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Aliases for ANKS1B Gene

Aliases for ANKS1B Gene

  • Ankyrin Repeat And Sterile Alpha Motif Domain Containing 1B 2 3 5
  • AIDA-1 3 4
  • EB-1 3 4
  • Amyloid-Beta Precursor Protein Intracellular Domain Associated Protein 1 3
  • Amyloid-Beta Protein Intracellular Domain-Associated Protein 1 4
  • E2a-Pbx1-Associated Protein 3
  • E2A-PBX1-Associated Protein 4
  • Cajalin 2 3
  • Cajalin-2 3
  • ANKS2 3
  • AIDA 3
  • EB1 3

External Ids for ANKS1B Gene

Previous GeneCards Identifiers for ANKS1B Gene

  • GC12M097653
  • GC12M099129
  • GC12M096190

Summaries for ANKS1B Gene

Entrez Gene Summary for ANKS1B Gene

  • This gene encodes a multi-domain protein that is predominantly expressed in brain and testis. This protein interacts with amyloid beta protein precursor (AbetaPP) and may have a role in normal brain development, and in the pathogenesis of Alzheimer's disease. Expression of this gene has been shown to be elevated in patients with pre-B cell acute lymphocytic leukemia associated with t(1;19) translocation. Alternatively spliced transcript variants encoding different isoforms (some with different subcellular localization, PMID:15004329) have been described for this gene. [provided by RefSeq, Aug 2011]

GeneCards Summary for ANKS1B Gene

ANKS1B (Ankyrin Repeat And Sterile Alpha Motif Domain Containing 1B) is a Protein Coding gene. Diseases associated with ANKS1B include Acute Lymphocytic Leukemia and Ollier Disease. GO annotations related to this gene include ephrin receptor binding. An important paralog of this gene is ANKS1A.

UniProtKB/Swiss-Prot for ANKS1B Gene

  • Isoform 2 may participate in the regulation of nucleoplasmic coilin protein interactions in neuronal and transformed cells.

  • Isoform 3 can regulate global protein synthesis by altering nucleolar numbers.

  • Isoform 4 may play a role as a modulator of APP processing. Overexpression can down-regulate APP processing.

Gene Wiki entry for ANKS1B Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ANKS1B Gene

Genomics for ANKS1B Gene

Regulatory Elements for ANKS1B Gene

Enhancers for ANKS1B Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around ANKS1B on UCSC Golden Path with GeneCards custom track

Promoters for ANKS1B Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ANKS1B on UCSC Golden Path with GeneCards custom track

Genomic Location for ANKS1B Gene

98,726,457 bp from pter
99,984,727 bp from pter
1,258,271 bases
Minus strand

Genomic View for ANKS1B Gene

Genes around ANKS1B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ANKS1B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ANKS1B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ANKS1B Gene

Proteins for ANKS1B Gene

  • Protein details for ANKS1B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Ankyrin repeat and sterile alpha motif domain-containing protein 1B
    Protein Accession:
    Secondary Accessions:
    • A5PKY5
    • A7E259
    • A8K153
    • A8MSN4
    • B4DFP6
    • B4DH98
    • F8VPM3
    • F8VZR9
    • F8WC27
    • Q5XLJ0
    • Q6IVB5
    • Q6NUS4
    • Q7Z6G6
    • Q7Z6G7
    • Q8TAP3
    • Q9NRX7
    • Q9Y5K9

    Protein attributes for ANKS1B Gene

    1248 amino acids
    Molecular mass:
    138066 Da
    Quaternary structure:
    • Isoform 3 interacts with DLG4 (By similarity). Interacts with EPHA8. Isoform 2 interacts with COIL. Isoform 4 interacts with APP and EPHA8. Isoform 6 interacts with EPHA8.
    • Sequence=AAP38184.2; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ANKS1B Gene

    Alternative splice isoforms for ANKS1B Gene

neXtProt entry for ANKS1B Gene

Proteomics data for ANKS1B Gene at MOPED

Post-translational modifications for ANKS1B Gene

  • Isoform 3 nuclear translocation requires an NMDAR-dependent proteolytic cleavage.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ANKS1B Gene

Domains & Families for ANKS1B Gene

Suggested Antigen Peptide Sequences for ANKS1B Gene

Graphical View of Domain Structure for InterPro Entry



  • Contains 1 PID domain.
  • Contains 7 ANK repeats.
  • Contains 1 PID domain.
  • Contains 2 SAM (sterile alpha motif) domains.
  • Contains 7 ANK repeats.
genes like me logo Genes that share domains with ANKS1B: view

Function for ANKS1B Gene

Molecular function for ANKS1B Gene

UniProtKB/Swiss-Prot Function:
Isoform 2 may participate in the regulation of nucleoplasmic coilin protein interactions in neuronal and transformed cells.
UniProtKB/Swiss-Prot Function:
Isoform 3 can regulate global protein synthesis by altering nucleolar numbers.
UniProtKB/Swiss-Prot Function:
Isoform 4 may play a role as a modulator of APP processing. Overexpression can down-regulate APP processing.
UniProtKB/Swiss-Prot Induction:
Transcriptionally up-regulated in t(1:19) pre-B cell acute lymphocytic leukemia by the chimeric TCF3-PBX1. Not expressed in pre-B cell that lack this translocation.
genes like me logo Genes that share phenotypes with ANKS1B: view

Animal Models for ANKS1B Gene

MGI Knock Outs for ANKS1B:

miRNA for ANKS1B Gene

miRTarBase miRNAs that target ANKS1B

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ANKS1B Gene

Localization for ANKS1B Gene

Subcellular locations from UniProtKB/Swiss-Prot for ANKS1B Gene

Isoform 2: Nucleus.
Isoform 3: Cell junction, synapse, postsynaptic cell membrane, postsynaptic density. Cell projection, dendritic spine. Nucleus. Nucleus, Cajal body. Note=The synaptic localization requires DLG4 interaction. Translocation to the nucleus in response to stimulation of NMDA receptors (NMDARs) in a calcium-independent manner (By similarity). {ECO:0000250}.
Isoform 4: Nucleus. Note=The interaction with APP causes its partial exclusion from the nucleus, when APP is overexpressed.
Isoform 6: Nucleus.

Subcellular locations from

Jensen Localization Image for ANKS1B Gene COMPARTMENTS Subcellular localization image for ANKS1B gene
Compartment Confidence
nucleus 5
cytosol 3
plasma membrane 3
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for ANKS1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0014069 postsynaptic density IEA --
GO:0015030 Cajal body IEA --
GO:0030054 cell junction IEA --
genes like me logo Genes that share ontologies with ANKS1B: view

Pathways & Interactions for ANKS1B Gene

SuperPathways for ANKS1B Gene

No Data Available

Gene Ontology (GO) - Biological Process for ANKS1B Gene


No data available for Pathways by source and SIGNOR curated interactions for ANKS1B Gene

Drugs & Compounds for ANKS1B Gene

(1) Drugs for ANKS1B Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Nutra 0
genes like me logo Genes that share compounds with ANKS1B: view

Transcripts for ANKS1B Gene

mRNA/cDNA for ANKS1B Gene

(29) REFSEQ mRNAs :
(20) Additional mRNA sequences :
(6) Selected AceView cDNA sequences:
(34) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ANKS1B Gene

Ankyrin repeat and sterile alpha motif domain containing 1B:
Representative Sequences:

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ANKS1B Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15a · 15b ^ 16 ^ 17a · 17b ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^
SP1: - - - -
SP2: - - - - - - - - - - - - -
SP4: - - -

ExUns: 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29
SP1: -
SP2: -

Relevant External Links for ANKS1B Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ANKS1B Gene

mRNA expression in normal human tissues for ANKS1B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ANKS1B Gene

This gene is overexpressed in Brain - Nucleus accumbens (basal ganglia) (x5.6), Brain - Frontal Cortex (BA9) (x4.6), Brain - Putamen (basal ganglia) (x4.5), Brain - Caudate (basal ganglia) (x4.4), Brain - Hippocampus (x4.3), Brain - Anterior cingulate cortex (BA24) (x4.2), and Brain - Spinal cord (cervical c-1) (x4.2).

Protein differential expression in normal tissues from HIPED for ANKS1B Gene

This gene is overexpressed in Pancreas (33.1), Liver (15.4), Liver, secretome (10.3), and Bone (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for ANKS1B Gene

SOURCE GeneReport for Unigene cluster for ANKS1B Gene Hs.506458

mRNA Expression by UniProt/SwissProt for ANKS1B Gene

Tissue specificity: Highly expressed in marrow from patients with pre-B ALL associated with the t(1;19) translocation. Strongly expressed in brain and testis. Expressed in fetal brain. Isoform 4 is highly expressed in brain (at protein level). Isoform 6 is expressed in brain and several cancer cell lines.
genes like me logo Genes that share expression patterns with ANKS1B: view

Protein tissue co-expression partners for ANKS1B Gene

- Elite partner

Primer Products

Orthologs for ANKS1B Gene

This gene was present in the common ancestor of animals.

Orthologs for ANKS1B Gene

Organism Taxonomy Gene Similarity Type Details
(Canis familiaris)
Mammalia ANKS1B 35
  • 93.21 (n)
  • 96.35 (a)
  • 94 (a)
(Mus musculus)
Mammalia Anks1b 35
  • 89.76 (n)
  • 93.97 (a)
Anks1b 16
Anks1b 36
  • 85 (a)
(Pan troglodytes)
Mammalia ANKS1B 35
  • 99.84 (n)
  • 99.84 (a)
  • 100 (a)
(Rattus norvegicus)
Mammalia Anks1b 35
  • 89.25 (n)
  • 93.89 (a)
(Bos Taurus)
Mammalia ANKS1B 36
  • 85 (a)
(Monodelphis domestica)
Mammalia -- 36
  • 82 (a)
-- 36
  • 98 (a)
(Ornithorhynchus anatinus)
Mammalia ANKS1B 36
  • 42 (a)
(Gallus gallus)
Aves ANKS1B 35
  • 78.91 (n)
  • 82.89 (a)
  • 78 (a)
(Anolis carolinensis)
Reptilia -- 36
  • 94 (a)
-- 36
  • 80 (a)
(Danio rerio)
Actinopterygii anks1b 35
  • 64.97 (n)
  • 68.25 (a)
anks1b 36
  • 64 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG11168 36
  • 31 (a)
CG4393 36
  • 24 (a)
(Caenorhabditis elegans)
Secernentea C11E4.6 36
  • 20 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.13432 35
Species with no ortholog for ANKS1B:
  • 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)
  • 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 ANKS1B Gene

Gene Tree for ANKS1B (if available)
Gene Tree for ANKS1B (if available)

Paralogs for ANKS1B Gene

Paralogs for ANKS1B Gene Pseudogenes for ANKS1B Gene

genes like me logo Genes that share paralogs with ANKS1B: view

Variants for ANKS1B Gene

Sequence variations from dbSNP and Humsavar for ANKS1B Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs1921023 -- 99,969,854(+) TGAGT(A/G)CTGAT intron-variant
rs1948175 -- 99,939,001(+) TATAA(C/T)AACCA intron-variant
rs1948176 -- 99,943,682(+) attca(A/G)ttacc intron-variant
rs1948177 -- 99,949,786(+) AAATT(C/T)TACTG intron-variant
rs1948178 -- 99,949,891(+) acttt(C/T)tagtg intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ANKS1B Gene

Variant ID Type Subtype PubMed ID
nsv832496 CNV Gain 17160897
nsv826497 CNV Gain 20364138
nsv899462 CNV Loss 21882294
nsv845 CNV Loss 18451855
nsv526324 CNV Loss 19592680
esv29542 CNV Loss 19812545
nsv846 CNV Loss 18451855
esv267572 CNV Insertion 20981092
nsv826499 CNV Gain 20364138
esv2746268 CNV Deletion 23290073
esv9366 CNV Loss 19470904
esv2746269 CNV Deletion 23290073
nsv847 CNV Insertion 18451855
esv2651616 CNV Insertion 19546169
esv3652 CNV Deletion 18987735
nsv510314 CNV Loss 20534489
nsv848 CNV Loss 18451855
esv268775 CNV Insertion 20981092
nsv849 CNV Loss 18451855
esv267418 CNV Insertion 20981092
esv273817 CNV Insertion 20981092
nsv437154 CNV Loss 16327808
nsv9004 CNV Loss 18304495
dgv306e199 CNV Deletion 23128226
esv23428 CNV Loss 19812545
nsv514684 CNV Loss 21397061
nsv442655 CNV CNV 18776908
nsv438232 CNV Loss 16468122
nsv515574 CNV Loss 19592680
dgv307e199 CNV Deletion 23128226
esv33474 CNV Gain 17666407
nsv899463 CNV Loss 21882294
esv2421630 CNV Deletion 20811451
esv32717 CNV Gain 17666407
nsv514685 CNV Loss 21397061
nsv519031 CNV Loss 19592680
nsv470314 CNV Loss 18288195
esv2663586 CNV Deletion 23128226
esv2657898 CNV Deletion 23128226
nsv517202 CNV Loss 19592680
esv2746270 CNV Deletion 23290073
esv999514 CNV Insertion 20482838
esv1457090 CNV Insertion 17803354
dgv1483n71 CNV Loss 21882294
esv2668892 CNV Deletion 23128226
esv2746271 CNV Deletion 23290073
nsv455699 CNV Loss 19166990
nsv525970 CNV Loss 19592680
esv2746272 CNV Deletion 23290073
esv2672495 CNV Deletion 23128226
esv2746273 CNV Deletion 23290073
nsv850 CNV Insertion 18451855
esv2672155 CNV Deletion 23128226
esv22330 CNV Loss 19812545
nsv514686 CNV Loss 21397061

Variation tolerance for ANKS1B Gene

Residual Variation Intolerance Score: 3.89% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.95; 59.75% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ANKS1B Gene

Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ANKS1B Gene

Disorders for ANKS1B Gene

MalaCards: The human disease database

(2) MalaCards diseases for ANKS1B Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
acute lymphocytic leukemia
  • acute lymphoblastic leukemia
ollier disease
  • maffucci syndrome
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for ANKS1B

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with ANKS1B: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ANKS1B Gene

Publications for ANKS1B Gene

  1. EB-1, a tyrosine kinase signal transduction gene, is transcriptionally activated in the t(1;19) subset of pre-B ALL, which express oncoprotein E2a-Pbx1. (PMID: 10490826) Fu X. … Kamps M.P. (Oncogene 1999) 2 3 4 23 67
  2. The effects of siRNA-mediated inhibition of E2A-PBX1 on EB-1 and Wnt16b expression in the 697 pre-B leukemia cell line. (PMID: 16769578) Casagrande G. … Basso G. (Haematologica 2006) 3 23
  3. The intracellular localization of amyloid beta protein precursor (AbetaPP) intracellular domain associated protein-1 (AIDA-1) is regulated by AbetaPP and alternative splicing. (PMID: 15004329) Ghersi E. … D'Adamio L. (J. Alzheimers Dis. 2004) 3 23
  4. Amyloid-beta protein precursor (AbetaPP) intracellular domain- associated protein-1 proteins bind to AbetaPP and modulate its processing in an isoform-specific manner. (PMID: 15347684) Ghersi E. … D'Adamio L. (J. Biol. Chem. 2004) 3 23
  5. Site-specific translocation and evidence of postnatal origin of the t(1;19) E2A-PBX1 fusion in childhood acute lymphoblastic leukemia. (PMID: 12415113) Wiemels J.L. … Pine S.R. (Proc. Natl. Acad. Sci. U.S.A. 2002) 2 3

Products for ANKS1B Gene

Sources for ANKS1B Gene