| Identification |
|---|
| HMDB Protein ID
| CDBP03899 |
| Secondary Accession Numbers
| Not Available |
| Name
| Hemojuvelin |
| Description
| Not Available |
| Synonyms
|
- Hemochromatosis type 2 protein
- RGM domain family member C
|
| Gene Name
| HFE2 |
| Protein Type
| Enzyme |
| Biological Properties |
|---|
| General Function
| Not Available |
| Specific Function
| Member of the repulsive guidance molecule (RGM) family. Involved in iron metabolism. Acts as a bone morphogenetic protein (BMP) coreceptor. Enhancement of BMP signaling regulates hepcidin (HAMP) expression and iron metabolism. May cooperate with hepcidin to restrict iron absorption in the gut. Could represent the cellular receptor for hepcidin |
| GO Classification
|
Not Available
|
| Cellular Location
|
- Cell membrane
- Lipid-anchor
- GPI-anchor
|
| Pathways
|
Not Available
|
| Gene Properties |
|---|
| Chromosome Location
| Chromosome:1 |
| Locus
| 1q21.1 |
| SNPs
| HFE2 |
| Gene Sequence
|
>1281 bp
ATGGGGGAGCCAGGCCAGTCCCCTAGTCCCAGGTCCTCCCATGGCAGTCCCCCAACTCTA
AGCACTCTCACTCTCCTGCTGCTCCTCTGTGGACATGCTCATTCTCAATGCAAGATCCTC
CGCTGCAATGCTGAGTACGTATCGTCCACTCTGAGCCTTAGAGGTGGGGGTTCATCAGGA
GCACTTCGAGGAGGAGGAGGAGGAGGCCGGGGTGGAGGGGTGGGCTCTGGCGGCCTCTGT
CGAGCCCTCCGCTCCTATGCGCTCTGCACTCGGCGCACCGCCCGCACCTGCCGCGGGGAC
CTCGCCTTCCATTCGGCGGTACATGGCATCGAAGACCTGATGATCCAGCACAACTGCTCC
CGCCAGGGCCCTACAGCCCCTCCCCCGCCCCGGGGCCCCGCCCTTCCAGGCGCGGGCTCC
GGCCTCCCTGCCCCGGACCCTTGTGACTATGAAGGCCGGTTTTCCCGGCTGCATGGTCGT
CCCCCGGGGTTCTTGCATTGCGCTTCCTTCGGGGACCCCCATGTGCGCAGCTTCCACCAT
CACTTTCACACATGCCGTGTCCAAGGAGCTTGGCCTCTACTGGATAATGACTTCCTCTTT
GTCCAAGCCACCAGCTCCCCCATGGCGTTGGGGGCCAACGCTACCGCCACCCGGAAGCTC
ACCATCATATTTAAGAACATGCAGGAATGCATTGATCAGAAGGTGTATCAGGCTGAGGTG
GATAATCTTCCTGTAGCCTTTGAAGATGGTTCTATCAATGGAGGTGACCGACCTGGGGGA
TCCAGTTTGTCGATTCAAACTGCTAACCCTGGGAACCATGTGGAGATCCAAGCTGCCTAC
ATTGGCACAACTATAATCATTCGGCAGACAGCTGGGCAGCTCTCCTTCTCCATCAAGGTA
GCAGAGGATGTGGCCATGGCCTTCTCAGCTGAACAGGACCTGCAGCTCTGTGTTGGGGGG
TGCCCTCCAAGTCAGCGACTCTCTCGATCAGAGCGCAATCGTCGGGGAGCTATAACCATT
GATACTGCCAGACGGCTGTGCAAGGAAGGGCTTCCAGTGGAAGATGCTTACTTCCATTCC
TGTGTCTTTGATGTTTTAATTTCTGGTGATCCCAACTTTACCGTGGCAGCTCAGGCAGCA
CTGGAGGATGCCCGAGCCTTCCTGCCAGACTTAGAGAAGCTGCATCTCTTCCCCTCAGAT
GCTGGGGTTCCTCTTTCCTCAGCAACCCTCTTAGCTCCACTCCTTTCTGGGCTCTTTGTT
CTGTGGCTTTGCATTCAGTAA
|
| Protein Properties |
|---|
| Number of Residues
| 426 |
| Molecular Weight
| 45079.7 |
| Theoretical pI
| 7.64 |
| Pfam Domain Function
|
|
| Signals
|
|
|
Transmembrane Regions
|
|
| Protein Sequence
|
>Hemojuvelin
MGEPGQSPSPRSSHGSPPTLSTLTLLLLLCGHAHSQCKILRCNAEYVSSTLSLRGGGSSG
ALRGGGGGGRGGGVGSGGLCRALRSYALCTRRTARTCRGDLAFHSAVHGIEDLMIQHNCS
RQGPTAPPPPRGPALPGAGSGLPAPDPCDYEGRFSRLHGRPPGFLHCASFGDPHVRSFHH
HFHTCRVQGAWPLLDNDFLFVQATSSPMALGANATATRKLTIIFKNMQECIDQKVYQAEV
DNLPVAFEDGSINGGDRPGGSSLSIQTANPGNHVEIQAAYIGTTIIIRQTAGQLSFSIKV
AEDVAMAFSAEQDLQLCVGGCPPSQRLSRSERNRRGAITIDTARRLCKEGLPVEDAYFHS
CVFDVLISGDPNFTVAAQAALEDARAFLPDLEKLHLFPSDAGVPLSSATLLAPLLSGLFV
LWLCIQ
|
| External Links |
|---|
| GenBank ID Protein
| 47458048 |
| UniProtKB/Swiss-Prot ID
| Q6ZVN8 |
| UniProtKB/Swiss-Prot Entry Name
| RGMC_HUMAN |
| PDB IDs
|
Not Available |
| GenBank Gene ID
| NM_213653.3 |
| GeneCard ID
| HFE2 |
| GenAtlas ID
| HFE2 |
| HGNC ID
| HGNC:4887 |
| References |
|---|
| General References
| Not Available |