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

Gene ID: 75620, updated on 14-May-2024

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, Apr 2022]
Expression
Ubiquitous expression in kidney adult (RPKM 49.4), heart adult (RPKM 35.3) and 28 other tissues See more
Orthologs
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Genomic context

See Kxd1 in Genome Data Viewer
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_000074.7Genomic Context describing neighboring genes Neighboring gene RIKEN cDNA 4930522P08 gene Neighboring gene STARR-positive B cell enhancer ABC_E5013 Neighboring gene ubiquitin A-52 residue ribosomal protein fusion product 1 Neighboring gene STARR-seq mESC enhancer starr_21774 Neighboring gene STARR-positive B cell enhancer ABC_E9315 Neighboring gene FK506 binding protein 8 Neighboring gene predicted gene, 51534 Neighboring gene STARR-positive B cell enhancer ABC_E2264 Neighboring gene elongation factor RNA polymerase II

Genomic regions, transcripts, and products

Expression

  • 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

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (2) 
  • Targeted (1)  1 citation

General gene information

Markers

Potential readthrough

Included gene: Uba52

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 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 
located_in lysosome IEA
Inferred from Electronic Annotation
more info
 
located_in membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

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.

mRNA and Protein(s)

  1. NM_029366.2NP_083642.1  kxDL motif-containing protein 1

    See identical proteins and their annotated locations for NP_083642.1

    Status: VALIDATED

    Source sequence(s)
    AC157774, BC038552
    Consensus CDS
    CCDS52574.1
    UniProtKB/Swiss-Prot
    Q80XH1
    UniProtKB/TrEMBL
    G3X9Z9
    Related
    ENSMUSP00000091165.6, ENSMUST00000093456.12
    Conserved Domains (1) summary
    pfam10241
    Location:1493
    KxDL; Uncharacterized conserved protein

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000074.7 Reference GRCm39 C57BL/6J

    Range
    70966046..70975830 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)