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Analysis of the human hephaestin gene and protein: comparative modelling of the N-terminus ecto-domain based upon ceruloplasmin
- Source :
- Protein Engineering, Design and Selection. 15:205-214
- Publication Year :
- 2002
- Publisher :
- Oxford University Press (OUP), 2002.
-
Abstract
- Hephaestin was implicated in mammalian iron homeostasis following its identification as the defective gene in murine sex-linked anaemia. It is a member of the family of copper oxidases that includes mammalian ceruloplasmin, factors V and VIII, yeast fet3 and fet5 and bacterial ascorbate oxidase. Hephaestin is different from ceruloplasmin, a soluble ferroxidase, in having a membrane-spanning region towards the C-terminus. Here we report the gene structure, spanning approximately 100 kb, of the human homologue of mouse hephaestin. The sequence was assembled from the cDNA clones and the chromosome X genomic sequence data available at the Sanger Centre. It has an open reading frame that encodes a protein of 1158 residues, 85% identical with the murine homologue. A model of the N-terminal ecto-domain has been built based on the known three-dimensional structure of human ceruloplasmin. The overall tertiary structure for the hephaestin and the putative residues involved in binding copper and iron appear to be highly conserved between these proteins, which suggests they share the same fold and a conserved function.
- Subjects :
- Models, Molecular
Hephaestin
Iron
Molecular Sequence Data
Bioengineering
Biochemistry
Structure-Activity Relationship
Complementary DNA
Humans
Molecular Biology
Gene
X chromosome
Binding Sites
Base Sequence
biology
Ceruloplasmin
Membrane Proteins
Molecular biology
Protein tertiary structure
Protein Structure, Tertiary
N-terminus
Open reading frame
biology.protein
Sequence Alignment
Copper
Biotechnology
Subjects
Details
- ISSN :
- 17410134 and 17410126
- Volume :
- 15
- Database :
- OpenAIRE
- Journal :
- Protein Engineering, Design and Selection
- Accession number :
- edsair.doi.dedup.....9fe18408f60f9938089448a6c92f21f1