| Identification |
|---|
| HMDB Protein ID
| CDBP03461 |
| Secondary Accession Numbers
| Not Available |
| Name
| Hephaestin |
| Description
| Not Available |
| Synonyms
|
Not Available
|
| Gene Name
| HEPH |
| Protein Type
| Metal Binding |
| Biological Properties |
|---|
| General Function
| Involved in copper ion binding |
| Specific Function
| May function as a ferroxidase for ferrous (II) to ferric ion (III) conversion and may be involved in copper transport and homeostasis. Implicated in iron homeostasis and may mediate iron efflux associated to ferroportin 1 |
| GO Classification
|
| Function |
| ion binding |
| cation binding |
| metal ion binding |
| binding |
| catalytic activity |
| transition metal ion binding |
| oxidoreductase activity |
| copper ion binding |
| Process |
| metabolic process |
| oxidation reduction |
|
| Cellular Location
|
- Membrane
- Single-pass type I membrane protein (Potential)
|
| Pathways
|
Not Available
|
| Gene Properties |
|---|
| Chromosome Location
| Not Available |
| Locus
| Not Available |
| SNPs
| HEPH |
| Gene Sequence
|
>3477 bp
ATGGAGTCAGGCCACCTCCTCTGGGCTCTGCTGTTCATGCAGTCCTTGTGGCCTCAACTG
ACTGATGGAGCCACTCGAGTCTACTACCTGGGCATCCGGGATGTGCAGTGGAACTATGCT
CCCAAGGGAAGAAATGTCATCACGAACCAGCCTCTGGACAGTGACATAGTGGCTTCCAGC
TTCTTAAAGTCTGACAAGAACCGGATAGGGGGAACCTACAAGAAGACCATCTATAAAGAA
TACAAGGATGACTCATACACAGATGAAGTGGCCCAGCCTGCCTGGTTGGGCTTCCTGGGG
CCAGTGTTGCAGGCTGAAGTGGGGGATGTCATTCTTATTCACCTGAAGAATTTTGCCACT
CGTCCCTATACCATCCACCCTCATGGTGTCTTCTACGAGAAGGACTCTGAAGGTTCCCTA
TACCCAGATGGCTCCTCTGGGCCACTGAAAGCTGATGACTCTGTTCCCCCGGGGGGCAGC
CATATCTACAACTGGACCATTCCAGAAGGCCATGCACCCACCGATGCTGACCCAGCGTGC
CTCACCTGGATCTACCATTCTCATGTAGATGCTCCACGAGACATTGCAACTGGCCTAATT
GGGCCTCTCATCACCTGTAAAAGAGGAGCCCTGGATGGGAACTCCCCTCCTCAACGCCAG
GATGTAGACCATGATTTCTTCCTCCTCTTCAGTGTGGTAGATGAGAACCTCAGCTGGCAT
CTCAATGAGAACATTGCCACTTACTGCTCAGATCCTGCTTCAGTGGACAAAGAAGATGAG
ACATTTCAGGAGAGCAATAGGATGCATGCAATCAATGGCTTTGTTTTTGGGAATTTACCT
GAGCTGAACATGTGTGCACAGAAACGTGTGGCCTGGCACTTGTTTGGCATGGGCAATGAA
ATTGATGTCCACACAGCATTTTTCCATGGACAGATGCTGACTACCCGTGGACACCACACT
GATGTGGCTAACATCTTTCCAGCCACCTTTGTGACTGCTGAGATGGTGCCCTGGGAACCT
GGTACCTGGTTAATTAGCTGCCAAGTGAACAGTCACTTTCGAGATGGCATGCAGGCACTC
TACAAGGTCAAGTCTTGCTCCATGGCCCCTCCTGTGGACCTGCTCACAGGCAAAGTTCGA
CAGTACTTCATTGAGGCCCATGAGATTCAATGGGACTATGGCCCGATGGGGCATGATGGG
AGTACTGGGAAGAATTTGAGAGAGCCAGGCAGTATCTCAGATAAGTTTTTCCAGAAGAGC
TCCAGCCGAATTGGGGGCACTTACTGGAAAGTGCGATATGAAGCCTTTCAAGATGAGACA
TTCCAAGAGAAGATGCATTTGGAGGAAGATAGGCATCTTGGAATCCTGGGGCCAGTGATC
CGGGCTGAGGTGGGTGACACCATTCAGGTGGTCTTCTACAACCGTGCCTCCCAGCCATTC
AGCATGCAGCCCCATGGGGTCTTTTATGAGAAAGACTATGAAGGCACTGTGTACAATGAT
GGCTCATCTTACCCTGGCTTGGTTGCCAAGCCCTTTGAGAAAGTAACATACCGCTGGACA
GTCCCCCCTCATGCCGGTCCCACTGCTCAGGATCCTGCTTGTCTCACTTGGATGTACTTC
TCTGCTGCAGATCCCATAAGAGACACAAATTCTGGCCTGGTGGGCCCGCTGCTGGTGTGC
AGGGCTGGTGCCTTGGGTGCAGATGGCAAGCAGAAAGGGGTGGATAAAGAATTCTTTCTT
CTCTTCACTGTGTTGGATGAGAACAAGAGCTGGTACAGCAATGCCAATCAAGCAGCTGCT
ATGTTGGATTTCCGACTGCTTTCAGAGGATATTGAGGGCTTCCAAGACTCCAATCGGATG
CATGCCATTAATGGGTTTCTGTTCTCTAACCTGCCCAGGCTGGACATGTGCAAGGGTGAC
ACAGTGGCCTGGCACCTGCTCGGCCTGGGCACAGAGACTGATGTGCATGGAGTCATGTTC
CAGGGCAACACTGTGCAGCTTCAGGGCATGAGGAAGGGTGCAGCTATGCTCTTTCCTCAT
ACCTTTGTCATGGCCATCATGCAGCCTGACAACCTTGGGACATTTGAGATTTATTGCCAG
GCAGGCAGCCATCGAGAAGCAGGGATGAGGGCAATCTATAATGTCTCCCAGTGTCCTGGC
CACCAAGCCACCCCTCGCCAACGCTACCAAGCTGCAAGAATCTACTATATCATGGCAGAA
GAAGTAGAGTGGGACTATTGCCCTGACCGGAGCTGGGAACGGGAATGGCACAACCAGTCT
GAGAAGGACAGTTATGGTTACATTTTCCTGAGCAACAAGGATGGGCTCCTGGGTTCCAGA
TACAAGAAAGCTGTATTCAGGGAATACACTGATGGTACATTCAGGATCCCTCGGCCAAGG
ACTGGACCAGAAGAACACTTGGGAATCTTGGGTCCACTTATCAAAGGTGAAGTTGGTGAT
ATCCTGACTGTGGTATTCAAGAATAATGCCAGCCGCCCCTACTCTGTGCATGCTCATGGA
GTGCTAGAATCTACTACTGTCTGGCCACTGGCTGCTGAGCCTGGTGAGGTGGTCACTTAT
CAGTGGAACATCCCAGAGAGGTCTGGCCCTGGGCCCAATGACTCTGCTTGTGTTTCCTGG
ATCTATTATTCTGCAGTGGATCCCATCAAGGACATGTATAGTGGCCTGGTGGGGCCCTTG
GCTATCTGCCAAAAGGGCATCCTGGAGCCCCATGGAGGACGGAGTGACATGGATCGGGAA
TTTGCATTGTTGTTCTTGATTTTTGATGAAAATAAGTCTTGGTATTTGGAGGAAAATGTG
GCAACCCATGGGTCCCAGGATCCAGGCAGTATTAACCTACAGGATGAAACTTTCTTGGAG
AGCAATAAAATGCATGCAATCAATGGGAAACTCTATGCCAACCTTAGGGGTCTTACCATG
TACCAAGGAGAACGAGTGGCCTGGTACATGCTGGCCATGGGCCAAGATGTGGATCTACAC
ACCATCCACTTTCATGCAGAGAGCTTCCTCTATCGGAATGGCGAGAACTACCGGGCAGAT
GTGGTGGATCTGTTCCCAGGGACTTTTGAGGTTGTGGAGATGGTGGCCAGCAACCCTGGG
ACATGGCTGATGCACTGCCATGTGACTGACCATGTCCATGCTGGCATGGAGACCCTCTTC
ACTGTTTTTTCTCGAACAGAACACTTAAGCCCTCTCACCGTCATCACCAAAGAGACTGAA
AAAGCAGTGCCCCCCAGAGACATTGAAGAAGGCAATGTGAAGATGCTGGGCATGCAGATC
CCCATAAAGAATGTTGAGATGCTGGCCTCTGTTTTGGTTGCCATTAGTGTCACCCTTCTG
CTCGTTGTTCTGGCTCTTGGTGGAGTGGTTTGGTACCAACATCGACAGAGAAAGCTACGA
CGCAATAGGAGGTCCATCCTGGATGACAGCTTCAAGCTTCTGTCTTTCAAACAGTAA
|
| Protein Properties |
|---|
| Number of Residues
| 1158 |
| Molecular Weight
| 130447.8 |
| Theoretical pI
| 5.89 |
| Pfam Domain Function
|
|
| Signals
|
|
|
Transmembrane Regions
|
|
| Protein Sequence
|
>Hephaestin
MESGHLLWALLFMQSLWPQLTDGATRVYYLGIRDVQWNYAPKGRNVITNQPLDSDIVASS
FLKSDKNRIGGTYKKTIYKEYKDDSYTDEVAQPAWLGFLGPVLQAEVGDVILIHLKNFAT
RPYTIHPHGVFYEKDSEGSLYPDGSSGPLKADDSVPPGGSHIYNWTIPEGHAPTDADPAC
LTWIYHSHVDAPRDIATGLIGPLITCKRGALDGNSPPQRQDVDHDFFLLFSVVDENLSWH
LNENIATYCSDPASVDKEDETFQESNRMHAINGFVFGNLPELNMCAQKRVAWHLFGMGNE
IDVHTAFFHGQMLTTRGHHTDVANIFPATFVTAEMVPWEPGTWLISCQVNSHFRDGMQAL
YKVKSCSMAPPVDLLTGKVRQYFIEAHEIQWDYGPMGHDGSTGKNLREPGSISDKFFQKS
SSRIGGTYWKVRYEAFQDETFQEKMHLEEDRHLGILGPVIRAEVGDTIQVVFYNRASQPF
SMQPHGVFYEKDYEGTVYNDGSSYPGLVAKPFEKVTYRWTVPPHAGPTAQDPACLTWMYF
SAADPIRDTNSGLVGPLLVCRAGALGADGKQKGVDKEFFLLFTVLDENKSWYSNANQAAA
MLDFRLLSEDIEGFQDSNRMHAINGFLFSNLPRLDMCKGDTVAWHLLGLGTETDVHGVMF
QGNTVQLQGMRKGAAMLFPHTFVMAIMQPDNLGTFEIYCQAGSHREAGMRAIYNVSQCPG
HQATPRQRYQAARIYYIMAEEVEWDYCPDRSWEREWHNQSEKDSYGYIFLSNKDGLLGSR
YKKAVFREYTDGTFRIPRPRTGPEEHLGILGPLIKGEVGDILTVVFKNNASRPYSVHAHG
VLESTTVWPLAAEPGEVVTYQWNIPERSGPGPNDSACVSWIYYSAVDPIKDMYSGLVGPL
AICQKGILEPHGGRSDMDREFALLFLIFDENKSWYLEENVATHGSQDPGSINLQDETFLE
SNKMHAINGKLYANLRGLTMYQGERVAWYMLAMGQDVDLHTIHFHAESFLYRNGENYRAD
VVDLFPGTFEVVEMVASNPGTWLMHCHVTDHVHAGMETLFTVFSRTEHLSPLTVITKETE
KAVPPRDIEEGNVKMLGMQIPIKNVEMLASVLVAISVTLLLVVLALGGVVWYQHRQRKLR
RNRRSILDDSFKLLSFKQ
|
| External Links |
|---|
| GenBank ID Protein
| 12830539 |
| UniProtKB/Swiss-Prot ID
| Q9BQS7 |
| UniProtKB/Swiss-Prot Entry Name
| HEPH_HUMAN |
| PDB IDs
|
Not Available |
| GenBank Gene ID
| AF148860 |
| GeneCard ID
| HEPH |
| GenAtlas ID
| HEPH |
| HGNC ID
| HGNC:4866 |
| References |
|---|
| General References
| Not Available |