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Bloc1s6
Gene Detail
Symbol

Name
ID
Bloc1s6
biogenesis of lysosomal 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 western clawed frog; 1 zebrafish

HCOP human homology predictions: BLOC1S6
Protein SuperFamily: BLOC-1 complex, pallidin subunit
Gene Tree: Bloc1s6

Human
homologs
BLOC1S6, biogenesis of lysosomal organelles complex-1, subunit 6, pallidin
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 26258
neXtProt AC: NX_Q9UL45

Human Synonyms: BLOS6, HPS9, PA, PALLID, PLDN

Human Chr (Location): 15q21.1; chr15:45587219-45609711 (+)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human BLOC1S6

Mutations,
alleles, and
phenotypes
All mutations/alleles(3) : Gene trapped(2) Spontaneous(1)
Incidental mutations (data from APF )
 
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 in Mice Using Bloc1s6 (2)    Mutations Annotated to Human Diseases (1)    Phenotype Images(1)
Interactions
Bloc1s6 interacts with 321 markers (Mir7-1, Mir7-2, Mir7b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (34 annotations)
Process anterograde axon cargo transport, anterograde synaptic vesicle transport, ...
Component BLOC-1 complex, cell, ...
Function actin filament binding, identical protein binding, ...
External Resources: FuncBase
Expression
Literature Summary: (2 records)
Data Summary: Results (3)    Tissues (3)    Images (1)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 3
cDNA source data(61)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase bloc1s6 ; ZFIN bloc1s6    NEW 
Molecular
reagents
All nucleic(61) cDNA(61)
Microarray probesets(7)
Other database
links
VEGA Gene Model OTTMUSG00000015683 (Evidence)
Ensembl Gene Model ENSMUSG00000005804 (Evidence)
Entrez Gene 18457 (Evidence)
UniGene 268921
DFCI TC1575682, TC1635761, TC1749916
DoTS DT.87072417, DT.97368848
NIA Mouse Gene Index U042356
Consensus CDS Project CCDS16668.1
International Mouse Phenotyping Consortium Status Bloc1s6
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000015683 VEGA Gene Model | MGI Sequence Detail 10973 C57BL/6J ±  kb
transcript OTTMUST00000037272 VEGA | MGI Sequence Detail 3484 Not Applicable 
polypeptide OTTMUSP00000016699 VEGA | MGI Sequence Detail 172 Not Applicable 

For the selected sequences
All sequences(49) RefSeq(2) UniProt(2)
Polymorphisms
SNPs within 2kb(122 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
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:221384 Meng R, et al., Defective release of alpha granule and lysosome contents from platelets in mouse Hermansky-Pudlak syndrome models. Blood. 2015 Mar 5;125(10):1623-32
All references(135)
Disease annotation references (2)
Other
accession IDs
MGD-MRK-13119, MGI:97468

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
08/18/2015
MGI 6.0
The Jackson Laboratory