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:0050534 | congenital stationary night blindness | |
DOID:0050564 | autosomal dominant nonsyndromic deafness | |
DOID:0050565 | autosomal recessive nonsyndromic deafness | |
DOID:0050566 | X-linked nonsyndromic deafness | |
DOID:0050570 | congenital disorder of glycosylation type I | |
DOID:0050571 | congenital disorder of glycosylation type II | |
DOID:0050572 | cone-rod dystrophy | |
DOID:0050590 | severe congenital neutropenia | |
DOID:0060135 | apraxia | |
DOID:0060690 | autosomal dominant auditory neuropathy 1 |
HPO ID | HPO Term |
---|---|
HP:0000006 | Autosomal dominant inheritance |
HP:0000007 | Autosomal recessive inheritance |
HP:0000252 | Microcephaly |
HP:0000260 | Wide anterior fontanel |
HP:0000272 | Malar flattening |
HP:0000340 | Sloping forehead |
HP:0000347 | Micrognathia |
HP:0000365 | Hearing impairment |
HP:0000407 | Sensorineural hearing impairment |
HP:0000444 | Convex nasal ridge |
Disease ID | Disease Name |
---|---|
ORPHA:85172 |
|
OMIM:613489 |
|
ORPHA:263501 |
|
OMIM:618150 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
103265656 | CARSF15455 | ||
115619586 | STRHB07581 |
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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