UniProt | Protein Name |
---|---|
Q14693 |
|
GO Term | Evidence Code | PMID |
---|---|---|
phosphatidylethanolamine metabolic process | ||
negative regulation of myelination | ||
triglyceride mobilization | ||
cellular response to insulin stimulus | ||
mitotic nuclear membrane disassembly |
|
GO Term | Evidence Code | PMID |
---|---|---|
endoplasmic reticulum membrane |
|
|
mitochondrial outer membrane | ||
nuclear membrane | ||
nucleoplasm |
|
GO Term | Evidence Code | PMID |
---|---|---|
phosphatidate phosphatase activity | ||
transcription coactivator activity | ||
protein binding |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
DO ID | Disease Name | Source |
---|---|---|
DOID:0110151 | Charcot-Marie-Tooth disease type 1C | |
DOID:0110152 | Charcot-Marie-Tooth disease type 1B | |
DOID:0050540 | Charcot-Marie-Tooth disease type 3 | |
DOID:0050782 | Zollinger-Ellison syndrome | |
DOID:0060067 | Pearson syndrome | |
DOID:0060180 | colitis | |
DOID:0060189 | ileitis | |
DOID:0060190 | ileocolitis | |
DOID:0060600 | obsolete hereditary motor and sensory neuropathy with agenesis of the corpus callosum | |
DOID:0060843 | hereditary neuropathy with liability to pressure palsies |
HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0000083 | Renal insufficiency |
HP:0000467 | Neck muscle weakness |
HP:0001265 | Hyporeflexia |
HP:0001284 | Areflexia |
HP:0001315 | Reduced tendon reflexes |
HP:0001324 | Muscle weakness |
HP:0001919 | Acute kidney injury |
HP:0001945 | Fever |
HP:0002153 | Hyperkalemia |
Disease ID | Disease Name |
---|---|
ORPHA:99845 |
|
OMIM:268200 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
179853 | WB:WBGene00010425 | ||
35790 | FB:FBgn0263593 | ||
103180941 | CALMI21550 | ||
102356844 | LATCH13644 | ||
560638 | ZFIN:ZDB-GENE-081031-51 | ||
799099 | ZFIN:ZDB-GENE-080722-2 | ||
108717186 | Xenbase:XB-GENE-17345006 | ||
108718250 | Xenbase:XB-GENE-6488413 | ||
779950 | Xenbase:XB-GENE-1032881 | ||
101948683 | CHRPI05369 |
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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