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KXD1 Gene

protein-coding   GIFtS: 41
GCID: GC19P018670

KxDL Motif Containing 1

(Previous name: chromosome 19 open reading frame 50)
(Previous symbol: C19orf50)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
KxDL Motif Containing 11 2     MSTP0962
C19orf501 2 3     KxDL Motif-Containing Protein 12
Chromosome 19 Open Reading Frame 501     UPF0459 Protein C19orf502
KXDL2     C10orf505
MST0962     

External Ids:    HGNC: 284201   Entrez Gene: 790362   Ensembl: ENSG000001057007   OMIM: 6151785   UniProtKB: Q9BQD33   

Export aliases for KXD1 gene to outside databases

Previous GC identifer: GC19P018669


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for KXD1 Gene:
KXD1 (KxDL motif containing 1) is a protein-coding gene.

UniProtKB/Swiss-Prot: KXDL1_HUMAN, Q9BQD3
Function: Involved in endosomal cargo sorting (By similarity)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Search for regulatory transcription factor binding sites for KXD1
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKXD1 promoter sequence
   Search Chromatin IP Primers for KXD1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KXD1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19p13.11   Ensembl cytogenetic band:  19p13.11   HGNC cytogenetic band: 19p13.11

KXD1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KXD1 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P018670:  view genomic region     (about GC identifiers)

Start:
18,668,572 bp from pter      End:
18,680,197 bp from pter
Size:
11,626 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: KXDL1_HUMAN, Q9BQD3 (See protein sequence)
Recommended Name: KxDL motif-containing protein 1  
Size: 176 amino acids; 19668 Da
Subunit: Associates with the BLOC-1 complex. Interacts with BLOC1S1. Interacts with DTNBP1/BLOC1S7 (via
coiled-coil domain) (By similarity)
Sequence caution: Sequence=AAC25583.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: O76098

Explore the universe of human proteins at neXtProt for KXD1: NX_Q9BQD3

Explore proteomics data for KXD1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See KXD1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001165419.1  NP_001165420.1  NP_076974.2  

    ENSEMBL proteins: 
     ENSP00000222307   ENSP00000472268   ENSP00000469648   ENSP00000472535   ENSP00000471554  
     ENSP00000472678   ENSP00000469288   ENSP00000468990   ENSP00000469294   ENSP00000473057  
     ENSP00000472836   ENSP00000468857   ENSP00000468949   ENSP00000471127   ENSP00000443549  
     ENSP00000438903  

    KXD1 Human Recombinant Protein Products:

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    Novus Biologicals KXD1 Proteins
    Novus Biologicals KXD1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for KXD1
    Browse Proteins at Cloud-Clone Corp.

     
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    antibodies-online proteins for KXD1 (5 products) 

     
    antibodies-online peptides for KXD1

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    antibodies-online antibodies for KXD1 (12 products) 

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    Search eBioscience for ELISAs for KXD1 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR019371 Uncharacterised_KxDL

    Graphical View of Domain Structure for InterPro Entry Q9BQD3

    ProtoNet protein and cluster: Q9BQD3

    UniProtKB/Swiss-Prot: KXDL1_HUMAN, Q9BQD3
    Similarity: Belongs to the KXD1 family


    Find genes that share domains with KXD1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: KXDL1_HUMAN, Q9BQD3
    Function: Involved in endosomal cargo sorting (By similarity)

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI16189514
         
    Find genes that share ontologies with KXD1           About GenesLikeMe


    Phenotypes:
         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Kxd1):
     hematopoietic system  pigmentation  vision/eye 

    Find genes that share phenotypes with KXD1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Kxd1tm1Wli for KXD1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for KXD1
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    miRNA
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    miRTarBase miRNAs that target KXD1:
    hsa-mir-378a-5p (MIRT044005), hsa-mir-193b-3p (MIRT041537), hsa-mir-10a-5p (MIRT047547), hsa-let-7b-5p (MIRT052214), hsa-mir-505-5p (MIRT037964)

    Block miRNA regulation of human, mouse, rat KXD1 using miScript Target Protectors
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    Sino Biological Human cDNA Clone for KXD1
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KXD1

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KXD1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0031083colocalizes with BLOC-1 complex ISS--

    Find genes that share ontologies with KXD1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for KXD1
    Interactions:

        Search GeneGlobe Interaction Network for KXD1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for KXD1 (Q9BQD31, 2, 3 ENSP000002223074) via UniProtKB, MINT, STRING, and/or I2D (see all 88)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    KRT81Q145331, 2, 3, ENSP000003693494EBI-739657,EBI-739648 MINT-66033 I2D: score=5 STRING: ENSP00000369349
    CEP19Q96LK02, 3, ENSP000003872094MINT-66218 I2D: score=4 STRING: ENSP00000387209
    FXR2P511162, 3, ENSP000002501134MINT-67476 I2D: score=4 STRING: ENSP00000250113
    LNX1Q8TBB12, 3, ENSP000002639254MINT-67890 I2D: score=4 STRING: ENSP00000263925
    UTP6Q9NYH92, 3, ENSP000002617084MINT-67466 I2D: score=4 STRING: ENSP00000261708
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016192vesicle-mediated transport ISS--

    Find genes that share ontologies with KXD1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for KXD1 (KXDL1)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for KXD1 gene (3 alternative transcripts): 
    NM_001171948.1  NM_001171949.1  NM_024069.3  

    17 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000222307(uc002njo.3 uc002njq.3) ENST00000600372 ENST00000600796
    ENST00000601630 ENST00000599000 ENST00000595073 ENST00000600654 ENST00000596785
    ENST00000599319 ENST00000597438 ENST00000596244 ENST00000602094 ENST00000598830
    ENST00000595870 ENST00000600099 ENST00000540691(uc021uqq.1) ENST00000539106(uc021uqr.1)

    miRNA
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    Primer
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    OriGene qPCR primer pairs and template standards for KXD1
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      QuantiTect SYBR Green Assays in human, mouse, rat KXD1
      QuantiFast Probe-based Assays in human, mouse, rat KXD1

    Selected AceView cDNA sequences (see all 433):

    BM915646 BQ549224 AI093239 BU186070 BX509496 BF446637 CB055204 CA431389 
    BU527036 AI971947 AW235074 AI523607 AA070960 BP366510 BM450496 BE501423 
    AI753607 BE795439 BE551095 BM808293 BG231753 AI913264 BU857831 NM_024069 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for KXD1 (see all 10)    About this scheme

    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:                                -     -                       -           -     -                                             


    ECgene alternative splicing isoforms for KXD1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    KXD1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAGCAAACGG
    KXD1 Expression
    About this image

    KXD1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    KXD1 Protein Expression
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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for KXD1 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Kxd11 , 5 RIKEN cDNA 2810422J05 gene5
    KxDL motif containing 11
    84.09(n)1
    92.61(a)1
      8 (34.15 cM)5
    756201  NM_029366.21  NP_083642.11 
     705082725 
    chicken
    (Gallus gallus)
    Aves C19ORF501 chromosome 28 open reading frame, human C19orf50 70.83(n)
    64.06(a)
      771070  XM_001233287.3  XP_001233288.3 
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia kxd11 KxDL motif containing 1 68.47(n)
    68.07(a)
      779482  XM_002940204.2  XP_002940250.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.158882 Transcribed sequence with weak similarity to protein more 75.96(n)    CF998204.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG106816
    --
    29(a)
    1 ↔ 1
    3L(12494613-12495747)
    worm
    (Caenorhabditis elegans)
    Secernentea C13F10.26
    Protein C13F10.2 (C13F10.2) mRNA, complete cds
    24(a)
    1 ↔ 1
    V(7221479-7222057) WBGene00015742


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for KXD1 gene
    1 SIMAP similar gene for KXD1 using alignment to 8 protein entries:     KXDL1_HUMAN (see all proteins):
    MST096

    Find genes that share paralogs with KXD1           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for KXD1
    PGOHUM00000234540


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for KXD1 (see all 357)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs105883991,2
    C--18232451(+) ttttt-/T/TTTT
            
    cagtt
    3 -- int11NA 2
    rs1140094691,2
    C,F--18666599(+) TAAAAG/AGACAC 3 -- us2k11Minor allele frequency- A:0.04WA 118
    rs1412004511,2
    --18666611(+) GGAGCG/TTATTT 3 -- us2k10--------
    rs1502322951,2
    --18666631(+) TTATTC/TATTTA 3 -- us2k10--------
    rs81126931,2
    C--18666707(+) gcttcA/Gcctcc 3 -- us2k10--------
    rs1819701811,2
    --18666780(+) CACGCC/TTGGCT 3 -- us2k10--------
    rs1493669561,2
    --18667013(+) GTTGTC/TGTTGT 3 -- us2k10--------
    rs81103711,2
    C,F,A,H--18667272(+) tccacC/Acgcct 3 -- us2k16Minor allele frequency- A:0.48NA CSA EA 250
    rs81103741,2
    C,F,A,H--18667281(+) ctggcC/Atccca 3 -- us2k17Minor allele frequency- A:0.49NA CSA EA 252
    rs1440442641,2
    --18667294(+) GTGCTA/GGGGTT 3 -- us2k10--------

    HapMap Linkage Disequilibrium report for KXD1 (18668572 - 18680197 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for KXD1: --
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing KXD1
    DNA2.0 Custom Variant and Variant Library Synthesis for KXD1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 615178    OMIM disorders: --


    Find genes that share disorders with KXD1           About GenesLikeMe


    Export disorders for KXD1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for KXD1 gene, integrated from 10 sources (see all 15):
    (articles sorted by number of sources associating them with KXD1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Yeast homologues of three BLOC-1 subunits highlight KxDL proteins as conserved interactors of BLOC-1. (PubMed id 21159114)1, 3 Hayes M.J....Levine T.P. (Traffic 2011)
    2. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    3. Intersectin (ITSN) family of scaffolds function as molecular hubs in protein interaction networks. (PubMed id 22558309)1 Wong K.A....O'Bryan J.P. (PLoS ONE 2012)
    4. The BLOS1-interacting protein KXD1 is involved in the biogenesis of lysosome-related organelles. (PubMed id 22554196)1 Yang Q....Li W. (Traffic 2012)
    5. N-terminal acetylome analyses and functional insights of the N- terminal acetyltransferase NatB. (PubMed id 22814378)2 Van Damme P....Aldabe R. (Proc. Natl. Acad. Sci. U.S.A. 2012)
    6. Toward an understanding of the protein interaction network of the human liver. (PubMed id 21988832)1 Wang J....Yang X. (Mol. Syst. Biol. 2011)
    7. Global analysis of host-pathogen interactions that regulate early-stage HIV-1 replication. (PubMed id 18854154)1 KAPnig R....Chanda S.K. (Cell 2008)
    8. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (Genomics 2007)
    9. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (Genome Res. 2006)
    10. Towards a proteome-scale map of the human protein-protein interaction network. (PubMed id 16189514)1 Rual J.F....Vidal M. (Nature 2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 79036 HGNC: 28420 AceView: MGC2749 Ensembl:ENSG00000105700 euGenes: HUgn79036
    ECgene: KXD1 H-InvDB: KXD1

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for KXD1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
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    IP news from LifeMap Sciences, Inc.)
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    Patent Information for KXD1 gene:
    Search GeneIP for patents involving KXD1

    GeneCards and IP:
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    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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