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

Aliases for ABTB1 Gene

Aliases for ABTB1 Gene

  • Ankyrin Repeat And BTB Domain Containing 1 2 3 5
  • Ankyrin Repeat And BTB (POZ) Domain Containing 1 2 3
  • Elongation Factor 1A-Binding Protein 3 4
  • BPOZ 3 4
  • Ankyrin Repeat And BTB/POZ Domain-Containing Protein 1 3
  • BTBD21 3
  • EF1ABP 3
  • PP2259 3
  • BTB3 3

External Ids for ABTB1 Gene

Previous GeneCards Identifiers for ABTB1 Gene

  • GC03P124222
  • GC03P127550
  • GC03P128673
  • GC03P128712
  • GC03P128866
  • GC03P127391
  • GC03P124772

Summaries for ABTB1 Gene

Entrez Gene Summary for ABTB1 Gene

  • This gene encodes a protein with an ankyrin repeat region and two BTB/POZ domains, which are thought to be involved in protein-protein interactions. Expression of this gene is activated by the phosphatase and tensin homolog, a tumor suppressor. Alternate splicing results in three transcript variants. [provided by RefSeq, Mar 2010]

GeneCards Summary for ABTB1 Gene

ABTB1 (Ankyrin Repeat And BTB Domain Containing 1) is a Protein Coding gene. GO annotations related to this gene include translation elongation factor activity.

UniProtKB/Swiss-Prot for ABTB1 Gene

  • May act as a mediator of the PTEN growth-suppressive signaling pathway. May play a role in developmental processes.

Gene Wiki entry for ABTB1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ABTB1 Gene

Genomics for ABTB1 Gene

Regulatory Elements for ABTB1 Gene

Enhancers for ABTB1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03F127766 1.6 FANTOM5 Ensembl ENCODE 11.2 +101.8 101779 16.2 HDGF TBP YBX1 PLRG1 RAD21 YY1 SCRT2 ZNF207 ZNF143 RCOR1 MCM2 TPRA1 MGLL ABTB1 PODXL2
GH03F127789 1.1 Ensembl ENCODE 11.8 +119.1 119078 4.0 KLF17 RAD21 RFX5 ELK1 ZNF366 ELK4 YY2 CEBPB USF2 ZNF843 ABTB1 MGLL
GH03F127588 1.1 ENCODE 9.3 -81.9 -81908 4.7 HDGF PKNOX1 CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 TPRA1 PODXL2 ABTB1 PIR40762 MIR7976
GH03F127784 0.8 Ensembl ENCODE 11.8 +114.1 114061 5.0 ZNF366 REST ZNF600 EBF1 ZIC2 RAD21 YY1 ABTB1 MGLL
GH03F127671 0.9 ENCODE 9.7 -0.1 -55 2.8 ATF1 ARID4B DEAF1 SIN3A GLIS2 EGR1 SCRT2 CREM SMARCC1 SP3 TPRA1 PODXL2 ABTB1 GC03P127673 GC03P127674
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ABTB1 on UCSC Golden Path with GeneCards custom track

Promoters for ABTB1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001373163 65 2401 ELF3 ATF1 ARID4B DEAF1 SIN3A GLIS2 EGR1 SCRT2 CREM SMARCC1

Genomic Location for ABTB1 Gene

Chromosome:
3
Start:
127,672,935 bp from pter
End:
127,680,926 bp from pter
Size:
7,992 bases
Orientation:
Plus strand

Genomic View for ABTB1 Gene

Genes around ABTB1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ABTB1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ABTB1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ABTB1 Gene

Proteins for ABTB1 Gene

  • Protein details for ABTB1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q969K4-ABTB1_HUMAN
    Recommended name:
    Ankyrin repeat and BTB/POZ domain-containing protein 1
    Protein Accession:
    Q969K4
    Secondary Accessions:
    • D3DNB0
    • Q6ZNU9
    • Q71MF1
    • Q96S62
    • Q96S63

    Protein attributes for ABTB1 Gene

    Size:
    478 amino acids
    Molecular mass:
    53979 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAQ04661.1; Type=Frameshift; Positions=202, 212; Evidence={ECO:0000305};

    Alternative splice isoforms for ABTB1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ABTB1 Gene

Post-translational modifications for ABTB1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ABTB1 Gene

Domains & Families for ABTB1 Gene

Suggested Antigen Peptide Sequences for ABTB1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q969K4

UniProtKB/Swiss-Prot:

ABTB1_HUMAN :
  • Contains 2 BTB (POZ) domains.
  • Contains 2 ANK repeats.
Domain:
  • Contains 2 BTB (POZ) domains.
Similarity:
  • Contains 2 ANK repeats.
genes like me logo Genes that share domains with ABTB1: view

Function for ABTB1 Gene

Molecular function for ABTB1 Gene

UniProtKB/Swiss-Prot Function:
May act as a mediator of the PTEN growth-suppressive signaling pathway. May play a role in developmental processes.

Gene Ontology (GO) - Molecular Function for ABTB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003746 translation elongation factor activity IEA --
GO:0005515 protein binding IPI 25416956
GO:0031625 ubiquitin protein ligase binding IBA --
genes like me logo Genes that share ontologies with ABTB1: view
genes like me logo Genes that share phenotypes with ABTB1: view

Animal Model Products

miRNA for ABTB1 Gene

miRTarBase miRNAs that target ABTB1

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ABTB1 Gene

Localization for ABTB1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ABTB1 Gene

Cytoplasm.

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 ABTB1 gene
Compartment Confidence
plasma membrane 5
nucleus 5
cytosol 5

Gene Ontology (GO) - Cellular Components for ABTB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005730 nucleolus IDA --
GO:0005737 cytoplasm IDA --
GO:0005886 plasma membrane IDA --
GO:0019005 SCF ubiquitin ligase complex IBA --
genes like me logo Genes that share ontologies with ABTB1: view

Pathways & Interactions for ABTB1 Gene

SuperPathways for ABTB1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ABTB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006412 translation IEA --
GO:0006414 translational elongation IEA --
GO:0030162 regulation of proteolysis IBA --
GO:0042787 protein ubiquitination involved in ubiquitin-dependent protein catabolic process IBA --
GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process IBA --
genes like me logo Genes that share ontologies with ABTB1: view

No data available for Pathways by source and SIGNOR curated interactions for ABTB1 Gene

Transcripts for ABTB1 Gene

Unigene Clusters for ABTB1 Gene

Ankyrin repeat and BTB (POZ) domain containing 1:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ABTB1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b · 3c · 3d ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b · 6c ^ 7a · 7b · 7c · 7d · 7e ^ 8a · 8b · 8c · 8d ^ 9a · 9b ^
SP1: - - - - - - -
SP2: - - - - - - -
SP3: - - - - - -
SP4: - - - -
SP5: - - - - - - -
SP6: - - - - -
SP7: - - - - -
SP8: - - - - -
SP9: - - -
SP10: - - - - - -
SP11:
SP12:
SP13: - - - -
SP14:
SP15:
SP16: - -
SP17: -
SP18: - -

ExUns: 10a · 10b ^ 11a · 11b · 11c ^ 12 ^ 13a · 13b ^ 14a · 14b · 14c ^ 15
SP1: - -
SP2: - -
SP3:
SP4: - -
SP5:
SP6:
SP7:
SP8:
SP9: - -
SP10: - -
SP11: - - - -
SP12: -
SP13:
SP14: - -
SP15: - - -
SP16:
SP17:
SP18:

Relevant External Links for ABTB1 Gene

GeneLoc Exon Structure for
ABTB1
ECgene alternative splicing isoforms for
ABTB1

Expression for ABTB1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ABTB1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ABTB1 Gene

This gene is overexpressed in Whole Blood (x18.1).

Protein differential expression in normal tissues from HIPED for ABTB1 Gene

This gene is overexpressed in Pancreas (51.9) and Peripheral blood mononuclear cells (16.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ABTB1 Gene



Protein tissue co-expression partners for ABTB1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ABTB1 Gene:

ABTB1

SOURCE GeneReport for Unigene cluster for ABTB1 Gene:

Hs.107812

mRNA Expression by UniProt/SwissProt for ABTB1 Gene:

Q969K4-ABTB1_HUMAN
Tissue specificity: Ubiquitously expressed in all fetal tissues examined including heart, brain, liver, and kidney. Also expressed at lower levels in both adult heart and hypertrophic heart.
genes like me logo Genes that share expression patterns with ABTB1: view

Orthologs for ABTB1 Gene

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

Orthologs for ABTB1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ABTB1 34 35
  • 98.57 (n)
dog
(Canis familiaris)
Mammalia ABTB1 34 35
  • 90.1 (n)
rat
(Rattus norvegicus)
Mammalia Abtb1 34
  • 86.4 (n)
mouse
(Mus musculus)
Mammalia Abtb1 34 16 35
  • 85.91 (n)
cow
(Bos Taurus)
Mammalia ABTB1 34 35
  • 83.9 (n)
oppossum
(Monodelphis domestica)
Mammalia ABTB1 35
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ABTB1 35
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves ABTB1 34 35
  • 71.98 (n)
lizard
(Anolis carolinensis)
Reptilia ABTB1 35
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia abtb1 34
  • 69.88 (n)
zebrafish
(Danio rerio)
Actinopterygii ABTB1 35
  • 69 (a)
OneToOne
LOC100536189 34
  • 68.84 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YIL001W 34
  • 42.79 (n)
-- 35
  • 25 (a)
OneToOne
-- 37
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D13838g 34
  • 39.38 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 46 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU03186 34
  • 43.18 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes btb3 34
  • 42.51 (n)
Species where no ortholog for ABTB1 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)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for ABTB1 Gene

ENSEMBL:
Gene Tree for ABTB1 (if available)
TreeFam:
Gene Tree for ABTB1 (if available)

Paralogs for ABTB1 Gene

(1) SIMAP similar genes for ABTB1 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with ABTB1: view

No data available for Paralogs for ABTB1 Gene

Variants for ABTB1 Gene

Sequence variations from dbSNP and Humsavar for ABTB1 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs10049266 -- 127,672,576(+) CTAcc(C/T)gggcc upstream-variant-2KB, utr-variant-3-prime
rs1053246 -- 127,680,837(-) GCTTA(A/G)AGAAG nc-transcript-variant, utr-variant-3-prime
rs1053253 -- 127,680,765(-) CTGGA(A/G)AAGGA nc-transcript-variant, utr-variant-3-prime
rs1053254 -- 127,680,750(-) GCTAA(A/G)ACCAA nc-transcript-variant, utr-variant-3-prime
rs1056235 -- 127,672,535(+) ACCCC(A/G)AAACG upstream-variant-2KB, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for ABTB1 Gene

Variant ID Type Subtype PubMed ID
nsv955342 CNV deletion 24416366
nsv591585 CNV loss 21841781
nsv460848 CNV loss 19166990
nsv1074621 CNV deletion 25765185
dgv8563n54 CNV loss 21841781

Variation tolerance for ABTB1 Gene

Residual Variation Intolerance Score: 65.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.85; 34.72% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ABTB1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ABTB1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ABTB1 Gene

Disorders for ABTB1 Gene

Relevant External Links for ABTB1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ABTB1

No disorders were found for ABTB1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ABTB1 Gene

Publications for ABTB1 Gene

  1. Molecular cloning and characterization of a novel human gene containing ankyrin repeat and double BTB/POZ domain. (PMID: 10891360) Dai K.-S. … Liew C.-C. (Biochem. Biophys. Res. Commun. 2000) 2 3 4 22 64
  2. Growth-suppressive effects of BPOZ and EGR2, two genes involved in the PTEN signaling pathway. (PMID: 11494141) Unoki M. … Nakamura Y. (Oncogene 2001) 2 3 4 64
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  5. Large-scale cDNA transfection screening for genes related to cancer development and progression. (PMID: 15498874) Wan D. … Gu J. (Proc. Natl. Acad. Sci. U.S.A. 2004) 3 4 64

Products for ABTB1 Gene

Sources for ABTB1 Gene

Content
Loading form....