BL1S2_RAT
ID BL1S2_RAT Reviewed; 142 AA.
AC Q32WR5;
DT 16-MAY-2006, integrated into UniProtKB/Swiss-Prot.
DT 06-DEC-2005, sequence version 1.
DT 03-AUG-2022, entry version 105.
DE RecName: Full=Biogenesis of lysosome-related organelles complex-1 subunit 2;
DE Short=BLOC-1 subunit 2;
DE AltName: Full=Spinal cord-expressed protein 1;
GN Name=Bloc1s2; Synonyms=Rsep1, Sep1;
OS Rattus norvegicus (Rat).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae;
OC Murinae; Rattus.
OX NCBI_TaxID=10116;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY, AND INDUCTION.
RC STRAIN=Sprague-Dawley; TISSUE=Spinal cord;
RX PubMed=16176350; DOI=10.1111/j.1460-9568.2005.04282.x;
RA Wang X., Zhang Y., Kong L., Xie Z., Lin Z., Guo N., Strong J.A.,
RA Meij J.T.A., Zhao Z., Jing N., Yu L.;
RT "RSEP1 is a novel gene with functional involvement in neuropathic pain
RT behaviour.";
RL Eur. J. Neurosci. 22:1090-1096(2005).
CC -!- FUNCTION: Component of the BLOC-1 complex, a complex that is required
CC for normal biogenesis of lysosome-related organelles (LRO), such as
CC platelet dense granules and melanosomes. In concert with the AP-3
CC complex, the BLOC-1 complex is required to target membrane protein
CC cargos into vesicles assembled at cell bodies for delivery into
CC neurites and nerve terminals. The BLOC-1 complex, in association with
CC SNARE proteins, is also proposed to be involved in neurite extension.
CC As part of the BORC complex may play a role in lysosomes movement and
CC localization at the cell periphery. Associated with the cytosolic face
CC of lysosomes, the BORC complex may recruit ARL8B and couple lysosomes
CC to microtubule plus-end-directed kinesin motor. May play a role in cell
CC proliferation. {ECO:0000250|UniProtKB:Q6QNY1,
CC ECO:0000250|UniProtKB:Q9CWG9}.
CC -!- SUBUNIT: Component of the biogenesis of lysosome-related organelles
CC complex 1 (BLOC-1) composed of BLOC1S1, BLOC1S2, BLOC1S3, BLOC1S4,
CC BLOC1S5, BLOC1S6, DTNBP1/BLOC1S7 and SNAPIN/BLOC1S8. Octamer composed
CC of one copy each BLOC1S1, BLOC1S2, BLOC1S3, BLOC1S4, BLOC1S5, BLOC1S6,
CC DTNBP1/BLOC1S7 and SNAPIN/BLOC1S8. Interacts directly with BLOC1S1,
CC BLOC1S3, BLOC1S4, BLOC1S5 and SNAPIN. The BLOC-1 complex associates
CC with the AP-3 protein complex and membrane protein cargos. Component of
CC the BLOC-one-related complex (BORC) which is composed of BLOC1S1,
CC BLOC1S2, BORCS5, BORCS6, BORCS7, BORCS8, KXD1 and SNAPIN. Interacts
CC with gamma-tubulin. Interacts with IFT57.
CC {ECO:0000250|UniProtKB:Q6QNY1, ECO:0000250|UniProtKB:Q9CWG9}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing
CC center, centrosome {ECO:0000250|UniProtKB:Q6QNY1}. Lysosome membrane
CC {ECO:0000250|UniProtKB:Q6QNY1}. Note=Localizes to the centrosomes in a
CC microtubule-dependent manner. {ECO:0000250|UniProtKB:Q6QNY1}.
CC -!- TISSUE SPECIFICITY: Widely expressed. Highly expressed in most brain
CC regions, spinal cord, kidney and ovary. In the brain, expressed in the
CC frontal cortex and the superior thalamic radiation, with the strongest
CC expression in the granule cells of hippocampal CA1, CA3 and dentate
CC gyrus regions. In the spinal cord, mainly expressed in the gray matter.
CC Expression level is high in laminae I-II and V-VI small sensory neurons
CC in the dorsal horn, as well as in the large motor neurons of the
CC ventral horn. {ECO:0000269|PubMed:16176350}.
CC -!- INDUCTION: Overexpressed in injured nerves.
CC {ECO:0000269|PubMed:16176350}.
CC -!- SIMILARITY: Belongs to the BLOC1S2 family. {ECO:0000305}.
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DR EMBL; AY786315; AAX11391.1; -; mRNA.
DR RefSeq; NP_001032426.1; NM_001037349.2.
DR AlphaFoldDB; Q32WR5; -.
DR SMR; Q32WR5; -.
DR BioGRID; 254515; 1.
DR STRING; 10116.ENSRNOP00000017006; -.
DR iPTMnet; Q32WR5; -.
DR PhosphoSitePlus; Q32WR5; -.
DR PaxDb; Q32WR5; -.
DR GeneID; 293938; -.
DR KEGG; rno:293938; -.
DR UCSC; RGD:1306551; rat.
DR CTD; 282991; -.
DR RGD; 1306551; Bloc1s2.
DR VEuPathDB; HostDB:ENSRNOG00000012684; -.
DR eggNOG; KOG4559; Eukaryota.
DR InParanoid; Q32WR5; -.
DR PRO; PR:Q32WR5; -.
DR Proteomes; UP000002494; Chromosome 1.
DR Bgee; ENSRNOG00000012684; Expressed in thymus and 20 other tissues.
DR ExpressionAtlas; Q32WR5; baseline and differential.
DR Genevisible; Q32WR5; RN.
DR GO; GO:1904115; C:axon cytoplasm; IEA:GOC.
DR GO; GO:0031083; C:BLOC-1 complex; ISS:UniProtKB.
DR GO; GO:0099078; C:BORC complex; ISS:UniProtKB.
DR GO; GO:0005813; C:centrosome; IDA:RGD.
DR GO; GO:0005737; C:cytoplasm; IDA:RGD.
DR GO; GO:0005829; C:cytosol; ISO:RGD.
DR GO; GO:0000930; C:gamma-tubulin complex; ISO:RGD.
DR GO; GO:0005765; C:lysosomal membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0005739; C:mitochondrion; ISS:UniProtKB.
DR GO; GO:0005634; C:nucleus; IDA:RGD.
DR GO; GO:0055037; C:recycling endosome; IDA:RGD.
DR GO; GO:0043015; F:gamma-tubulin binding; ISO:RGD.
DR GO; GO:0008022; F:protein C-terminus binding; IPI:RGD.
DR GO; GO:0008089; P:anterograde axonal transport; ISS:UniProtKB.
DR GO; GO:0048490; P:anterograde synaptic vesicle transport; ISS:UniProtKB.
DR GO; GO:0016197; P:endosomal transport; IBA:GO_Central.
DR GO; GO:0008625; P:extrinsic apoptotic signaling pathway via death domain receptors; ISS:UniProtKB.
DR GO; GO:0032418; P:lysosome localization; ISS:UniProtKB.
DR GO; GO:0097345; P:mitochondrial outer membrane permeabilization; ISS:UniProtKB.
DR GO; GO:0031175; P:neuron projection development; ISS:UniProtKB.
DR GO; GO:0008284; P:positive regulation of cell population proliferation; ISO:RGD.
DR GO; GO:0045944; P:positive regulation of transcription by RNA polymerase II; IMP:RGD.
DR InterPro; IPR019269; BLOC1_su2.
DR PANTHER; PTHR46479; PTHR46479; 1.
DR Pfam; PF10046; BLOC1_2; 1.
PE 2: Evidence at transcript level;
KW Acetylation; Coiled coil; Cytoplasm; Cytoskeleton; Lysosome; Membrane;
KW Reference proteome.
FT INIT_MET 1
FT /note="Removed"
FT /evidence="ECO:0000250|UniProtKB:Q6QNY1"
FT CHAIN 2..142
FT /note="Biogenesis of lysosome-related organelles complex-1
FT subunit 2"
FT /id="PRO_0000234546"
FT REGION 1..33
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 79..127
FT /evidence="ECO:0000255"
FT COMPBIAS 11..33
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 2
FT /note="N-acetylalanine"
FT /evidence="ECO:0000250|UniProtKB:Q6QNY1"
SQ SEQUENCE 142 AA; 16067 MW; 86E9E020F92E2D49 CRC64;
MAAAAEGVPA TRREEPPRDD AAVETAEEAK EPAEADINEL CRDMFSKMAT YLTGELTATS
EDYKLLENMN KLTSLKYLEM KDIAINISRN LKDLNQKYAG LQPYLDQINV IEEQVAALEQ
AAYKLDAYSK KLEAKYKKLE KR
