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:0110528 | autosomal recessive nonsyndromic deafness 83 | |
DOID:0110529 | autosomal recessive nonsyndromic deafness 84A | |
DOID:0110530 | autosomal recessive nonsyndromic deafness 84B | |
DOID:0110531 | autosomal recessive nonsyndromic deafness 85 | |
DOID:0110532 | autosomal recessive nonsyndromic deafness 86 | |
DOID:0110533 | autosomal recessive nonsyndromic deafness 88 | |
DOID:0110534 | autosomal recessive nonsyndromic deafness 89 | |
DOID:0110535 | autosomal recessive nonsyndromic deafness 9 | |
DOID:0110536 | autosomal recessive nonsyndromic deafness 91 | |
DOID:0110537 | autosomal recessive nonsyndromic deafness 93 |
HPO ID | HPO Term |
---|---|
HP:0001433 | Hepatosplenomegaly |
HP:0001508 | Failure to thrive |
HP:0001510 | Growth delay |
HP:0001511 | Intrauterine growth retardation |
HP:0001531 | Failure to thrive in infancy |
HP:0001744 | Splenomegaly |
HP:0001762 | Talipes equinovarus |
HP:0001873 | Thrombocytopenia |
HP:0001875 | Neutropenia |
HP:0001999 | Abnormal facial shape |
Disease ID | Disease Name |
---|---|
ORPHA:85172 |
|
OMIM:613489 |
|
ORPHA:263501 |
|
OMIM:618150 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
100752814 | CRIGR08235 | ||
102339 | MGI:2142808 | MOUSE58222 | |
361407 | RGD:1310549 | RATNO15074 | |
100722825 | CAVPO10998 | ||
101568746 | OCTDE03462 | ||
101722634 | HETGA01604 | ||
101869843 | MELUD03616 | ||
100024504 | MONDO07881 | ||
100560090 | ANOCA12813 | ||
103673575 | URSMA21283 |
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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