UniProtKB - Q9BQD3 (KXDL1_HUMAN)
Protein
KxDL motif-containing protein 1
Gene
KXD1
Organism
Homo sapiens (Human)
Status
Functioni
As part of the BORC complex may play a role in lysosomes movement and localization at the cell periphery. Associated with the cytosolic face of lysosomes, the BORC complex may recruit ARL8B and couple lysosomes to microtubule plus-end-directed kinesin motor (PubMed:25898167). May be involved in the biogenesis of lysosome-related organelles such as melanosomes (By similarity).By similarity1 Publication
GO - Biological processi
- lysosome localization Source: UniProtKB
- vesicle-mediated transport Source: UniProtKB
Enzyme and pathway databases
PathwayCommonsi | Q9BQD3 |
Names & Taxonomyi
Protein namesi | Recommended name: KxDL motif-containing protein 1 |
Gene namesi | Name:KXD1 Synonyms:C19orf50 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:28420, KXD1 |
MIMi | 615178, gene |
neXtProti | NX_Q9BQD3 |
VEuPathDBi | HostDB:ENSG00000105700.10 |
Subcellular locationi
Lysosome
- Lysosome membrane 1 Publication
Cytosol
- BORC complex Source: UniProtKB
Lysosome
- lysosomal membrane Source: UniProtKB-SubCell
Keywords - Cellular componenti
Lysosome, MembranePathology & Biotechi
Organism-specific databases
DisGeNETi | 79036 |
OpenTargetsi | ENSG00000105700 |
PharmGKBi | PA147358357 |
Miscellaneous databases
Pharosi | Q9BQD3, Tdark |
Genetic variation databases
BioMutai | KXD1 |
DMDMi | 156631010 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000295259 | 1 – 176 | KxDL motif-containing protein 1Add BLAST | 176 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 1 | N-acetylmethionineCombined sources | 1 |
Keywords - PTMi
AcetylationProteomic databases
EPDi | Q9BQD3 |
jPOSTi | Q9BQD3 |
MassIVEi | Q9BQD3 |
MaxQBi | Q9BQD3 |
PaxDbi | Q9BQD3 |
PeptideAtlasi | Q9BQD3 |
PRIDEi | Q9BQD3 |
ProteomicsDBi | 78659 |
PTM databases
iPTMneti | Q9BQD3 |
PhosphoSitePlusi | Q9BQD3 |
Expressioni
Gene expression databases
Bgeei | ENSG00000105700, Expressed in tibial artery and 240 other tissues |
ExpressionAtlasi | Q9BQD3, baseline and differential |
Genevisiblei | Q9BQD3, HS |
Organism-specific databases
HPAi | ENSG00000105700, Low tissue specificity |
Interactioni
Subunit structurei
Component of the BLOC-one-related complex (BORC) which is composed of BLOC1S1, BLOC1S2, BORCS5, BORCS6, BORCS7, BORCS8, KXD1 and SNAPIN (PubMed:25898167). Associates with the BLOC-1 complex.
Interacts with BLOC1S1.
Interacts with DTNBP1/BLOC1S7 (via coiled-coil domain) (By similarity).
By similarity1 PublicationBinary interactionsi
Hide detailsQ9BQD3
Protein-protein interaction databases
BioGRIDi | 122501, 62 interactors |
ComplexPortali | CPX-5029, BORC complex |
CORUMi | Q9BQD3 |
IntActi | Q9BQD3, 60 interactors |
MINTi | Q9BQD3 |
STRINGi | 9606.ENSP00000472836 |
Miscellaneous databases
RNActi | Q9BQD3, protein |
Family & Domainsi
Sequence similaritiesi
Belongs to the KXD1 family.Curated
Phylogenomic databases
eggNOGi | KOG3443, Eukaryota |
GeneTreei | ENSGT00530000064192 |
InParanoidi | Q9BQD3 |
OrthoDBi | 1612645at2759 |
PhylomeDBi | Q9BQD3 |
TreeFami | TF319035 |
Family and domain databases
InterProi | View protein in InterPro IPR039843, KXD1-like IPR019371, Uncharacterised_KxDL |
PANTHERi | PTHR13511, PTHR13511, 1 hit |
Pfami | View protein in Pfam PF10241, KxDL, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
This entry has 1 described isoform and 7 potential isoforms that are computationally mapped.Show allAlign All
Q9BQD3-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MDLPDSASRV FCGRILSMVN TDDVNAIILA QKNMLDRFEK TNEMLLNFNN
60 70 80 90 100
LSSARLQQMS ERFLHHTRTL VEMKRDLDSI FRRIRTLKGK LARQHPEAFS
110 120 130 140 150
HIPEASFLEE EDEDPIPPST TTTIATSEQS TGSCDTSPDT VSPSLSPGFE
160 170
DLSHVQPGSP AINGRSQTDD EEMTGE
Computationally mapped potential isoform sequencesi
There are 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketM0QY77 | M0QY77_HUMAN | KxDL motif-containing protein 1 | KXD1 | 195 | Annotation score: | ||
M0QX74 | M0QX74_HUMAN | KxDL motif-containing protein 1 | KXD1 | 136 | Annotation score: | ||
M0QXP3 | M0QXP3_HUMAN | KxDL motif-containing protein 1 | KXD1 | 167 | Annotation score: | ||
M0R228 | M0R228_HUMAN | KxDL motif-containing protein 1 | KXD1 | 131 | Annotation score: | ||
M0QXN9 | M0QXN9_HUMAN | KxDL motif-containing protein 1 | KXD1 | 74 | Annotation score: | ||
M0R0B4 | M0R0B4_HUMAN | KxDL motif-containing protein 1 | KXD1 | 85 | Annotation score: | ||
M0R2G3 | M0R2G3_HUMAN | KxDL motif-containing protein 1 | KXD1 | 128 | Annotation score: |
Sequence cautioni
The sequence AAC25583 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_033282 | 157 | P → A1 PublicationCorresponds to variant dbSNP:rs7648Ensembl. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AC005253 Genomic DNA Translation: AAC25583.1 Different initiation. BC001080 mRNA Translation: AAH01080.1 BC006479 mRNA Translation: AAH06479.1 |
CCDSi | CCDS12381.1 |
RefSeqi | NP_001165419.1, NM_001171948.1 NP_001165420.1, NM_001171949.1 NP_076974.2, NM_024069.3 XP_006722946.1, XM_006722883.2 XP_011526574.1, XM_011528272.2 XP_011526575.1, XM_011528273.2 XP_016882770.1, XM_017027281.1 |
Genome annotation databases
Similar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AC005253 Genomic DNA Translation: AAC25583.1 Different initiation. BC001080 mRNA Translation: AAH01080.1 BC006479 mRNA Translation: AAH06479.1 |
CCDSi | CCDS12381.1 |
RefSeqi | NP_001165419.1, NM_001171948.1 NP_001165420.1, NM_001171949.1 NP_076974.2, NM_024069.3 XP_006722946.1, XM_006722883.2 XP_011526574.1, XM_011528272.2 XP_011526575.1, XM_011528273.2 XP_016882770.1, XM_017027281.1 |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 122501, 62 interactors |
ComplexPortali | CPX-5029, BORC complex |
CORUMi | Q9BQD3 |
IntActi | Q9BQD3, 60 interactors |
MINTi | Q9BQD3 |
STRINGi | 9606.ENSP00000472836 |
PTM databases
iPTMneti | Q9BQD3 |
PhosphoSitePlusi | Q9BQD3 |
Genetic variation databases
BioMutai | KXD1 |
DMDMi | 156631010 |
Proteomic databases
EPDi | Q9BQD3 |
jPOSTi | Q9BQD3 |
MassIVEi | Q9BQD3 |
MaxQBi | Q9BQD3 |
PaxDbi | Q9BQD3 |
PeptideAtlasi | Q9BQD3 |
PRIDEi | Q9BQD3 |
ProteomicsDBi | 78659 |
Protocols and materials databases
Antibodypediai | 28095, 107 antibodies |
DNASUi | 79036 |
Genome annotation databases
Organism-specific databases
CTDi | 79036 |
DisGeNETi | 79036 |
GeneCardsi | KXD1 |
HGNCi | HGNC:28420, KXD1 |
HPAi | ENSG00000105700, Low tissue specificity |
MIMi | 615178, gene |
neXtProti | NX_Q9BQD3 |
OpenTargetsi | ENSG00000105700 |
PharmGKBi | PA147358357 |
VEuPathDBi | HostDB:ENSG00000105700.10 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3443, Eukaryota |
GeneTreei | ENSGT00530000064192 |
InParanoidi | Q9BQD3 |
OrthoDBi | 1612645at2759 |
PhylomeDBi | Q9BQD3 |
TreeFami | TF319035 |
Enzyme and pathway databases
PathwayCommonsi | Q9BQD3 |
Miscellaneous databases
BioGRID-ORCSi | 79036, 66 hits in 994 CRISPR screens |
ChiTaRSi | KXD1, human |
GenomeRNAii | 79036 |
Pharosi | Q9BQD3, Tdark |
PROi | PR:Q9BQD3 |
RNActi | Q9BQD3, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000105700, Expressed in tibial artery and 240 other tissues |
ExpressionAtlasi | Q9BQD3, baseline and differential |
Genevisiblei | Q9BQD3, HS |
Family and domain databases
InterProi | View protein in InterPro IPR039843, KXD1-like IPR019371, Uncharacterised_KxDL |
PANTHERi | PTHR13511, PTHR13511, 1 hit |
Pfami | View protein in Pfam PF10241, KxDL, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | KXDL1_HUMAN | |
Accessioni | Q9BQD3Primary (citable) accession number: Q9BQD3 Secondary accession number(s): O76098 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | July 24, 2007 |
Last sequence update: | July 24, 2007 | |
Last modified: | April 7, 2021 | |
This is version 146 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Uncharacterized protein families (UPF)
List of uncharacterized protein family (UPF) entries - Human chromosome 19
Human chromosome 19: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families