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6 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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KXD1
KxDL motif containing 1
Chromosome 19 · 19p13.11
NCBI Gene: 79036Ensembl: ENSG00000105700.12HGNC: HGNC:28420UniProt: Q9BQD3
36PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
BORC complexlysosome localizationprotein bindingBLOC-1 complexneurodegenerative diseaseParkinson diseaselysosomal storage diseasemultiple sclerosis
✦AI Summary

KXD1 (KxDL motif containing 1) is a BORC complex component that regulates lysosome positioning and transport. As part of the BORC complex, KXD1 associates with the cytosolic face of lysosomes and recruits ARL8B to couple lysosomes to microtubule plus-end-directed kinesin motors, facilitating lysosome movement toward the cell periphery 1. KXD1 also interacts with BLOS1, a shared subunit of BLOC-1 and BORC complexes involved in lysosomal trafficking and biogenesis of lysosome-related organelles such as melanosomes 2. KXD1 plays a critical role in pathogen-host interactions. The autophagy-resistant Mycobacterium tuberculosis Beijing strain upregulates KXD1 expression to suppress lysosome repositioning toward the perinuclear region and block lysosomal delivery to mycobacterial phagosomes during starvation-induced autophagy, enabling intracellular bacterial survival 34. Depletion of KXD1 and its partner Plekhm2 reverses this autophagy evasion, restoring lysosomal delivery and restricting bacterial survival. Clinically, KXD1 emerged as a candidate immunotherapy target in a pan-cancer stemness signature predictive of immunotherapy response 5. Additionally, changes in KXD1 expression were associated with improved response to nortriptyline antidepressant treatment 6. These findings suggest KXD1's broader involvement in cellular responses beyond lysosomal function.

Sources cited
1
KXD1 is part of BORC complex associated with cytosolic face of lysosomes, recruits ARL8B and couples lysosomes to kinesin motors
PMID: 25898167
2
KXD1 interacts with BLOS1 and is involved in lysosome-related organelles biogenesis including melanosomes; KXD1 knockout shows mild defects in retinal melanosomes and platelet dense granules
PMID: 22554196
3
M. tuberculosis Beijing strain upregulates KXD1 to suppress lysosome positioning toward perinuclear region and block lysosomal delivery to phagosomes; KXD1 depletion reverts this autophagy evasion
PMID: 33619301
4
KXD1 is a BORC complex component involved in autophagy evasion by M. tuberculosis Beijing strain through lysosome periphery positioning; depletion of KXD1-containing BORC components reverts autophagy avoidance
PMID: 36717601
5
KXD1 identified as potential immunotherapy target enriched in stemness signature predictive of immunotherapy response
PMID: 35488273
6
Changes in KXD1 expression associated with better response to nortriptyline antidepressant treatment
PMID: 26621261
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.38Weak
Alzheimer diseaseOpen Targets
0.18Weak
lysosomal storage diseaseOpen Targets
0.18Weak
multiple sclerosisOpen Targets
0.18Weak
Parkinson diseaseOpen Targets
0.18Weak
retinitis pigmentosaOpen Targets
0.06Suggestive
choroidal dystrophy, central areolar, 1Open Targets
0.06Suggestive
nephronophthisisOpen Targets
0.05Suggestive
retinitis pigmentosa 87 with choroidal involvementOpen Targets
0.04Suggestive
gastroesophageal reflux diseaseOpen Targets
0.04Suggestive
choroideremiaOpen Targets
0.04Suggestive
Leber congenital amaurosis 13Open Targets
0.04Suggestive
Familial drusenOpen Targets
0.04Suggestive
retinitis pigmentosa and erythrocytic microcytosisOpen Targets
0.04Suggestive
Cleft lip - retinopathyOpen Targets
0.04Suggestive
cleft lip-retinopathy syndromeOpen Targets
0.04Suggestive
retinitis pigmentosa 96Open Targets
0.04Suggestive
retinitis pigmentosa 86Open Targets
0.04Suggestive
Sorsby fundus dystrophyOpen Targets
0.04Suggestive
Sorsby's fundus dystrophyOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
UBA52Protein interaction100%RPL32Protein interaction100%ADRM1Protein interaction100%RNF4Protein interaction96%BORCS6Protein interaction92%BORCS7Protein interaction92%
Tissue Expression6 tissues
Lung
100%
Liver
97%
Ovary
91%
Brain
60%
Heart
58%
Bone Marrow
50%
Gene Interaction Network
Click a node to explore
KXD1UBA52RPL32ADRM1RNF4BORCS6BORCS7
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9BQD3
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.94LoF Tolerant
pLIⓘ
0.09Tolerant
Observed/Expected LoF0.50 [0.28–0.94]
RankingsWhere KXD1 stands among ~20K protein-coding genes
  • #10,809of 20,598
    Most Researched36
  • #8,789of 17,882
    Most Constrained (LOEUF)0.94
Genes detectedKXD1
Sources retrieved6 papers
Response time—
📄 Sources
6▼
1
Integrated analysis of single-cell and bulk RNA sequencing data reveals a pan-cancer stemness signature predicting immunotherapy response.
PMID: 35488273
Genome Med · 2022
1.00
2
Transcriptomics and the mechanisms of antidepressant efficacy.
PMID: 26621261
Eur Neuropsychopharmacol · 2016
0.83
3
BORC complex specific components and Kinesin-1 mediate autophagy evasion by the autophagy-resistant Mycobacterium tuberculosis Beijing strain.
PMID: 36717601
Sci Rep · 2023
0.67
4
Lysosome repositioning as an autophagy escape mechanism by Mycobacterium tuberculosis Beijing strain.
PMID: 33619301
Sci Rep · 2021
0.50
5
The BLOS1-interacting protein KXD1 is involved in the biogenesis of lysosome-related organelles.
PMID: 22554196
Traffic · 2012
0.33