Free for academic non-profit institutions. Other users need a Commercial license

Aliases for TAX1BP3 Gene

Aliases for TAX1BP3 Gene

  • Tax1 Binding Protein 3 2 3 5
  • Tax Interaction Protein 1 2 3 4
  • Tax1 (Human T-Cell Leukemia Virus Type I) Binding Protein 3 2 3
  • Glutaminase-Interacting Protein 3 3 4
  • Tax-Interacting Protein 1 3 4
  • TIP-1 3 4
  • TIP1 3 4
  • Tax1-Binding Protein 3 3

External Ids for TAX1BP3 Gene

Previous GeneCards Identifiers for TAX1BP3 Gene

  • GC17M003773
  • GC17M003512
  • GC17M003457
  • GC17M003566

Summaries for TAX1BP3 Gene

Entrez Gene Summary for TAX1BP3 Gene

  • This gene encodes a small, highly conserved protein with a single PDZ domain. PDZ (PSD-95/Discs large/ZO-1 homologous) domains promote protein-protein interactions that affect cell signaling, adhesion, protein scaffolding, and receptor and ion transporter functions. The encoded protein interacts with a large number of target proteins that play roles in signaling pathways; for example, it interacts with Rho A and glutaminase L and also acts as a negative regulator of the Wnt/beta-catenin signaling pathway. This protein was first identified as binding to the T-cell leukaemia virus (HTLV1) Tax oncoprotein. Overexpression of this gene has been implicated in altered cancer cell adhesion, migration and metastasis. The encoded protein also modulates the localization and density of inwardly rectifying potassium channel 2.3 (Kir2.3). To date, this protein has been shown to play a role in cell proliferation, development, stress response, and polarization. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Apr 2017]

GeneCards Summary for TAX1BP3 Gene

TAX1BP3 (Tax1 Binding Protein 3) is a Protein Coding gene. Diseases associated with TAX1BP3 include Cholesterol Embolism and Intracranial Embolism. Among its related pathways are RHO GTPases Activate Rhotekin and Rhophilins and Signaling by Rho GTPases. Gene Ontology (GO) annotations related to this gene include protein C-terminus binding and beta-catenin binding.

UniProtKB/Swiss-Prot for TAX1BP3 Gene

  • May regulate a number of protein-protein interactions by competing for PDZ domain binding sites. Binds CTNNB1 and may thereby act as an inhibitor of the Wnt signaling pathway. Competes with LIN7A for KCNJ4 binding, and thereby promotes KCNJ4 internalization. May play a role in the Rho signaling pathway. May play a role in activation of CDC42 by the viral protein HPV16 E6.

Gene Wiki entry for TAX1BP3 Gene

Additional gene information for TAX1BP3 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TAX1BP3 Gene

Genomics for TAX1BP3 Gene

GeneHancer (GH) Regulatory Elements for TAX1BP3 Gene

Promoters and enhancers for TAX1BP3 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
GH17I003665 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 571.9 +0.8 755 4.2 HDGF PKNOX1 SMAD1 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 POLR2B TAX1BP3 EMC6 CTNS P2RX5 HASPIN RPL21P125 P2RX5-TAX1BP3
GH17I003634 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 16.4 +32.6 32590 3 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 POLR2B ZNF207 CTNS SHPK ENSG00000262304 MYBBP1A TAX1BP3 LOC105371492 ANKFY1 EMC6 LOC100422717
GH17I003791 Enhancer 1.2 FANTOM5 Ensembl ENCODE 11.2 -123.1 -123118 0.8 JUN BACH1 BATF FOSL1 ZNF316 FOSL2 NFE2 FOS IKZF2 RUNX3 HASPIN NCBP3 EMC6 TAX1BP3 CTNS ZZEF1 P2RX1 ITGAE ENSG00000262358
GH17I003664 Enhancer 0.4 dbSUPER 20.3 +4.0 4010 1.2 ZFHX2 EGR2 RPL21P125 GC17P003669 GC17P003667 GC17P003666 TAX1BP3 CTNS P2RX5 HASPIN LOC105371492 P2RX5-TAX1BP3
GH17I004475 Enhancer 1.2 Ensembl ENCODE dbSUPER 6.6 -811.1 -811058 9.1 ELF3 MLX ZFP64 ARID4B BATF THRB ZNF48 GLIS2 SCRT2 ETV6 GGT6 TAX1BP3 SPNS3 PFN1 ENSG00000262823 PIR52974
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TAX1BP3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TAX1BP3 gene promoter:

Genomic Locations for TAX1BP3 Gene

Genomic Locations for TAX1BP3 Gene
chr17:3,662,893-3,668,682
(GRCh38/hg38)
Size:
5,790 bases
Orientation:
Minus strand
chr17:3,566,187-3,571,976
(GRCh37/hg19)

Genomic View for TAX1BP3 Gene

Genes around TAX1BP3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TAX1BP3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TAX1BP3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TAX1BP3 Gene

Proteins for TAX1BP3 Gene

  • Protein details for TAX1BP3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O14907-TX1B3_HUMAN
    Recommended name:
    Tax1-binding protein 3
    Protein Accession:
    O14907
    Secondary Accessions:
    • B2RD53
    • D3DTJ6
    • Q7LCQ4

    Protein attributes for TAX1BP3 Gene

    Size:
    124 amino acids
    Molecular mass:
    13735 Da
    Quaternary structure:
    • Interacts (via its PDZ domain) with GLS2. Interacts (via its PDZ domain) with RTKN (via the C-terminal region); this interaction facilitates Rho-mediated activation of the FOS serum response element (SRE). Interacts (via its PDZ domain) with CTNNB1; this interaction inhibits the transcriptional activity of CTNNB1. Interacts with HTLV-1 TAX protein. Interacts (via PDZ domain) with ARHGEF16. Interacts (via PDZ domain) with KCNJ4 (via C-terminus). Competes with LIN7A for KCNJ4 binding. Interacts with ADGRB2 (PubMed:21787750).
    SequenceCaution:
    • Sequence=AAF43104.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for TAX1BP3 Gene

neXtProt entry for TAX1BP3 Gene

Post-translational modifications for TAX1BP3 Gene

Other Protein References for TAX1BP3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TAX1BP3 Gene

Domains & Families for TAX1BP3 Gene

Gene Families for TAX1BP3 Gene

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

Protein Domains for TAX1BP3 Gene

Suggested Antigen Peptide Sequences for TAX1BP3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with TAX1BP3: view

No data available for UniProtKB/Swiss-Prot for TAX1BP3 Gene

Function for TAX1BP3 Gene

Molecular function for TAX1BP3 Gene

UniProtKB/Swiss-Prot Function:
May regulate a number of protein-protein interactions by competing for PDZ domain binding sites. Binds CTNNB1 and may thereby act as an inhibitor of the Wnt signaling pathway. Competes with LIN7A for KCNJ4 binding, and thereby promotes KCNJ4 internalization. May play a role in the Rho signaling pathway. May play a role in activation of CDC42 by the viral protein HPV16 E6.

Phenotypes From GWAS Catalog for TAX1BP3 Gene

Gene Ontology (GO) - Molecular Function for TAX1BP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 10940294
GO:0008013 beta-catenin binding IEA --
GO:0008022 protein C-terminus binding IPI 16855024
genes like me logo Genes that share ontologies with TAX1BP3: view
genes like me logo Genes that share phenotypes with TAX1BP3: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TAX1BP3 Gene

Localization for TAX1BP3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TAX1BP3 Gene

Cytoplasm. Nucleus. Cell membrane; Peripheral membrane protein; Cytoplasmic side. Note=Recruited to the cell membrane by interaction with membrane proteins.

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 TAX1BP3 gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytoskeleton 5
nucleus 5
cytosol 5
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Actin filaments (2)
  • Nucleoli fibrillar center (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TAX1BP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001650 fibrillar center IDA --
GO:0005622 intracellular IEA --
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm NAS 10940294
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with TAX1BP3: view

Pathways & Interactions for TAX1BP3 Gene

genes like me logo Genes that share pathways with TAX1BP3: view

Pathways by source for TAX1BP3 Gene

Gene Ontology (GO) - Biological Process for TAX1BP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007266 Rho protein signal transduction IDA,IEA 10940294
GO:0008285 negative regulation of cell proliferation IEA --
GO:0016055 Wnt signaling pathway IEA --
GO:0030111 regulation of Wnt signaling pathway IEA --
GO:0030178 negative regulation of Wnt signaling pathway IEA,ISS --
genes like me logo Genes that share ontologies with TAX1BP3: view

No data available for SIGNOR curated interactions for TAX1BP3 Gene

Drugs & Compounds for TAX1BP3 Gene

No Compound Related Data Available

Transcripts for TAX1BP3 Gene

mRNA/cDNA for TAX1BP3 Gene

Unigene Clusters for TAX1BP3 Gene

Tax1 (human T-cell leukemia virus type I) binding protein 3:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for TAX1BP3 Gene

No ASD Table

Relevant External Links for TAX1BP3 Gene

GeneLoc Exon Structure for
TAX1BP3
ECgene alternative splicing isoforms for
TAX1BP3

Expression for TAX1BP3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TAX1BP3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TAX1BP3 Gene

This gene is overexpressed in Nasal epithelium (15.9) and Bone marrow stromal cell (13.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TAX1BP3 Gene



Protein tissue co-expression partners for TAX1BP3 Gene

NURSA nuclear receptor signaling pathways regulating expression of TAX1BP3 Gene:

TAX1BP3

SOURCE GeneReport for Unigene cluster for TAX1BP3 Gene:

Hs.12956

mRNA Expression by UniProt/SwissProt for TAX1BP3 Gene:

O14907-TX1B3_HUMAN
Tissue specificity: Ubiquitous. Detected in brain, heart, kidney, lung, small intestine and skeletal muscle. Detected in various cell lines including HeLa. Weakly expressed in peripheral blood leukocytes.

Evidence on tissue expression from TISSUES for TAX1BP3 Gene

  • Nervous system(3.1)
  • Liver(2.7)
genes like me logo Genes that share expression patterns with TAX1BP3: view

Primer Products

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for TAX1BP3 Gene

Orthologs for TAX1BP3 Gene

This gene was present in the common ancestor of animals.

Orthologs for TAX1BP3 Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia TAX1BP3 33 34
  • 94.35 (n)
cow
(Bos Taurus)
Mammalia TAX1BP3 33 34
  • 94.09 (n)
mouse
(Mus musculus)
Mammalia Tax1bp3 33 16 34
  • 90.05 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TAX1BP3 34
  • 89 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia TAX1BP3 34
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves TAX1BP3 33 34
  • 82.53 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia tax1bp3 33
  • 77.87 (n)
MGC76248 33
zebrafish
(Danio rerio)
Actinopterygii tax1bp3 33 34
  • 75.07 (n)
Dr.4788 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8275 33
fruit fly
(Drosophila melanogaster)
Insecta CG3402 34
  • 40 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea C45G9.7 34
  • 40 (a)
OneToOne
Species where no ortholog for TAX1BP3 was found in the sources mined by GeneCards:
  • 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)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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 TAX1BP3 Gene

ENSEMBL:
Gene Tree for TAX1BP3 (if available)
TreeFam:
Gene Tree for TAX1BP3 (if available)

Paralogs for TAX1BP3 Gene

(10) SIMAP similar genes for TAX1BP3 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with TAX1BP3: view

No data available for Paralogs for TAX1BP3 Gene

Variants for TAX1BP3 Gene

Sequence variations from dbSNP and Humsavar for TAX1BP3 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1128098 likely-benign, Cystinosis, Nephropathic cystinosis 3,662,919(-) G/A 3_prime_UTR_variant
rs1128109 likely-benign, Cystinosis, Nephropathic cystinosis 3,662,915(-) G/C 3_prime_UTR_variant
rs161397 benign, Nephropathic cystinosis, Cystinosis 3,662,675(-) T/C downstream_transcript_variant
rs184828971 uncertain-significance, Cystinosis, Nephropathic cystinosis 3,662,405(-) G/A downstream_transcript_variant
rs397702352 benign, Cystinosis, Nephropathic cystinosis 3,662,752(-) C/CC downstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for TAX1BP3 Gene

Variant ID Type Subtype PubMed ID
nsv960399 CNV duplication 23825009
nsv952107 CNV deletion 24416366
nsv833342 CNV loss 17160897
nsv574237 CNV loss 21841781
nsv1947 CNV insertion 18451855
nsv1065489 CNV gain 25217958
nsv1055740 CNV gain 25217958
dgv5423n54 CNV loss 21841781
dgv358n27 CNV loss 19166990
dgv3085n100 CNV loss 25217958

Variation tolerance for TAX1BP3 Gene

Residual Variation Intolerance Score: 44.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.02; 20.94% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TAX1BP3 Gene

Human Gene Mutation Database (HGMD)
TAX1BP3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TAX1BP3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TAX1BP3 Gene

Disorders for TAX1BP3 Gene

MalaCards: The human disease database

(3) MalaCards diseases for TAX1BP3 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
cholesterol embolism
  • atheroembolism
intracranial embolism
  • cerebral embolism
cystinosis
  • cystine storage disease
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for TAX1BP3

genes like me logo Genes that share disorders with TAX1BP3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TAX1BP3 Gene

Publications for TAX1BP3 Gene

  1. The genomic region encompassing the nephropathic cystinosis gene (CTNS): complete sequencing of a 200-kb segment and discovery of a novel gene within the common cystinosis-causing deletion. (PMID: 10673275) Touchman JW … Green ED (Genome research 2000) 2 3 4 58
  2. Mutations in TAX1BP3 cause dilated cardiomyopathy with septo-optic dysplasia. (PMID: 25645515) Reinstein E … Behar DM (Human mutation 2015) 3 4 58
  3. Identification of brain-specific angiogenesis inhibitor 2 as an interaction partner of glutaminase interacting protein. (PMID: 21787750) Zencir S … Mohanty S (Biochemical and biophysical research communications 2011) 3 4 58
  4. The HPV16 E6 binding protein Tip-1 interacts with ARHGEF16, which activates Cdc42. (PMID: 21139582) Oliver AW … Hampson IN (British journal of cancer 2011) 3 4 58
  5. Molecular mechanism of inward rectifier potassium channel 2.3 regulation by tax-interacting protein-1. (PMID: 19635485) Yan X … Long J (Journal of molecular biology 2009) 3 4 58

Products for TAX1BP3 Gene

Sources for TAX1BP3 Gene

Content
Loading form....