UniProt | Protein Name |
---|---|
Q2TAA5 |
|
GO Term | Evidence Code | PMID |
---|---|---|
protein N-linked glycosylation | ||
dolichol-linked oligosaccharide biosynthetic process | ||
oligosaccharide-lipid intermediate biosynthetic process |
GO Term | Evidence Code | PMID |
---|---|---|
alpha-1,2-mannosyltransferase activity | ||
GDP-Man:Man3GlcNAc2-PP-Dol alpha-1,2-mannosyltransferase activity |
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
Species | Protein | mRNA |
---|---|---|
Saccharomyces cerevisiae | NP_014350 | NC_001146 |
Rattus norvegicus | XP_341460 | XM_341459 |
Drosophila melanogaster | NP_649340 | NM_141083 |
Caenorhabditis elegans | NP_498606 | NM_066205 |
Mus musculus | NP_898965 | NM_183142 |
DO ID | Disease Name | Source |
---|---|---|
DOID:0050570 | congenital disorder of glycosylation type I | |
DOID:0060249 | scoliosis | |
DOID:0080567 | congenital disorder of glycosylation Ip | |
DOID:10003 | sensorineural hearing loss | |
DOID:1059 | intellectual disability | |
DOID:10907 | microcephaly | |
DOID:11832 | visual epilepsy | |
DOID:1443 | cerebral degeneration | |
DOID:1826 | epilepsy | |
DOID:5212 | congenital disorder of glycosylation |
HPO ID | HPO Term |
---|---|
HP:0008000 | Decreased corneal reflex |
HP:0008936 | Axial hypotonia |
HP:0008947 | Infantile muscular hypotonia |
HP:0009124 | Abnormal adipose tissue morphology |
HP:0010851 | EEG with burst suppression |
HP:0011198 | EEG with generalized epileptiform discharges |
HP:0011842 | Abnormal skeletal morphology |
HP:0011968 | Feeding difficulties |
HP:0012448 | Delayed myelination |
HP:0012704 | Widened subarachnoid space |
Disease ID | Disease Name |
---|---|
OMIM:613661 |
|
ORPHA:280071 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
100028147 | MONDO22477 | ||
102453750 | PELSI11648 | ||
100552965 | ANOCA01020 | ||
103677631 | URSMA06498 | ||
114039193 | VOMUR24026 | ||
113902269 | BOBOX42253 | ||
102544695 | VICPA07305 | ||
100946273 | OTOGA01838 | ||
101079741 | TAKRU49395 | ||
102007144 | CHILA09151 |
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
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024