| Identification |
|---|
| HMDB Protein ID
| CDBP01532 |
| Secondary Accession Numbers
| Not Available |
| Name
| Hereditary hemochromatosis protein |
| Description
| Not Available |
| Synonyms
|
- HLA-H
|
| Gene Name
| HFE |
| Protein Type
| Enzyme |
| Biological Properties |
|---|
| General Function
| Involved in immune response |
| Specific Function
| Binds to transferrin receptor (TFR) and reduces its affinity for iron-loaded transferrin |
| GO Classification
|
| Component |
| membrane |
| cell part |
| macromolecular complex |
| protein complex |
| mhc protein complex |
| mhc class i protein complex |
| Process |
| antigen processing and presentation |
| immune system process |
| immune response |
|
| Cellular Location
|
- Membrane
- Single-pass type I membrane protein
|
| Pathways
|
Not Available
|
| Gene Properties |
|---|
| Chromosome Location
| Chromosome:6 |
| Locus
| 6p21.3 |
| SNPs
| HFE |
| Gene Sequence
|
>1047 bp
ATGGGCCCGCGAGCCAGGCCGGCGCTTCTCCTCCTGATGCTTTTGCAGACCGCGGTCCTG
CAGGGGCGCTTGCTGCGTTCACACTCTCTGCACTACCTCTTCATGGGTGCCTCAGAGCAG
GACCTTGGTCTTTCCTTGTTTGAAGCTTTGGGCTACGTGGATGACCAGCTGTTCGTGTTC
TATGATCATGAGAGTCGCCGTGTGGAGCCCCGAACTCCATGGGTTTCCAGTAGAATTTCA
AGCCAGATGTGGCTGCAGCTGAGTCAGAGTCTGAAAGGGTGGGATCACATGTTCACTGTT
GACTTCTGGACTATTATGGAAAATCACAACCACAGCAAGGAGTCCCACACCCTGCAGGTC
ATCCTGGGCTGTGAAATGCAAGAAGACAACAGTACCGAGGGCTACTGGAAGTACGGGTAT
GATGGGCAGGACCACCTTGAATTCTGCCCTGACACACTGGATTGGAGAGCAGCAGAACCC
AGGGCCTGGCCCACCAAGCTGGAGTGGGAAAGGCACAAGATTCGGGCCAGGCAGAACAGG
GCCTACCTGGAGAGGGACTGCCCTGCACAGCTGCAGCAGTTGCTGGAGCTGGGGAGAGGT
GTTTTGGACCAACAAGTGCCTCCTTTGGTGAAGGTGACACATCATGTGACCTCTTCAGTG
ACCACTCTACGGTGTCGGGCCTTGAACTACTACCCCCAGAACATCACCATGAAGTGGCTG
AAGGATAAGCAGCCAATGGATGCCAAGGAGTTCGAACCTAAAGACGTATTGCCCAATGGG
GATGGGACCTACCAGGGCTGGATAACCTTGGCTGTACCCCCTGGGGAAGAGCAGAGATAT
ACGTGCCAGGTGGAGCACCCAGGCCTGGATCAGCCCCTCATTGTGATCTGGGAGCCCTCA
CCGTCTGGCACCCTAGTCATTGGAGTCATCAGTGGAATTGCTGTTTTTGTCGTCATCTTG
TTCATTGGAATTTTGTTCATAATATTAAGGAAGAGGCAGGGTTCAAGAGGAGCCATGGGG
CACTACGTCTTAGCTGAACGTGAGTGA
|
| Protein Properties |
|---|
| Number of Residues
| 348 |
| Molecular Weight
| 40107.7 |
| Theoretical pI
| 6.57 |
| Pfam Domain Function
|
|
| Signals
|
|
|
Transmembrane Regions
|
|
| Protein Sequence
|
>Hereditary hemochromatosis protein
MGPRARPALLLLMLLQTAVLQGRLLRSHSLHYLFMGASEQDLGLSLFEALGYVDDQLFVF
YDHESRRVEPRTPWVSSRISSQMWLQLSQSLKGWDHMFTVDFWTIMENHNHSKESHTLQV
ILGCEMQEDNSTEGYWKYGYDGQDHLEFCPDTLDWRAAEPRAWPTKLEWERHKIRARQNR
AYLERDCPAQLQQLLELGRGVLDQQVPPLVKVTHHVTSSVTTLRCRALNYYPQNITMKWL
KDKQPMDAKEFEPKDVLPNGDGTYQGWITLAVPPGEEQRYTCQVEHPGLDQPLIVIWEPS
PSGTLVIGVISGIAVFVVILFIGILFIILRKRQGSRGAMGHYVLAERE
|
| External Links |
|---|
| GenBank ID Protein
| 4504377 |
| UniProtKB/Swiss-Prot ID
| Q30201 |
| UniProtKB/Swiss-Prot Entry Name
| HFE_HUMAN |
| PDB IDs
|
|
| GenBank Gene ID
| NM_000410.3 |
| GeneCard ID
| HFE |
| GenAtlas ID
| HFE |
| HGNC ID
| HGNC:4886 |
| References |
|---|
| General References
| Not Available |