BORC5_HUMAN
ID BORC5_HUMAN Reviewed; 196 AA.
AC Q969J3; Q96QS5;
DT 26-FEB-2008, integrated into UniProtKB/Swiss-Prot.
DT 01-DEC-2001, sequence version 1.
DT 03-AUG-2022, entry version 147.
DE RecName: Full=BLOC-1-related complex subunit 5 {ECO:0000305};
DE AltName: Full=Loss of heterozygosity 12 chromosomal region 1 {ECO:0000312|HGNC:HGNC:17950};
DE AltName: Full=Myristoylated lysosomal protein {ECO:0000303|PubMed:25898167};
DE Short=Myrlysin {ECO:0000303|PubMed:25898167};
GN Name=BORCS5 {ECO:0000312|HGNC:HGNC:17950};
GN Synonyms=LOH12CR1 {ECO:0000312|HGNC:HGNC:17950};
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 [MRNA] (ISOFORMS 1 AND 2), AND TISSUE SPECIFICITY.
RX PubMed=11896457; DOI=10.1038/sj.ejhg.5200766;
RA Montpetit A., Boily G., Sinnett D.;
RT "A detailed transcriptional map of the chromosome 12p12 tumour suppressor
RT locus.";
RL Eur. J. Hum. Genet. 10:62-71(2002).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Ovary;
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Brain;
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 [5]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=16964243; DOI=10.1038/nbt1240;
RA Beausoleil S.A., Villen J., Gerber S.A., Rush J., Gygi S.P.;
RT "A probability-based approach for high-throughput protein phosphorylation
RT analysis and site localization.";
RL Nat. Biotechnol. 24:1285-1292(2006).
RN [6]
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 [7]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=19413330; DOI=10.1021/ac9004309;
RA Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.;
RT "Lys-N and trypsin cover complementary parts of the phosphoproteome in a
RT refined SCX-based approach.";
RL Anal. Chem. 81:4493-4501(2009).
RN [8]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-75, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Leukemic T-cell;
RX PubMed=19690332; DOI=10.1126/scisignal.2000007;
RA Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K.,
RA Rodionov V., Han D.K.;
RT "Quantitative phosphoproteomic analysis of T cell receptor signaling
RT reveals system-wide modulation of protein-protein interactions.";
RL Sci. Signal. 2:RA46-RA46(2009).
RN [9]
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 [10]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T.,
RA Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
RN [11]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21406692; DOI=10.1126/scisignal.2001570;
RA Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T.,
RA Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.;
RT "System-wide temporal characterization of the proteome and phosphoproteome
RT of human embryonic stem cell differentiation.";
RL Sci. Signal. 4:RS3-RS3(2011).
RN [12]
RP IDENTIFICATION BY 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 [13]
RP MYRISTOYLATION AT GLY-2, CLEAVAGE OF INITIATOR METHIONINE, AND
RP IDENTIFICATION BY MASS SPECTROMETRY.
RX PubMed=25807930; DOI=10.1002/anie.201500342;
RA Broncel M., Serwa R.A., Ciepla P., Krause E., Dallman M.J., Magee A.I.,
RA Tate E.W.;
RT "Multifunctional reagents for quantitative proteome-wide analysis of
RT protein modification in human cells and dynamic profiling of protein
RT lipidation during vertebrate development.";
RL Angew. Chem. Int. Ed. 54:5948-5951(2015).
RN [14]
RP FUNCTION, IDENTIFICATION OF THE BORC COMPLEX, INTERACTION WITH ARL8A;
RP KIF5A; KLC1 AND PLEKHM2, SUBCELLULAR LOCATION, TOPOLOGY, MYRISTOYLATION AT
RP GLY-2, TISSUE SPECIFICITY, AND MUTAGENESIS OF GLY-2.
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).
RN [15]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=25944712; DOI=10.1002/pmic.201400617;
RA Vaca Jacome A.S., Rabilloud T., Schaeffer-Reiss C., Rompais M., Ayoub D.,
RA Lane L., Bairoch A., Van Dorsselaer A., Carapito C.;
RT "N-terminome analysis of the human mitochondrial proteome.";
RL Proteomics 15:2519-2524(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 Thereby, it may indirectly play a role in cell spreading and motility.
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 (PubMed:25898167). Interacts with ARL8B, KIF5A, KLC1 and
CC PLEKHM2; links the lysosomal BORC complex to the microtubule plus-end-
CC directed kinesin motor (PubMed:25898167).
CC {ECO:0000269|PubMed:25898167}.
CC -!- INTERACTION:
CC Q969J3; A0A1B0GWI1: CCDC196; NbExp=3; IntAct=EBI-747707, EBI-10181422;
CC Q969J3; O14901: KLF11; NbExp=3; IntAct=EBI-747707, EBI-948266;
CC Q969J3; Q9UHX1: PUF60; NbExp=4; IntAct=EBI-747707, EBI-1053259;
CC -!- SUBCELLULAR LOCATION: Lysosome membrane {ECO:0000269|PubMed:25898167};
CC Lipid-anchor {ECO:0000269|PubMed:25898167}; Cytoplasmic side
CC {ECO:0000269|PubMed:25898167}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q969J3-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q969J3-2; Sequence=VSP_031254;
CC -!- TISSUE SPECIFICITY: Ubiquitously expressed (at protein level).
CC {ECO:0000269|PubMed:11896457, ECO:0000269|PubMed:25898167}.
CC -!- PTM: Myristoylation at Gly-2 mediates attachment to lysosome membranes.
CC {ECO:0000269|PubMed:25898167}.
CC -!- SIMILARITY: Belongs to the BORCS5 family. {ECO:0000305}.
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DR EMBL; AY037865; AAK71328.1; -; mRNA.
DR EMBL; AY037866; AAK71329.1; -; mRNA.
DR EMBL; AK075028; BAC11360.1; -; mRNA.
DR EMBL; CH471094; EAW96257.1; -; Genomic_DNA.
DR EMBL; CH471094; EAW96258.1; -; Genomic_DNA.
DR EMBL; BC013668; AAH13668.1; -; mRNA.
DR CCDS; CCDS81669.1; -. [Q969J3-2]
DR CCDS; CCDS8649.1; -. [Q969J3-1]
DR RefSeq; NP_001287671.1; NM_001300742.2.
DR RefSeq; NP_001317285.1; NM_001330356.1. [Q969J3-2]
DR RefSeq; NP_477517.1; NM_058169.5. [Q969J3-1]
DR AlphaFoldDB; Q969J3; -.
DR SMR; Q969J3; -.
DR BioGRID; 125600; 34.
DR ComplexPortal; CPX-5029; BORC complex.
DR CORUM; Q969J3; -.
DR IntAct; Q969J3; 15.
DR STRING; 9606.ENSP00000321546; -.
DR iPTMnet; Q969J3; -.
DR MetOSite; Q969J3; -.
DR PhosphoSitePlus; Q969J3; -.
DR BioMuta; BORCS5; -.
DR DMDM; 74731048; -.
DR EPD; Q969J3; -.
DR jPOST; Q969J3; -.
DR MassIVE; Q969J3; -.
DR MaxQB; Q969J3; -.
DR PaxDb; Q969J3; -.
DR PeptideAtlas; Q969J3; -.
DR PRIDE; Q969J3; -.
DR ProteomicsDB; 75773; -. [Q969J3-1]
DR ProteomicsDB; 75774; -. [Q969J3-2]
DR Antibodypedia; 23482; 160 antibodies from 21 providers.
DR DNASU; 118426; -.
DR Ensembl; ENST00000298571.6; ENSP00000298571.6; ENSG00000165714.11. [Q969J3-2]
DR Ensembl; ENST00000314565.9; ENSP00000321546.4; ENSG00000165714.11. [Q969J3-1]
DR Ensembl; ENST00000627374.3; ENSP00000486120.1; ENSG00000280689.3. [Q969J3-1]
DR Ensembl; ENST00000627461.1; ENSP00000486584.1; ENSG00000280689.3. [Q969J3-2]
DR GeneID; 118426; -.
DR KEGG; hsa:118426; -.
DR MANE-Select; ENST00000314565.9; ENSP00000321546.4; NM_058169.6; NP_477517.1.
DR UCSC; uc001ral.3; human. [Q969J3-1]
DR CTD; 118426; -.
DR DisGeNET; 118426; -.
DR GeneCards; BORCS5; -.
DR HGNC; HGNC:17950; BORCS5.
DR HPA; ENSG00000165714; Low tissue specificity.
DR MIM; 616598; gene.
DR neXtProt; NX_Q969J3; -.
DR OpenTargets; ENSG00000165714; -.
DR PharmGKB; PA30421; -.
DR VEuPathDB; HostDB:ENSG00000165714; -.
DR eggNOG; KOG4515; Eukaryota.
DR GeneTree; ENSGT00390000015016; -.
DR InParanoid; Q969J3; -.
DR OMA; RFSEIPR; -.
DR OrthoDB; 1446665at2759; -.
DR PhylomeDB; Q969J3; -.
DR TreeFam; TF316379; -.
DR PathwayCommons; Q969J3; -.
DR SignaLink; Q969J3; -.
DR BioGRID-ORCS; 118426; 36 hits in 1067 CRISPR screens.
DR ChiTaRS; BORCS5; human.
DR GenomeRNAi; 118426; -.
DR Pharos; Q969J3; Tdark.
DR PRO; PR:Q969J3; -.
DR Proteomes; UP000005640; Chromosome 12.
DR RNAct; Q969J3; protein.
DR Bgee; ENSG00000165714; Expressed in sural nerve and 99 other tissues.
DR ExpressionAtlas; Q969J3; baseline and differential.
DR Genevisible; Q969J3; HS.
DR GO; GO:0099078; C:BORC complex; IDA:UniProtKB.
DR GO; GO:0098574; C:cytoplasmic side of lysosomal membrane; IMP:UniProtKB.
DR GO; GO:0043231; C:intracellular membrane-bounded organelle; IDA:HPA.
DR GO; GO:0031224; C:intrinsic component of membrane; IMP:UniProtKB.
DR GO; GO:0005886; C:plasma membrane; IDA:HPA.
DR GO; GO:0030672; C:synaptic vesicle membrane; IBA:GO_Central.
DR GO; GO:0032418; P:lysosome localization; IMP:UniProtKB.
DR GO; GO:0072384; P:organelle transport along microtubule; IMP:UniProtKB.
DR GO; GO:1903744; P:positive regulation of anterograde synaptic vesicle transport; IBA:GO_Central.
DR GO; GO:0051036; P:regulation of endosome size; IC:ComplexPortal.
DR GO; GO:0062196; P:regulation of lysosome size; IC:ComplexPortal.
DR InterPro; IPR018780; TBORCS5.
DR PANTHER; PTHR31634; PTHR31634; 1.
DR Pfam; PF10158; LOH1CR12; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Lipoprotein; Lysosome; Membrane; Myristate;
KW Phosphoprotein; Reference proteome.
FT INIT_MET 1
FT /note="Removed"
FT /evidence="ECO:0000269|PubMed:25807930"
FT CHAIN 2..196
FT /note="BLOC-1-related complex subunit 5"
FT /id="PRO_0000318596"
FT REGION 1..32
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1..24
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 71
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q9D920"
FT MOD_RES 75
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:19690332"
FT LIPID 2
FT /note="N-myristoyl glycine"
FT /evidence="ECO:0000269|PubMed:25807930"
FT VAR_SEQ 20..67
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:11896457"
FT /id="VSP_031254"
FT VARIANT 41
FT /note="S -> C (in dbSNP:rs3741795)"
FT /id="VAR_038840"
FT VARIANT 191
FT /note="D -> N (in dbSNP:rs3751262)"
FT /id="VAR_038841"
FT MUTAGEN 2
FT /note="G->A: Loss of myristoylation and loss of
FT localization to lysosomal membranes."
FT /evidence="ECO:0000269|PubMed:25898167"
SQ SEQUENCE 196 AA; 22222 MW; CC369C1971B4FEB8 CRC64;
MGSEQSSEAE SRPNDLNSSV TPSPAKHRAK MDDIVVVAQG SQASRNVSND PDVIKLQEIP
TFQPLLKGLL SGQTSPTNAK LEKLDSQQVL QLCLRYQDHL HQCAEAVAFD QNALVKRIKE
MDLSVETLFS FMQERQKRYA KYAEQIQKVN EMSAILRRIQ MGIDQTVPLL DRLNSMLPEG
ERLEPFSMKP DRELRL
