Ap3b1
entrez
11774
canonical
uniprot
Q9Z1T1
canonical
ensembl
ENSMUSG00000021686
resolver
ensp
ENSMUSP00000022196
resolver
ensp
ENSMUSP00000161695
resolver
ensp
ENSMUSP00000161696
resolver
enst
ENSMUST00000022196
resolver
genesymbol
Ap3b1
resolver
uniprot
E9QQ08
resolver
uniprot
Q3TQ07
resolver
uniprot
Q3UPG0
resolver
uniprot
Q91YR4
resolver
uniprot_entry
AP3B1_MOUSE
resolver
uniprot_entry
Q3TQ07_MOUSE
resolver
uniprot_entry
Q3UPG0_MOUSE
resolver
uniprot_sec
E9QQ08
resolver
uniprot_sec
Q91YR4
resolver
amino_acid_sequence
MSSNSFAYNEQSGGGEAAELGQEATSTISPSGAFGLFSSDWKKNEDLKQMLESNKDSAKLDAMKRIVGMIAKGKNASELFPAVVKNVASKNIEIKKLVYVYLVRYAEEQQDLALLSISTFQRALKDPNQLIRASALRVLSSIRVPIIVPVMMLAIKEASADLSPYVRKNAAHAIQKLYSLDPEQKEMLIEVIEKLLKDKSTLVAGSVVMAFEEVCPDRIDLIHRNYRKLCNLLVDVEEWGQVVIIHMLTRYARTQFVSPWREDGGLEDNEKNFYESEEEEEEKEKSSRKKSYAMDPDHRLLIRNTKPLLQSRNAAVVMAVAQLYWHISPKSEAGVISKSLVRLLRSNREVQYIVLQNIATMSIERKGMFEPYLKSFYVRSTDPTMIKTLKLEILTNLANEANISTLLREFQTYVRSQDKQFAAATIQTIGRCATSISEVTDTCLNGLVCLLSNRDEIVVAESVVVIKKLLQMQPAQHGEIIRHMAKLLDSITVPVARASILWLIGENCERVPKIAPDVLRKMAKSFTSEDDLVKLQILNLAAKLYLTNSKQTKLLTQYILNLGKYDQNYDIRDRTRFIRQLIVPNEKSGALSKYAKKIFLAPKPAPLLESPFKDRDRFQLGTLSHTLNIKASGYLELSNWPEVAPDPSVRNVEVIESAKEWTPLGKTKKEKPMKKFYSESEEEEDEDEDEDEEEEEKEDEDENPSDSSSDSESGSGSESGDTGTEDSSEDSSSGQDSETGSQAEAERQKVAKRNSKTKRKSDSENREKKNENSKASESSSEESSSMEDSSSESESESGSDSEPAPRNVAPAKERKPQQERHPPSKDVFLLDLDDFNPVSTPVALPTPALSPSLIADLEGLNLSTSSSVINVSTPVFVPTKTHELLHRMHGKGLAAHYCFPRQPCIFSDKMVSVQITLTNTSDRKIENIHIGGKGLPVGMQMHAFHPIDSLEPKGSVTVSVGIDFCDSTQTASFQLCTKDDCFNVTLQPPVGELLSPVAMSEKDFKKEQGTLTGMNETSATLIAAPQNFTPSMILQKVVNVANLGAVPSSQDNVHRFAARTVHSGSLMLVTVELKEGSTAQLIINTEKTVIGSVLLRELKPVLSQG
uniprot
proteins
disease_involvement
DISEASE: Note=Defects in Ap3b1 are the cause of the autosomal recessive phenotype 'pearl' (pe). Pearl mice exhibit hypopigmentation, lysosomal secretion abnormalities, and platelet-dense granules with reduced levels of adenine nucleotides and serotonin. The changes in platelets lead to prolonged bleeding. Additionally, pearl mice exhibit reduced sensitivity in the dark-adapted state (PubMed:9931340). {ECO:0000269|PubMed:9931340}.
uniprot
proteins
function
FUNCTION: Subunit of non-clathrin- and clathrin-associated adaptor protein complex 3 (AP-3) that plays a role in protein sorting in the late-Golgi/trans-Golgi network (TGN) and/or endosomes. The AP complexes mediate both the recruitment of clathrin to membranes and the recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules. AP-3 appears to be involved in the sorting of a subset of transmembrane proteins targeted to lysosomes and lysosome-related organelles. In concert with the BLOC-1 complex, AP-3 is required to target cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals. {ECO:0000269|PubMed:21998198}.
uniprot
proteins
mass_dalton
122740
uniprot
proteins
post_translational_modification
PTM: Phosphorylated on serine residues. {ECO:0000250|UniProtKB:O00203}.; PTM: Pyrophosphorylated by 5-diphosphoinositol pentakisphosphate (5-IP7) (PubMed:17873058). Pyrophosphorylation impairs interaction with KIF3A (By similarity). Serine pyrophosphorylation is achieved by Mg(2+)-dependent, but enzyme independent transfer of a beta-phosphate from a inositol pyrophosphate to a pre-phosphorylated serine residue (PubMed:17873058). {ECO:0000250|UniProtKB:O00203, ECO:0000269|PubMed:17873058}.
uniprot
proteins
protein_family
Adaptor complexes large subunit family
uniprot
proteins
pubmed
11056055
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17242355
uniprot
proteins
pubmed
17873058
uniprot
proteins
pubmed
19144319
uniprot
proteins
pubmed
19468303
uniprot
proteins
pubmed
21183079
uniprot
proteins
pubmed
21998198
uniprot
proteins
pubmed
9931340
uniprot
proteins
sequence_length
1105
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasmic vesicle, clathrin-coated vesicle membrane {ECO:0000250|UniProtKB:O00203}; Peripheral membrane protein {ECO:0000250|UniProtKB:O00203}; Cytoplasmic side {ECO:0000250|UniProtKB:O00203}. Golgi apparatus {ECO:0000250|UniProtKB:O00203}. Note=Component of the coat surrounding the cytoplasmic face of coated vesicles located at the Golgi complex. {ECO:0000250|UniProtKB:O00203}.
uniprot
proteins