Human Gene ANKS1B (ENST00000549558.6) from GENCODE V44
Description: Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1B (ANKS1B), transcript variant 3, mRNA. (from RefSeq NM_020140) RefSeq Summary (NM_020140): 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]. Gencode Transcript: ENST00000549558.6 Gencode Gene: ENSG00000185046.21 Transcript (Including UTRs) Position: hg38 chr12:98,734,791-99,154,746 Size: 419,956 Total Exon Count: 11 Strand: - Coding Region Position: hg38 chr12:98,735,560-99,154,492 Size: 418,933 Coding Exon Count: 11
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;
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
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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.
US Server
