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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
ALG9 alpha-1,2-mannosyltransferase
Summary
- Gene Symbol
-
- ALG9
- Aliases
-
- dol-P-Man dependent alpha-1,2-mannosyltransferase
- dolichyl-P-Man:Man(6)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase
- dolichyl-P-Man:Man(8)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- Alternative splicing
- Chromosomal rearrangement
- Congenital disorder of glycosylation
- Disease variant
- Endoplasmic reticulum
- Glycoprotein
- Glycosyltransferase
- Reference proteome
- Transmembrane helix
- Proteins
| UniProt | Protein Name |
|---|---|
| Q9H6U8 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| protein N-linked glycosylation | ||
| dolichol-linked oligosaccharide biosynthetic process |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| lumenal side of endoplasmic reticulum membrane | ||
| endoplasmic reticulum membrane | ||
| membrane |
| GO Term | Evidence Code | PMID |
|---|---|---|
| dol-P-Man:Man(6)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity | ||
| alpha-1,2-mannosyltransferase activity | ||
| dol-P-Man:Man(8)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity |
GO Hierarchy
Human Protein Atlas
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
GlycoGene Database (GGDB)
- GGDB ID
- gg148
- Gene Symbol
-
- ALG9
- Reactions
G48148JS
G39578OU
G44865OQ
G72103RY
- Orthologous Gene
| Species | Protein | mRNA |
|---|---|---|
| Arabidopsis thaliana | NP_173134 | NM_101551 |
| Saccharomyces cerevisiae | CAA96122 | Z71495 |
| Rattus norvegicus | XP_345939 | XM_345938 |
| Drosophila melanogaster | NP_651353 | NM_143096 |
| Caenorhabditis elegans | NP_496282 | NM_063881 |
| Mus musculus | NP_598742 | NM_133981 |
KEGG BRITE Database
G74840NI
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0070122 | Meckel syndrome 8 | |
| DOID:0080564 | congenital disorder of glycosylation Il | |
| DOID:0110858 | polycystic kidney disease 1 | |
| DOID:10293 | monocular esotropia | |
| DOID:1059 | intellectual disability | |
| DOID:10907 | microcephaly | |
| DOID:11119 | Gilles de la Tourette syndrome | |
| DOID:11175 | enophthalmos | |
| DOID:11328 | schizophreniform disorder | |
| DOID:114 | heart disease |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0010763 | Low insertion of columella |
| HP:0011004 | Abnormal systemic arterial morphology |
| HP:0011103 | Abnormal left ventricular outflow tract morphology |
| HP:0011473 | Villous atrophy |
| HP:0011760 | Pituitary growth hormone cell adenoma |
| HP:0011849 | Abnormal bone ossification |
| HP:0012207 | Reduced sperm motility |
| HP:0012213 | Decreased glomerular filtration rate |
| HP:0012330 | Pyelonephritis |
| HP:0012448 | Delayed myelination |
| Disease ID | Disease Name |
|---|---|
| ORPHA:79328 |
|
| OMIM:263210 |
|
| ORPHA:730 |
|
| OMIM:608776 |
|
PubChem Disease
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 174633 | WB:WBGene00007556 | ||
| 43031 | FB:FBgn0039293 | ||
| 393598 | ZFIN:ZDB-GENE-040426-1270 | DANRE36041 | |
| 103032018 | ASTMX03482 | ||
| 108259968 | ICTPU22784 | ||
| 115546678 | GADMO56012 | ||
| 101170535 | ORYLA04132 | ||
| 100708529 | ORENI05036 | ||
| 115593882 | SPAAU19870 | ||
| 108696484 | Xenbase:XB-GENE-6486179 |
