UniProt | Protein Name |
---|---|
Q14693 |
|
GO Term | Evidence Code | PMID |
---|---|---|
positive regulation of DNA replication | ||
phosphatidic acid biosynthetic process |
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 |
---|---|---|---|
100689029 | CRIGR08500 | ||
14245 | MGI:1891340 | MOUSE07718 | |
313977 | RGD:1307646 | RATNO36179 | |
100718634 | CAVPO23049 | ||
101721483 | HETGA25745 | ||
101868915 | MELUD14140 | ||
102459456 | PELSI11597 | ||
100562132 | ANOCA01120 | ||
103665286 | URSMA20391 | ||
114038342 | VOMUR23514 |
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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