Sequence Detail

ID/Version

Q3V1H3 (UniProt | EBI)

Last sequence update: 2008-09-02
Last annotation update: 2024-03-27

Sequence description from provider

RecName: Full=Ferroxidase HEPHL1 {ECO:0000250|UniProtKB:Q6MZM0}; EC=1.16.3.1 {ECO:0000250|UniProtKB:Q6MZM0};AltName: Full=Hephaestin-like protein 1 {ECO:0000250|UniProtKB:Q6MZM0};Flags: Precursor;

Provider

SWISS-PROT

Sequence

Polypeptide 1159 aa

Source

Organism mouse

See UniProt | EBI for source

Annotated genes and markers

Follow the symbol links to get more information on the GO terms, expression assays, orthologs, phenotypic alleles, and other information for the genes or markers below.

Type	Symbol	Name	GO Terms	Expression Assays	Orthologs	Phenotypic Alleles
Gene	Hephl1	hephaestin-like 1	11	100	4	9

Sequence references in MGI

J:99680 The FANTOM Consortium and RIKEN Genome Exploration Research Group and Genome Science Group (Genome Network Project Core Group), The Transcriptional Landscape of the Mammalian Genome. Science. 2005;309(5740):1559-1563
J:275660 Sharma P, et al., Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype. PLoS Genet. 2019 May;15(5):e1008143
J:276072 Eragene S, et al., The mouse curly whiskers (cw) mutations are recessive alleles of hephaestin-like 1 (Hephl1). Mol Genet Metab Rep. 2019 Sep;20:100478