Mus musculus Gene: Bloc1s5
Summary
InnateDB Gene IDBG-146069.7
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Bloc1s5
Gene Name biogenesis of organelles complex-1, subunit 5, muted
Synonyms 1810074A19Rik; mu; Muted
Species Mus musculus
Ensembl Gene ENSMUSG00000038982
Encoded Proteins
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000188428:
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 13:38602709-38635109
Strand Reverse strand
Band A3.3
Transcripts
ENSMUST00000035899 ENSMUSP00000036614
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.
They are also associated with 7 interaction(s) predicted by orthology.
Experimentally validated
Total 4 [view]
Protein-Protein 4 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 7 [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: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
Homo sapiens
Bos taurus
Gene ID
Gene Order
Not yet available
Cross-References
SwissProt Q8R015
TrEMBL
UniProt Splice Variant
Entrez Gene 17828
UniGene Mm.261554 Mm.397011
RefSeq NM_139063
OMIM
CCDS CCDS26464
HPRD
IMGT
MGI ID MGI:2178598
MGI Symbol Bloc1s5
EMBL AF426433 AK039050 AK075808 AK147762 AK170614 BC023184 BC024720
GenPept AAH23184 AAH24720 AAL99384 BAC30220 BAC35976 BAE28121 BAE41913
RNA Seq Atlas 17828