Human Gene ANKS1B (uc009ztt.1) Description and Page Index
  Description: Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1B (ANKS1B), transcript variant 1, mRNA.
RefSeq Summary (NM_152788): 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].
Transcript (Including UTRs)
   Position: hg19 chr12:99,640,053-100,378,432 Size: 738,380 Total Exon Count: 12 Strand: -
Coding Region
   Position: hg19 chr12:99,640,053-100,378,015 Size: 737,963 Coding Exon Count: 12 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr12:99,640,053-100,378,432)mRNA (may differ from genome)Protein (748 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
neXtProtOMIMPubMedStanford SOURCETreefamUniProtKB

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=Ankyrin repeat and sterile alpha motif domain-containing protein 1B; AltName: Full=Amyloid-beta protein intracellular domain-associated protein 1; Short=AIDA-1; AltName: Full=E2A-PBX1-associated protein; Short=EB-1;
FUNCTION: Isoform 2 may participate in the regulation of nucleoplasmic coilin protein interactions in neuronal and transformed cells.
FUNCTION: Isoform 3 can regulate global protein synthesis by altering nucleolar numbers (By similarity).
FUNCTION: Isoform 4 may play a role as a modulator of APP processing. Overexpression can down-regulate APP processing.
SUBUNIT: 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.
SUBCELLULAR LOCATION: 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).
SUBCELLULAR LOCATION: Isoform 4: Nucleus. Note=The interaction with APP causes its partial exclusion from the nucleus, when APP is overexpressed.
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.
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.
PTM: Isoform 3 nuclear translocation requires an NMDAR-dependent proteolytic cleavage (By similarity).
SIMILARITY: Contains 7 ANK repeats.
SIMILARITY: Contains 1 PID domain.
SIMILARITY: Contains 2 SAM (sterile alpha motif) domains.
SEQUENCE CAUTION: Sequence=AAP38184.2; Type=Erroneous initiation; Note=Translation N-terminally extended;

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): ANKS1B
CDC HuGE Published Literature: ANKS1B
Positive Disease Associations: Benzodiazepines , Body Mass Index , Body Weights and Measures , Cardiovascular Diseases , Cholesterol, HDL , Cholesterol, LDL , Electrocardiography , Leukocyte Count , Lipids , Magnesium , Memory, Short-Term , Myocardial Infarction , response to antipsychotic treatment , Sleep , Subcutaneous Fat , Waist Circumference
Related Studies:
  1. Benzodiazepines
    J L McClay et al. Molecular psychiatry 2011, Genome-wide pharmacogenomic analysis of response to treatment with antipsychotics., Molecular psychiatry. [PubMed 19721433]
  2. Body Mass Index
    Damien C Croteau-Chonka et al. Obesity (Silver Spring, Md.) 2011, Genome-wide association study of anthropometric traits and evidence of interactions with age and study year in Filipino women., Obesity (Silver Spring, Md.). [PubMed 20966902]
  3. Body Weights and Measures
    Caroline S Fox et al. BMC medical genetics 2007, Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project., BMC medical genetics. [PubMed 17903300]
    Adiposity traits are associated with SNPs on the Affymetrix 100K SNP GeneChip. Replication of these initial findings is necessary. These data will serve as a resource for replication as more genes become identified with BMI and WC.
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-  MalaCards Disease Associations
  MalaCards Gene Search: ANKS1B
Diseases sorted by gene-association score: acute lymphocytic leukemia (12), enchondromatosis, multiple, ollier type (4)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 13.63 RPKM in Brain - Nucleus accumbens (basal ganglia)
Total median expression: 136.51 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -210.90417-0.506 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR002110 - Ankyrin_rpt
IPR020683 - Ankyrin_rpt-contain_dom
IPR011993 - PH_like_dom
IPR006020 - PTyr_interaction_dom
IPR001660 - SAM
IPR013761 - SAM/pointed
IPR021129 - SAM_type1

Pfam Domains:
PF00023 - Ankyrin repeat
PF12796 - Ankyrin repeats (3 copies)
PF13606 - Ankyrin repeat
PF13637 - Ankyrin repeats (many copies)
PF13857 - Ankyrin repeats (many copies)

SCOP Domains:
48403 - Ankyrin repeat

Protein Data Bank (PDB) 3-D Structure
MuPIT help




ModBase Predicted Comparative 3D Structure on Q7Z6G8
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0046875 ephrin receptor binding

Biological Process:
GO:1900383 regulation of synaptic plasticity by receptor localization to synapse

Cellular Component:
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0014069 postsynaptic density
GO:0015030 Cajal body
GO:0016020 membrane
GO:0030054 cell junction
GO:0042995 cell projection
GO:0043197 dendritic spine
GO:0043231 intracellular membrane-bounded organelle
GO:0045202 synapse
GO:0045211 postsynaptic membrane

-  Descriptions from all associated GenBank mRNAs
  AF145204 - Homo sapiens E2a-Pbx1-associated protein (EB-1) mRNA, partial cds.
AY281131 - Homo sapiens AIDA-1b mRNA, complete cds.
AY283057 - Homo sapiens AIDA-1bDAnk mRNA, complete cds.
BC160005 - Synthetic construct Homo sapiens clone IMAGE:100063941, MGC:193120 ankyrin repeat and sterile alpha motif domain containing 1B (ANKS1B) mRNA, encodes complete protein.
BC091512 - Homo sapiens cDNA clone IMAGE:6193881, containing frame-shift errors.
AY620824 - Homo sapiens AIDA-1bDelta Ank-2 mRNA, partial cds.
AK124453 - Homo sapiens cDNA FLJ42462 fis, clone BRACE2027258, highly similar to Homo sapiens E2a-Pbx1-associated protein (EB-1) mRNA.

-  Other Names for This Gene
  Alternate Gene Symbols: A5PKY5, A7E259, A8K153, A8MSN4, AK124453, ANS1B_HUMAN, NM_152788, NP_690001, Q5XLJ0, Q6IVB5, Q6NUS4, Q7Z6G6, Q7Z6G7, Q7Z6G8, Q8TAP3, Q9NRX7, Q9Y5K9
UCSC ID: uc009ztt.1
RefSeq Accession: NM_152788
Protein: Q7Z6G8 (aka ANS1B_HUMAN)

-  Gene Model Information
category: coding nonsense-mediated-decay: no RNA accession: AK124453.1
exon count: 12CDS single in 3' UTR: no RNA size: 1851
ORF size: 2244CDS single in intron: no Alignment % ID: 99.78
txCdsPredict score: 4629.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: no retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.