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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

HCOP human homology predictions: BLOC1S3
Protein SuperFamily: BLOC-1 complex, subunit 3
Gene Tree: Bloc1s3

Human
homologs
BLOC1S3, biogenesis of lysosomal organelles complex-1, subunit 3
Orthology source: HomoloGene, HGNC

IDs:
NCBI Gene ID: 388552
neXtProt AC: NX_Q6QNY0

Human Synonyms: BLOS3, HPS8, RP

Human Chr (Location): 19q13.32; chr19:45178745-45217078 (+)  GRCh38.p2

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 in Mice Using Bloc1s3 (1)    Mutations Annotated to Human Diseases (1)   
Interactions
Bloc1s3 interacts with 131 markers (Mir7-1, Mir9-1, Mir9-2, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (26 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)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase bloc1s3 ; ZFIN bloc1s3    NEW 
Molecular
reagents
All nucleic(15) cDNA(15)
Microarray probesets(3)
Other database
links
Ensembl Gene Model ENSMUSG00000057667 (Evidence)
Entrez Gene 232946 (Evidence)
UniGene 64557
DFCI TC1586209, TC1598546
DoTS DT.55239369
NIA Mouse Gene Index U028227
Consensus CDS Project CCDS20904.1
International Mouse Phenotyping Consortium Status Bloc1s3
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(45)
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
06/23/2015
MGI 5.22
The Jackson Laboratory