The protein encoded by this gene is a positive regulator of the Wnt signaling pathway. The encoded protein is found associated with gamma tubulin at the centrosome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2013] See more...

Aliases for DIXDC1 Gene

Aliases for DIXDC1 Gene

  • DIX Domain Containing 1 2 3 5
  • Dixin 2 3 4
  • Coiled-Coil Protein DIX1 3 4
  • KIAA1735 2 4
  • CCD1 3 4
  • DIX Domain-Containing Protein 1 4
  • Coiled-Coil-DIX1 4
  • DIXDC1 5

External Ids for DIXDC1 Gene

Previous GeneCards Identifiers for DIXDC1 Gene

  • GC11P111385
  • GC11P111353
  • GC11P111807
  • GC11P107731
  • GC11P111797

Summaries for DIXDC1 Gene

Entrez Gene Summary for DIXDC1 Gene

  • The protein encoded by this gene is a positive regulator of the Wnt signaling pathway. The encoded protein is found associated with gamma tubulin at the centrosome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2013]

GeneCards Summary for DIXDC1 Gene

DIXDC1 (DIX Domain Containing 1) is a Protein Coding gene. Diseases associated with DIXDC1 include Obesity Due To Melanocortin 4 Receptor Deficiency and Body Mass Index Quantitative Trait Locus 11. Among its related pathways are Cytoskeletal Signaling and Adhesion. Gene Ontology (GO) annotations related to this gene include actin binding and mitogen-activated protein kinase kinase kinase binding. An important paralog of this gene is DVL2.

UniProtKB/Swiss-Prot Summary for DIXDC1 Gene

  • Positive effector of the Wnt signaling pathway; activates WNT3A signaling via DVL2. Regulates JNK activation by AXIN1 and DVL2.

Gene Wiki entry for DIXDC1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DIXDC1 Gene

Genomics for DIXDC1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for DIXDC1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DIXDC1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DIXDC1

Top Transcription factor binding sites by QIAGEN in the DIXDC1 gene promoter:
  • AREB6
  • ER-alpha
  • Gfi-1
  • HFH-1
  • NF-1
  • RFX1
  • Sp1

Genomic Locations for DIXDC1 Gene

Latest Assembly
chr11:111,927,144-112,022,653
(GRCh38/hg38)
Size:
95,510 bases
Orientation:
Plus strand

Previous Assembly
chr11:111,798,039-111,893,377
(GRCh37/hg19 by Entrez Gene)
Size:
95,339 bases
Orientation:
Plus strand

chr11:111,797,868-111,893,308
(GRCh37/hg19 by Ensembl)
Size:
95,441 bases
Orientation:
Plus strand

Genomic View for DIXDC1 Gene

Genes around DIXDC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DIXDC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DIXDC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DIXDC1 Gene

Proteins for DIXDC1 Gene

  • Protein details for DIXDC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q155Q3-DIXC1_HUMAN
    Recommended name:
    Dixin
    Protein Accession:
    Q155Q3
    Secondary Accessions:
    • A1A5D8
    • E9PRV4
    • Q6P2J8
    • Q6PIK4
    • Q86SR7
    • Q8IVY4
    • Q96N69
    • Q9C0C8

    Protein attributes for DIXDC1 Gene

    Size:
    683 amino acids
    Molecular mass:
    77478 Da
    Quaternary structure:
    • Isoform 1 but not isoform 2 binds filamentous actin. Interacts with the complex composed of DVL2 and Rac. Interacts with AXIN1; competes with MAP3K1. Interacts with MAP3K4 preventing MAP3K4 interaction with AXIN1. Directly interacts (via DIX domain) with DVL2 (via DIX domain). Interacts with gamma-tubulin.
    SequenceCaution:
    • Sequence=AAH35509.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=AAH64479.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=BAB21826.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=BAB71039.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO:0000305};
    Miscellaneous:
    • [Isoform 1]: Major isoform. Ubiquitously expressed.
    • [Isoform 2]: Major isoform. Preferentially expressed in cardiac and skeletal muscles.

    Three dimensional structures from OCA and Proteopedia for DIXDC1 Gene

    Alternative splice isoforms for DIXDC1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DIXDC1 Gene

Post-translational modifications for DIXDC1 Gene

  • Phosphorylated on tyrosine and serine residues.
  • Polyubiquitinated, leading to its proteasomal degradation. WNT3A signaling increases DIXDC1 protein levels by inhibiting its ubiquitination and subsequent degradation.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibodies for research

  • Abcam antibodies for DIXDC1
  • Boster Bio Antibodies for DIXDC1
  • Santa Cruz Biotechnology (SCBT) Antibodies for DIXDC1

No data available for DME Specific Peptides for DIXDC1 Gene

Domains & Families for DIXDC1 Gene

Gene Families for DIXDC1 Gene

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

Protein Domains for DIXDC1 Gene

Suggested Antigen Peptide Sequences for DIXDC1 Gene

GenScript: Design optimal peptide antigens:
  • DIX domain-containing protein 1 (DIXC1_HUMAN)
  • HCG2038196 (Q86SR7_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q155Q3

UniProtKB/Swiss-Prot:

DIXC1_HUMAN :
  • The coiled-coil domain mediates interaction with MAP3K4 and inhibition of AXIN1-mediated JNK activation through MAP3K4.
  • Belongs to the DIXDC1 family.
Domain:
  • The coiled-coil domain mediates interaction with MAP3K4 and inhibition of AXIN1-mediated JNK activation through MAP3K4.
  • The DIX domain mediates interaction with AXIN1 and inhibition of AXIN1-mediated JNK activation through MAP3K1. Mediates interaction with DVL2; this interaction is required for activation of Wnt signaling.
Family:
  • Belongs to the DIXDC1 family.
genes like me logo Genes that share domains with DIXDC1: view

Function for DIXDC1 Gene

Molecular function for DIXDC1 Gene

UniProtKB/Swiss-Prot Function:
Positive effector of the Wnt signaling pathway; activates WNT3A signaling via DVL2. Regulates JNK activation by AXIN1 and DVL2.

Phenotypes From GWAS Catalog for DIXDC1 Gene

Gene Ontology (GO) - Molecular Function for DIXDC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IEA --
GO:0005515 protein binding IPI 20823832
GO:0019904 protein domain specific binding IEA --
GO:0043015 gamma-tubulin binding IDA 19375513
genes like me logo Genes that share ontologies with DIXDC1: view
genes like me logo Genes that share phenotypes with DIXDC1: view

Animal Models for DIXDC1 Gene

MGI Knock Outs for DIXDC1:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DIXDC1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for DIXDC1 Gene

Localization for DIXDC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DIXDC1 Gene

Cell junction, focal adhesion. Cytoplasm, cytoskeleton, stress fiber. Cytoplasm. Note=Colocalizes with gamma-tubulin at the centrosome, both during interphase and mitosis (PubMed:19375513). Associated with actin stress fiber at the filament ends (PubMed:16814745). {ECO:0000269 PubMed:16814745, ECO:0000269 PubMed:19375513}.
[Isoform 2]: Cytoplasm. Note=Not associated with stress fibers. {ECO:0000269 PubMed:16814745}.

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 DIXDC1 gene
Compartment Confidence
cytosol 5
cytoskeleton 4
nucleus 2
plasma membrane 1
extracellular 1
mitochondrion 1
golgi apparatus 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for DIXDC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IBA,IDA 19375513
GO:0005856 cytoskeleton IEA --
GO:0005925 focal adhesion IEA --
GO:0030054 cell junction IEA --
genes like me logo Genes that share ontologies with DIXDC1: view

Pathways & Interactions for DIXDC1 Gene

PathCards logo

SuperPathways for DIXDC1 Gene

genes like me logo Genes that share pathways with DIXDC1: view

Pathways by source for DIXDC1 Gene

3 Cell Signaling Technology pathways for DIXDC1 Gene

Gene Ontology (GO) - Biological Process for DIXDC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007275 multicellular organism development IEA --
GO:0016055 Wnt signaling pathway IEA --
GO:0021795 cerebral cortex cell migration IEA --
GO:0021799 cerebral cortex radially oriented cell migration IEA --
GO:0021846 cell proliferation in forebrain IEA --
genes like me logo Genes that share ontologies with DIXDC1: view

No data available for SIGNOR curated interactions for DIXDC1 Gene

Drugs & Compounds for DIXDC1 Gene

No Compound Related Data Available

Transcripts for DIXDC1 Gene

mRNA/cDNA for DIXDC1 Gene

3 REFSEQ mRNAs :
21 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DIXDC1

Alternative Splicing Database (ASD) splice patterns (SP) for DIXDC1 Gene

No ASD Table

Relevant External Links for DIXDC1 Gene

GeneLoc Exon Structure for
DIXDC1

Expression for DIXDC1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DIXDC1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for DIXDC1 Gene

This gene is overexpressed in Lung (44.1), Placenta (15.2), and Fetal gut (9.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DIXDC1 Gene



Protein tissue co-expression partners for DIXDC1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DIXDC1

SOURCE GeneReport for Unigene cluster for DIXDC1 Gene:

Hs.655626

mRNA Expression by UniProt/SwissProt for DIXDC1 Gene:

Q155Q3-DIXC1_HUMAN
Tissue specificity: Ubiquitously expressed with higher expression in cardiac and skeletal muscles.

Evidence on tissue expression from TISSUES for DIXDC1 Gene

  • Nervous system(4.9)
  • Liver(4.1)
genes like me logo Genes that share expression patterns with DIXDC1: view

Primer products for research

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for DIXDC1 Gene

Orthologs for DIXDC1 Gene

This gene was present in the common ancestor of animals.

Orthologs for DIXDC1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia DIXDC1 29 30
  • 99.51 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia DIXDC1 29 30
  • 93.17 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia DIXDC1 29 30
  • 91.36 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Dixdc1 29
  • 88.75 (n)
Mouse
(Mus musculus)
Mammalia Dixdc1 29 16 30
  • 88.68 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia DIXDC1 30
  • 76 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 71 (a)
OneToMany
-- 30
  • 58 (a)
OneToMany
Chicken
(Gallus gallus)
Aves DIXDC1 29 30
  • 77.32 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia DIXDC1 30
  • 72 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia dixdc1 29
  • 68.88 (n)
Zebrafish
(Danio rerio)
Actinopterygii dixdc1b 29 30
  • 64.23 (n)
OneToMany
dixdc1a 30
  • 58 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta dsh 30
  • 11 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea dsh-1 30
  • 10 (a)
ManyToMany
mig-5 30
  • 10 (a)
ManyToMany
dsh-2 30
  • 9 (a)
ManyToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 45 (a)
OneToMany
CSA.5831 30
  • 32 (a)
OneToMany
Species where no ortholog for DIXDC1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • 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 Vase (Ciona intestinalis)
  • 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 DIXDC1 Gene

ENSEMBL:
Gene Tree for DIXDC1 (if available)
TreeFam:
Gene Tree for DIXDC1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DIXDC1: view image
Alliance of Genome Resources:
Additional Orthologs for DIXDC1

Paralogs for DIXDC1 Gene

Paralogs for DIXDC1 Gene

(1) SIMAP similar genes for DIXDC1 Gene using alignment to 5 proteins:

  • DIXC1_HUMAN
  • E7EQ17_HUMAN
  • E9PRV4_HUMAN
  • J3KQC9_HUMAN
  • Q86SR7_HUMAN
genes like me logo Genes that share paralogs with DIXDC1: view

Variants for DIXDC1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DIXDC1 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
rs114428192 Benign: not provided 112,016,758(+) C/T
NM_001037954.4(DIXDC1):c.1824C>T (p.Asp608=)
SYNONYMOUS
rs1419374563 Likely Pathogenic: Obesity 111,982,362(+) C/T
NM_001037954.4(DIXDC1):c.793C>T (p.Arg265Ter)
NONSENSE
rs182278039 Benign: not provided 111,986,900(+) T/C
NM_001037954.4(DIXDC1):c.1038T>C (p.Ser346=)
SYNONYMOUS
rs199945833 Benign: not provided 111,937,554(+) A/G
NM_001037954.4(DIXDC1):c.55A>G (p.Asn19Asp)
MISSENSE_VARIANT,INTRON
rs34575249 -- p.Lys300Arg

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for DIXDC1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for DIXDC1 Gene

Variant ID Type Subtype PubMed ID
esv2662119 CNV deletion 23128226
esv2745077 CNV deletion 23290073
esv3627746 CNV loss 21293372
esv3627747 CNV loss 21293372
esv3627749 CNV loss 21293372
nsv1127232 CNV deletion 24896259

Variation tolerance for DIXDC1 Gene

Residual Variation Intolerance Score: 56.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.83; 47.89% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DIXDC1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DIXDC1
Leiden Open Variation Database (LOVD)
DIXDC1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DIXDC1 Gene

Disorders for DIXDC1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for DIXDC1 Gene - From: CVR

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for DIXDC1

genes like me logo Genes that share disorders with DIXDC1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DIXDC1 Gene

Publications for DIXDC1 Gene

  1. Wnt signaling stabilizes the DIXDC1 protein through decreased ubiquitin-dependent degradation. (PMID: 20085589) Wang L … Zheng L (Cancer science 2010) 3 4 22
  2. DIXDC1 co-localizes and interacts with gamma-tubulin in HEK293 cells. (PMID: 19375513) Wu Y … Fan M (Cell biology international 2009) 3 4 22
  3. DIXDC1 isoform, l-DIXDC1, is a novel filamentous actin-binding protein. (PMID: 16814745) Wang X … Liu W (Biochemical and biophysical research communications 2006) 3 4 22
  4. KIAA1735 gene on human chromosome 11q23.1 encodes a novel protein with myosine-tail homologous domain and C-terminal DIX domain. (PMID: 12792787) Katoh M … Katoh M (International journal of oncology 2003) 2 3 22
  5. Molecular basis of Wnt activation via the DIX domain protein Ccd1. (PMID: 21189423) Liu YT … Wu JW (The Journal of biological chemistry 2011) 3 4

Products for DIXDC1 Gene

Sources for DIXDC1 Gene