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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 cattle; 1 dog; 1 chicken; 1 zebrafish

Protein SuperFamily: BLOC-1 complex, muted subunit
Gene Tree: Bloc1s5

Human
homologs
Human Homolog BLOC1S5, biogenesis of lysosomal organelles complex-1, subunit 5, muted
NCBI Gene ID 63915
neXtProt AC  NX_Q8TDH9
Human Synonyms  BLOS5, MU, MUTED
Human Chr (Location)  6p25.1-p24.3; chr6:8013567-8064414 (-)  GRCh38
Alleles
and
phenotypes
All alleles(7) : Targeted(2) Gene trapped(2) Spontaneous(2) Chemically induced(1)
 
Mutations at this locus cause pigment dilution, prolonged bleeding time, and inner ear abnormalities, modeling Hermansky-Pudlak Syndrome.
 
Human Diseases Modeled Using Mouse Bloc1s5 (1)    Alleles Annotated to Human Diseases(1)    Phenotype Images(1)
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)
External Resources: Allen Institute   GEO   ArrayExpress
Molecular
reagents
All nucleic(51) Genomic(11) cDNA(40)
Microarray probesets(3)
Other database
links
Ensembl Gene ModelENSMUSG00000038982 (Evidence)
Entrez Gene17828 (Evidence)
UniGene261554
DFCITC1578593
DoTSDT.101355700, DT.101386006, DT.491236, DT.94315766
NIA Mouse Gene IndexU034700
Consensus CDS ProjectCCDS26464.1
International Mouse Knockout Project StatusBloc1s5
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(29) RefSeq(4) 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(60)
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
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last database update
04/15/2014
MGI 5.17
The Jackson Laboratory