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Aliases for KXD1 Gene

Aliases for KXD1 Gene

  • KxDL Motif Containing 1 2 3 5
  • C19orf50 3 4
  • Chromosome 19 Open Reading Frame 50 2
  • KxDL Motif-Containing Protein 1 3
  • UPF0459 Protein C19orf50 3
  • C10orf50 3
  • MSTP096 3
  • BORCS4 3
  • MST096 3
  • KXDL 3

External Ids for KXD1 Gene

Previous HGNC Symbols for KXD1 Gene

  • C19orf50

Previous GeneCards Identifiers for KXD1 Gene

  • GC19P018669
  • GC19P018670

Summaries for KXD1 Gene

GeneCards Summary for KXD1 Gene

KXD1 (KxDL Motif Containing 1) is a Protein Coding gene.

UniProtKB/Swiss-Prot for KXD1 Gene

  • 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).

Additional gene information for KXD1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KXD1 Gene

Genomics for KXD1 Gene

Regulatory Elements for KXD1 Gene

Enhancers for KXD1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19H018372 2.1 FANTOM5 Ensembl ENCODE dbSUPER 18.9 -176.7 -176662 17 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF548 SP3 NFYC NR2C2AP ENSG00000268030 UPF1 ENSG00000268938 KIAA1683 MEF2B COLGALT1 SUGP2 MVB12A MAU2
GH19H018587 1.4 ENCODE dbSUPER 24 +31.7 31678 3 HNRNPUL1 HDGF MLX ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B SLC30A9 ENSG00000268030 UPF1 MAU2 NR2C2AP KIAA1683 ENSG00000268938 ENSG00000269191 ELL MEF2B KXD1
GH19H018436 1.6 Ensembl ENCODE dbSUPER 14.9 -118.3 -118260 6 HDGF PKNOX1 ZFP64 SIN3A FEZF1 ZNF2 ZBTB7B ZNF766 SP3 SP5 ENSG00000268030 NR2C2AP UPF1 KIAA1683 ENSG00000268938 MEF2B SSBP4 KXD1 ENSG00000268199 GATAD2A
GH19H018498 1.9 FANTOM5 Ensembl ENCODE dbSUPER 12 -53.5 -53451 11 FOXA2 MLX ARID4B DMAP1 YY1 ZNF121 GLIS2 GATA2 ZNF143 SP5 ELL SSBP4 FKBP8 KXD1 UBA52 REX1BD LRRC25 JUND IL12RB1 GC19M018475
GH19H017859 1.1 ENCODE 19.4 -694.9 -694940 7 HNRNPUL1 HDGF PKNOX1 FOXA2 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF207 ENSG00000268030 UPF1 KIAA1683 ENSG00000268938 HAUS8 MVB12A ENSG00000269191 RPL18A COLGALT1 ELL
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around KXD1 on UCSC Golden Path with GeneCards custom track

Promoters for KXD1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000108104 338 1401 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 YY1 ZNF766 ZNF143 SP3

Genomic Location for KXD1 Gene

Chromosome:
19
Start:
18,557,762 bp from pter
End:
18,569,387 bp from pter
Size:
11,626 bases
Orientation:
Plus strand

Genomic View for KXD1 Gene

Genes around KXD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KXD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KXD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KXD1 Gene

Proteins for KXD1 Gene

  • Protein details for KXD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BQD3-KXDL1_HUMAN
    Recommended name:
    KxDL motif-containing protein 1
    Protein Accession:
    Q9BQD3
    Secondary Accessions:
    • O76098

    Protein attributes for KXD1 Gene

    Size:
    176 amino acids
    Molecular mass:
    19668 Da
    Quaternary structure:
    • 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).
    SequenceCaution:
    • Sequence=AAC25583.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

neXtProt entry for KXD1 Gene

Post-translational modifications for KXD1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for KXD1 Gene

Domains & Families for KXD1 Gene

Gene Families for KXD1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for KXD1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for KXD1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9BQD3

UniProtKB/Swiss-Prot:

KXDL1_HUMAN :
  • Belongs to the KXD1 family.
Family:
  • Belongs to the KXD1 family.
genes like me logo Genes that share domains with KXD1: view

Function for KXD1 Gene

Molecular function for KXD1 Gene

UniProtKB/Swiss-Prot Function:
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).

Phenotypes From GWAS Catalog for KXD1 Gene

Gene Ontology (GO) - Molecular Function for KXD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16189514
genes like me logo Genes that share ontologies with KXD1: view
genes like me logo Genes that share phenotypes with KXD1: view

Animal Models for KXD1 Gene

MGI Knock Outs for KXD1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for KXD1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for KXD1 Gene

Localization for KXD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KXD1 Gene

Lysosome membrane.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KXD1 gene
Compartment Confidence
cytosol 5
lysosome 4
cytoskeleton 3
nucleus 3
extracellular 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Centrosome (2)
  • Cytosol (2)
  • Nucleoli fibrillar center (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for KXD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome IEA --
GO:0005765 lysosomal membrane IEA --
GO:0016020 membrane IEA --
GO:0031083 colocalizes_with BLOC-1 complex ISS --
GO:0099078 BORC complex IDA 25898167
genes like me logo Genes that share ontologies with KXD1: view

Pathways & Interactions for KXD1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for KXD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016192 vesicle-mediated transport ISS --
GO:0032418 lysosome localization IMP 25898167
genes like me logo Genes that share ontologies with KXD1: view

No data available for Pathways by source and SIGNOR curated interactions for KXD1 Gene

Drugs & Compounds for KXD1 Gene

No Compound Related Data Available

Transcripts for KXD1 Gene

Unigene Clusters for KXD1 Gene

KxDL motif containing 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for KXD1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for KXD1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8a · 8b · 8c ^ 9a · 9b · 9c · 9d ^ 10a · 10b · 10c
SP1: - - - - - - -
SP2: - - - - - - - -
SP3: - - - - - - -
SP4: - - - - - -
SP5: - - - - -
SP6: - - - -
SP7: - - - -
SP8: - - - - - -
SP9: -
SP10: - - - -

Relevant External Links for KXD1 Gene

GeneLoc Exon Structure for
KXD1
ECgene alternative splicing isoforms for
KXD1

Expression for KXD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KXD1 Gene

Protein differential expression in normal tissues from HIPED for KXD1 Gene

This gene is overexpressed in Pancreas (28.4), Blymphocyte (13.7), Ovary (6.4), and Retina (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for KXD1 Gene



Protein tissue co-expression partners for KXD1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of KXD1 Gene:

KXD1

SOURCE GeneReport for Unigene cluster for KXD1 Gene:

Hs.714548

Evidence on tissue expression from TISSUES for KXD1 Gene

  • Lung(4.3)
genes like me logo Genes that share expression patterns with KXD1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for KXD1 Gene

Orthologs for KXD1 Gene

This gene was present in the common ancestor of animals.

Orthologs for KXD1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KXD1 34
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KXD1 34 33
  • 90.91 (n)
OneToOne
cow
(Bos Taurus)
Mammalia KXD1 34 33
  • 90.72 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Kxd1 33 16 34
  • 84.09 (n)
rat
(Rattus norvegicus)
Mammalia Kxd1 33
  • 83.52 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 74 (a)
OneToMany
-- 34
  • 72 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia KXD1 34
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves KXD1 34
  • 72 (a)
OneToOne
C19ORF50 33
  • 70.83 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia kxd1 33
  • 68.47 (n)
zebrafish
(Danio rerio)
Actinopterygii kxd1 33 34
  • 70.37 (n)
Dr.15888 33
fruit fly
(Drosophila melanogaster)
Insecta CG10681 34
  • 29 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea C13F10.2 34
  • 24 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 38 (a)
OneToOne
Species where no ortholog for KXD1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for KXD1 Gene

ENSEMBL:
Gene Tree for KXD1 (if available)
TreeFam:
Gene Tree for KXD1 (if available)

Paralogs for KXD1 Gene

(1) SIMAP similar genes for KXD1 Gene using alignment to 8 proteins:

Pseudogenes.org Pseudogenes for KXD1 Gene

genes like me logo Genes that share paralogs with KXD1: view

No data available for Paralogs for KXD1 Gene

Variants for KXD1 Gene

Sequence variations from dbSNP and Humsavar for KXD1 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs1000428222 -- 18,559,522(+) TGTCA(A/G)TGAGG intron-variant, upstream-variant-2KB
rs1000428428 -- 18,563,628(+) CCTTC(C/G)AAGTA intron-variant, upstream-variant-2KB
rs1000520443 -- 18,567,483(+) GCTCA(C/T)GTGAC intron-variant
rs1000563849 -- 18,556,196(+) GATTT(-/TTG)TTGTT upstream-variant-2KB
rs1000927359 -- 18,556,923(+) GCTCC(C/T)GCCAC upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for KXD1 Gene

Variant ID Type Subtype PubMed ID
nsv1055794 CNV gain 25217958
nsv1061733 CNV gain 25217958
nsv833776 CNV loss 17160897

Variation tolerance for KXD1 Gene

Residual Variation Intolerance Score: 68.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.89; 83.75% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KXD1 Gene

Human Gene Mutation Database (HGMD)
KXD1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KXD1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KXD1 Gene

Disorders for KXD1 Gene

Relevant External Links for KXD1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KXD1

No disorders were found for KXD1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for KXD1 Gene

Publications for KXD1 Gene

  1. BORC, a multisubunit complex that regulates lysosome positioning. (PMID: 25898167) Pu J … Bonifacino JS (Developmental cell 2015) 3 4 60
  2. Yeast homologues of three BLOC-1 subunits highlight KxDL proteins as conserved interactors of BLOC-1. (PMID: 21159114) Hayes MJ … Levine TP (Traffic (Copenhagen, Denmark) 2011) 2 3 60
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60
  4. An inter-species protein-protein interaction network across vast evolutionary distance. (PMID: 27107014) Zhong Q … Vidal M (Molecular systems biology 2016) 3 60
  5. Widespread macromolecular interaction perturbations in human genetic disorders. (PMID: 25910212) Sahni N … Vidal M (Cell 2015) 3 60

Products for KXD1 Gene

Sources for KXD1 Gene

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