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:0000958 | Dry skin |
HP:0001249 | Intellectual disability |
HP:0001250 | Seizure |
HP:0001251 | Ataxia |
HP:0001252 | Hypotonia |
HP:0001263 | Global developmental delay |
HP:0001276 | Hypertonia |
HP:0001319 | Neonatal hypotonia |
HP:0001344 | Absent speech |
HP:0001347 | Hyperreflexia |
Disease ID | Disease Name |
---|---|
OMIM:613661 |
|
ORPHA:280071 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
108519343 | RHIBE40202 | ||
104653861 | RHIRO39795 | ||
101177074 | NOMLE30669 | ||
114593600 | PODMU17686 | ||
107556718 | SINGR57229 | ||
107588826 | SINGR44103 | ||
116826918 | CHEAB28691 | ||
105298891 | PTEVA07099 | ||
115035177 | ECHNA11949 | ||
115052967 | ECHNA17600 |
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