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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
GDP-mannose pyrophosphorylase A
Summary
- Gene Symbol
-
- GMPPA
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- 3D-structure
- Alternative splicing
- Cytoplasm
- Disease variant
- Intellectual disability
- Reference proteome
- Proteins
| UniProt | Protein Name |
|---|---|
| Q96IJ6 |
|
| A0A384MDS7 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| biosynthetic process |
| GO Term | Evidence Code | PMID |
|---|---|---|
| cytoplasm | ||
| extracellular exosome |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| transferase activity | ||
| protein binding |
Human Protein Atlas
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
KEGG BRITE Database
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0050428 | nonepidermolytic palmoplantar keratoderma | |
| DOID:0050602 | triple-A syndrome | |
| DOID:0112321 | alacrima, achalasia, and impaired intellectual development syndrome | |
| DOID:10003 | sensorineural hearing loss | |
| DOID:10493 | adrenal cortical hypofunction | |
| DOID:1059 | intellectual disability | |
| DOID:10907 | microcephaly | |
| DOID:11832 | visual epilepsy | |
| DOID:12270 | coloboma | |
| DOID:13186 | megaesophagus |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000252 | Microcephaly |
| HP:0000322 | Short philtrum |
| HP:0000325 | Triangular face |
| HP:0000365 | Hearing impairment |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0000448 | Prominent nose |
| HP:0000486 | Strabismus |
| HP:0000505 | Visual impairment |
| HP:0000508 | Ptosis |
| Disease ID | Disease Name |
|---|---|
| ORPHA:869 |
|
| OMIM:615510 |
|
PubChem Disease
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 172033 | WB:WBGene00021628 | ||
| 36730 | FB:FBgn0034035 | ||
| 102363205 | LATCH13765 | ||
| 393469 | ZFIN:ZDB-GENE-040426-1550 | DANRE38946 | |
| 431743 | ZFIN:ZDB-GENE-040704-37 | DANRE45579 | |
| 103030670 | ASTMX15012 | ||
| 113574043 | ELEEL11077 | ||
| 113585176 | ELEEL05040 | ||
| 100196726 | SALSA110787 | ||
| 106581839 | SALSA99486 |
