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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
  • 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.

UniProtKB/Swiss-Prot for KXD1 Gene

  • Involved in endosomal cargo sorting.

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

Promoters for KXD1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around KXD1 on UCSC Golden Path with GeneCards custom track

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:
    • 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

Proteomics data for KXD1 Gene at MOPED

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:
Involved in endosomal cargo sorting.
genes like me logo Genes that share phenotypes with KXD1: view

Animal Models for KXD1 Gene

MGI Knock Outs for KXD1:

Animal Model Products

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

Localization for KXD1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KXD1 Gene COMPARTMENTS Subcellular localization image for KXD1 gene
Compartment Confidence
cytosol 4
cytoskeleton 3
nucleus 3
extracellular 1
golgi apparatus 1
lysosome 1
vacuole 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for KXD1 Gene

Pathways & Interactions for KXD1 Gene

SuperPathways for KXD1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for KXD1 Gene

None

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:

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 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



SOURCE GeneReport for Unigene cluster for KXD1 Gene Hs.714548

genes like me logo Genes that share expression patterns with KXD1: view

Protein tissue co-expression partners for KXD1 Gene

- Elite partner

Primer Products

In Situ Assay 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 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia KXD1 36
  • 94 (a)
OneToOne
KXD1 35
  • 90.72 (n)
  • 93.18 (a)
dog
(Canis familiaris)
Mammalia KXD1 35
  • 90.91 (n)
  • 94.32 (a)
KXD1 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Kxd1 16
Kxd1 35
  • 84.09 (n)
  • 92.61 (a)
Kxd1 36
  • 92 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KXD1 36
  • 69 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 72 (a)
OneToMany
-- 36
  • 74 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Kxd1 35
  • 83.52 (n)
  • 90.34 (a)
chicken
(Gallus gallus)
Aves C19ORF50 35
  • 70.83 (n)
  • 64.06 (a)
KXD1 36
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kxd1 35
  • 68.47 (n)
  • 68.07 (a)
zebrafish
(Danio rerio)
Actinopterygii kxd1 36
  • 61 (a)
OneToOne
Dr.15888 35
kxd1 35
  • 70.37 (n)
  • 66.05 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG10681 36
  • 29 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea C13F10.2 36
  • 24 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 38 (a)
OneToOne
Species with no ortholog for KXD1:
  • 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
rs2058077 -- 18,560,245(+) TCAAG(C/T)AGTCT intron-variant
rs3803916 -- 18,559,177(-) ACCCC(C/T)GTCTC intron-variant
rs3803917 -- 18,559,073(-) GAGGC(A/G)GAGGT intron-variant, utr-variant-5-prime
rs11086116 -- 18,561,446(+) CTACT(A/C/T)GGGAG intron-variant
rs7343176 -- 18,557,638(+) aaatg(C/G)GACAC upstream-variant-2KB

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

HapMap Linkage Disequilibrium report
KXD1
Human Gene Mutation Database (HGMD)
KXD1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) 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. 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 67
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  3. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3
  4. Intersectin (ITSN) family of scaffolds function as molecular hubs in protein interaction networks. (PMID: 22558309) Wong K.A. … O'Bryan J.P. (PLoS ONE 2012) 3
  5. The BLOS1-interacting protein KXD1 is involved in the biogenesis of lysosome-related organelles. (PMID: 22554196) Yang Q. … Li W. (Traffic 2012) 3

Products for KXD1 Gene

Sources for KXD1 Gene

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