Version 5.4
Homo sapiens Gene: MUTED
Summary
InnateDB Gene IDBG-60065.7
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol MUTED
Gene Name biogenesis of lysosomal organelles complex-1, subunit 5, muted
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000188428
Encoded Proteins
IDBP-60073
muted homolog (mouse)
IDBP-235337
muted homolog (mouse)
IDBP-590205
muted homolog (mouse)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a component of BLOC-1 (biogenesis of lysosome-related organelles complex 1). Components of this complex are involved in the biogenesis of organelles such as melanosomes and platelet-dense granules. A mouse model for Hermansky-Pudlak Syndrome is mutated in the murine version of this gene. Alternative splicing results in multiple transcript variants. Read-through transcription exists between this gene and the upstream EEF1E1 (eukaryotic translation elongation factor 1 epsilon 1) gene, as well as with the downstream TXNDC5 (thioredoxin domain containing 5) gene. [provided by RefSeq, Dec 2010]
Gene Information
Type Protein coding
Genomic Location Chromosome 6:8013567-8064414
Strand Reverse strand
Band p24.3
Transcripts
ENST00000244777 ENSP00000244777
ENST00000397457 ENSP00000380598
ENST00000475998
ENST00000486432
ENST00000543936 ENSP00000445215
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 14 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.
Experimentally validated
Total 14 [view]
Protein-Protein 14 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 3 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
Biological Process
GO:0008089 anterograde axon cargo transport
GO:0016192 vesicle-mediated transport
GO:0031175 neuron projection development
GO:0032402 melanosome transport
GO:0032438 melanosome organization
GO:0032474 otolith morphogenesis
GO:0035646 endosome to melanosome transport
GO:0048066 developmental pigmentation
GO:0048490 anterograde synaptic vesicle transport
GO:0050942 positive regulation of pigment cell differentiation
Cellular Component
GO:0030133 transport vesicle
GO:0031083 BLOC-1 complex
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000038982
View Gene Order
ENSBTAG00000039732
Not yet available
Cross-References
SwissProt Q8TDH9
TrEMBL G5E931
UniProt Splice Variant
Entrez Gene 63915
UniGene Hs.602069 Hs.719272
RefSeq NM_001199322 NM_001199323 NM_201280
HUGO HGNC:18561
OMIM 607289
CCDS CCDS4506 CCDS75394
HPRD
IMGT
EMBL AF426434 AK301142 AL023694 AL096800 BC032438 BC119644 BC119645 CH471087 CR749569
GenPept AAH32438 AAI19645 AAI19646 AAL99385 BAG62734 CAH18364 CAI20106 CAI21645 EAW55226
RNA Seq Atlas 63915

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca