UniProt | Protein Name |
---|---|
P83436 |
|
A0A0S2Z652 |
|
GO Term | Evidence Code | PMID |
---|---|---|
Golgi organization | ||
protein localization to organelle | ||
protein stabilization | ||
intracellular protein transport | ||
retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum |
GO Term | Evidence Code | PMID |
---|---|---|
intracellular membrane-bounded organelle | ||
trans-Golgi network membrane |
|
|
Golgi apparatus | ||
Golgi membrane | ||
nucleolus |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
DO ID | Disease Name | Source |
---|---|---|
DOID:0050571 | congenital disorder of glycosylation type II | |
DOID:0050700 | cardiomyopathy | |
DOID:0060655 | autosomal recessive congenital ichthyosis | |
DOID:0060656 | autosomal recessive congenital ichthyosis 1 | |
DOID:0060710 | autosomal recessive congenital ichthyosis 2 | |
DOID:0060711 | autosomal recessive congenital ichthyosis 3 | |
DOID:0060712 | autosomal recessive congenital ichthyosis 4A | |
DOID:0060714 | autosomal recessive congenital ichthyosis 5 | |
DOID:0060715 | autosomal recessive congenital ichthyosis 6 | |
DOID:0060716 | autosomal recessive congenital ichthyosis 7 |
HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0000011 | Neurogenic bladder |
HP:0000077 | Abnormality of the kidney |
HP:0000126 | Hydronephrosis |
HP:0000160 | Narrow mouth |
HP:0000253 | Progressive microcephaly |
HP:0000278 | Retrognathia |
HP:0000294 | Low anterior hairline |
HP:0000319 | Smooth philtrum |
HP:0000341 | Narrow forehead |
Disease ID | Disease Name |
---|---|
OMIM:608779 |
|
ORPHA:79333 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
43547 | FB:FBgn0051040 | ||
100185334 | CIOIN00669 | ||
103186628 | CALMI35121 | ||
102353663 | LATCH08542 | ||
768247 | ZFIN:ZDB-GENE-061013-463 | DANRE26625 | |
108264483 | ICTPU13354 | ||
113578455 | ELEEL22304 | ||
106578298 | SALSA60522 | ||
106579184 | SALSA62779 | ||
115160107 | SALTR01235 |
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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