BORC8_HUMAN
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 03-AUG-2022, entry version 125.
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}.
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; 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; 45.
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; Q96FH0; -.
DR PeptideAtlas; Q96FH0; -.
DR PRIDE; Q96FH0; -.
DR ProteomicsDB; 76530; -. [Q96FH0-1]
DR ProteomicsDB; 76531; -. [Q96FH0-2]
DR Antibodypedia; 47987; 92 antibodies from 13 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 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 GeneTree; ENSGT00940000160699; -.
DR HOGENOM; CLU_151479_0_0_1; -.
DR InParanoid; Q96FH0; -.
DR OMA; INIRDHM; -.
DR OrthoDB; 1473909at2759; -.
DR PhylomeDB; Q96FH0; -.
DR TreeFam; TF313931; -.
DR PathwayCommons; Q96FH0; -.
DR SignaLink; Q96FH0; -.
DR BioGRID-ORCS; 729991; 69 hits in 1066 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 175 other tissues.
DR ExpressionAtlas; Q96FH0; baseline and differential.
DR Genevisible; Q96FH0; 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:0007507; P:heart development; IEP:UniProtKB.
DR GO; GO:0032418; P:lysosome localization; IC:ComplexPortal.
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; IPR019320; BORCS8.
DR PANTHER; PTHR21146; PTHR21146; 1.
DR Pfam; PF10167; BORCS8; 1.
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
