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Aliases for ABT1 Gene

Aliases for ABT1 Gene

  • Activator Of Basal Transcription 1 2 3 5
  • Basal Transcriptional Activator 3 4
  • HABT1 3 4
  • TATA-Binding Protein-Binding Protein 3
  • Esf2 3

External Ids for ABT1 Gene

Previous GeneCards Identifiers for ABT1 Gene

  • GC06P026654
  • GC06P026705
  • GC06P026597
  • GC06P026540
  • GC06P026604
  • GC06P026651
  • GC06P026693
  • GC06P026737
  • GC06P026775
  • GC06P026837

Summaries for ABT1 Gene

Entrez Gene Summary for ABT1 Gene

  • Basal transcription of genes by RNA polymerase II requires the interaction of TATA-binding protein (TBP) with the core region of class II promoters. Studies in mouse suggest that the protein encoded by this gene likely activates basal transcription from class II promoters by interaction with TBP and the class II promoter DNA. [provided by RefSeq, Jul 2008]

GeneCards Summary for ABT1 Gene

ABT1 (Activator Of Basal Transcription 1) is a Protein Coding gene. Diseases associated with ABT1 include Neuronal Intranuclear Inclusion Disease. GO annotations related to this gene include poly(A) RNA binding and transcription coactivator activity.

UniProtKB/Swiss-Prot for ABT1 Gene

  • Could be a novel TATA-binding protein (TBP) which can function as a basal transcription activator. Can act as a regulator of basal transcription for class II genes (By similarity).

Additional gene information for ABT1 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ABT1 Gene

Genomics for ABT1 Gene

Regulatory Elements for ABT1 Gene

Enhancers for ABT1 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
GH06H027126 1.7 Ensembl ENCODE dbSUPER 97 +541.1 541080 23 FEZF1 DMAP1 YY1 ZNF143 SP3 NFYC ZFP41 MEF2D SSRP1 ZNF610 ZKSCAN8 ABT1 HMGN4 ZNF322 BTN2A3P BTN2A1 LOC102724851 BTN2A2 ZNF391 ENSG00000261839
GH06H026120 2.1 FANTOM5 Ensembl ENCODE dbSUPER 66 -473.0 -472969 7.8 ZFP64 DMAP1 YY1 SLC30A9 SP3 NFYC ZC3H11A SSRP1 ZNF610 RCOR2 ABT1 BTN2A3P HMGN4 BTN2A1 BTN2A2 ENSG00000272462 NUP50P2 HCG11 HFE HIST1H1D
GH06H026019 1.9 FANTOM5 ENCODE dbSUPER 65.9 -569.4 -569357 16.2 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC MEF2D ABT1 BTN2A1 BTN2A3P HMGN4 ENSG00000272462 BTN2A2 BTN3A2 ZNF322 HIST1H2APS5 NUP50P2
GH06H026341 1.7 Ensembl ENCODE dbSUPER 67 -254.8 -254753 1.6 HDGF PKNOX1 MLX ARNT ARID4B SIN3A YBX1 ZNF2 ZBTB7B ZNF766 ABT1 BTN2A3P ZNF322 BTN2A2 HMGN4 BTN3A2 BTN2A1 GUSBP2 TRIM38 HIST1H2APS4
GH06H026052 1.7 Ensembl ENCODE dbSUPER 65.9 -541.6 -541641 5.7 MLX ZFP64 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC ZC3H11A SSRP1 ABT1 ENSG00000272462 BTN2A1 HMGN4 BTN2A3P BTN2A2 HIST1H2APS5 NUP50P2 HIST1H2APS4 HIST1H2BPS1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ABT1 on UCSC Golden Path with GeneCards custom track

Promoters for ABT1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000195060 -942 3600 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC MEF2D

Genomic Locations for ABT1 Gene

Genomic Locations for ABT1 Gene
chr6:26,596,943-26,600,744
(GRCh38/hg38)
Size:
3,802 bases
Orientation:
Plus strand
chr6:26,597,171-26,600,278
(GRCh37/hg19)

Genomic View for ABT1 Gene

Genes around ABT1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ABT1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ABT1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ABT1 Gene

Proteins for ABT1 Gene

  • Protein details for ABT1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9ULW3-ABT1_HUMAN
    Recommended name:
    Activator of basal transcription 1
    Protein Accession:
    Q9ULW3

    Protein attributes for ABT1 Gene

    Size:
    272 amino acids
    Molecular mass:
    31079 Da
    Quaternary structure:
    • Interacts with ESF1/ABTAP (By similarity). Interacts with IGHMBP2.

neXtProt entry for ABT1 Gene

Post-translational modifications for ABT1 Gene

  • Ubiquitination at posLast=146146
  • Modification sites at PhosphoSitePlus

Other Protein References for ABT1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ABT1 Gene

Domains & Families for ABT1 Gene

Gene Families for ABT1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for ABT1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ABT1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9ULW3

UniProtKB/Swiss-Prot:

ABT1_HUMAN :
  • Belongs to the ESF2/ABP1 family.
Family:
  • Belongs to the ESF2/ABP1 family.
genes like me logo Genes that share domains with ABT1: view

Function for ABT1 Gene

Molecular function for ABT1 Gene

UniProtKB/Swiss-Prot Function:
Could be a novel TATA-binding protein (TBP) which can function as a basal transcription activator. Can act as a regulator of basal transcription for class II genes (By similarity).

Phenotypes From GWAS Catalog for ABT1 Gene

Gene Ontology (GO) - Molecular Function for ABT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding IEA --
GO:0003713 transcription coactivator activity TAS 10648625
GO:0003723 RNA binding IDA,IBA 22658674
GO:0005515 protein binding IPI 19299493
genes like me logo Genes that share ontologies with ABT1: view
genes like me logo Genes that share phenotypes with ABT1: view

miRNA for ABT1 Gene

miRTarBase miRNAs that target ABT1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ABT1 Gene

Localization for ABT1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ABT1 Gene

Nucleus. Nucleus, nucleolus.

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 ABT1 gene
Compartment Confidence
nucleus 5
cytosol 2

Gene Ontology (GO) - Cellular Components for ABT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus TAS 10648625
GO:0005667 transcription factor complex IEA --
GO:0005730 nucleolus IBA --
genes like me logo Genes that share ontologies with ABT1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ABT1 Gene

Pathways & Interactions for ABT1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ABT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000447 endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) IBA --
GO:0000472 endonucleolytic cleavage to generate mature 5-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) IBA --
GO:0000480 endonucleolytic cleavage in 5-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) IBA --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
genes like me logo Genes that share ontologies with ABT1: view

No data available for Pathways by source and SIGNOR curated interactions for ABT1 Gene

Drugs & Compounds for ABT1 Gene

(6) Drugs for ABT1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) Additional Compounds for ABT1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with ABT1: view

Transcripts for ABT1 Gene

mRNA/cDNA for ABT1 Gene

(1) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(261) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ABT1 Gene

Activator of basal transcription 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ABT1 Gene

No ASD Table

Relevant External Links for ABT1 Gene

GeneLoc Exon Structure for
ABT1
ECgene alternative splicing isoforms for
ABT1

Expression for ABT1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ABT1 Gene

Protein differential expression in normal tissues from HIPED for ABT1 Gene

This gene is overexpressed in Plasma (22.3), Peripheral blood mononuclear cells (20.0), and Lung (7.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ABT1 Gene



Protein tissue co-expression partners for ABT1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ABT1 Gene:

ABT1

SOURCE GeneReport for Unigene cluster for ABT1 Gene:

Hs.254406

Evidence on tissue expression from TISSUES for ABT1 Gene

  • Intestine(4.2)
genes like me logo Genes that share expression patterns with ABT1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ABT1 Gene

Orthologs for ABT1 Gene

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

Orthologs for ABT1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ABT1 33 34
  • 99.63 (n)
dog
(Canis familiaris)
Mammalia ABT1 33 34
  • 84.8 (n)
cow
(Bos Taurus)
Mammalia ABT1 33 34
  • 83.21 (n)
rat
(Rattus norvegicus)
Mammalia Abt1 33
  • 82.56 (n)
mouse
(Mus musculus)
Mammalia Abt1 33 16 34
  • 78.83 (n)
oppossum
(Monodelphis domestica)
Mammalia ABT1 34
  • 58 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ABT1 34
  • 56 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ABT1 34
  • 50 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia MGC52939 33
zebrafish
(Danio rerio)
Actinopterygii abt1 33 34
  • 56.46 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG32708 34
  • 31 (a)
OneToMany
CG41562 34
  • 29 (a)
OneToMany
CG40813 34
  • 28 (a)
OneToMany
CG10993 34
  • 27 (a)
OneToMany
CG32706 34
  • 24 (a)
OneToMany
CG6999 34
  • 24 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea F57B10.8 34
  • 26 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ESF2 34 36
  • 22 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4929 34
  • 37 (a)
OneToOne
Species where no ortholog for ABT1 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)
  • chicken (Gallus gallus)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for ABT1 Gene

ENSEMBL:
Gene Tree for ABT1 (if available)
TreeFam:
Gene Tree for ABT1 (if available)

Paralogs for ABT1 Gene

Pseudogenes.org Pseudogenes for ABT1 Gene

genes like me logo Genes that share paralogs with ABT1: view

No data available for Paralogs for ABT1 Gene

Variants for ABT1 Gene

Sequence variations from dbSNP and Humsavar for ABT1 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs1000081617 -- 26,597,780(+) CAGTT(A/C)CCTTC intron-variant
rs1001223960 -- 26,599,185(+) TTCCA(A/G)CTTTC utr-variant-3-prime
rs1002192605 -- 26,600,500(+) ACCTG(C/T)GGCCA downstream-variant-500B, upstream-variant-2KB
rs1002255267 -- 26,595,117(+) GTTGA(A/G)TGGGA upstream-variant-2KB
rs1005200017 -- 26,596,975(+) CGTGT(C/T)AGTCA utr-variant-5-prime

Variation tolerance for ABT1 Gene

Residual Variation Intolerance Score: 16.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.30; 41.11% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ABT1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ABT1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for ABT1 Gene

Disorders for ABT1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ABT1 Gene - From: GeneCards

Disorder Aliases PubMed IDs
neuronal intranuclear inclusion disease
  • neuronal intranuclear hyaline inclusion disease
- elite association - COSMIC cancer census association via MalaCards
Search ABT1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for ABT1

Genetic Association Database (GAD)
ABT1
Human Genome Epidemiology (HuGE) Navigator
ABT1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ABT1
genes like me logo Genes that share disorders with ABT1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ABT1 Gene

Publications for ABT1 Gene

  1. A novel TATA-binding protein-binding protein, ABT1, activates basal transcription and has a yeast homolog that is essential for growth. (PMID: 10648625) Oda T … Muramatsu MA (Molecular and cellular biology 2000) 2 3 4 60
  2. Biochemical and genetic evidence for a role of IGHMBP2 in the translational machinery. (PMID: 19299493) de Planell-Saguer M … Mourelatos Z (Human molecular genetics 2009) 3 4 60
  3. 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 60
  4. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall AJ … Beck S (Nature 2003) 3 4 60
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60

Products for ABT1 Gene

Sources for ABT1 Gene

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