Hps3
entrez
12807
canonical
uniprot
Q91VB4
canonical
ensembl
ENSMUSG00000027615
resolver
ensp
ENSMUSP00000012580
resolver
ensp
ENSMUSP00000103957
resolver
ensp
ENSMUSP00000293582
resolver
ensp
ENSMUSP00000293583
resolver
ensp
ENSMUSP00000293590
resolver
ensp
ENSMUSP00000293591
resolver
enst
ENSMUST00000012580
resolver
enst
ENSMUST00000108321
resolver
genesymbol
Hps3
resolver
genesymbol_syn
Coa
resolver
uniprot
E9PZY1
resolver
uniprot
Q6GTD8
resolver
uniprot
Q8BZ55
resolver
uniprot
Q8VDX2
resolver
uniprot
Q8VHT1
resolver
uniprot_entry
E9PZY1_MOUSE
resolver
uniprot_entry
HPS3_MOUSE
resolver
uniprot_entry
Q8BZ55_MOUSE
resolver
uniprot_sec
Q6GTD8
resolver
uniprot_sec
Q8VDX2
resolver
uniprot_sec
Q8VHT1
resolver
amino_acid_sequence
MVRLYNLHPFGSQQVVPCQWEPEQVCCGGSDALFVAAGCKVEAFAVQGEELCRQRCAFSTLGRVLRMAYSEAGDYLVAIEEKNKTIFLRAYVNWRSKRSDNSRVCIRMVGHNVEASFCESFRDQMSIIEMPMSEAPLCFSCCPVKGDLLVGCTNKLVLFTLKYDIINEEFSILNFERSLIIHIDNITPVEISFCVGYVAVMSDLEVLLLKLESDPIHGESVDHHPQETSNPLKEAEGVSNETSQLESEDFVICLKPMELIGEKCEQSGISVKLESTGLEDEKVKYLRVRHLLYRRFAPDISSYVLSDNIKLHSLQLLPIHQSGFHPDENDLSPKKEMPNLFCFFSLPHVGYLYMVVKSVELMSVYWYPEKSQQAVLTPQFLHVITSQSLQCFTVRCSAAVAHEEDLYMDTTLKACPPVSMDVCALRIQLFIGLKAICHFKNHIILLTKAEPEAIPERRESPKKLISRKDASVRSGTPHVAEAAWNLYLVNTTAPVQLYKEMVDYSNSYKTVKTESCLHLLSEAHLLVRAALMDGSQLEPAEKAELLEAFKESCGHLGDCYSRLTTEQSHLALPYYKMSGLSLAEVLARVDWTEESESQKYERGLVFYINHSLYENLDEELSKELAAKVAQIFHMAEPKQLPHVLSSPSMKNIDPLTALHYLRKLDSCGVSPVLVTLTKAAVALKMGDLDMYRNEMKSHSEMKLVYGFILEPRLLIQQWKGQIVPTELAIDLKETQPGLLVASVLGLQKNDKIGIVETDSFFKVLCGKDEDAVPQLLIDFWEAQLVACLPNVVLEELFFKLISQYVWRLSERRCPDTVPLRTAEDLINACSHYGLVNPWVHVLTTSDSLADKNYTDDLLKLQSLICSPSLDVASIIPFLEPLSEDTVAGLSTHALCHTRLQEYEQCIDTLLERCPEAVIAYANQELKEDHWILWWKKLLPELCQRVKSGGERSHLHLSLLKETLSVIAVGLDLRDFLNVLPEDGAAAFFLPYLLFCSRKKSLT
uniprot
proteins
disease_involvement
DISEASE: Note=Defects in Hps3 are the cause of the cocoa (coa) mutant, which is characterized by hypopigmentation and platelet dysfunction (PubMed:11707070). {ECO:0000269|PubMed:11707070}.
uniprot
proteins
function
FUNCTION: Involved in early stages of melanosome biogenesis and maturation. {ECO:0000269|PubMed:11707070}.
uniprot
proteins
mass_dalton
113182
uniprot
proteins
pubmed
11592818
uniprot
proteins
pubmed
11707070
uniprot
proteins
pubmed
15489334
uniprot
proteins
sequence_length
1002
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:11707070}. Cytoplasm, cytosol {ECO:0000250|UniProtKB:Q969F9}.
uniprot
proteins