Bloc1s3 biogenesis of lysosomal organelles complex-1, subunit 3 [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Bloc1s3provided by RGD
Official Full Name: biogenesis of lysosomal organelles complex-1, subunit 3provided by RGD
Primary source: RGD:1591724
See related: Ensembl:ENSRNOG00000017463 AllianceGenome:RGD:1591724
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Summary: Predicted to enable protein transmembrane transporter activity. Predicted to be involved in several processes, including endosome to melanosome transport; establishment of vesicle localization; and platelet activation. Predicted to act upstream of or within several processes, including positive regulation of natural killer cell activation; secretion of lysosomal enzymes; and vesicle organization. Predicted to be located in cytosol and transport vesicle. Predicted to be part of BLOC-1 complex. Human ortholog(s) of this gene implicated in Hermansky-Pudlak syndrome 8. Orthologous to human BLOC1S3 (biogenesis of lysosomal organelles complex 1 subunit 3). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in Kidney (RPKM 45.0), Heart (RPKM 35.3) and 9 other tissues See more
Orthologs: human mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 1q21

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	1	NC_086019.1 (88283864..88286244, complement)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	1	NC_051336.1 (79155873..79158247, complement)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	1	NC_005100.4 (80414766..80417385, complement)

Chromosome 1 - NC_086019.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
BioProject: PRJNA238328
Publication: PMID 24510058
Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Submit: New GeneRIF Correction

General gene information

Go to the top of the page Help

Gene Ontology Provided by RGD

Function	Evidence Code	Pubs
enables protein transmembrane transporter activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in anterograde axonal transport	ISO Inferred from Sequence Orthology more info
involved_in anterograde synaptic vesicle transport	ISO Inferred from Sequence Orthology more info
involved_in biological_process	ND No biological Data available more info
acts_upstream_of_or_within blood coagulation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within developmental pigmentation	ISO Inferred from Sequence Orthology more info
involved_in endosome to melanosome transport	ISO Inferred from Sequence Orthology more info
involved_in eye development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within melanosome organization	ISO Inferred from Sequence Orthology more info
involved_in melanosome transport	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within pigmentation	ISO Inferred from Sequence Orthology more info
involved_in pigmentation	ISO Inferred from Sequence Orthology more info
involved_in platelet activation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within platelet dense granule organization	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of natural killer cell activation	ISO Inferred from Sequence Orthology more info
involved_in protein transmembrane transport	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within response to xenobiotic stimulus	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within secretion of lysosomal enzymes	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
part_of BLOC-1 complex	IBA Inferred from Biological aspect of Ancestor more info
part_of BLOC-1 complex	ISO Inferred from Sequence Orthology more info
located_in axon cytoplasm	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in transport vesicle	ISO Inferred from Sequence Orthology more info

General protein information

Go to the top of the page Help

Preferred Names: biogenesis of lysosome-related organelles complex 1 subunit 3

Names: biogenesis of lysosome-related organelles complex-1, subunit 3

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001401248.1 → NP_001388177.1 biogenesis of lysosome-related organelles complex 1 subunit 3

Status: VALIDATED

Source sequence(s)

JAXUCZ010000001

UniProtKB/TrEMBL

D4A3V6

Related

ENSRNOP00000023457.4, ENSRNOT00000023457.5

RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCr8

Genomic

NC_086019.1 Reference GRCr8

Range

88283864..88286244 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017590002.3 → XP_017445491.1 biogenesis of lysosome-related organelles complex 1 subunit 3 isoform X1

UniProtKB/TrEMBL

D4A3V6

Conserved Domains (1) summary

pfam15753
Location:13 → 180

BLOC1S3; Biogenesis of lysosome-related organelles complex 1 subunit 3