Kxd1 KxDL motif containing 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Kxd1provided by MGI
Official Full Name: KxDL motif containing 1provided by MGI
Primary source: MGI:MGI:1922870
See related: Ensembl:ENSMUSG00000055553 AllianceGenome:MGI:1922870
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: 0610030B01Rik; 2810422J05Rik
Summary: Involved in vesicle-mediated transport. Part of BLOC-1 complex. Used to study Hermansky-Pudlak syndrome. Orthologous to human KXD1 (KxDL motif containing 1). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in kidney adult (RPKM 49.4), heart adult (RPKM 35.3) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 8 B3.3; 8 34.15 cM

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	8	NC_000074.7 (70966046..70975830, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	8	NC_000074.6 (70513396..70523180, complement)

Chromosome 8 - NC_000074.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2)
Targeted (1) 1 citation

General gene information

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Markers

AA555564 (e-PCR)
- UniSTS:206909

BB157005 (e-PCR)
- UniSTS:185761

RH126344 (e-PCR)
- UniSTS:163052

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in lysosome localization	IBA Inferred from Biological aspect of Ancestor more info
involved_in lysosome localization	ISO Inferred from Sequence Orthology more info
involved_in lysosome localization	ISS Inferred from Sequence or Structural Similarity more info
involved_in lysosome localization	NAS Non-traceable Author Statement more info	PubMed
involved_in organelle transport along microtubule	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of endosome size	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of lysosome size	NAS Non-traceable Author Statement more info	PubMed
involved_in vesicle-mediated transport	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of BLOC-1 complex	IDA Inferred from Direct Assay more info	PubMed
part_of BORC complex	IBA Inferred from Biological aspect of Ancestor more info
part_of BORC complex	ISO Inferred from Sequence Orthology more info
located_in cytoplasmic side of lysosomal membrane	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: kxDL motif-containing protein 1

Names: UPF0459 protein C19orf50 homolog

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.