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Bloc1s3
Gene Detail
 Symbol
Name
ID
Bloc1s3
biogenesis of lysosomal organelles complex-1, subunit 3
MGI:2678952
Synonyms BLOS3, rp
Feature Type protein coding gene
Genetic Map
Chromosome 7
9.92 cM
Detailed Genetic Map ± 1 cM


Mapping data(5)
Sequence Map
Chr7:19505814-19508331 bp, - strand
From Ensembl annotation of GRCm38

  2518 bp   ±  kb flank

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


Mouse Genome Browser
Vertebrate
homology
HomoloGene:18605  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog

Protein SuperFamily: BLOC-1 complex, subunit 3
Gene Tree: Bloc1s3

Human
homologs
Human Homolog BLOC1S3, biogenesis of lysosomal organelles complex-1, subunit 3
NCBI Gene ID 388552
neXtProt AC  NX_Q6QNY0
Human Synonyms  BLOS3, HPS8, RP
Human Chr (Location)  19q13.32; chr19:45178745-45181800 (+)  GRCh38
Disease Associations  (1) Diseases Associated with Human BLOC1S3
Mutations,
alleles, and
phenotypes
All mutations/alleles(12) : Gene trapped(10) Spontaneous(1) Targeted(1)
 
Homozygotes have a hypopigmented coat color and show phenotypic similarity to human Hermansky-Pudlak Syndrome.
 
Human Diseases Modeled Using Mouse Bloc1s3 (1)    Alleles Annotated to Human Diseases(1)   
Interactions
Bloc1s3 interacts with 131 markers (Mir7-1, Mir9-1, Mir9-2, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (25 annotations)
Process anterograde axon cargo transport, anterograde synaptic vesicle transport, ...
Component BLOC-1 complex, cell, ...
Function protein binding
This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase
Expression
cDNA source data(15)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(15) cDNA(15)
Microarray probesets(3)
Other database
links
Ensembl Gene ModelENSMUSG00000057667 (Evidence)
Entrez Gene232946 (Evidence)
UniGene64557
DFCITC1586209, TC1598546
DoTSDT.55239369
NIA Mouse Gene IndexU028227
Consensus CDS ProjectCCDS20904.1
International Mouse Knockout Project StatusBloc1s3
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000057667 Ensembl Gene Model | MGI Sequence Detail 2518 C57BL/6J ±  kb
transcript ENSMUST00000077408 Ensembl | MGI Sequence Detail 1824 Not Applicable 
polypeptide ENSMUSP00000076624 Ensembl | MGI Sequence Detail 195 Not Applicable 

For the selected sequences
All sequences(21) RefSeq(6) UniProt(1)
Polymorphisms SNPs within 2kb(30 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR017245 BLOC-1 complex, subunit 3
Protein Ontology PR:000004764 biogenesis of lysosome-related organelles complex 1 subunit 3
References (Earliest) J:64459 Lundin LG, rp - reduced pigmentation. Mouse News Lett. 1979;61:66
(Latest) J:187545 Larimore J, et al., The schizophrenia susceptibility factor dysbindin and its associated complex sort cargoes from cell bodies to the synapse. Mol Biol Cell. 2011 Dec;22(24):4854-67
All references(46)
Disease annotation references (1)
Other
accession IDs
MGD-MRK-14012, MGI:98000

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
09/09/2014
MGI 5.19
The Jackson Laboratory