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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
FRAS1 related extracellular matrix 1
Summary
- Gene Symbol
-
- FREM1
- Aliases
-
- C9orf143
- C9orf145
- DKFZp686M16108
- FLJ25461
- TILRR
- Organism
- Homo sapiens (human)
External Links
- NCBI Gene
- 158326
- HGNC
- 23399
- KEGG Gene ID
- hsa:158326
- PubChem
- 158326
- Alliance of Genome Resources
Annotation
- Keyword
-
- Alternative splicing
- Basement membrane
- Calcium
- Cell adhesion
- Craniosynostosis
- Developmental protein
- Disease variant
- Disulfide bond
- Glycoprotein
- Lectin
- Metal-binding
- Reference proteome
- Repeat
- Signal
- Proteins
| UniProt | Protein Name |
|---|---|
| Q5H8C1 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| cell-matrix adhesion | ||
| cell communication | ||
| anatomical structure morphogenesis | ||
| craniofacial suture morphogenesis |
| GO Term | Evidence Code | PMID |
|---|---|---|
| membrane | ||
| collagen-containing extracellular matrix | ||
| basement membrane | ||
| extracellular region |
| GO Term | Evidence Code | PMID |
|---|---|---|
| protein binding | ||
| metal ion binding | ||
| carbohydrate binding |
OrthoDB (Group)
- Group level
- Eukaryota
- Group Name
- extracellular matrix
- Functional Category
-
- G: Carbohydrate transport and metabolism
- O: Posttranslational modification, protein turnover, chaperones
- T: Signal transduction mechanisms
| Gene Ontology |
|---|
| anatomical structure morphogenesis |
| cell communication |
| InterPro |
|---|
| CSPG repeat |
KEGG BRITE Database
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0060732 | chromosome 9p deletion syndrome | |
| DOID:0090001 | Fraser syndrome | |
| DOID:3827 | congenital diaphragmatic hernia |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000316 | Hypertelorism |
| HP:0000322 | Short philtrum |
| HP:0000336 | Prominent supraorbital ridges |
| HP:0000358 | Posteriorly rotated ears |
| HP:0000369 | Low-set ears |
| HP:0000396 | Overfolded helix |
| HP:0000414 | Bulbous nose |
| HP:0000431 | Wide nasal bridge |
| HP:0000455 | Broad nasal tip |
| HP:0000456 | Bifid nasal tip |
| Disease ID | Disease Name |
|---|---|
| ORPHA:2717 |
|
| OMIM:248450 |
|
| OMIM:608980 |
|
| ORPHA:3366 |
|
| ORPHA:217266 |
|
| OMIM:614485 |
|
PubChem Disease
- GHR Health Conditions
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
Ortholog
| Species | Gene ID | OrthoDB | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|---|
| 109323291 | CROPO12619 | |||
| 110196479 | PHACI10958 | |||
| 112921991 | VULVU14961 | |||
| 113580476 | ELEEL26806 | |||
| 113897025 | BOBOX31797 | |||
| 114043953 | VOMUR08136 | |||
| 114587381 | PODMU23766 | |||
| 115194232 | SALTR88980 | |||
| 115600893 | STRHB08278 | |||
| 116437904 | CORMO28307 |
