Hephl1
entrez
244698
canonical
uniprot
Q3V1H3
canonical
ensembl
ENSMUSG00000031936
resolver
ensp
ENSMUSP00000124518
resolver
enst
ENSMUST00000159985
resolver
genesymbol
Hephl1
resolver
genesymbol_syn
Gm509
resolver
uniprot_entry
HPHL1_MOUSE
resolver
amino_acid_sequence
MFLKQPGGCILLQFLGLLGLVGAVTRTYYIGIVEEYWNYVPQGKDVITGKSFSEDKLATLFLERGPNRIGGIYKKAVYRHFTDGSYSTEIPKPPWLGFLGPILRAEVGDVIVIHLMNFASRPFSLHPHGVFYDKDSEGALYPDGTSGRNKEDDMVPPGKNYTYVWPVREEYAPAPADANCLTWVYHSHIDAPKDICSGLIGPLLVCKEGVLNRYSGMRTDVDREFVIMFTLVDENQSWYLDDNIKQFCTNPNSVDKSDAVFQRSNKMHALNGFLFGNMPEPEMCVGESVSWHLFGMGNEIDIHSIYFYGNTFITRGHRADVVNLFPATFLTTEMIVENPGKWMITCQVSDHLQAGMLGQYSVGNCRGNAPHPKVQGQQRRYFIAAEKVLWDYGPQGYDKFTGFPLNTSGSDSAVYFTQADNRIGGKYWKARYTEYVDATFSRRKMPSDSEAHLGILGPVIKAEVGDILLVTFANKADKVYSILPHGVFYDKASDAAPNVDGFLKPGAHVKPGETFTYRWTVPESVSPTDEDPPCLTYLYFSAVQPIKDTSAGLVGPLLVCKKGTLNADGTQKGIDKEFYLLFTVFDENFSSYLDENIKKFTWHPFSVDKEDKEFVKSNRMHAVNGYMYGSQPGLSMCKKDRVSWHLIGMGTDTDMHGVYFQGNTIHLRGTHRDSLALFPHMATTAYMQPDHSGIFKVFCSTLPHFTRGMGQIYEISSCGNRDPSEPPYGMLRTFFIAAEEVEWDYAPNKNWEFEKQHLDAGGERHGDIFMNHTENWIGSQYRKVVYREYTNGEFVEIKARPPQEEHLQLLGPMIHAEVGDSILIIFKNKASRPYSIAAQGVEDSNNGKLLNVPVTKPGEIKTYRWNVPKRSGPGPSDPNCIPWVYFSTANFVKDTYSGLMGPLITCREGVLNEKGRRSDVDYEFALLFLVFNENESWYLDDNIKKYLNKDPRDFKHTDDFEESNKMHAINGKIFGNLPGLIMTEDSMTNWYLLGIGSEVDIHTIHYHAESFLFKIDKSYREDVYDLFPGTFQTIELFADHPGTWLLHCHVSDHIHAGMETTYTVLRNIDNRIPYSTKTPSGAGSHAVTVPSQEQPGKEELYFFGKNLRPRGAKAALVILFILGLLLLVATVVLALRLRSSRRQMAYREVQSCALPTDAL
uniprot
proteins
disease_involvement
DISEASE: Note=Defects in HEPHL1 are the cause of the curly whiskers phenotype (cw). Curly whiskers mice carry a recessive mutation that alters splicing and causes omission of exon 11 from the mature transcript. The cw phenotype is characterized by kinky, brittle vibrissae. {ECO:0000269|PubMed:31293895}.
uniprot
proteins
ec_number
1.16.3.1
uniprot
proteins
function
FUNCTION: Is a copper-binding glycoprotein with ferroxidase activity. It oxidizes Fe(2+) to Fe(3+) without releasing radical oxygen species. May be involved in the regulation of intracellular iron content. {ECO:0000250|UniProtKB:Q6MZM0}.
uniprot
proteins
mass_dalton
130888
uniprot
proteins
protein_family
Multicopper oxidase family
uniprot
proteins
pubmed
16141072
uniprot
proteins
pubmed
19468303
uniprot
proteins
pubmed
31125343
uniprot
proteins
pubmed
31293895
uniprot
proteins
sequence_length
1159
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
uniprot
proteins
transmembrane_region
TRANSMEM 1115..1135; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins