Bloc1s2 biogenesis of lysosomal organelles complex-1, subunit 2 [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Bloc1s2provided by RGD
Official Full Name: biogenesis of lysosomal organelles complex-1, subunit 2provided by RGD
Primary source: RGD:1306551
See related: EnsemblRapid:ENSRNOG00000012684 AllianceGenome:RGD:1306551
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
Also known as: Sep1; RSEP1
Summary: Predicted to enable gamma-tubulin binding activity. Involved in positive regulation of transcription by RNA polymerase II. Located in centrosome and recycling endosome. Orthologous to human BLOC1S2 (biogenesis of lysosomal organelles complex 1 subunit 2). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in Thymus (RPKM 161.4), Spleen (RPKM 152.4) and 9 other tissues See more
Orthologs: human mouse all
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Genomic context

Location:: 1q54

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	1	NC_086019.1 (252973818..252980873, complement)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	1	NC_051336.1 (243024611..243031749, complement)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	1	NC_005100.4 (263913901..263920989, complement)

Chromosome 1 - NC_086019.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

WASH is a bimodular protein and a component of the BLOC-1 complex in which the C terminus is involved in Arp2/3-mediated actin nucleation, whereas the N-terminal portion is required for its regulation and localization in the cells
Title: Functional characterization of Wiskott-Aldrich syndrome protein and scar homolog (WASH), a bi-modular nucleation-promoting factor able to interact with biogenesis of lysosome-related organelle subunit 2 (BLOS2) and gamma-tubulin.
rat spinal cord expression protein 1 is a novel gene with functional involvement in neuropathic pain behaviour.
Title: RSEP1 is a novel gene with functional involvement in neuropathic pain behaviour.
In search of novel interaction partners of AATF, we identified BLOS2 (BLOC1S2, also termed Ceap) from a rat cDNA library; BLOS2 is extremely conserved with a high degree of homology to yeast She3p.
Title: Characterization of rat BLOS2/Ceap, a putative yeast She3 homolog, as interaction partner of apoptosis antagonizing transcription factor/Che-1.

Submit: New GeneRIF Correction

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH141771 (e-PCR)
- UniSTS:223764

NoName (e-PCR)
- UniSTS:234389

Gene Ontology Provided by RGD

Function	Evidence Code	Pubs
enables gamma-tubulin binding	IBA Inferred from Biological aspect of Ancestor more info
enables gamma-tubulin binding	IEA Inferred from Electronic Annotation more info
enables gamma-tubulin binding	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 axonal transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in anterograde synaptic vesicle transport	ISO Inferred from Sequence Orthology more info
involved_in anterograde synaptic vesicle transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in endosomal transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in extrinsic apoptotic signaling pathway via death domain receptors	IEA Inferred from Electronic Annotation more info
involved_in extrinsic apoptotic signaling pathway via death domain receptors	ISO Inferred from Sequence Orthology more info
involved_in extrinsic apoptotic signaling pathway via death domain receptors	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in lysosome localization	IBA Inferred from Biological aspect of Ancestor more info
involved_in lysosome localization	IEA Inferred from Electronic Annotation more info
involved_in lysosome localization	ISO Inferred from Sequence Orthology more info
involved_in lysosome localization	ISS Inferred from Sequence or Structural Similarity more info
involved_in mitochondrial outer membrane permeabilization	IEA Inferred from Electronic Annotation more info
involved_in mitochondrial outer membrane permeabilization	ISO Inferred from Sequence Orthology more info
involved_in mitochondrial outer membrane permeabilization	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in neuron projection development	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of DNA-templated transcription	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of cell population proliferation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of BLOC-1 complex	IBA Inferred from Biological aspect of Ancestor more info
part_of BLOC-1 complex	IEA Inferred from Electronic Annotation more info
part_of BLOC-1 complex	ISO Inferred from Sequence Orthology more info
part_of BLOC-1 complex	ISS Inferred from Sequence or Structural Similarity more info
part_of BORC complex	IBA Inferred from Biological aspect of Ancestor more info
part_of BORC complex	IEA Inferred from Electronic Annotation more info
part_of BORC complex	ISO Inferred from Sequence Orthology more info
part_of BORC complex	ISS Inferred from Sequence or Structural Similarity more info
located_in axon cytoplasm	IEA Inferred from Electronic Annotation more info
located_in centrosome	IDA Inferred from Direct Assay more info	PubMed
located_in centrosome	ISO Inferred from Sequence Orthology more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
part_of gamma-tubulin complex	IBA Inferred from Biological aspect of Ancestor more info
part_of gamma-tubulin complex	IEA Inferred from Electronic Annotation more info
part_of gamma-tubulin complex	ISO Inferred from Sequence Orthology more info
located_in lysosomal membrane	IEA Inferred from Electronic Annotation more info
located_in mitochondrion	IEA Inferred from Electronic Annotation more info
located_in mitochondrion	ISO Inferred from Sequence Orthology more info
located_in mitochondrion	ISS Inferred from Sequence or Structural Similarity more info	PubMed
located_in nucleus	ISO Inferred from Sequence Orthology more info
located_in recycling endosome	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: biogenesis of lysosome-related organelles complex-1 subunit 2

Names: BLOC-1 subunit 2; spinal cord-expressed protein 1

NCBI Reference Sequences (RefSeq)

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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_001037349.2 → NP_001032426.1 biogenesis of lysosome-related organelles complex-1 subunit 2

See identical proteins and their annotated locations for NP_001032426.1

Status: VALIDATED

Source sequence(s)

AY786315, CK220925

UniProtKB/Swiss-Prot

Q32WR5

UniProtKB/TrEMBL

A0A8L2UJ11, A6JHF0

Related

ENSRNOP00000068679.3, ENSRNOT00000090755.3

Conserved Domains (1) summary

pfam10046
Location:43 → 137

BLOC1_2; Biogenesis of lysosome-related organelles complex-1 subunit 2

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

252973818..252980873 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_008760400.4 → XP_008758622.1 biogenesis of lysosome-related organelles complex-1 subunit 2 isoform X2

See identical proteins and their annotated locations for XP_008758622.1

UniProtKB/TrEMBL

A6JHF1

Conserved Domains (1) summary

pfam10046
Location:1 → 94

BLOC1_2; Biogenesis of lysosome-related organelles complex-1 subunit 2
XM_063287056.1 → XP_063143126.1 biogenesis of lysosome-related organelles complex-1 subunit 2 isoform X1