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0  structures 199  species 0  interactions 232  sequences 5  architectures

Family: Muted (PF14942)

Summary: Organelle biogenesis, Muted-like protein

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Organelle biogenesis, Muted-like protein Provide feedback

The protein is a coiled-coil protein and belongs to a family found in eukaryotes. It undergoes alternative splicing forming two isoforms. The larger isoform is 187 amino acids long in protein sequence length and 21 kDa in mass. The smaller isoform is 110 amino acids long in protein sequence length and 12 kDa in mass. This protein associates with other proteins in order to form biogenesis of lysosome-related organelles complex-1 BLOC1 complex. BLOC-1 is required for the normal biogenesis of specialized organelles of the endosomal-lysosomal system [1].

Literature references

  1. Starcevic M, Dell'Angelica EC; , J Biol Chem. 2004;279:28393-28401.: Identification of snapin and three novel proteins (BLOS1, BLOS2, and BLOS3/reduced pigmentation) as subunits of biogenesis of lysosome-related organelles complex-1 (BLOC-1). PUBMED:15102850 EPMC:15102850


This tab holds annotation information from the InterPro database.

InterPro entry 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].

Gene Ontology

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Domain organisation

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Alignments

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(32)
Full
(232)
Representative proteomes UniProt
(343)
NCBI
(629)
Meta
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RP15
(68)
RP35
(113)
RP55
(186)
RP75
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  Seed
(32)
Full
(232)
Representative proteomes UniProt
(343)
NCBI
(629)
Meta
(0)
RP15
(68)
RP35
(113)
RP55
(186)
RP75
(230)
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  Seed
(32)
Full
(232)
Representative proteomes UniProt
(343)
NCBI
(629)
Meta
(0)
RP15
(68)
RP35
(113)
RP55
(186)
RP75
(230)
Raw Stockholm Download   Download   Download   Download   Download   Download   Download   Download    
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You can also download a FASTA format file containing the full-length sequences for all sequences in the full alignment.

HMM logo

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Curation and family details

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Seed source: Jackhmmer:Q8TDH9
Previous IDs: none
Type: Family
Sequence Ontology: SO:0100021
Author: Coggill P , Hetherington K
Number in seed: 32
Number in full: 232
Average length of the domain: 129.90 aa
Average identity of full alignment: 37 %
Average coverage of the sequence by the domain: 77.65 %

HMM information View help on HMM parameters

HMM build commands:
build method: hmmbuild -o /dev/null HMM SEED
search method: hmmsearch -Z 45638612 -E 1000 --cpu 4 HMM pfamseq
Model details:
Parameter Sequence Domain
Gathering cut-off 26.0 25.7
Trusted cut-off 26.1 26.2
Noise cut-off 25.8 25.6
Model length: 146
Family (HMM) version: 6
Download: download the raw HMM for this family

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