KXDL1_MOUSE
ID KXDL1_MOUSE Reviewed; 177 AA.
AC Q80XH1;
DT 24-JUL-2007, integrated into UniProtKB/Swiss-Prot.
DT 01-JUN-2003, sequence version 1.
DT 03-AUG-2022, entry version 99.
DE RecName: Full=KxDL motif-containing protein 1;
GN Name=Kxd1;
OS Mus musculus (Mouse).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae;
OC Murinae; Mus; Mus.
OX NCBI_TaxID=10090;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC STRAIN=FVB/N; TISSUE=Colon;
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 IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Brain;
RX PubMed=21183079; DOI=10.1016/j.cell.2010.12.001;
RA Huttlin E.L., Jedrychowski M.P., Elias J.E., Goswami T., Rad R.,
RA Beausoleil S.A., Villen J., Haas W., Sowa M.E., Gygi S.P.;
RT "A tissue-specific atlas of mouse protein phosphorylation and expression.";
RL Cell 143:1174-1189(2010).
RN [3]
RP FUNCTION, ASSOCIATION WITH THE BLOC-1 COMPLEX, INTERACTION WITH BLOC1S1 AND
RP DTNBP1, DISRUPTION PHENOTYPE, AND TISSUE SPECIFICITY.
RX PubMed=22554196; DOI=10.1111/j.1600-0854.2012.01375.x;
RA Yang Q., He X., Yang L., Zhou Z., Cullinane A.R., Wei A., Zhang Z., Hao Z.,
RA Zhang A., He M., Feng Y., Gao X., Gahl W.A., Huizing M., Li W.;
RT "The BLOS1-interacting protein KXD1 is involved in the biogenesis of
RT lysosome-related organelles.";
RL Traffic 13:1160-1169(2012).
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 (By
CC similarity). May also be involved in the biogenesis of lysosome-related
CC organelles such as melanosomes (PubMed:22554196).
CC {ECO:0000250|UniProtKB:Q9BQD3, ECO:0000269|PubMed:22554196}.
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 (By similarity). Associates with the BLOC-1 complex. Interacts
CC with BLOC1S1. Interacts with DTNBP1/BLOC1S7 (via coiled-coil domain)
CC (PubMed:22554196). {ECO:0000250|UniProtKB:Q9BQD3,
CC ECO:0000269|PubMed:22554196}.
CC -!- SUBCELLULAR LOCATION: Lysosome membrane {ECO:0000250|UniProtKB:Q9BQD3}.
CC -!- TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:22554196}.
CC -!- DISRUPTION PHENOTYPE: Show defects in the lysosome-related organelles
CC (LRO) biogenesis, mimicking mildly the human Hermansky-Pudlak syndrome
CC (HPS). {ECO:0000269|PubMed:22554196}.
CC -!- SIMILARITY: Belongs to the KXD1 family. {ECO:0000305}.
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DR EMBL; BC048938; AAH48938.1; -; mRNA.
DR CCDS; CCDS52574.1; -.
DR RefSeq; NP_083642.1; NM_029366.2.
DR AlphaFoldDB; Q80XH1; -.
DR SMR; Q80XH1; -.
DR ComplexPortal; CPX-5061; BORC complex.
DR STRING; 10090.ENSMUSP00000091165; -.
DR iPTMnet; Q80XH1; -.
DR PhosphoSitePlus; Q80XH1; -.
DR EPD; Q80XH1; -.
DR MaxQB; Q80XH1; -.
DR PaxDb; Q80XH1; -.
DR PRIDE; Q80XH1; -.
DR ProteomicsDB; 264901; -.
DR DNASU; 75620; -.
DR Ensembl; ENSMUST00000093456; ENSMUSP00000091165; ENSMUSG00000055553.
DR GeneID; 75620; -.
DR KEGG; mmu:75620; -.
DR UCSC; uc009man.2; mouse.
DR CTD; 79036; -.
DR MGI; MGI:1922870; Kxd1.
DR VEuPathDB; HostDB:ENSMUSG00000055553; -.
DR eggNOG; KOG3443; Eukaryota.
DR GeneTree; ENSGT00940000153593; -.
DR HOGENOM; CLU_094353_3_0_1; -.
DR InParanoid; Q80XH1; -.
DR OrthoDB; 1612645at2759; -.
DR TreeFam; TF319035; -.
DR BioGRID-ORCS; 75620; 5 hits in 57 CRISPR screens.
DR ChiTaRS; Kxd1; mouse.
DR PRO; PR:Q80XH1; -.
DR Proteomes; UP000000589; Chromosome 8.
DR RNAct; Q80XH1; protein.
DR Bgee; ENSMUSG00000055553; Expressed in morula and 221 other tissues.
DR ExpressionAtlas; Q80XH1; baseline and differential.
DR Genevisible; Q80XH1; MM.
DR GO; GO:0099078; C:BORC complex; ISO:MGI.
DR GO; GO:0098574; C:cytoplasmic side of lysosomal membrane; IC:ComplexPortal.
DR GO; GO:0032418; P:lysosome localization; ISS: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 GO; GO:0016192; P:vesicle-mediated transport; IMP:UniProtKB.
DR InterPro; IPR039843; KXD1-like.
DR InterPro; IPR019371; Uncharacterised_KxDL.
DR PANTHER; PTHR13511; PTHR13511; 1.
DR Pfam; PF10241; KxDL; 1.
PE 1: Evidence at protein level;
KW Acetylation; Lysosome; Membrane; Reference proteome.
FT CHAIN 1..177
FT /note="KxDL motif-containing protein 1"
FT /id="PRO_0000295260"
FT REGION 100..177
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 119..149
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 1
FT /note="N-acetylmethionine"
FT /evidence="ECO:0000250|UniProtKB:Q9BQD3"
SQ SEQUENCE 177 AA; 19977 MW; 01B9251F2CD27C18 CRC64;
MDTPDSASRV FCGRFLSMVN TDDVNAIILA QKNMLDRFEK TNEMLLNFNN LSSVRLQQMS
ERFMHHTRTL VDMKRDLDSI FRRIRTLKGK LARQHPEAFS HIPEGSFLED EDEDPIPPSI
TTTIATSEQS TGSCDTSPDT VSPSLSPGFE DLSHIQPGSP AINGHRQTDD EEETHEE
