SMART: Pfam domain Muted

The domain within your query sequence starts at position 34 and ends at position 179; the E-value for the Muted domain shown below is 6.6e-55.

IKDLGEIHSRLLDHRPVTQGEIRYFVKEFEEKRGLRELRVLKNLENTIQETNECLLPKCR
ETMECGLGETLQRLQAANDSICRLQQREQERKKVINDYLTASEKRRLVQWEEFVSGQPQR
RAEVDEEHRRAVERLREQYAAMEKDL

Muted

PFAM accession number:	PF14942
Interpro abstract (IPR017243):	Lysosomes are membrane-bound organelles found in animals that are involved in degradation of endogenous and exogenous macromolecules [ (PUBMED:15261680) ]. Lysosome-related organelles occur in specific cell types and fulfil specialised functions e.g. melanosomes which synthesise and store pigments in higher eukaryotes. Lysosome biogenesis is linked to the to the secretory and endocytic pathways for protein and lipid trafficking. One of the protein complexes involved in this process is biogenesis of lysosome-related organelles complex 1 (BLOC-1). This complex consists of seven distinct subunits: dysbindin, pallidin, muted, snapin, cappuccino, and BLOS1-3 subunits [ (PUBMED:21998198) ]. Apart from BLOCS3 all of these subunits are predicted to form coiled-coil structures. BLOC-1 can be found in the cytosol and also associated with membranes. Protein interaction studies suggest that this complex interacts with a number of proteins including syntaxin, filametous actin, dystrobrevin and mysopryn, though the molecluar function of this complex is not yet known. Mutations in BLOC-1 subunits are associated with Hermansky-Pudlak syndrome - a disorder characterised by deficiencies in melanosomes, platelet-dense granules and other lysosome-related organelles. Cells that lack lysosome-related organelles express BLOC-1 but do not appear to need it for lysosome biosynthesis. In concert with the AP-3 complex, the BLOC-1 complex is required to target membrane protein cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals [ (PUBMED:21998198) ]. This group represents the subunit 5 (also known as the muted subunit) of BLOC-1 [ (PUBMED:11912185) ]. In mice, defects in this protein are the cause of the Muted (mu) mutant, which is characterised by light eyes at birth, hypopigmentation of the coat, platelet storage pool deficiency and lysosomal hyposecretion [ (PUBMED:11912185) ].
GO component:	BLOC-1 complex (GO:0031083), transport vesicle (GO:0030133)

PFAM accession number:

PF14942

Interpro abstract (IPR017243):

Lysosomes are membrane-bound organelles found in animals that are involved in degradation of endogenous and exogenous macromolecules [ (PUBMED:15261680) ]. Lysosome-related organelles occur in specific cell types and fulfil specialised functions e.g. melanosomes which synthesise and store pigments in higher eukaryotes. Lysosome biogenesis is linked to the to the secretory and endocytic pathways for protein and lipid trafficking.

One of the protein complexes involved in this process is biogenesis of lysosome-related organelles complex 1 (BLOC-1). This complex consists of seven distinct subunits: dysbindin, pallidin, muted, snapin, cappuccino, and BLOS1-3 subunits [ (PUBMED:21998198) ]. Apart from BLOCS3 all of these subunits are predicted to form coiled-coil structures. BLOC-1 can be found in the cytosol and also associated with membranes. Protein interaction studies suggest that this complex interacts with a number of proteins including syntaxin, filametous actin, dystrobrevin and mysopryn, though the molecluar function of this complex is not yet known. Mutations in BLOC-1 subunits are associated with Hermansky-Pudlak syndrome - a disorder characterised by deficiencies in melanosomes, platelet-dense granules and other lysosome-related organelles. Cells that lack lysosome-related organelles express BLOC-1 but do not appear to need it for lysosome biosynthesis. In concert with the AP-3 complex, the BLOC-1 complex is required to target membrane protein cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals [ (PUBMED:21998198) ].

This group represents the subunit 5 (also known as the muted subunit) of BLOC-1 [ (PUBMED:11912185) ]. In mice, defects in this protein are the cause of the Muted (mu) mutant, which is characterised by light eyes at birth, hypopigmentation of the coat, platelet storage pool deficiency and lysosomal hyposecretion [ (PUBMED:11912185) ].

GO component:

BLOC-1 complex (GO:0031083), transport vesicle (GO:0030133)

This is a PFAM domain. For full annotation and more information, please see the PFAM entry Muted