ZFIN ID: ZDB-GENE-050809-129
Gene Name: biogenesis of lysosomal organelles complex-1, subunit 2
Gene Symbol: bloc1s2    Nomenclature History

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Previous Name: zgc:111974

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(Including Attributions)
Gene Type: protein_coding_gene
Location: Chr: 20 Mapping Details/Browsers
Description: Predicted to have gamma-tubulin binding activity. Involved in negative regulation of Notch signaling pathway and regulation of hematopoietic progenitor cell differentiation. Predicted to localize to BLOC-1 complex; BORC complex; and gamma-tubulin complex. Is expressed in endothelial cell and neurons. Used to study Hermansky-Pudlak syndrome. Orthologous to human BLOC1S2 (biogenesis of lysosomal organelles complex 1 subunit 2).
Genome Resources: Alliance (1),  Gene:606665 (1),  Ensembl(GRCz11):ENSDARG00000046081 (2)
GENE EXPRESSION
All Expression Data: 2 figures from 2 publications
Wild-type Stages, Structures: Pharyngula:Prim-5 (24.0h-30.0h) to Pharyngula:Prim-5 (24.0h-30.0h)
 
MUTATIONS AND SEQUENCE TARGETING REAGENTS
Allele Type Localization Consequence Mutagen Suppliers
ihb818 Small Deletion Unknown Unknown CRISPR
ioz8 Insertion Exon 1 Frameshift CRISPR
la021779Tg Transgenic Insertion Unknown Unknown DNA
Sequence Targeting Reagents
Targeting Reagent Created Alleles Publications
CRISPR1-bloc1s2 1
CRISPR2-bloc1s2 3
DISEASE ASSOCIATED WITH bloc1s2 HUMAN ORTHOLOG No data available
DISEASE ASSOCIATED WITH bloc1s2 VIA EXPERIMENTAL MODELS
Human Disease Fish Conditions Citations
Hermansky-Pudlak syndrome bloc1s2ihb818/ihb818 standard conditions Chen et al., 2018
GENE ONTOLOGY
Ontology GO Term
Biological Process negative regulation of lymphoid progenitor cell differentiation (more)
Cellular Component BLOC-1 complex (more)
Molecular Function gamma-tubulin binding (more)
GO Terms (all 10)
PROTEIN FAMILIES, DOMAINS AND SITES No links to external sites available
TRANSCRIPTS
Type Name Length (nt) Analysis
mRNA bloc1s2-201 (1)    Ensembl 924
bloc1s2-202 (1)    Ensembl 915
bloc1s2-203 (1)    Ensembl 1019
Browsers: UCSCNCBIEnsemblZFIN
INTERACTIONS AND PATHWAYS
ANTIBODIES No data available
PLASMIDS No data available
CONSTRUCTS WITH SEQUENCES FROM bloc1s2 No data available
MARKER RELATIONSHIPS
bloc1s2 Contained in: [BAC] CH211-257M21 (1)
bloc1s2 Encodes: [cDNA] MGC:111974 (1)
SEQUENCE INFORMATION
Type Accession # Length (nt/aa) Analysis
RNA RefSeq:NM_001033101 (1) 869 nt
Genomic GenBank:BX897740 (1) 160056 nt
Select Tool
Polypeptide UniProtKB:A2BIA5 (1) 177 aa
Sequence Information (all 18)
ORTHOLOGY for bloc1s2 ( Chr: 20 )
CITATIONS (26)