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Aliases for DMXL1 Gene

Aliases for DMXL1 Gene

  • Dmx Like 1 2 3 5
  • X-Like 1 Protein 4
  • XL1 4

External Ids for DMXL1 Gene

Previous GeneCards Identifiers for DMXL1 Gene

  • GC05P118107
  • GC05P118805
  • GC05P118437
  • GC05P118483
  • GC05P118435
  • GC05P113594

Summaries for DMXL1 Gene

Entrez Gene Summary for DMXL1 Gene

  • The protein encoded by this gene is a member of the WD repeat superfamily of proteins, which have regulatory functions. This gene is expressed in many tissue types including several types of eye tissue, and it has been associated with ocular phenotypes. In addition, it is upregulated in cultured cells that overexpress growth factor independence 1B, a transcription factor that is essential for hematopoietic cell development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]

GeneCards Summary for DMXL1 Gene

DMXL1 (Dmx Like 1) is a Protein Coding gene. Diseases associated with DMXL1 include Amelogenesis Imperfecta, Type Ig and Male Reproductive Organ Benign Neoplasm. An important paralog of this gene is DMXL2.

Additional gene information for DMXL1 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DMXL1 Gene

Genomics for DMXL1 Gene

GeneHancer (GH) Regulatory Elements for DMXL1 Gene

Promoters and enhancers for DMXL1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05I119069 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE 554.9 +35.5 35451 7.3 CLOCK MLX FEZF1 DMAP1 IRF4 YY1 ZNF213 ZNF143 SP3 NFYC DMXL1 LOC105379143 GC05P119128
GH05I119036 Enhancer 0.6 ENCODE 550.8 -1.4 -1431 0.1 SMARCE1 ZNF10 JUN DPF2 FOSL1 JUND PRDM6 ZNF366 POLR2A SMARCA4 DMXL1 ENSG00000250928 LOC105379143
GH05I119037 Enhancer 0.6 ENCODE 550.8 0.0 -41 0.1 RFX1 NFIB DPF2 BMI1 FOXA1 GATA3 CTBP1 CREB1 DMXL1 ENSG00000250928 LOC105379143
GH05I119317 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 39.2 +293.8 293774 27.1 FEZF1 IRF4 ZNF213 E2F8 ZNF143 MEF2D ZNF610 GLIS1 NBN NR2C1 TNFAIP8 DMXL1 LAMTOR3P2 LOC105379143 FAM170A HSD17B4 ENSG00000249426 GC05P119341 GC05M119307 RN7SL174P
GH05I119352 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 10.3 +319.6 319580 10.6 HDGF ATF1 PKNOX1 SMAD1 SIN3A FEZF1 TCF12 ZNF213 ZNF207 RUNX3 TNFAIP8 LOC102723444 LOC105379143 DMXL1 HSD17B4 GC05P119446
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around DMXL1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the DMXL1 gene promoter:

Genomic Locations for DMXL1 Gene

Genomic Locations for DMXL1 Gene
chr5:119,037,772-119,249,138
(GRCh38/hg38)
Size:
211,367 bases
Orientation:
Plus strand
chr5:118,373,467-118,584,833
(GRCh37/hg19)

Genomic View for DMXL1 Gene

Genes around DMXL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DMXL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DMXL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DMXL1 Gene

Proteins for DMXL1 Gene

  • Protein details for DMXL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y485-DMXL1_HUMAN
    Recommended name:
    DmX-like protein 1
    Protein Accession:
    Q9Y485

    Protein attributes for DMXL1 Gene

    Size:
    3027 amino acids
    Molecular mass:
    337839 Da
    Quaternary structure:
    No Data Available

neXtProt entry for DMXL1 Gene

Post-translational modifications for DMXL1 Gene

No Post-translational modifications

No data available for DME Specific Peptides for DMXL1 Gene

Domains & Families for DMXL1 Gene

Gene Families for DMXL1 Gene

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

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with DMXL1: view

No data available for UniProtKB/Swiss-Prot for DMXL1 Gene

Function for DMXL1 Gene

Phenotypes From GWAS Catalog for DMXL1 Gene

genes like me logo Genes that share phenotypes with DMXL1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for DMXL1 Gene

Localization for DMXL1 Gene

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 DMXL1 gene
Compartment Confidence
nucleus 3
cytosol 3
plasma membrane 2
extracellular 2
peroxisome 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoli (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DMXL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0043291 RAVE complex IBA --
genes like me logo Genes that share ontologies with DMXL1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for DMXL1 Gene

Pathways & Interactions for DMXL1 Gene

SuperPathways for DMXL1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for DMXL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007035 vacuolar acidification IBA --
GO:0070072 vacuolar proton-transporting V-type ATPase complex assembly IBA --
genes like me logo Genes that share ontologies with DMXL1: view

No data available for Pathways by source and SIGNOR curated interactions for DMXL1 Gene

Drugs & Compounds for DMXL1 Gene

No Compound Related Data Available

Transcripts for DMXL1 Gene

Unigene Clusters for DMXL1 Gene

Dmx-like 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for DMXL1 Gene

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:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

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:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11: -
SP12:
SP13:

Relevant External Links for DMXL1 Gene

GeneLoc Exon Structure for
DMXL1
ECgene alternative splicing isoforms for
DMXL1

Expression for DMXL1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DMXL1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for DMXL1 Gene

This gene is overexpressed in Cervix (12.8), Adrenal (8.0), Serum (7.9), and Blymphocyte (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for DMXL1 Gene



NURSA nuclear receptor signaling pathways regulating expression of DMXL1 Gene:

DMXL1

SOURCE GeneReport for Unigene cluster for DMXL1 Gene:

Hs.181042

mRNA Expression by UniProt/SwissProt for DMXL1 Gene:

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

Evidence on tissue expression from TISSUES for DMXL1 Gene

  • Liver(4.3)
  • Blood(2.3)
  • Muscle(2.3)
  • Heart(2.2)
  • Kidney(2.1)
  • Nervous system(2.1)
genes like me logo Genes that share expression patterns with DMXL1: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for DMXL1 Gene

Orthologs for DMXL1 Gene

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

Orthologs for DMXL1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DMXL1 33 34
  • 99.61 (n)
dog
(Canis familiaris)
Mammalia DMXL1 33 34
  • 92.49 (n)
cow
(Bos Taurus)
Mammalia LOC534524 33
  • 92.46 (n)
DMXL1 34
  • 92 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dmxl1 33
  • 89.78 (n)
mouse
(Mus musculus)
Mammalia Dmxl1 33 16 34
  • 89.46 (n)
oppossum
(Monodelphis domestica)
Mammalia DMXL1 34
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DMXL1 34
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves DMXL1 33 34
  • 76.71 (n)
lizard
(Anolis carolinensis)
Reptilia DMXL1 34
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dmxl1 33
  • 71.93 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.11740 33
zebrafish
(Danio rerio)
Actinopterygii DMXL1 34
  • 75 (a)
OneToOne
LOC100333625 33
  • 59.12 (n)
fruit fly
(Drosophila melanogaster)
Insecta Rbcn-3A 34
  • 34 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea rbc-1 34
  • 27 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RAV1 34 36
  • 23 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 35 (a)
OneToMany
Species where no ortholog for DMXL1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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)
  • 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 DMXL1 Gene

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

Paralogs for DMXL1 Gene

Paralogs for DMXL1 Gene

(1) SIMAP similar genes for DMXL1 Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with DMXL1: view

Variants for DMXL1 Gene

Sequence variations from dbSNP and Humsavar for DMXL1 Gene

SNP ID Clin Chr 05 pos Variation AA Info Type
rs11301800 benign, not specified 119,165,287(+) AAAAAAAAAAAAAAAAAA/AAAAAAAAAAAAA/AAAAAAAAAAAAAA/AAAAAAAAAAAAAAA/AAAAAAAAAAAAAAAA/AAAAAAAAAAAAAAAAA/AAAAAAAAAAAAAAAAAAA/AAAAAAAAAAAAAAAAAAAAA intron_variant
rs1000006788 -- 119,082,854(+) C/G genic_upstream_transcript_variant, intron_variant
rs1000016499 -- 119,190,375(+) C/T intron_variant
rs1000028711 -- 119,225,666(+) A/G intron_variant
rs1000035757 -- 119,235,164(+) A/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for DMXL1 Gene

Variant ID Type Subtype PubMed ID
dgv5794n100 CNV gain 25217958
esv2670990 CNV deletion 23128226
esv2730670 CNV deletion 23290073
esv2759374 CNV loss 17122850
esv3402952 CNV insertion 20981092
esv3606479 CNV gain 21293372
nsv1016595 CNV gain 25217958
nsv1018539 CNV gain 25217958
nsv275 CNV insertion 15895083
nsv4973 CNV insertion 18451855
nsv509083 CNV insertion 20534489
nsv511113 OTHER complex 20534489
nsv599564 CNV gain 21841781

Variation tolerance for DMXL1 Gene

Residual Variation Intolerance Score: 3.37% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.93; 87.22% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DMXL1 Gene

Human Gene Mutation Database (HGMD)
DMXL1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DMXL1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DMXL1 Gene

Disorders for DMXL1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for DMXL1 Gene - From: HGMD and DISEASES

- elite association - COSMIC cancer census association via MalaCards
Search DMXL1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for DMXL1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with DMXL1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DMXL1 Gene

Publications for DMXL1 Gene

  1. Mapping and structure of DMXL1, a human homologue of the DmX gene from Drosophila melanogaster coding for a WD repeat protein. (PMID: 10708522) Kraemer C … Schmidt ER (Genomics 2000) 2 3 4 22 58
  2. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  3. Destabilization of Atoh1 by E3 Ubiquitin Ligase Huwe1 and Casein Kinase 1 Is Essential for Normal Sensory Hair Cell Development. (PMID: 27542412) Cheng YF … Edge AS (The Journal of biological chemistry 2016) 3 58
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 58
  5. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein MY … Mann M (Cell 2015) 3 58

Products for DMXL1 Gene

Sources for DMXL1 Gene

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