KXDL1_HUMAN
ID KXDL1_HUMAN Reviewed; 176 AA.
AC Q9BQD3; O76098;
DT 24-JUL-2007, integrated into UniProtKB/Swiss-Prot.
DT 24-JUL-2007, sequence version 2.
DT 03-AUG-2022, entry version 151.
DE RecName: Full=KxDL motif-containing protein 1;
GN Name=KXD1; Synonyms=C19orf50;
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=15057824; DOI=10.1038/nature02399;
RA Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E.,
RA Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A.,
RA Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S.,
RA Carrano A.V., Caoile C., Chan Y.M., Christensen M., Cleland C.A.,
RA Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J.,
RA Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M.,
RA Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W.,
RA Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V.,
RA Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D.,
RA McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I.,
RA Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L.,
RA Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A.,
RA She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M.,
RA Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J.,
RA Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E.,
RA Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M.,
RA Rubin E.M., Lucas S.M.;
RT "The DNA sequence and biology of human chromosome 19.";
RL Nature 428:529-535(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT ALA-157.
RC TISSUE=Lung;
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 ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1, AND IDENTIFICATION BY MASS
RP SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=22814378; DOI=10.1073/pnas.1210303109;
RA Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A.,
RA Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E., Timmerman E.,
RA Prieto J., Arnesen T., Sherman F., Gevaert K., Aldabe R.;
RT "N-terminal acetylome analyses and functional insights of the N-terminal
RT acetyltransferase NatB.";
RL Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012).
RN [4]
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 (PubMed:25898167). May be involved in the biogenesis of lysosome-
CC related organelles such as melanosomes (By similarity).
CC {ECO:0000250|UniProtKB:Q80XH1, 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). Associates with the BLOC-1 complex. Interacts
CC with BLOC1S1. Interacts with DTNBP1/BLOC1S7 (via coiled-coil domain)
CC (By similarity). {ECO:0000250|UniProtKB:Q80XH1,
CC ECO:0000269|PubMed:25898167}.
CC -!- INTERACTION:
CC Q9BQD3; Q99819: ARHGDIG; NbExp=3; IntAct=EBI-739657, EBI-10295284;
CC Q9BQD3; Q96GS4: BORCS6; NbExp=4; IntAct=EBI-739657, EBI-10193358;
CC Q9BQD3; Q504U0: C4orf46; NbExp=6; IntAct=EBI-739657, EBI-6657981;
CC Q9BQD3; Q96LK0: CEP19; NbExp=7; IntAct=EBI-739657, EBI-741885;
CC Q9BQD3; Q92630: DYRK2; NbExp=3; IntAct=EBI-739657, EBI-749432;
CC Q9BQD3; Q14241: ELOA; NbExp=3; IntAct=EBI-739657, EBI-742350;
CC Q9BQD3; O00471: EXOC5; NbExp=3; IntAct=EBI-739657, EBI-949824;
CC Q9BQD3; Q9UPT5-1: EXOC7; NbExp=3; IntAct=EBI-739657, EBI-6251402;
CC Q9BQD3; Q9H0R8: GABARAPL1; NbExp=4; IntAct=EBI-739657, EBI-746969;
CC Q9BQD3; Q96CS2: HAUS1; NbExp=3; IntAct=EBI-739657, EBI-2514791;
CC Q9BQD3; Q8IY31: IFT20; NbExp=5; IntAct=EBI-739657, EBI-744203;
CC Q9BQD3; Q8WYH8: ING5; NbExp=4; IntAct=EBI-739657, EBI-488533;
CC Q9BQD3; Q14533: KRT81; NbExp=2; IntAct=EBI-739657, EBI-739648;
CC Q9BQD3; Q8TBB1: LNX1; NbExp=4; IntAct=EBI-739657, EBI-739832;
CC Q9BQD3; Q96CN5: LRRC45; NbExp=4; IntAct=EBI-739657, EBI-2805176;
CC Q9BQD3; Q8N8X9: MAB21L3; NbExp=3; IntAct=EBI-739657, EBI-10268010;
CC Q9BQD3; Q9H492: MAP1LC3A; NbExp=6; IntAct=EBI-739657, EBI-720768;
CC Q9BQD3; Q9GZQ8: MAP1LC3B; NbExp=4; IntAct=EBI-739657, EBI-373144;
CC Q9BQD3; Q96EZ8: MCRS1; NbExp=4; IntAct=EBI-739657, EBI-348259;
CC Q9BQD3; Q9H8S9: MOB1A; NbExp=4; IntAct=EBI-739657, EBI-748229;
CC Q9BQD3; P12883: MYH7; NbExp=3; IntAct=EBI-739657, EBI-519141;
CC Q9BQD3; Q9UJ41: RABGEF1; NbExp=2; IntAct=EBI-739657, EBI-913954;
CC Q9BQD3; P32969: RPL9P9; NbExp=3; IntAct=EBI-739657, EBI-358122;
CC Q9BQD3; Q15560: TCEA2; NbExp=3; IntAct=EBI-739657, EBI-710310;
CC Q9BQD3; P09493: TPM1; NbExp=4; IntAct=EBI-739657, EBI-351158;
CC Q9BQD3; P09493-5: TPM1; NbExp=3; IntAct=EBI-739657, EBI-10196387;
CC Q9BQD3; P09493-10: TPM1; NbExp=7; IntAct=EBI-739657, EBI-12123928;
CC Q9BQD3; P06753: TPM3; NbExp=11; IntAct=EBI-739657, EBI-355607;
CC Q9BQD3; Q5VU62: TPM3; NbExp=3; IntAct=EBI-739657, EBI-10184033;
CC Q9BQD3; Q8TAU3: ZNF417; NbExp=6; IntAct=EBI-739657, EBI-740727;
CC -!- SUBCELLULAR LOCATION: Lysosome membrane {ECO:0000305|PubMed:25898167}.
CC -!- SIMILARITY: Belongs to the KXD1 family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAC25583.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AC005253; AAC25583.1; ALT_INIT; Genomic_DNA.
DR EMBL; BC001080; AAH01080.1; -; mRNA.
DR EMBL; BC006479; AAH06479.1; -; mRNA.
DR CCDS; CCDS12381.1; -.
DR RefSeq; NP_001165419.1; NM_001171948.1.
DR RefSeq; NP_001165420.1; NM_001171949.1.
DR RefSeq; NP_076974.2; NM_024069.3.
DR RefSeq; XP_006722946.1; XM_006722883.2.
DR RefSeq; XP_011526574.1; XM_011528272.2.
DR RefSeq; XP_011526575.1; XM_011528273.2.
DR RefSeq; XP_016882770.1; XM_017027281.1.
DR AlphaFoldDB; Q9BQD3; -.
DR SMR; Q9BQD3; -.
DR BioGRID; 122501; 172.
DR ComplexPortal; CPX-5029; BORC complex.
DR CORUM; Q9BQD3; -.
DR IntAct; Q9BQD3; 60.
DR MINT; Q9BQD3; -.
DR STRING; 9606.ENSP00000472836; -.
DR iPTMnet; Q9BQD3; -.
DR PhosphoSitePlus; Q9BQD3; -.
DR BioMuta; KXD1; -.
DR DMDM; 156631010; -.
DR EPD; Q9BQD3; -.
DR jPOST; Q9BQD3; -.
DR MassIVE; Q9BQD3; -.
DR MaxQB; Q9BQD3; -.
DR PaxDb; Q9BQD3; -.
DR PeptideAtlas; Q9BQD3; -.
DR PRIDE; Q9BQD3; -.
DR ProteomicsDB; 78659; -.
DR Antibodypedia; 28095; 107 antibodies from 17 providers.
DR DNASU; 79036; -.
DR Ensembl; ENST00000222307.9; ENSP00000222307.3; ENSG00000105700.11.
DR Ensembl; ENST00000539106.5; ENSP00000438903.1; ENSG00000105700.11.
DR Ensembl; ENST00000540691.5; ENSP00000443549.1; ENSG00000105700.11.
DR Ensembl; ENST00000595073.5; ENSP00000471554.1; ENSG00000105700.11.
DR Ensembl; ENST00000599319.5; ENSP00000468990.1; ENSG00000105700.11.
DR Ensembl; ENST00000600654.5; ENSP00000472678.1; ENSG00000105700.11.
DR Ensembl; ENST00000602094.5; ENSP00000472836.1; ENSG00000105700.11.
DR GeneID; 79036; -.
DR KEGG; hsa:79036; -.
DR MANE-Select; ENST00000222307.9; ENSP00000222307.3; NM_024069.4; NP_076974.2.
DR UCSC; uc002njo.4; human.
DR CTD; 79036; -.
DR DisGeNET; 79036; -.
DR GeneCards; KXD1; -.
DR HGNC; HGNC:28420; KXD1.
DR HPA; ENSG00000105700; Low tissue specificity.
DR MIM; 615178; gene.
DR neXtProt; NX_Q9BQD3; -.
DR OpenTargets; ENSG00000105700; -.
DR PharmGKB; PA147358357; -.
DR VEuPathDB; HostDB:ENSG00000105700; -.
DR eggNOG; KOG3443; Eukaryota.
DR GeneTree; ENSGT00530000064192; -.
DR InParanoid; Q9BQD3; -.
DR OrthoDB; 1612645at2759; -.
DR PhylomeDB; Q9BQD3; -.
DR TreeFam; TF319035; -.
DR PathwayCommons; Q9BQD3; -.
DR SignaLink; Q9BQD3; -.
DR BioGRID-ORCS; 79036; 69 hits in 1075 CRISPR screens.
DR ChiTaRS; KXD1; human.
DR GenomeRNAi; 79036; -.
DR Pharos; Q9BQD3; Tdark.
DR PRO; PR:Q9BQD3; -.
DR Proteomes; UP000005640; Chromosome 19.
DR RNAct; Q9BQD3; protein.
DR Bgee; ENSG00000105700; Expressed in right coronary artery and 197 other tissues.
DR ExpressionAtlas; Q9BQD3; baseline and differential.
DR Genevisible; Q9BQD3; 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: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 GO; GO:0016192; P:vesicle-mediated transport; ISS: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..176
FT /note="KxDL motif-containing protein 1"
FT /id="PRO_0000295259"
FT REGION 95..176
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 117..149
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 1
FT /note="N-acetylmethionine"
FT /evidence="ECO:0007744|PubMed:22814378"
FT VARIANT 157
FT /note="P -> A (in dbSNP:rs7648)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_033282"
SQ SEQUENCE 176 AA; 19668 MW; 182BDB421BE2D3AA CRC64;
MDLPDSASRV FCGRILSMVN TDDVNAIILA QKNMLDRFEK TNEMLLNFNN LSSARLQQMS
ERFLHHTRTL VEMKRDLDSI FRRIRTLKGK LARQHPEAFS HIPEASFLEE EDEDPIPPST
TTTIATSEQS TGSCDTSPDT VSPSLSPGFE DLSHVQPGSP AINGRSQTDD EEMTGE
