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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

DMXL1 Gene

protein-coding   GIFtS: 49
GCID: GC05P118435

Dmx-Like 1

  See related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Dmx-Like 11 2
X-Like 1 Protein2 3
DmX-Like Protein 12
XL13

External Ids:    HGNC: 29371   Entrez Gene: 16572   Ensembl: ENSG000001728697   OMIM: 6056715   UniProtKB: Q9Y4853   

Export aliases for DMXL1 gene to outside databases

Previous GC identifers: GC05P118107 GC05P118805 GC05P118437 GC05P118483 GC05P113594


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for DMXL1 Gene:
The protein encoded by this gene is a member of a superfamily of WD repeat proteins. The function of this protein
is not yet determined; however, other related family members perform functions involved in regulatory processes.
(provided by RefSeq, Jul 2008)

GeneCards Summary for DMXL1 Gene: 
DMXL1 (Dmx-like 1) is a protein-coding gene. Diseases associated with DMXL1 include tonsillitis. An important paralog of this gene is DMXL2.




(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NT_034772.6  NC_018916.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the DMXL1 gene promoter:
         AML1a   MAZR   Tal-1   Pax-5   NRSF form 1   Nkx2-2   NRSF form 2   E47   C/EBPalpha   PPAR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDMXL1 promoter sequence
   Search SABiosciences Chromatin IP Primers for DMXL1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DMXL1


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

Entrez Gene cytogenetic band: 5q22   Ensembl cytogenetic band:  5q23.1   HGNC cytogenetic band: 5q22

DMXL1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DMXL1 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05P118435:  view genomic region     (about GC identifiers)

Start:
118,373,467 bp from pter      End:
118,584,833 bp from pter
Size:
211,367 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: DMXL1_HUMAN, Q9Y485 (See protein sequence)
Recommended Name: DmX-like protein 1  
Size: 3027 amino acids; 337839 Da
Developmental stage: Expressed in whole embryo

Explore the universe of human proteins at neXtProt for DMXL1: NX_Q9Y485

Explore proteomics data for DMXL1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9Y485

  • DMXL1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    DMXL1 Protein Expression
    REFSEQ proteins: NP_005500.4  
    ENSEMBL proteins: 
     ENSP00000427692   ENSP00000309690   ENSP00000439479  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    WDR: WD repeat domain containing

    4 InterPro protein domains:
     IPR022033 Rav1p_C
     IPR001680 WD40_repeat
     IPR017986 WD40_repeat_dom
     IPR015943 WD40/YVTN_repeat-like_dom

    Graphical View of Domain Structure for InterPro Entry Q9Y485

    ProtoNet protein and cluster: Q9Y485

    UniProtKB/Swiss-Prot: DMXL1_HUMAN, Q9Y485
    Similarity: Contains 16 WD repeats


    DMXL1 for domains           About GeneDecksing


    (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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
         
    DMXL1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for DMXL1:
     Decreased p24 protein expressi 

    Animal Models:
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    SwitchGear 3'UTR luciferase reporter plasmidDMXL1 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for DMXL1

    3 Interacting proteins for DMXL1 (Q9Y4853) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CALM1P621583I2D: score=1 
    CALM2P621583I2D: score=1 
    CALM3P621583I2D: score=1 
    About this table

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for DMXL1

    Search CenterWatch for drugs/clinical trials and news about DMXL1

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for DMXL1 gene: 
    NM_005509.4  

    Unigene Cluster for DMXL1:

    Dmx-like 1
    Hs.181042  [show with all ESTs]
    Unigene Representative Sequence: AB593142
    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000509902 ENST00000503802 ENST00000311085(uc003ksd.2 uc010jcl.1 uc021ycw.1)
    ENST00000510924 ENST00000515335 ENST00000514151 ENST00000504031 ENST00000512281
    ENST00000504497 ENST00000507552 ENST00000502516 ENST00000511622 ENST00000505312(uc010jcm.1)
    ENST00000514595(uc003kse.1) ENST00000539542(uc003ksc.1)
    miRNA
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    8/49 QIAGEN miScript miRNA Assays for microRNAs that regulate DMXL1 (see all 49):
    hsa-miR-25 hsa-miR-219-5p hsa-miR-374a hsa-miR-508-3p hsa-miR-548l hsa-miR-124 hsa-miR-133a hsa-miR-23a
    SwitchGear 3'UTR luciferase reporter plasmidDMXL1 3' UTR sequence
    Inhib. RNA
    Products:
         
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DMXL1
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    Additional mRNA sequence: 

    AB593142.1 AJ005821.1 AK126726.1 BC028004.1 BC144537.1 BC150616.1 BC171784.1 BX649064.1 

    9 DOTS entries:

    DT.316444  DT.99934417  DT.101975656  DT.92003361  DT.316445  DT.120819326  DT.92425697  DT.95306587 
    DT.99984668 

    24/139 AceView cDNA sequences (see all 139):

    CD368443 AI091978 AA330344 BI906248 AW235114 AA748719 BX473791 BU189806 
    CA389957 AA730047 AA889128 AW008473 AA287662 AA761752 BC028004 AK126726 
    AW613295 NM_005509 AA287862 BX090067 CA309379 AA279184 BP355058 AW192679 

    GeneLoc Exon Structure

    5/13 Alternative Splicing Database (ASD) splice patterns (SP) for DMXL1 (see all 13)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21a · 21b ^ 22a · 22b ^ 23a · 23b ^
    SP1:                                                                                                                                                            
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 24a · 24b ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31a · 31b · 31c ^ 32 ^ 33 ^ 34 ^ 35 ^ 36 ^ 37a · 37b ^ 38 ^ 39 ^ 40 ^ 41
    SP1:                                                                                                  -           -                     
    SP2:                                                                                                                                    
    SP3:                                                                                                  -                                 
    SP4:                                                                                                                                    
    SP5:                                                                                                                                    


    ECgene alternative splicing isoforms for DMXL1

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    DMXL1 expression in normal human tissues (normalized intensities)      DMXL1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    DMXL1 Expression
    About this image


    DMXL1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/5 selected tissues (see all 5) fully expand
     
     Eye (Sensory Organs)    fully expand to see all 3 entries
             Retina
             retina   
     
     Blood (Hematopoietic System)    fully expand to see all 3 entries
             b cells   
     
     Breast (Uncategorized)
             breast epithelium   
     
     Umbilical Cord (Extraembryonic Tissues)
             stem cells (umbilical cord cd34+)   
     
     Epithelium
             breast epithelium   

    See DMXL1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for DMXL1

    SOURCE GeneReport for Unigene cluster: Hs.181042

    UniProtKB/Swiss-Prot: DMXL1_HUMAN, Q9Y485
    Tissue specificity: Expressed in bone, breast, eye, foreskin, heart, parathyroid, small intestine, testis,
    tonsils, placenta and uterus

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DMXL1

    (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)
    About This Section

    This gene was present in the common ancestor of animals and fungi.

    Orthologs for DMXL1 gene from 6/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dmxl11 , 5 Dmx-like 11, 5 89.48(n)1
    90.07(a)1
      18 (27.12 cM)5
    2402831  NM_001081371.21  NP_001074840.21 
     498326705 
    chicken
    (Gallus gallus)
    Aves DMXL11 Dmx-like 1 76.72(n)
    78.41(a)
      427385  XM_424958.3  XP_424958.3 
    lizard
    (Anolis carolinensis)
    Reptilia DMXL16
    Dmx-like 1
    75(a)
    1 ↔ 1
    GL343193.1(10342565-10438071)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.117402 Xenopus laevis transcribed sequence with weak similarity more 77.17(n)    CB197977.2 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1003336251 dmX-like protein 1-like 59.01(n)
    61.49(a)
      100333625  XM_003199032.1  XP_003199080.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes RAV1(YJR033C)4 Subunit of the RAVE complex (Rav1p, Rav2p, Skp1p), more   --   10(496451-492378) 853490  NP_012567.1 


    ENSEMBL Gene Tree for DMXL1 (if available)
    TreeFam Gene Tree for DMXL1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for DMXL1 gene
    DMXL22  
    1 SIMAP similar gene for DMXL1 using alignment to 7 protein entries:     DMXL1_HUMAN (see all proteins):
    DMXL2

    DMXL1 for paralogs           About GeneDecksing



    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/4070 SNPs in DMXL1 are shown (see all 4070)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2001000861,2
    C--118405118(+) TATTG-/CAGA  
            
    AGACA
    1 -- us2k10--------
    rs100425751,2
    C,F--118405146(+) AAAAAA/GTGTAG 1 -- us2k12Minor allele frequency- G:0.08WA NA 238
    rs121884831,2
    C,F,H--118405195(+) ACCCTG/AGTATT 1 -- us2k123Minor allele frequency- A:0.50NS EA WA NA 2748
    rs594841281,2
    C--118405263(+) TTTTTT/-GACTT 1 -- us2k11Minor allele frequency- -:0.00NA 2
    rs360868101,2
    C--118405317(+) CAATGA/GCACGA 1 -- us2k10--------
    rs1818874641,2
    --118405369(+) TCTCTC/TGCCTC 1 -- us2k10--------
    rs1850339721,2
    --118405400(+) TACAGA/GCGCGT 1 -- us2k10--------
    rs1388569071,2
    --118405403(+) AGGCGC/GGTGCC 1 -- us2k10--------
    rs1420537011,2
    --118405453(+) GGTTTC/TACAAT 1 -- us2k10--------
    rs1445323641,2
    C--118405491(+) ACCTCA/CGGTGA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for DMXL1 (118373467 - 118584833 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for DMXL1:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2670990CNV Deletion23128226
    esv2730670CNV Deletion23290073
    nsv275CNV Insertion15895083
    nsv4973CNV Insertion18451855
    nsv509083CNV Insertion20534489
    nsv882774CNV Gain21882294
    dgv1846e1CNV Complex17122850
    nsv511113CNV Complex20534489


    Human Gene Mutation Database (HGMD): DMXL1
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing DMXL1
    DNA2.0 Custom Variant and Variant Library Synthesis for DMXL1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 605671    OMIM disorders: --

    2 diseases for DMXL1:    About MalaCards
    tonsillitis    


    DMXL1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): DMXL1
    Human Genome Epidemiology (HuGE) Navigator: DMXL1 (2 documents)

    Export disorders for DMXL1 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 DMXL1 gene, integrated from 9 sources (see all 15):
    (articles sorted by number of sources associating them with DMXL1)
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    1. Mapping and structure of DMXL1, a human homologue of the DmX gene from Drosophila melanogaster coding for a WD repeat protein. (PubMed id 10708522)1, 2, 3, 9 Kraemer C.... Schmidt E.R. (2000)
    2. Genome-wide association study of the rate of cognitive decline in Alzheimer's disease. (PubMed id 23535033)1 Sherva R....Green R.C. (2013)
    3. Full-length transcriptome analysis of human retina-derived cell lines ARPE-19 and Y79 using the vector-capping method. (PubMed id 21697133)1 Oshikawa M.... Kato S. (2011)
    4. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    5. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (2011)
    6. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    7. Genetic associations of variants in genes encoding HI V-dependency factors required for HIV-1 infection. (PubMed id 21083371)4 Chinn L.W....O'Brien S.J. (2010)
    8. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (2010)
    9. Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach. (PubMed id 19413330)2 Gauci S....Mohammed S. (2009)
    10. Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions. (PubMed id 19690332)2 Mayya V.... Han D.K. (2009)

    (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: 1657 HGNC: 2937 AceView: DMXL1 Ensembl:ENSG00000172869 euGenes: HUgn1657
    ECgene: DMXL1 H-InvDB: DMXL1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for DMXL1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for DMXL1 gene:
    Search GeneIP for patents involving DMXL1

    GeneCards and IP:
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