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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 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; chr15:45587219-45609711 (+)  GRCh38
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: (31 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)
Theiler Stages: 23
Assay TypeResults
RNA in situ 3
cDNA source data(61)
External Resources: Allen Institute   GEO   ArrayExpress
Molecular
reagents
All nucleic(61) cDNA(61)
Microarray probesets(7)
Other database
links
VEGA Gene ModelOTTMUSG00000015683 (Evidence)
Ensembl Gene ModelENSMUSG00000005804 (Evidence)
Entrez Gene18457 (Evidence)
UniGene268921
DFCITC1575682, TC1635761, TC1749916
DoTSDT.87072417, DT.97368848
NIA Mouse Gene IndexU042356
Consensus CDS ProjectCCDS16668.1
International Mouse Knockout Project StatusBloc1s6
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:205093 Sullo N, et al., Skeletal muscle oxidative metabolism in an animal model of pulmonary emphysema: formoterol and skeletal muscle dysfunction. Am J Respir Cell Mol Biol. 2013 Feb;48(2):198-203
All references(134)
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
04/15/2014
MGI 5.17
The Jackson Laboratory