ID   BORC8_HUMAN             Reviewed;         119 AA.
AC   Q96FH0; B2RXF9; Q9BT01;
DT   09-JAN-2007, integrated into UniProtKB/Swiss-Prot.
DT   01-DEC-2001, sequence version 1.
DT   24-JAN-2024, entry version 132.
DE   RecName: Full=BLOC-1-related complex subunit 8 {ECO:0000305};
DE   AltName: Full=MEF2B neighbor {ECO:0000312|HGNC:HGNC:37247};
GN   Name=BORCS8 {ECO:0000312|HGNC:HGNC:37247};
GN   Synonyms=MEF2BNB {ECO:0000312|HGNC:HGNC:37247};
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] (ISOFORMS 1 AND 2).
RC   TISSUE=Brain, and Lung carcinoma;
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   [2]
RP   PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-109, AND IDENTIFICATION BY
RP   MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC   TISSUE=Cervix carcinoma;
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   [3]
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:0000305|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       Q96FH0; O95994: AGR2; NbExp=3; IntAct=EBI-744076, EBI-712648;
CC       Q96FH0; P78358: CTAG1B; NbExp=5; IntAct=EBI-744076, EBI-1188472;
CC       Q96FH0; Q14696: MESD; NbExp=3; IntAct=EBI-744076, EBI-6165891;
CC       Q96FH0; Q8IYF3: TEX11; NbExp=5; IntAct=EBI-744076, EBI-742397;
CC       Q96FH0; Q8IYF3-3: TEX11; NbExp=5; IntAct=EBI-744076, EBI-11523345;
CC   -!- SUBCELLULAR LOCATION: Lysosome membrane {ECO:0000305|PubMed:25898167}.
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=2;
CC       Name=1;
CC         IsoId=Q96FH0-1; Sequence=Displayed;
CC       Name=2;
CC         IsoId=Q96FH0-2; Sequence=VSP_022103, VSP_022104;
CC   -!- SIMILARITY: Belongs to the BORCS8 family. {ECO:0000305}.
CC   -!- CAUTION: The gene for this protein is either identical to or adjacent
CC       to that of MEF2B. Some mRNAs that encode this protein also include
CC       MEF2B. {ECO:0000305}.
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DR   EMBL; BC004449; AAH04449.1; -; mRNA.
DR   EMBL; BC010931; -; NOT_ANNOTATED_CDS; mRNA.
DR   EMBL; BC157837; AAI57838.1; -; mRNA.
DR   EMBL; BC157868; AAI57869.1; -; mRNA.
DR   CCDS; CCDS46025.1; -. [Q96FH0-1]
DR   CCDS; CCDS54235.1; -. [Q96FH0-2]
DR   RefSeq; NP_001139255.1; NM_001145783.1. [Q96FH0-2]
DR   RefSeq; NP_001139256.1; NM_001145784.1. [Q96FH0-1]
DR   AlphaFoldDB; Q96FH0; -.
DR   SMR; Q96FH0; -.
DR   BioGRID; 610381; 46.
DR   ComplexPortal; CPX-5029; BORC complex.
DR   CORUM; Q96FH0; -.
DR   IntAct; Q96FH0; 9.
DR   STRING; 9606.ENSP00000425864; -.
DR   iPTMnet; Q96FH0; -.
DR   PhosphoSitePlus; Q96FH0; -.
DR   BioMuta; BORCS8; -.
DR   DMDM; 74731704; -.
DR   EPD; Q96FH0; -.
DR   jPOST; Q96FH0; -.
DR   MassIVE; Q96FH0; -.
DR   MaxQB; Q96FH0; -.
DR   PaxDb; 9606-ENSP00000425864; -.
DR   PeptideAtlas; Q96FH0; -.
DR   ProteomicsDB; 76530; -. [Q96FH0-1]
DR   ProteomicsDB; 76531; -. [Q96FH0-2]
DR   Pumba; Q96FH0; -.
DR   Antibodypedia; 47987; 98 antibodies from 14 providers.
DR   DNASU; 729991; -.
DR   Ensembl; ENST00000462790.8; ENSP00000425864.1; ENSG00000254901.8. [Q96FH0-1]
DR   Ensembl; ENST00000477565.3; ENSP00000424833.1; ENSG00000254901.8. [Q96FH0-2]
DR   Ensembl; ENST00000488252.6; ENSP00000467744.1; ENSG00000254901.8. [Q96FH0-1]
DR   GeneID; 729991; -.
DR   KEGG; hsa:729991; -.
DR   MANE-Select; ENST00000462790.8; ENSP00000425864.1; NM_001145784.2; NP_001139256.1.
DR   UCSC; uc002nlq.4; human. [Q96FH0-1]
DR   AGR; HGNC:37247; -.
DR   CTD; 729991; -.
DR   DisGeNET; 729991; -.
DR   GeneCards; BORCS8; -.
DR   HGNC; HGNC:37247; BORCS8.
DR   HPA; ENSG00000254901; Low tissue specificity.
DR   MIM; 616601; gene.
DR   neXtProt; NX_Q96FH0; -.
DR   OpenTargets; ENSG00000064489; -.
DR   OpenTargets; ENSG00000254901; -.
DR   VEuPathDB; HostDB:ENSG00000254901; -.
DR   eggNOG; KOG4523; Eukaryota.
DR   GeneTree; ENSGT00390000014856; -.
DR   HOGENOM; CLU_151479_0_0_1; -.
DR   InParanoid; Q96FH0; -.
DR   OMA; INIRDHM; -.
DR   OrthoDB; 11513at2759; -.
DR   PhylomeDB; Q96FH0; -.
DR   TreeFam; TF313931; -.
DR   PathwayCommons; Q96FH0; -.
DR   SignaLink; Q96FH0; -.
DR   BioGRID-ORCS; 729991; 75 hits in 1147 CRISPR screens.
DR   GenomeRNAi; 729991; -.
DR   Pharos; Q96FH0; Tdark.
DR   PRO; PR:Q96FH0; -.
DR   Proteomes; UP000005640; Chromosome 19.
DR   RNAct; Q96FH0; Protein.
DR   Bgee; ENSG00000254901; Expressed in prefrontal cortex and 177 other cell types or tissues.
DR   ExpressionAtlas; Q96FH0; baseline and differential.
DR   GO; GO:0099078; C:BORC complex; IDA:UniProtKB.
DR   GO; GO:0098574; C:cytoplasmic side of lysosomal membrane; NAS:ComplexPortal.
DR   GO; GO:0007507; P:heart development; IEP:UniProtKB.
DR   GO; GO:0032418; P:lysosome localization; NAS:ComplexPortal.
DR   GO; GO:0072384; P:organelle transport along microtubule; NAS:ComplexPortal.
DR   GO; GO:0051036; P:regulation of endosome size; NAS:ComplexPortal.
DR   GO; GO:0062196; P:regulation of lysosome size; NAS:ComplexPortal.
DR   InterPro; IPR019320; BORCS8.
DR   PANTHER; PTHR21146:SF0; BLOC-1-RELATED COMPLEX SUBUNIT 8; 1.
DR   PANTHER; PTHR21146; MEF2B PROTEIN; 1.
DR   Pfam; PF10167; BORCS8; 1.
DR   Genevisible; Q96FH0; HS.
PE   1: Evidence at protein level;
KW   Alternative splicing; Lysosome; Membrane; Phosphoprotein;
KW   Reference proteome.
FT   CHAIN           1..119
FT                   /note="BLOC-1-related complex subunit 8"
FT                   /id="PRO_0000269843"
FT   MOD_RES         109
FT                   /note="Phosphoserine"
FT                   /evidence="ECO:0007744|PubMed:23186163"
FT   VAR_SEQ         109
FT                   /note="S -> R (in isoform 2)"
FT                   /evidence="ECO:0000303|PubMed:15489334"
FT                   /id="VSP_022103"
FT   VAR_SEQ         110..119
FT                   /note="Missing (in isoform 2)"
FT                   /evidence="ECO:0000303|PubMed:15489334"
FT                   /id="VSP_022104"
SQ   SEQUENCE   119 AA;  13403 MW;  8D466C5E262FFA96 CRC64;
     MEEPEMQLKG KKVTDKFTES VYVLANEPSV ALYRLQEHVR RSLPELAQHK ADMQRWEEQS
     QGAIYTVEYA CSAVKNLVDS SVYFRSVEGL LKQAISIRDH MNASAQGHSP EEPPPPSSA
//