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:0110478 | autosomal recessive nonsyndromic deafness 20 | |
DOID:0110479 | autosomal recessive nonsyndromic deafness 21 | |
DOID:0110480 | autosomal recessive nonsyndromic deafness 22 | |
DOID:0110481 | autosomal recessive nonsyndromic deafness 23 | |
DOID:0110482 | autosomal recessive nonsyndromic deafness 24 | |
DOID:0110483 | autosomal recessive nonsyndromic deafness 25 | |
DOID:0110484 | autosomal recessive nonsyndromic deafness 26 | |
DOID:0110485 | autosomal recessive nonsyndromic deafness 27 | |
DOID:0110486 | autosomal recessive nonsyndromic deafness 28 | |
DOID:0110487 | autosomal recessive nonsyndromic deafness 29 |
HPO ID | HPO Term |
---|---|
HP:0006583 | Fatal liver failure in infancy |
HP:0006892 | Frontotemporal cerebral atrophy |
HP:0008897 | Postnatal growth retardation |
HP:0008935 | Generalized neonatal hypotonia |
HP:0008936 | Axial hypotonia |
HP:0009193 | Pseudoepiphyses of the metacarpals |
HP:0009882 | Short distal phalanx of finger |
HP:0010049 | Short metacarpal |
HP:0010230 | Cone-shaped epiphyses of the phalanges of the hand |
HP:0010580 | Enlarged epiphyses |
Disease ID | Disease Name |
---|---|
ORPHA:85172 |
|
OMIM:613489 |
|
ORPHA:263501 |
|
OMIM:618150 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
101320911 | TURTR15257 | ||
118885289 | BALMU17269 | ||
100672262 | LOXAF07450 | ||
100054801 | HORSE31407 | ||
100625346 | PIGXX27110 | ||
533007 | BOVIN10112 | ||
102170450 | CAPHI08183 | ||
101113782 | SHEEP04838 | ||
100339226 | RABIT11059 | ||
105982960 | DIPOR05089 |
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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