UniProt Protein Function: | Essential for synapsis surveillance during meiotic prophase via the recruitment of ATR activity. Plays a key role in the male mid-pachytene checkpoint and the female meiotic prophase checkpoint: required for efficient build-up of ATR activity on unsynapsed chromosome regions, a process believed to form the basis of meiotic silencing of unsynapsed chromatin (MSUC) and meiotic prophase quality control in both sexes. Required for the DNA double-strand break-independent, BRCA1-dependent activation of ATR on the sex chromosomes that is essential for normal sex body formation (). |
UniProt Protein Details: | |
NCBI Summary: | This gene encodes a member of the multicopper oxidase protein family. The encoded protein is involved in the transport of dietary iron from epithelial cells of the intestinal lumen into the circulatory system, and may be involved in copper transport and homeostasis. In mouse, defects in this gene can lead to severe microcytic anemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] |
UniProt Code: | Q8N7B1 |
NCBI GenInfo Identifier: | 15079444 |
NCBI Gene ID: | 9843 |
NCBI Accession: | BC011561 |
UniProt Secondary Accession: | Q8N7B1,O75180, Q6UW45, Q9C058, B1AJX8, D3DVT7, E9PHN8 |
UniProt Related Accession: | Q8N7B1,Q9BQS7 |
Molecular Weight: | 100,624 Da |
NCBI Full Name: | Homo sapiens hephaestin, mRNA |
NCBI Synonym Full Names: | hephaestin |
NCBI Official Symbol: | HEPHÂ Â |
NCBI Official Synonym Symbols: | CPLÂ Â |
NCBI Protein Information: | hephaestin |
UniProt Protein Name: | HORMA domain-containing protein 2 |
UniProt Synonym Protein Names: | |
Protein Family: | Hephaestin |
UniProt Gene Name: | HORMAD2Â Â |
UniProt Entry Name: | |