Bloc1s3
Gene Detail

Symbol Name ID

Bloc1s3 biogenesis of lysosome-related 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; 1 zebrafish

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; chr19:45682003-45685058 (+)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human BLOC1S3

Alleles and phenotypes

All alleles(12) : Targeted(1) Gene trapped(10) Spontaneous(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)   

Gene Ontology (GO) classifications

All GO classifications: (23 annotations)

Process	anterograde axon cargo transport, anterograde synaptic vesicle transport, ...
Component	BLOC-1 complex, cytoplasm, ...
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   ArrayExpress

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 Knockout Project Status	Bloc1s3

Sequences

Length	Strain/Species
genomic	ENSMUSG00000057667	Ensembl Gene Model | MGI Sequence Detail	2518	C57BL/6J
transcript	ENSMUST00000077408	Ensembl | MGI Sequence Detail	1824	Not Applicable
polypeptide	ENSMUSP00000076624	Ensembl | MGI Sequence Detail	195	Not Applicable

All sequences(17) RefSeq(2) UniProt(1)

Polymorphisms

SNPs(4 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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)

Other accession IDs

MGD-MRK-14012, MGI:98000