About   Help   FAQ
Bloc1s5
Gene Detail
Symbol

Name
ID
Bloc1s5
biogenesis of lysosomal organelles complex-1, subunit 5, muted
MGI:2178598
Synonyms
1810074A19Rik, BLOC-1 subunit, mu, Muted
Feature Type
protein coding gene
Genetic Map
Chromosome 13
18.35 cM
Detailed Genetic Map ± 1 cM


Mapping data(19)
Sequence Map
Chr13:38602709-38635109 bp, - strand
From Ensembl annotation of GRCm38

  32401 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:16374  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: BLOC1S5
Protein SuperFamily: BLOC-1 complex, muted subunit
Gene Tree: Bloc1s5

Human
homologs
BLOC1S5, biogenesis of lysosomal organelles complex-1, subunit 5, muted
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 63915
neXtProt AC: NX_Q8TDH9

Human Synonyms: BLOS5, MU, MUTED

Human Chr (Location): 6p25.1-p24.3; chr6:8013567-8064414 (-)  GRCh38.p2

Mutations,
alleles, and
phenotypes
All mutations/alleles(7) : Chemically induced (ENU)(1) Gene trapped(2) Spontaneous(2) Targeted(2)
Incidental mutations (data from APF )
 
Mutations at this locus cause pigment dilution, prolonged bleeding time, and inner ear abnormalities, modeling Hermansky-Pudlak Syndrome.
 
Human Diseases Modeled in Mice Using Bloc1s5 (1)    Mutations Annotated to Human Diseases (1)    Phenotype Images(1)
Interactions
Bloc1s5 interacts with 173 markers (Mir1a-1, Mir1a-2, Mir15a, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (17 annotations)
Process anterograde axon cargo transport, anterograde synaptic vesicle transport, ...
Component BLOC-1 complex, cell, ...
Function protein binding
External Resources: FuncBase
Expression
Literature Summary: (1 records)
cDNA source data(40)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase bloc1s5 ; ZFIN bloc1s5    NEW 
Molecular
reagents
All nucleic(51) Genomic(11) cDNA(40)
Microarray probesets(3)
Other database
links
Ensembl Gene Model ENSMUSG00000038982 (Evidence)
Entrez Gene 17828 (Evidence)
UniGene 261554
DFCI TC1578593
DoTS DT.101355700, DT.101386006, DT.491236, DT.94315766
NIA Mouse Gene Index U034700
Consensus CDS Project CCDS26464.1
International Mouse Phenotyping Consortium Status Bloc1s5
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000038982 Ensembl Gene Model | MGI Sequence Detail 32401 C57BL/6J ±  kb
transcript ENSMUST00000035899 Ensembl | MGI Sequence Detail 1766 Not Applicable 
polypeptide ENSMUSP00000036614 Ensembl | MGI Sequence Detail 185 Not Applicable 

For the selected sequences
All sequences(31) RefSeq(6) UniProt(2)
Polymorphisms
SNPs within 2kb(185 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR017243 BLOC-1 complex, muted subunit
Protein Ontology PR:000010783 protein Muted
References
(Earliest) J:29163 Hulse EV, et al., Foam-cell reticulosis, fm. Mouse News Lett. 1965;32:38
(Latest) J:192646 Yang Q, et al., The BLOS1-interacting protein KXD1 is involved in the biogenesis of lysosome-related organelles. Traffic. 2012 Aug;13(8):1160-9
All references(59)
Disease annotation references (1)
Other
accession IDs
MGD-MRK-12702, MGI:1923762, MGI:97230

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
08/18/2015
MGI 6.0
The Jackson Laboratory