UniProt | Protein Name |
---|---|
Q9H9E3 |
|
J3KNI1 |
|
Q8N8L9 |
|
A0A0A0MS45 |
|
GO Term | Evidence Code | PMID |
---|---|---|
Golgi organization | ||
retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum | ||
protein transport | ||
retrograde transport, vesicle recycling within Golgi | ||
glycosylation |
GO Term | Evidence Code | PMID |
---|---|---|
cytosol | ||
trans-Golgi network membrane |
|
|
Golgi membrane | ||
Golgi transport complex |
GO Term | Evidence Code | PMID |
---|---|---|
protein binding |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
DO ID | Disease Name | Source |
---|---|---|
DOID:0110498 | autosomal recessive nonsyndromic deafness 4 | |
DOID:0110499 | autosomal recessive nonsyndromic deafness 40 | |
DOID:0110500 | autosomal recessive nonsyndromic deafness 42 | |
DOID:0110501 | autosomal recessive nonsyndromic deafness 44 | |
DOID:0110502 | autosomal recessive nonsyndromic deafness 45 | |
DOID:0110503 | autosomal recessive nonsyndromic deafness 46 | |
DOID:0110504 | autosomal recessive nonsyndromic deafness 47 | |
DOID:0110505 | autosomal recessive nonsyndromic deafness 48 | |
DOID:0110506 | autosomal recessive nonsyndromic deafness 49 | |
DOID:0110507 | autosomal recessive nonsyndromic deafness 5 |
HPO ID | HPO Term |
---|---|
HP:0002007 | Frontal bossing |
HP:0002028 | Chronic diarrhea |
HP:0002059 | Cerebral atrophy |
HP:0002079 | Hypoplasia of the corpus callosum |
HP:0002119 | Ventriculomegaly |
HP:0002176 | Spinal cord compression |
HP:0002205 | Recurrent respiratory infections |
HP:0002240 | Hepatomegaly |
HP:0002254 | Intermittent diarrhea |
HP:0002509 | Limb hypertonia |
Disease ID | Disease Name |
---|---|
ORPHA:85172 |
|
OMIM:613489 |
|
ORPHA:263501 |
|
OMIM:618150 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
117034521 | RHIFE01038 | ||
100231422 | TAEGU03138 | ||
101809066 | FICAL04614 | ||
103233161 | CHLSB14782 | ||
108527444 | RHIBE01785 | ||
104677819 | RHIRO12352 | ||
114601863 | PODMU33298 | ||
107586011 | SINGR18977 | ||
107593196 | SINGR06678 | ||
106823441 | EQUAS14491 |
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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