Bloc1s6
Gene Detail

Symbol Name ID

Bloc1s6 biogenesis of organelles complex-1, subunit 6, pallidin MGI:1927580

Synonyms

BLOC-1, BLOC-1 subunit, Pldn

Feature Type

protein coding gene

Genetic Map

Chromosome 2

60.66 cM
Detailed Genetic Map ± 1 cM


Mapping data(54)

Sequence Map

Chr2:122738503-122749475 bp, + strand From VEGA annotation of GRCm38   10973 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:40841  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, pallidin subunit
Gene Tree: Bloc1s6

Human homologs

Human Homolog		BLOC1S6, biogenesis of lysosomal organelles complex-1, subunit 6, pallidin
NCBI Gene ID		26258
neXtProt AC		NX_Q9UL45
Human Synonyms		BLOS6, HPS9, PA, PALLID, PLDN
Human Chr (Location)		15q21.1; chr15:45879417-45901909 (+)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human BLOC1S6

Alleles and phenotypes

All alleles(3) : Gene trapped(2) Spontaneous(1)
 

Mutations at this locus result in a coat color abnormality, abnormal platelet morphology, age related lung abnormalities, decreased ssurvival, and impaired motor coordination.

 
Human Diseases Modeled Using Mouse Bloc1s6 (2)    Alleles Annotated to Human Diseases(1)    Phenotype Images(1)

Gene Ontology (GO) classifications

All GO classifications: (28 annotations)

Process	anterograde axon cargo transport, anterograde synaptic vesicle transport, ...
Component	BLOC-1 complex, cytoplasm, ...
Function	actin filament binding, identical protein binding, ...

External Resources: FuncBase

Expression

Literature Summary: (2 records)
Data Summary: Results (3)    Tissues (3)    Images (1)
Theiler Stages: 23

Assay Type	Results
RNA in situ	3

cDNA source data(55)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(55) cDNA(55)
Microarray probesets(7)

Other database links

VEGA Gene Model	OTTMUSG00000015683 (Evidence)
Ensembl Gene Model	ENSMUSG00000005804 (Evidence)
Entrez Gene	18457 (Evidence)
UniGene	485877
DFCI	TC1575682, TC1635761, TC1749916
DoTS	DT.87072417, DT.97368848
NIA Mouse Gene Index	U042356
Consensus CDS Project	CCDS16668.1
International Mouse Knockout Project Status	Bloc1s6

Sequences

Length	Strain/Species
genomic	OTTMUSG00000015683	VEGA Gene Model | MGI Sequence Detail	10973	C57BL/6J
transcript	OTTMUST00000037272	VEGA | MGI Sequence Detail	3484	Not Applicable
polypeptide	OTTMUSP00000016699	VEGA | MGI Sequence Detail	172	Not Applicable

All sequences(49) RefSeq(2) UniProt(2)

Polymorphisms

SNPs(77 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR017242	BLOC-1 complex, pallidin subunit
Protein Ontology	PR:000012849	pallidin

References

(Earliest) J:13138 Roberts E, A new mutation in the house mouse (Mus musculus). Science. 1931;74:569
(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(131)

Other accession IDs

MGD-MRK-13119, MGI:97468