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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Hemojuvelin
Summary
- UniProt ID
- Q6ZVN8
- Gene Symbol
-
- HJV
- HFE2
- RGMC
- Organism
- Homo sapiens (human)
External Links
- GlyGen
- Q6ZVN8
- PubChem
- Q6ZVN8
- The Human Metabolome Database
- HMDBP08689
- The O-GlcNAc Database
- Q6ZVN8
Annotation
- Keyword
-
- 3D-structure
- Alternative splicing
- Autocatalytic cleavage
- Cell membrane
- Disease variant
- Disulfide bond
- GPI-anchor
- Phosphoprotein
- Reference proteome
- Signal
- Gene Ontology (GO)
| GO Term |
|---|
| extracellular space |
| plasma membrane |
| plasma membrane protein complex |
| HFE-transferrin receptor complex |
| cell surface |
| side of membrane |
| BMP receptor complex |
| GO Term |
|---|
| signaling receptor binding |
| coreceptor activity |
| BMP binding |
| transferrin receptor binding |
Sequence
MGEPGQSPSPRSSHGSPPTLSTLTLLLLLCGHAHSQCKILRCNAEYVSSTLSLRGGGSSGALRGGGGGGRGGGVGSGGLCRALRSYALCTRRTARTCRGDLAFHSAVHGIEDLMIQHNCSRQGPTAPPPPRGPALPGAGSGLPAPDPCDYEGRFSRLHGRPPGFLHCASFGDPHVRSFHHHFHTCRVQGAWPLLDNDFLFVQATSSPMALGANATATRKLTIIFKNMQECIDQKVYQAEVDNLPVAFEDGSINGGDRPGGSSLSIQTANPGNHVEIQAAYIGTTIIIRQTAGQLSFSIKVAEDVAMAFSAEQDLQLCVGGCPPSQRLSRSERNRRGAITIDTARRLCKEGLPVEDAYFHSCVFDVLISGDPNFTVAAQAALEDARAFLPDLEKLHLFPSDAGVPLSSATLLAPLLSGLFVLWLCIQ
Glycosylation Sites
G49108TO
Feature
: Glycosylation Site from GlyGen
: Glycosylation Site from UniProt
Pathway
| Pathway Name | Organism |
|---|---|
| Netrin-1 signaling | Homo sapiens |
Disease
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0050328 | congenital hypothyroidism | |
| DOID:0050700 | cardiomyopathy | |
| DOID:0050908 | myelodysplastic syndrome | |
| DOID:0060870 | isolated growth hormone deficiency | |
| DOID:0060872 | isolated growth hormone deficiency type II | |
| DOID:0060873 | isolated growth hormone deficiency type IA | |
| DOID:0060874 | isolated growth hormone deficiency type IB | |
| DOID:0060875 | isolated growth hormone deficiency type III | |
| DOID:0070122 | Meckel syndrome 8 | |
| DOID:0070123 | congenital nongoitrous hypothyroidism 4 |
