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
ID:ANS1B_HUMAN 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: Cytoplasm. SUBCELLULAR LOCATION: Isoform 2: Nucleus. 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. SUBCELLULAR LOCATION: Isoform 6: Nucleus. 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
Benzodiazepines J L McClay et al. Molecular psychiatry 2011, Genome-wide pharmacogenomic analysis of response to treatment with antipsychotics., Molecular psychiatry.
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.).
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.
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.
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.
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.
Gene Ontology (GO) Annotations with Structured Vocabulary