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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
  • 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. Diseases associated with KXD1 include Pancreatitis, Hereditary.

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).

No data available for Entrez Gene 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
GH19F018472 1.8 FANTOM5 Ensembl ENCODE 22.4 -76.4 -76374 16.8 MLX CREB3L1 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC KXD1 IFI30 ENSG00000268030 SSBP4 ELL ENSG00000268938 UBA52 UPF1 CRTC1 C19orf60
GH19F018372 1.9 FANTOM5 Ensembl ENCODE 18.9 -176.7 -176662 18.0 CREB3L1 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF548 ZNF263 ENSG00000268030 COLGALT1 UPF1 ENSG00000268938 MVB12A ENSG00000269191 KXD1 IFI30 GDF15 PGLS
GH19F018168 1.6 FANTOM5 ENCODE 18.9 -385.8 -385840 7.4 MLX CREB3L1 DMAP1 YBX1 YY1 ZNF143 ZNF263 SP3 NFYC TBX21 ENSG00000268030 ENSG00000268938 MVB12A UPF1 ENSG00000269191 COLGALT1 MPV17L2 KXD1 LRRC25 IFI30
GH19F018436 1.4 Ensembl ENCODE 14.9 -118.3 -118260 6.5 HDGF PKNOX1 ZFP64 SIN3A FEZF1 ZNF2 KLF13 SP3 SP5 MXD4 ENSG00000268030 UPF1 ENSG00000268938 COLGALT1 SSBP4 KXD1 ENSG00000268199 ENSG00000269191 ELL RFXANK
GH19F018492 1.7 FANTOM5 Ensembl ENCODE 12.1 -56.4 -56362 18.8 MLX ARID4B DMAP1 ZNF2 YY1 ZNF143 ZNF263 SP3 SP5 NFYC ELL SSBP4 FKBP8 UBA52 CRTC1 KXD1 C19orf60 ARRDC2 JUND IL12RB1
- 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
ENSR00001418327 338 1801 PKNOX1 ARNT WRNIP1 ARID4B SIN3A DMAP1 YY1 ZNF143 FOS 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

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).

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

Inhibitory RNA Products

Flow Cytometry Products

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

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

Transcripts for KXD1 Gene

Unigene Clusters for KXD1 Gene

KxDL motif containing 1:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

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 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
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 and mRNA Expression by UniProt/SwissProt 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 35
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KXD1 34 35
  • 90.91 (n)
cow
(Bos Taurus)
Mammalia KXD1 34 35
  • 90.72 (n)
mouse
(Mus musculus)
Mammalia Kxd1 34 16 35
  • 84.09 (n)
rat
(Rattus norvegicus)
Mammalia Kxd1 34
  • 83.52 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 74 (a)
OneToMany
-- 35
  • 72 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia KXD1 35
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves KXD1 35
  • 72 (a)
OneToOne
C19ORF50 34
  • 70.83 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia kxd1 34
  • 68.47 (n)
zebrafish
(Danio rerio)
Actinopterygii kxd1 34 35
  • 70.37 (n)
Dr.15888 34
fruit fly
(Drosophila melanogaster)
Insecta CG10681 35
  • 29 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea C13F10.2 35
  • 24 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 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
rs10416272 -- 18,560,277(+) tgcta(A/G)gatta intron-variant, utr-variant-5-prime
rs1053385 -- 18,569,251(-) CTTCA(A/G)AGAGG intron-variant, utr-variant-3-prime
rs10567432 -- 18,563,125(+) GACAA(-/TTC)TTCTT intron-variant, upstream-variant-2KB
rs10692700 -- 18,565,044(+) CCCAG(-/GGC)CCCAG intron-variant
rs11086116 -- 18,561,446(+) CTACT(C/T)GGGAG intron-variant

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

MalaCards: The human disease database

(1) MalaCards diseases for KXD1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
pancreatitis, hereditary
  • pancreatitis, chronic
- elite association - COSMIC cancer census association via MalaCards
Search KXD1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for KXD1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KXD1
genes like me logo Genes that share disorders with KXD1: view

No data available for 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 J.S. (Dev. Cell 2015) 3 4 64
  2. Yeast homologues of three BLOC-1 subunits highlight KxDL proteins as conserved interactors of BLOC-1. (PMID: 21159114) Hayes M.J. … Levine T.P. (Traffic 2011) 2 3 64
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64
  4. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3 64
  5. The BLOS1-interacting protein KXD1 is involved in the biogenesis of lysosome-related organelles. (PMID: 22554196) Yang Q. … Li W. (Traffic 2012) 3 64

Products for KXD1 Gene

Sources for KXD1 Gene

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