UniProt | Protein Name |
---|---|
Q96AA3 |
|
GO Term | Evidence Code | PMID |
---|---|---|
protein N-linked glycosylation | ||
glycolipid translocation | ||
dolichol-linked oligosaccharide biosynthetic process |
GO Term | Evidence Code | PMID |
---|---|---|
endoplasmic reticulum membrane |
GO Term | Evidence Code | PMID |
---|---|---|
glycolipid floppase activity |
|
|
protein binding |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
DO ID | Disease Name | Source |
---|---|---|
DOID:0050562 | West syndrome | |
DOID:0050570 | congenital disorder of glycosylation type I | |
DOID:0050589 | inflammatory bowel disease | |
DOID:0050841 | focal hand dystonia | |
DOID:0060192 | Crohn's colitis | |
DOID:0060823 | syndromic X-linked intellectual disability 94 | |
DOID:0080470 | developmental and epileptic encephalopathy 36 | |
DOID:0080566 | congenital disorder of glycosylation In | |
DOID:0110892 | inflammatory bowel disease 1 | |
DOID:10003 | sensorineural hearing loss |
HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0000252 | Microcephaly |
HP:0000347 | Micrognathia |
HP:0000365 | Hearing impairment |
HP:0000407 | Sensorineural hearing impairment |
HP:0000470 | Short neck |
HP:0000505 | Visual impairment |
HP:0000932 | Abnormal posterior cranial fossa morphology |
HP:0001181 | Adducted thumb |
HP:0001250 | Seizure |
Disease ID | Disease Name |
---|---|
OMIM:612015 |
|
ORPHA:244310 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
177216 | WB:WBGene00022677 | ||
31489 | FB:FBgn0027564 | ||
103189499 | CALMI41626 | ||
103189500 | CALMI41626 | ||
559873 | ZFIN:ZDB-GENE-110411-126 | ||
108272081 | ICTPU02554 | ||
113575972 | ELEEL17810 | ||
115150556 | SALTR31663 | ||
115556572 | GADMO10322 | ||
101154940 | ORYLA13730 |
GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.
Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
This work is licensed under Creative Commons Attribution 4.0 International
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Last updated: August 19, 2024