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:0110508 | autosomal recessive nonsyndromic deafness 51 | |
DOID:0110509 | autosomal recessive nonsyndromic deafness 53 | |
DOID:0110510 | autosomal recessive nonsyndromic deafness 55 | |
DOID:0110511 | autosomal recessive nonsyndromic deafness 59 | |
DOID:0110512 | autosomal recessive nonsyndromic deafness 6 | |
DOID:0110513 | autosomal recessive nonsyndromic deafness 61 | |
DOID:0110514 | autosomal recessive nonsyndromic deafness 62 | |
DOID:0110515 | autosomal recessive nonsyndromic deafness 63 | |
DOID:0110516 | autosomal recessive nonsyndromic deafness 65 | |
DOID:0110517 | autosomal recessive nonsyndromic deafness 66 |
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 |
---|---|---|---|
173518 | WB:WBGene00021784 | ||
34442 | FB:FBgn0032258 | ||
103186661 | CALMI35168 | ||
102347455 | LATCH08888 | ||
569049 | ZFIN:ZDB-GENE-060312-33 | DANRE40655 | |
108270940 | ICTPU00809 | ||
124628587 | ICTPU00809 | ||
113579092 | ELEEL23758 | ||
106587423 | SALSA95558 | ||
115167218 | SALTR82714 |
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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