BORC6_HUMAN
ID BORC6_HUMAN Reviewed; 357 AA.
AC Q96GS4; Q53HS4; Q9NXW8;
DT 15-MAY-2007, integrated into UniProtKB/Swiss-Prot.
DT 18-MAY-2010, sequence version 2.
DT 03-AUG-2022, entry version 131.
DE RecName: Full=BLOC-1-related complex subunit 6 {ECO:0000305};
DE AltName: Full=Lysosome-dispersing protein {ECO:0000303|PubMed:25898167};
DE Short=Lyspersin {ECO:0000303|PubMed:25898167};
GN Name=BORCS6 {ECO:0000312|HGNC:HGNC:25939};
GN Synonyms=C17orf59 {ECO:0000312|HGNC:HGNC:25939};
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 GENOMIC DNA].
RX PubMed=16625196; DOI=10.1038/nature04689;
RA Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R.,
RA Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A.,
RA Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J.,
RA Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J.,
RA DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S.,
RA Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E.,
RA Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K.,
RA LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J.,
RA Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A.,
RA Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K.,
RA Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D.,
RA Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A.,
RA Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.;
RT "DNA sequence of human chromosome 17 and analysis of rearrangement in the
RT human lineage.";
RL Nature 440:1045-1049(2006).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Lung, Ovary, and Skin;
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 NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 24-357.
RC TISSUE=Adipose tissue;
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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 24-357.
RC TISSUE=Adipose tissue;
RA Suzuki Y., Sugano S., Totoki Y., Toyoda A., Takeda T., Sakaki Y.,
RA Tanaka A., Yokoyama S.;
RL Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-196 AND SER-199, AND
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=18669648; DOI=10.1073/pnas.0805139105;
RA Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E.,
RA Elledge S.J., Gygi S.P.;
RT "A quantitative atlas of mitotic phosphorylation.";
RL Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008).
RN [6]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=20068231; DOI=10.1126/scisignal.2000475;
RA Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L.,
RA Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.;
RT "Quantitative phosphoproteomics reveals widespread full phosphorylation
RT site occupancy during mitosis.";
RL Sci. Signal. 3:RA3-RA3(2010).
RN [7]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-168; THR-196 AND SER-199, AND
RP IDENTIFICATION BY 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).
RN [8]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-196, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Liver;
RX PubMed=24275569; DOI=10.1016/j.jprot.2013.11.014;
RA Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L.,
RA Ye M., Zou H.;
RT "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver
RT phosphoproteome.";
RL J. Proteomics 96:253-262(2014).
RN [9]
RP FUNCTION, IDENTIFICATION OF THE BORC COMPLEX, AND SUBCELLULAR LOCATION.
RX PubMed=25898167; DOI=10.1016/j.devcel.2015.02.011;
RA Pu J., Schindler C., Jia R., Jarnik M., Backlund P., Bonifacino J.S.;
RT "BORC, a multisubunit complex that regulates lysosome positioning.";
RL Dev. Cell 33:176-188(2015).
CC -!- FUNCTION: As part of the BORC complex may play a role in lysosomes
CC movement and localization at the cell periphery. Associated with the
CC cytosolic face of lysosomes, the BORC complex may recruit ARL8B and
CC couple lysosomes to microtubule plus-end-directed kinesin motor.
CC {ECO:0000269|PubMed:25898167}.
CC -!- SUBUNIT: Component of the BLOC-one-related complex (BORC) which is
CC composed of BLOC1S1, BLOC1S2, BORCS5, BORCS6, BORCS7, BORCS8, KXD1 and
CC SNAPIN. {ECO:0000269|PubMed:25898167}.
CC -!- INTERACTION:
CC Q96GS4; Q9NYB9-2: ABI2; NbExp=5; IntAct=EBI-10193358, EBI-11096309;
CC Q96GS4; Q9BXY8: BEX2; NbExp=3; IntAct=EBI-10193358, EBI-745073;
CC Q96GS4; Q96GS4: BORCS6; NbExp=3; IntAct=EBI-10193358, EBI-10193358;
CC Q96GS4; Q9UFG5: C19orf25; NbExp=3; IntAct=EBI-10193358, EBI-741214;
CC Q96GS4; Q9NX04: C1orf109; NbExp=3; IntAct=EBI-10193358, EBI-8643161;
CC Q96GS4; Q8TAB5: C1orf216; NbExp=3; IntAct=EBI-10193358, EBI-747505;
CC Q96GS4; Q8TD31-3: CCHCR1; NbExp=3; IntAct=EBI-10193358, EBI-10175300;
CC Q96GS4; Q13561: DCTN2; NbExp=3; IntAct=EBI-10193358, EBI-715074;
CC Q96GS4; Q9NRI5-2: DISC1; NbExp=4; IntAct=EBI-10193358, EBI-11988027;
CC Q96GS4; Q12929: EPS8; NbExp=3; IntAct=EBI-10193358, EBI-375576;
CC Q96GS4; Q8IYI6: EXOC8; NbExp=3; IntAct=EBI-10193358, EBI-742102;
CC Q96GS4; Q9NQT4: EXOSC5; NbExp=3; IntAct=EBI-10193358, EBI-371876;
CC Q96GS4; Q96MY7: FAM161B; NbExp=3; IntAct=EBI-10193358, EBI-7225287;
CC Q96GS4; Q8IZT9: FAM9C; NbExp=3; IntAct=EBI-10193358, EBI-2870039;
CC Q96GS4; Q9H4M3: FBXO44; NbExp=4; IntAct=EBI-10193358, EBI-2322644;
CC Q96GS4; Q9H4M3-2: FBXO44; NbExp=8; IntAct=EBI-10193358, EBI-12104696;
CC Q96GS4; O94868-3: FCHSD2; NbExp=4; IntAct=EBI-10193358, EBI-11958845;
CC Q96GS4; O95995: GAS8; NbExp=3; IntAct=EBI-10193358, EBI-1052570;
CC Q96GS4; Q96CS2: HAUS1; NbExp=3; IntAct=EBI-10193358, EBI-2514791;
CC Q96GS4; O14964: HGS; NbExp=3; IntAct=EBI-10193358, EBI-740220;
CC Q96GS4; Q2T9L4: INSYN1; NbExp=3; IntAct=EBI-10193358, EBI-4311436;
CC Q96GS4; Q63ZY3: KANK2; NbExp=3; IntAct=EBI-10193358, EBI-2556193;
CC Q96GS4; Q9BQD3: KXD1; NbExp=4; IntAct=EBI-10193358, EBI-739657;
CC Q96GS4; Q9Y2Q5: LAMTOR2; NbExp=4; IntAct=EBI-10193358, EBI-2643704;
CC Q96GS4; Q8TBB1: LNX1; NbExp=3; IntAct=EBI-10193358, EBI-739832;
CC Q96GS4; Q13503: MED21; NbExp=3; IntAct=EBI-10193358, EBI-394678;
CC Q96GS4; P00540: MOS; NbExp=4; IntAct=EBI-10193358, EBI-1757866;
CC Q96GS4; Q9GZM8: NDEL1; NbExp=3; IntAct=EBI-10193358, EBI-928842;
CC Q96GS4; Q96HA8: NTAQ1; NbExp=3; IntAct=EBI-10193358, EBI-741158;
CC Q96GS4; P55347: PKNOX1; NbExp=4; IntAct=EBI-10193358, EBI-1373569;
CC Q96GS4; Q9P2K3-2: RCOR3; NbExp=3; IntAct=EBI-10193358, EBI-1504830;
CC Q96GS4; Q8N443: RIBC1; NbExp=3; IntAct=EBI-10193358, EBI-10265323;
CC Q96GS4; Q149N8: SHPRH; NbExp=3; IntAct=EBI-10193358, EBI-714105;
CC Q96GS4; Q9NZD8: SPG21; NbExp=3; IntAct=EBI-10193358, EBI-742688;
CC Q96GS4; B2RWP4: TACC2; NbExp=6; IntAct=EBI-10193358, EBI-14211313;
CC Q96GS4; Q8N6Y0: USHBP1; NbExp=3; IntAct=EBI-10193358, EBI-739895;
CC Q96GS4; Q8N1B4: VPS52; NbExp=3; IntAct=EBI-10193358, EBI-2799833;
CC Q96GS4; Q8N720: ZNF655; NbExp=3; IntAct=EBI-10193358, EBI-625509;
CC -!- SUBCELLULAR LOCATION: Lysosome membrane {ECO:0000305|PubMed:25898167}.
CC -!- SIMILARITY: Belongs to the BORCS6 family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH09261.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=AAH18880.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=AAH70272.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=BAA90889.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=BAD96226.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AC129492; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC009261; AAH09261.1; ALT_INIT; mRNA.
DR EMBL; BC018880; AAH18880.1; ALT_INIT; mRNA.
DR EMBL; BC070272; AAH70272.1; ALT_INIT; mRNA.
DR EMBL; AK000021; BAA90889.1; ALT_INIT; mRNA.
DR EMBL; AK222506; BAD96226.1; ALT_INIT; mRNA.
DR CCDS; CCDS11133.2; -.
DR RefSeq; NP_060092.2; NM_017622.2.
DR AlphaFoldDB; Q96GS4; -.
DR BioGRID; 120149; 172.
DR ComplexPortal; CPX-5029; BORC complex.
DR CORUM; Q96GS4; -.
DR DIP; DIP-29465N; -.
DR IntAct; Q96GS4; 77.
DR STRING; 9606.ENSP00000373669; -.
DR iPTMnet; Q96GS4; -.
DR MetOSite; Q96GS4; -.
DR PhosphoSitePlus; Q96GS4; -.
DR BioMuta; BORCS6; -.
DR DMDM; 296434462; -.
DR EPD; Q96GS4; -.
DR jPOST; Q96GS4; -.
DR MassIVE; Q96GS4; -.
DR MaxQB; Q96GS4; -.
DR PaxDb; Q96GS4; -.
DR PeptideAtlas; Q96GS4; -.
DR PRIDE; Q96GS4; -.
DR ProteomicsDB; 76660; -.
DR Antibodypedia; 47971; 112 antibodies from 17 providers.
DR DNASU; 54785; -.
DR Ensembl; ENST00000389017.6; ENSP00000373669.4; ENSG00000196544.8.
DR GeneID; 54785; -.
DR KEGG; hsa:54785; -.
DR MANE-Select; ENST00000389017.6; ENSP00000373669.4; NM_017622.3; NP_060092.2.
DR UCSC; uc010vut.3; human.
DR CTD; 54785; -.
DR GeneCards; BORCS6; -.
DR HGNC; HGNC:25939; BORCS6.
DR HPA; ENSG00000196544; Low tissue specificity.
DR MIM; 616599; gene.
DR neXtProt; NX_Q96GS4; -.
DR OpenTargets; ENSG00000196544; -.
DR PharmGKB; PA142672242; -.
DR VEuPathDB; HostDB:ENSG00000196544; -.
DR eggNOG; KOG4514; Eukaryota.
DR GeneTree; ENSGT00490000043453; -.
DR HOGENOM; CLU_782948_0_0_1; -.
DR InParanoid; Q96GS4; -.
DR OMA; RHKDPAP; -.
DR OrthoDB; 1229804at2759; -.
DR PhylomeDB; Q96GS4; -.
DR PathwayCommons; Q96GS4; -.
DR SignaLink; Q96GS4; -.
DR BioGRID-ORCS; 54785; 15 hits in 1049 CRISPR screens.
DR ChiTaRS; BORCS6; human.
DR GenomeRNAi; 54785; -.
DR Pharos; Q96GS4; Tdark.
DR PRO; PR:Q96GS4; -.
DR Proteomes; UP000005640; Chromosome 17.
DR RNAct; Q96GS4; protein.
DR Bgee; ENSG00000196544; Expressed in granulocyte and 153 other tissues.
DR Genevisible; Q96GS4; HS.
DR GO; GO:0099078; C:BORC complex; IDA:UniProtKB.
DR GO; GO:0098574; C:cytoplasmic side of lysosomal membrane; IC:ComplexPortal.
DR GO; GO:0042802; F:identical protein binding; IPI:IntAct.
DR GO; GO:0032418; P:lysosome localization; IMP:UniProtKB.
DR GO; GO:0072384; P:organelle transport along microtubule; IC:ComplexPortal.
DR GO; GO:0051036; P:regulation of endosome size; IC:ComplexPortal.
DR GO; GO:0062196; P:regulation of lysosome size; IC:ComplexPortal.
DR InterPro; IPR019314; BORCS6.
DR PANTHER; PTHR13440; PTHR13440; 1.
DR Pfam; PF10157; BORCS6; 1.
PE 1: Evidence at protein level;
KW Lysosome; Membrane; Phosphoprotein; Reference proteome.
FT CHAIN 1..357
FT /note="BLOC-1-related complex subunit 6"
FT /id="PRO_0000286827"
FT REGION 20..196
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 227..256
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 228..256
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 168
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 196
FT /note="Phosphothreonine"
FT /evidence="ECO:0007744|PubMed:18669648,
FT ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569"
FT MOD_RES 199
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:18669648,
FT ECO:0007744|PubMed:23186163"
FT CONFLICT 202
FT /note="E -> K (in Ref. 3; BAA90889)"
FT /evidence="ECO:0000305"
FT CONFLICT 336
FT /note="Q -> R (in Ref. 3; BAA90889 and 4; BAD96226)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 357 AA; 37226 MW; BBA89770528FA9E9 CRC64;
MESSRGRPGP ETDLLAVAEH QALVFGGGPG RTSSEPPAGL RVSGEEETEN VGGANRHPRT
SPKTSSCGVV HRPEREALEN EPGPQGTLSG AGSRRGAPGA EHEPSLSSRH KNPAPPEGKP
SSGRDCRRGG PGGGMDVEQQ EEEDNDEEAA AGSRAGRSFS SRLQDSRSLD GLSEACGGAG
SSGSAESGAG GGRRATISSP LELEGTVSRH GDLTHFVANN LQLKIRLSGA PPPPPSAPAR
PCPAPAPTPT PAIPPIDPEV LRDLERLSRE LGGRVDRLLR GLGGAVQELT ALSVGCIQTY
RDAVDSLGEA VDMSIKGMYT LLARCEELER ALQPVQGLAR QVRDIRRTLE VLEALCK
