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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
ALG14 UDP-N-acetylglucosaminyltransferase subunit
Summary
- Gene Symbol
-
- ALG14
- Aliases
-
- MGC19780
- Organism
- Homo sapiens (human)
External Links
- NCBI Gene
- 199857
- GGDB ID
- HGNC
- 28287
- mRNA
- map
-
- 1p21.3
- Protein
- OMIM
- KEGG Gene ID
- hsa:199857
- PubChem
- 199857
- Alliance of Genome Resources
Annotation
- Keyword
-
- Congenital myasthenic syndrome
- Disease variant
- Endoplasmic reticulum
- Epilepsy
- Intellectual disability
- Neurodegeneration
- Nucleus
- Reference proteome
- Transmembrane helix
- Proteins
| UniProt | Protein Name |
|---|---|
| Q96F25 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| protein N-linked glycosylation | ||
| dolichol-linked oligosaccharide biosynthetic process |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| UDP-N-acetylglucosamine transferase complex | ||
| endoplasmic reticulum membrane | ||
| cytoplasmic side of endoplasmic reticulum membrane | ||
| nuclear membrane |
|
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity | ||
| protein-membrane adaptor activity | ||
| protein binding |
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
- gg202
- Gene Symbol
-
- ALG14
- Reactions
G68544GH
G05026ZL
- Orthologous Gene
| Species | Protein | mRNA |
|---|---|---|
| Saccharomyces cerevisiae | NP_009626 | X76294 |
| Rattus norvegicus | NP_001014198 | NM_001014176 |
| Drosophila melanogaster | NP_573031 | NM_132803 |
| Caenorhabditis elegans | NP_500417 | NM_068016 |
| Mus musculus | NP_077140 | NM_024178 |
KEGG BRITE Database
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0060249 | scoliosis | |
| DOID:0060250 | idiopathic scoliosis | |
| DOID:0060260 | ptosis | |
| DOID:0060261 | congenital ptosis | |
| DOID:0060823 | syndromic X-linked intellectual disability 94 | |
| DOID:0110658 | congenital myasthenic syndrome 15 | |
| DOID:0111338 | isolated elevated serum creatine phosphokinase levels | |
| DOID:1029 | familial periodic paralysis | |
| DOID:1059 | intellectual disability | |
| DOID:11836 | clubfoot |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000218 | High palate |
| HP:0000262 | Turricephaly |
| HP:0000280 | Coarse facial features |
| HP:0000303 | Mandibular prognathia |
| HP:0000347 | Micrognathia |
| HP:0000508 | Ptosis |
| HP:0000581 | Blepharophimosis |
| HP:0000717 | Autism |
| HP:0000718 | Aggressive behavior |
| Disease ID | Disease Name |
|---|---|
| OMIM:619036 |
|
| OMIM:616227 |
|
| OMIM:619031 |
|
| ORPHA:353327 |
|
PubChem Disease
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 187398 | WB:WBGene00019725 | ||
| 32479 | FB:FBgn0030645 | ||
| 101242566 | CIOIN10601 | ||
| 102360056 | LATCH06684 | ||
| 450072 | ZFIN:ZDB-GENE-041010-195 | DANRE25739 | |
| 108270360 | ICTPU14155 | ||
| 113580884 | ELEEL03405 | ||
| 105022590 | ESOLU63166 | ||
| 115195344 | SALTR95927 | ||
| 115537049 | GADMO37618 |
