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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
collagen type XII alpha 1 chain
Summary
- Gene Symbol
-
- COL12A1
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- Alternative splicing
- Cell adhesion
- Collagen
- Congenital muscular dystrophy
- Direct protein sequencing
- Disease variant
- Disulfide bond
- Extracellular matrix
- Hydroxylation
- Proteoglycan
- Reference proteome
- Repeat
- Signal
- Proteins
| UniProt | Protein Name |
|---|---|
| Q99715 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| endodermal cell differentiation | ||
| collagen fibril organization | ||
| cell adhesion |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| extracellular vesicle | ||
| collagen-containing extracellular matrix | ||
| endoplasmic reticulum lumen | ||
| extracellular region | ||
| collagen type XII trimer |
GO Hierarchy
OrthoDB (Group)
- Group level
- Eukaryota
- Group Name
- Collagen alpha-1(XII) chain
- Functional Category
-
- E: Amino acid transport and metabolism
- G: Carbohydrate transport and metabolism
- M: Cell wall/membrane/envelope biogenesis
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0050663 | Bethlem myopathy |
Ortholog
| Species | Gene ID | OrthoDB | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|---|
| 115543817 | GADMO49129 | |||
| 115573838 | SPAAU61293 | |||
| 116442154 | CORMO19139 | |||
| 117018819 | RHIFE11452 | |||
| 118904868 | BALMU27524 | |||
| 122220096 | PANLE16233 | |||
| 123796353 | URSAM11538 | |||
| 129038749 | 9600_0:001a19 |
