BL1S4_MOUSE
ID BL1S4_MOUSE Reviewed; 215 AA.
AC Q8VED2;
DT 29-AUG-2003, integrated into UniProtKB/Swiss-Prot.
DT 01-MAR-2002, sequence version 1.
DT 03-AUG-2022, entry version 127.
DE RecName: Full=Biogenesis of lysosome-related organelles complex 1 subunit 4;
DE Short=BLOC-1 subunit 4;
DE AltName: Full=Protein cappuccino homolog;
GN Name=Bloc1s4; Synonyms=Cno;
OS Mus musculus (Mouse).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae;
OC Murinae; Mus; Mus.
OX NCBI_TaxID=10090;
RN [1]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], IDENTIFICATION IN THE BLOC-1 COMPLEX,
RP SUBCELLULAR LOCATION, TISSUE SPECIFICITY, AND INTERACTION WITH BLOC1S5 AND
RP BLOC1S6.
RC STRAIN=C3H/HeJ;
RX PubMed=12576321; DOI=10.1182/blood-2003-01-0020;
RA Ciciotte S.L., Gwynn B., Moriyama K., Huizing M., Gahl W.A.,
RA Bonifacino J.S., Peters L.L.;
RT "Cappuccino, a mouse model of Hermansky-Pudlak syndrome, encodes a novel
RT protein that is part of the pallidin-muted complex (BLOC-1).";
RL Blood 101:4402-4407(2003).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [3]
RP DISEASE.
RX PubMed=11110696;
RA Gwynn B., Ciciotte S.L., Hunter S.J., Washburn L.L., Smith R.S.,
RA Andersen S.G., Swank R.T., Dell'Angelica E.C., Bonifacino J.S.,
RA Eicher E.M., Peters L.L.;
RT "Defects in the cappuccino (cno) gene on mouse chromosome 5 and human 4p
RT cause Hermansky-Pudlak syndrome by an AP-3-independent mechanism.";
RL Blood 96:4227-4235(2000).
RN [4]
RP FUNCTION.
RX PubMed=16760431; DOI=10.1091/mbc.e06-02-0103;
RA Salazar G., Craige B., Styers M.L., Newell-Litwa K.A., Doucette M.M.,
RA Wainer B.H., Falcon-Perez J.M., Dell'Angelica E.C., Peden A.A., Werner E.,
RA Faundez V.;
RT "BLOC-1 complex deficiency alters the targeting of adaptor protein complex-
RT 3 cargoes.";
RL Mol. Biol. Cell 17:4014-4026(2006).
RN [5]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Spleen, and Testis;
RX PubMed=21183079; DOI=10.1016/j.cell.2010.12.001;
RA Huttlin E.L., Jedrychowski M.P., Elias J.E., Goswami T., Rad R.,
RA Beausoleil S.A., Villen J., Haas W., Sowa M.E., Gygi S.P.;
RT "A tissue-specific atlas of mouse protein phosphorylation and expression.";
RL Cell 143:1174-1189(2010).
RN [6]
RP FUNCTION.
RX PubMed=19546860; DOI=10.1038/mp.2009.58;
RA Ghiani C.A., Starcevic M., Rodriguez-Fernandez I.A., Nazarian R.,
RA Cheli V.T., Chan L.N., Malvar J.S., de Vellis J., Sabatti C.,
RA Dell'Angelica E.C.;
RT "The dysbindin-containing complex (BLOC-1) in brain: developmental
RT regulation, interaction with SNARE proteins and role in neurite
RT outgrowth.";
RL Mol. Psychiatry 15:204-215(2010).
RN [7]
RP FUNCTION, AND ASSOCIATION WITH THE AP-3 COMPLEX.
RX PubMed=21998198; DOI=10.1091/mbc.e11-07-0592;
RA Larimore J., Tornieri K., Ryder P.V., Gokhale A., Zlatic S.A., Craige B.,
RA Lee J.D., Talbot K., Pare J.F., Smith Y., Faundez V.;
RT "The schizophrenia susceptibility factor dysbindin and its associated
RT complex sort cargoes from cell bodies to the synapse.";
RL Mol. Biol. Cell 22:4854-4867(2011).
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 Plays a role in intracellular vesicle trafficking.
CC {ECO:0000269|PubMed:16760431, ECO:0000269|PubMed:19546860,
CC ECO:0000269|PubMed:21998198}.
CC -!- SUBUNIT: Octamer composed of one copy each BLOC1S1, BLOC1S2, BLOC1S3,
CC BLOC1S4, BLOC1S5, BLOC1S6, DTNBP1/BLOC1S7 and SNAPIN/BLOC1S8 (By
CC similarity). 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. The BLOC-1 complex
CC associates with the AP-3 protein complex and membrane protein cargos.
CC Interacts with BLOC1S5 and BLOC1S6. {ECO:0000250,
CC ECO:0000269|PubMed:12576321}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:12576321}.
CC -!- TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:12576321}.
CC -!- DISEASE: Note=Defects in Cno are the cause of the cappuccino (Cno)
CC mutant, which is characterized by a severe oculocutaneous albinism due
CC to abnormal melanosome formation, and prolonged bleeding due to
CC deficiency of platelet dense body contents.
CC {ECO:0000269|PubMed:11110696}.
CC -!- SIMILARITY: Belongs to the BLOC1S4 family. {ECO:0000305}.
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; AY186603; AAO65401.1; -; Genomic_DNA.
DR EMBL; BC019169; AAH19169.1; -; mRNA.
DR CCDS; CCDS19241.1; -.
DR RefSeq; NP_598485.1; NM_133724.3.
DR AlphaFoldDB; Q8VED2; -.
DR SMR; Q8VED2; -.
DR BioGRID; 228183; 3.
DR ComplexPortal; CPX-1913; BLOC-1 complex.
DR CORUM; Q8VED2; -.
DR STRING; 10090.ENSMUSP00000071840; -.
DR iPTMnet; Q8VED2; -.
DR PhosphoSitePlus; Q8VED2; -.
DR EPD; Q8VED2; -.
DR MaxQB; Q8VED2; -.
DR PaxDb; Q8VED2; -.
DR PeptideAtlas; Q8VED2; -.
DR PRIDE; Q8VED2; -.
DR ProteomicsDB; 273676; -.
DR Antibodypedia; 22679; 67 antibodies from 19 providers.
DR Ensembl; ENSMUST00000071949; ENSMUSP00000071840; ENSMUSG00000060708.
DR GeneID; 117197; -.
DR KEGG; mmu:117197; -.
DR UCSC; uc008xez.1; mouse.
DR CTD; 55330; -.
DR MGI; MGI:1929230; Bloc1s4.
DR VEuPathDB; HostDB:ENSMUSG00000060708; -.
DR eggNOG; ENOG502S1N9; Eukaryota.
DR GeneTree; ENSGT00390000006790; -.
DR HOGENOM; CLU_096507_3_0_1; -.
DR InParanoid; Q8VED2; -.
DR OMA; CTNIDDM; -.
DR OrthoDB; 1592082at2759; -.
DR PhylomeDB; Q8VED2; -.
DR TreeFam; TF326629; -.
DR Reactome; R-MMU-432722; Golgi Associated Vesicle Biogenesis.
DR BioGRID-ORCS; 117197; 8 hits in 73 CRISPR screens.
DR PRO; PR:Q8VED2; -.
DR Proteomes; UP000000589; Chromosome 5.
DR RNAct; Q8VED2; protein.
DR Bgee; ENSMUSG00000060708; Expressed in indifferent gonad and 219 other tissues.
DR Genevisible; Q8VED2; MM.
DR GO; GO:1904115; C:axon cytoplasm; IEA:GOC.
DR GO; GO:0031083; C:BLOC-1 complex; IDA:MGI.
DR GO; GO:0005737; C:cytoplasm; IDA:UniProtKB.
DR GO; GO:0008089; P:anterograde axonal transport; IMP:UniProtKB.
DR GO; GO:0048490; P:anterograde synaptic vesicle transport; IMP:UniProtKB.
DR GO; GO:0032438; P:melanosome organization; IMP:MGI.
DR GO; GO:0050885; P:neuromuscular process controlling balance; IMP:MGI.
DR GO; GO:0031175; P:neuron projection development; NAS:UniProtKB.
DR GO; GO:0070527; P:platelet aggregation; IMP:MGI.
DR InterPro; IPR024857; Cappuccino.
DR PANTHER; PTHR16230; PTHR16230; 1.
PE 1: Evidence at protein level;
KW Albinism; Coiled coil; Cytoplasm; Phosphoprotein; Reference proteome.
FT CHAIN 1..215
FT /note="Biogenesis of lysosome-related organelles complex 1
FT subunit 4"
FT /id="PRO_0000089976"
FT REGION 1..57
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 80..97
FT /evidence="ECO:0000255"
FT COILED 134..165
FT /evidence="ECO:0000255"
FT MOD_RES 164
FT /note="Phosphothreonine"
FT /evidence="ECO:0000250|UniProtKB:Q9NUP1"
SQ SEQUENCE 215 AA; 23112 MW; 1DC32BD07B053D94 CRC64;
MEEGPAVGTL SREVSTEEAE PLGAAWSGDS GHVSQSHSSA SGPWDDDGPE DAPGRDLPLL
RRAASGYASS LLPSAGPRPE VEALDASLEE LLAKVDEFVG MLDMIRGDSS HVVGEGVPRI
HAKAAEMRRI YGRIDKLEAF VRMIGSSVAR MEEQVAKAEA ELGTFPRAFR RLLHTISVPA
LFRSAPSGPQ RAAYEPPVLF RTEDHFPGCG DRPQL
