46459 | ||
106602292 | SALSA24500 | ||
106610338 | SALSA24500 |
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
This work is licensed under Creative Commons Attribution 4.0 International
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Last updated: August 19, 2024