• Gene id: 79036

Gene Summary

• Gene Symbol: KXD1   Gene   UCSC   Ensembl
• Aliases: BORCS4, C10orf50, C19orf50, KXDL, MST096, MSTP096
• Gene name: KxDL motif containing 1
• Alternate names: kxDL motif-containing protein 1, BLOC-1 related complex subunit 4, UPF0459 protein C19orf50,
• Gene location: 19p13.11 (18557761: 18569386)     Exons: 8     NC_000019.10
• OMIM: 615178

Protein Summary

• Protein general information: Q9BQD3  
  • Name: KxDL motif containing protein 1
  • Length: 176  
  • Mass: 19668
• Sequence:

  MDLPDSASRVFCGRILSMVNTDDVNAIILAQKNMLDRFEKTNEMLLNFNNLSSARLQQMSERFLHHTRTLVEMKR
  DLDSIFRRIRTLKGKLARQHPEAFSHIPEASFLEEEDEDPIPPSTTTTIATSEQSTGSCDTSPDTVSPSLSPGFE
  DLSHVQPGSPAINGRSQTDDEEMTGE

• Structural information:
  • Interpro: IPR039843  IPR019371  
  • STRING: ENSP00000472836
• Other Databases: GeneCards:  KXD1  Malacards:  KXD1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0099078	BORC complex	IBA	cellular component
GO:0032418	lysosome localization	IBA	biological process
GO:0031083	BLOC-1 complex	IBA	colocalizes with
GO:0099078	BORC complex	IDA	cellular component
GO:0032418	lysosome localization	IMP	biological process
GO:0031083	BLOC-1 complex	ISS	colocalizes with
GO:0016192	vesicle-mediated transport	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005764	lysosome	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0016192	vesicle-mediated transport	IEA	biological process
GO:0031083	BLOC-1 complex	IEA	cellular component
GO:0005765	lysosomal membrane	IEA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq