BL1S4_HUMAN
ID BL1S4_HUMAN Reviewed; 217 AA.
AC Q9NUP1; Q6NVY6; Q96G84;
DT 29-AUG-2003, integrated into UniProtKB/Swiss-Prot.
DT 01-OCT-2000, sequence version 1.
DT 03-AUG-2022, entry version 137.
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 Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Placenta;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15815621; DOI=10.1038/nature03466;
RA Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P.,
RA Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C.,
RA Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L.,
RA Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A.,
RA Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J.,
RA Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M.,
RA Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T.,
RA Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S.,
RA Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
RA McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
RA Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S.,
RA Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C.,
RA Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M.,
RA Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C.,
RA Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J.,
RA Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X.,
RA Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M.,
RA Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
RA Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
RA Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H.,
RA Wilson R.K.;
RT "Generation and annotation of the DNA sequences of human chromosomes 2 and
RT 4.";
RL Nature 434:724-731(2005).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Placenta, and Uterus;
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 [4]
RP FUNCTION.
RX PubMed=17182842; DOI=10.1091/mbc.e06-12-1066;
RA Setty S.R., Tenza D., Truschel S.T., Chou E., Sviderskaya E.V., Theos A.C.,
RA Lamoreux M.L., Di Pietro S.M., Starcevic M., Bennett D.C.,
RA Dell'Angelica E.C., Raposo G., Marks M.S.;
RT "BLOC-1 is required for cargo-specific sorting from vacuolar early
RT endosomes toward lysosome-related organelles.";
RL Mol. Biol. Cell 18:768-780(2007).
RN [5]
RP IDENTIFICATION IN THE BLOC-1 COMPLEX, AND COMPOSITION OF THE BLOC-1
RP COMPLEX.
RX PubMed=22203680; DOI=10.1074/jbc.m111.325746;
RA Lee H.H., Nemecek D., Schindler C., Smith W.J., Ghirlando R., Steven A.C.,
RA Bonifacino J.S., Hurley J.H.;
RT "Assembly and architecture of biogenesis of lysosome-related organelles
RT complex-1 (BLOC-1).";
RL J. Biol. Chem. 287:5882-5890(2012).
RN [6]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-165, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma, and Erythroleukemia;
RX PubMed=23186163; DOI=10.1021/pr300630k;
RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA Mohammed S.;
RT "Toward a comprehensive characterization of a human cancer cell
RT phosphoproteome.";
RL J. Proteome Res. 12:260-271(2013).
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:17182842}.
CC -!- SUBUNIT: Interacts with BLOC1S5 and BLOC1S6 (By similarity). Component
CC of the biogenesis of lysosome-related organelles complex 1 (BLOC-1)
CC composed of BLOC1S1, BLOC1S2, BLOC1S3, BLOC1S4, BLOC1S5, BLOC1S6,
CC DTNBP1/BLOC1S7 and SNAPIN/BLOC1S8. Octamer composed of one copy each
CC BLOC1S1, BLOC1S2, BLOC1S3, BLOC1S4, BLOC1S5, BLOC1S6, DTNBP1/BLOC1S7
CC and SNAPIN/BLOC1S8. The BLOC-1 complex associates with the AP-3 protein
CC complex and membrane protein cargos. {ECO:0000250,
CC ECO:0000269|PubMed:22203680}.
CC -!- INTERACTION:
CC Q9NUP1; Q9UL45: BLOC1S6; NbExp=5; IntAct=EBI-465852, EBI-465781;
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
CC -!- SIMILARITY: Belongs to the BLOC1S4 family. {ECO:0000305}.
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DR EMBL; AK002092; BAA92080.1; -; mRNA.
DR EMBL; AC093323; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC067815; AAH67815.1; -; mRNA.
DR EMBL; BC001818; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; BC009890; -; NOT_ANNOTATED_CDS; mRNA.
DR CCDS; CCDS3393.1; -.
DR RefSeq; NP_060836.1; NM_018366.2.
DR AlphaFoldDB; Q9NUP1; -.
DR SMR; Q9NUP1; -.
DR BioGRID; 120611; 17.
DR ComplexPortal; CPX-1910; BLOC-1 complex.
DR CORUM; Q9NUP1; -.
DR IntAct; Q9NUP1; 10.
DR MINT; Q9NUP1; -.
DR STRING; 9606.ENSP00000318128; -.
DR iPTMnet; Q9NUP1; -.
DR PhosphoSitePlus; Q9NUP1; -.
DR BioMuta; BLOC1S4; -.
DR DMDM; 34395560; -.
DR EPD; Q9NUP1; -.
DR jPOST; Q9NUP1; -.
DR MassIVE; Q9NUP1; -.
DR MaxQB; Q9NUP1; -.
DR PaxDb; Q9NUP1; -.
DR PeptideAtlas; Q9NUP1; -.
DR PRIDE; Q9NUP1; -.
DR ProteomicsDB; 82702; -.
DR Antibodypedia; 22679; 67 antibodies from 19 providers.
DR DNASU; 55330; -.
DR Ensembl; ENST00000320776.5; ENSP00000318128.3; ENSG00000186222.5.
DR GeneID; 55330; -.
DR KEGG; hsa:55330; -.
DR MANE-Select; ENST00000320776.5; ENSP00000318128.3; NM_018366.3; NP_060836.1.
DR UCSC; uc003gjp.2; human.
DR CTD; 55330; -.
DR DisGeNET; 55330; -.
DR GeneCards; BLOC1S4; -.
DR HGNC; HGNC:24206; BLOC1S4.
DR HPA; ENSG00000186222; Low tissue specificity.
DR MIM; 605695; gene.
DR neXtProt; NX_Q9NUP1; -.
DR OpenTargets; ENSG00000186222; -.
DR PharmGKB; PA142672088; -.
DR VEuPathDB; HostDB:ENSG00000186222; -.
DR eggNOG; ENOG502S1N9; Eukaryota.
DR GeneTree; ENSGT00390000006790; -.
DR HOGENOM; CLU_096507_3_0_1; -.
DR InParanoid; Q9NUP1; -.
DR OMA; CTNIDDM; -.
DR OrthoDB; 1592082at2759; -.
DR PhylomeDB; Q9NUP1; -.
DR TreeFam; TF326629; -.
DR PathwayCommons; Q9NUP1; -.
DR Reactome; R-HSA-432722; Golgi Associated Vesicle Biogenesis.
DR SignaLink; Q9NUP1; -.
DR SIGNOR; Q9NUP1; -.
DR BioGRID-ORCS; 55330; 6 hits in 1075 CRISPR screens.
DR ChiTaRS; BLOC1S4; human.
DR GeneWiki; CNO_(gene); -.
DR GenomeRNAi; 55330; -.
DR Pharos; Q9NUP1; Tdark.
DR PRO; PR:Q9NUP1; -.
DR Proteomes; UP000005640; Chromosome 4.
DR RNAct; Q9NUP1; protein.
DR Bgee; ENSG00000186222; Expressed in ileal mucosa and 158 other tissues.
DR Genevisible; Q9NUP1; HS.
DR GO; GO:1904115; C:axon cytoplasm; IEA:GOC.
DR GO; GO:0031083; C:BLOC-1 complex; IDA:UniProtKB.
DR GO; GO:0005737; C:cytoplasm; ISS:UniProtKB.
DR GO; GO:0005829; C:cytosol; TAS:Reactome.
DR GO; GO:0008089; P:anterograde axonal transport; ISS:UniProtKB.
DR GO; GO:0048490; P:anterograde synaptic vesicle transport; ISS:UniProtKB.
DR GO; GO:0032438; P:melanosome organization; NAS:UniProtKB.
DR GO; GO:0050885; P:neuromuscular process controlling balance; IEA:Ensembl.
DR GO; GO:0031175; P:neuron projection development; ISS:UniProtKB.
DR GO; GO:0070527; P:platelet aggregation; IEA:Ensembl.
DR InterPro; IPR024857; Cappuccino.
DR PANTHER; PTHR16230; PTHR16230; 1.
PE 1: Evidence at protein level;
KW Coiled coil; Cytoplasm; Phosphoprotein; Reference proteome.
FT CHAIN 1..217
FT /note="Biogenesis of lysosome-related organelles complex 1
FT subunit 4"
FT /id="PRO_0000089975"
FT REGION 1..57
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 136..165
FT /evidence="ECO:0000255"
FT COMPBIAS 27..42
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 165
FT /note="Phosphothreonine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT CONFLICT 61
FT /note="L -> H (in Ref. 2; AAH67815)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 217 AA; 23351 MW; 46CFA7105DAF1071 CRC64;
MEGSFSDGGA LPEGLAEEAE PQGAAWSGDS GTVSQSHSSA SGPWEDEGAE DGAPGRDLPL
LRRAAAGYAA CLLPGAGARP EVEALDASLE DLLTRVDEFV GMLDMLRGDS SHVVSEGVPR
IHAKAAEMRR IYSRIDRLEA FVRMVGGRVA RMEEQVTKAE AELGTFPRAF KKLLHTMNVP
SLFSKSAPSR PQQAGYEAPV LFRTEDYFPC CSERPQL
