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] See more...

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 Protein 1 3 4
  • Ankyrin Repeat And BTB (POZ) Domain Containing 1 2 3
  • Elongation Factor 1A-Binding Protein 3 4
  • BPOZ 3 4
  • 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. Gene Ontology (GO) annotations related to this gene include translation elongation factor activity. An important paralog of this gene is ABTB2.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for ABTB1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ABTB1 Gene

Genomics for ABTB1 Gene

GeneHancer (GH) Regulatory Elements for ABTB1 Gene

Promoters and enhancers for ABTB1 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
GH03J127671 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 759.6 -0.3 -334 3.6 ZNF24 POLR2A MYC ELF1 L3MBTL2 MAX MNT RELA NKRF ZFX ABTB1 HSALNG0028761 lnc-ABTB1-1 PODXL2 TPRA1 CHCHD6
GH03J127588 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 20.4 -82.1 -82136 5.2 SIN3A ZNF24 SP1 CTCF POLR2A NR2F1 NR2F6 FOS CREB1 ZNF362 TPRA1 piR-47763 MCM2 PODXL2 ABTB1 CHCHD6 EEFSEC MIR7976
GH03J127766 Promoter/Enhancer 1.8 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 11.2 +100.1 100109 12.1 FOXA1 POLR2A RELA RAD21 SP1 NCOA3 ZNF687 CREM HNF1A IKZF1 MCM2 TPRA1 ABTB1 MGLL PODXL2 lnc-ABTB1-3 lnc-TPRA1-4
GH03J127834 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 11.5 +163.1 163067 3.2 SP1 NR2F6 ETV6 RELA HLF RAD21 NKRF POLR2A ZNF687 CREM ENSG00000287143 HSALNG0028774 ABTB1 MCM2 TPRA1 lnc-KBTBD12-4 MGLL
GH03J127789 Enhancer 1.1 ENCODE CraniofacialAtlas dbSUPER 11.8 +119.1 119077 4 CTCF SREBF1 TCF7L2 HLF RAD21 NFIB SP7 ZSCAN21 CREB1 ELK4 TPRA1 ABTB1 EEFSEC lnc-TPRA1-4 lnc-KBTBD12-5 MGLL
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ABTB1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ABTB1 gene promoter:
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • HOXA5
  • Roaz
  • SREBP-1a

Genomic Locations for ABTB1 Gene

Genomic Locations for ABTB1 Gene
chr3:127,672,935-127,680,926
(GRCh38/hg38)
Size:
7,992 bases
Orientation:
Plus strand
chr3:127,391,778-127,399,769
(GRCh37/hg19)
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

Gene Families for ABTB1 Gene

Suggested Antigen Peptide Sequences for ABTB1 Gene

GenScript: Design optimal peptide antigens:
  • Elongation factor 1A-binding protein (ABTB1_HUMAN)
genes like me logo Genes that share domains with ABTB1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for ABTB1 Gene

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.

Phenotypes From GWAS Catalog for ABTB1 Gene

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
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

CRISPR Products

miRNA for ABTB1 Gene

miRTarBase miRNAs that target ABTB1

Clone 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
nucleus 5
cytosol 5
plasma membrane 4

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoli (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ABTB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000151 ubiquitin ligase complex IBA 21873635
GO:0005730 nucleolus IDA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IDA --
GO:0005886 plasma membrane IDA --
genes like me logo Genes that share ontologies with ABTB1: view

Pathways & Interactions for ABTB1 Gene

PathCards logo

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 --
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

Drugs & Compounds for ABTB1 Gene

No Compound Related Data Available

Transcripts for ABTB1 Gene

mRNA/cDNA for ABTB1 Gene

CRISPR Products

Clone 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 CGAP 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.

Evidence on tissue expression from TISSUES for ABTB1 Gene

  • Nervous system(2.6)
  • Kidney(2.5)
  • Blood(2.2)
genes like me logo Genes that share expression patterns with ABTB1: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for ABTB1 Gene

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 33 32
  • 98.57 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ABTB1 33 32
  • 90.1 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Abtb1 32
  • 86.4 (n)
mouse
(Mus musculus)
Mammalia Abtb1 17 33 32
  • 85.91 (n)
cow
(Bos Taurus)
Mammalia ABTB1 33 32
  • 83.9 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ABTB1 33
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ABTB1 33
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves ABTB1 33 32
  • 71.98 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ABTB1 33
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia abtb1 32
  • 69.88 (n)
zebrafish
(Danio rerio)
Actinopterygii ABTB1 33
  • 69 (a)
OneToOne
LOC100536189 32
  • 68.84 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YIL001W 32
  • 42.79 (n)
-- 33
  • 25 (a)
OneToOne
-- 35
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D13838g 32
  • 39.38 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 46 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU03186 32
  • 43.18 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes btb3 32
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for ABTB1: view image

Paralogs for ABTB1 Gene

Paralogs for ABTB1 Gene

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

  • ABTB1_HUMAN
  • F2Z3F5_HUMAN
  • H7C4W8_HUMAN
  • L8E906_HUMAN
genes like me logo Genes that share paralogs with ABTB1: view

Variants for ABTB1 Gene

Sequence variations from dbSNP and Humsavar for ABTB1 Gene

SNP ID Clin Chr 03 pos Variation AA Info Type
rs1000328890 -- 127,672,812(+) T/A/C upstream_transcript_variant
rs1000365043 -- 127,680,872(+) A/C 3_prime_UTR_variant, non_coding_transcript_variant
rs1000427026 -- 127,672,939(+) G/A 5_prime_UTR_variant, genic_upstream_transcript_variant, non_coding_transcript_variant, upstream_transcript_variant
rs1000872292 -- 127,675,645(+) A/G intron_variant
rs1001179093 -- 127,672,030(+) T/C/G upstream_transcript_variant

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

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

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)

Additional Variant Information for ABTB1 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for ABTB1 Gene

Additional Disease Information for 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 KS … Liew CC (Biochemical and biophysical research communications 2000) 2 3 4 23 56
  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 56
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 56
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 56
  5. Large-scale cDNA transfection screening for genes related to cancer development and progression. (PMID: 15498874) Wan D … Gu J (Proceedings of the National Academy of Sciences of the United States of America 2004) 3 4 56

Products for ABTB1 Gene

Sources for ABTB1 Gene