Human Gene ANKS1B (ENST00000547010.5) Description and Page Index
  Description: Isoform 2 may participate in the regulation of nucleoplasmic coilin protein interactions in neuronal and transformed cells. (from UniProt Q7Z6G8)
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].
Gencode Transcript: ENST00000547010.5
Gencode Gene: ENSG00000185046.18
Transcript (Including UTRs)
   Position: hg38 chr12:98,735,560-99,984,271 Size: 1,248,712 Total Exon Count: 18 Strand: -
Coding Region
   Position: hg38 chr12:98,735,560-99,655,078 Size: 919,519 Coding Exon Count: 17 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
Other NamesMethods
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr12:98,735,560-99,984,271)mRNA (may differ from genome)Protein (764 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblExonPrimerGeneCardsHGNCHPRD
LynxMGIneXtProtPubMedStanford SOURCEUniProtKB
Wikipedia

-  Comments and Description Text from UniProtKB
  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;

-  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

-  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 -93.80300-0.313 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:
PF12796 - Ankyrin repeats (3 copies)
PF00640 - Phosphotyrosine interaction domain (PTB/PID)
PF00536 - SAM domain (Sterile alpha motif)

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

2EAM
- NMR MuPIT

2KE7
- NMR MuPIT

2KIV
- NMR MuPIT


ModBase Predicted Comparative 3D Structure on Q7Z6G8
FrontTopSide
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
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  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.
AK124453 - Homo sapiens cDNA FLJ42462 fis, clone BRACE2027258, highly similar to Homo sapiens E2a-Pbx1-associated protein (EB-1) mRNA.
AK294994 - Homo sapiens cDNA FLJ55658 complete cds, highly similar to Homo sapiens E2a-Pbx1-associated protein (EB-1), transcript variant 1, mRNA.
BC142669 - Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1B, mRNA (cDNA clone IMAGE:40148178), complete cds.
AF164792 - Homo sapiens putative 47 kDa protein mRNA, complete cds.
AB529098 - Synthetic construct DNA, clone: pF1KB4374, Homo sapiens ANKS1B gene for ankyrin repeat and sterile alpha motif domain containing 1B, without stop codon, in Flexi system.
BC150204 - Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1B, mRNA (cDNA clone IMAGE:40148859), complete cds.
BC068451 - Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1B, mRNA (cDNA clone IMAGE:5264458), complete cds.
BC026313 - Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1B, mRNA (cDNA clone IMAGE:4811885), complete cds.
AK315954 - Homo sapiens cDNA, FLJ78853 complete cds, highly similar to Homo sapiens E2a-Pbx1-associated protein (EB-1), transcript variant 2, mRNA.
AK294191 - Homo sapiens cDNA FLJ55962 complete cds, highly similar to Homo sapiens E2a-Pbx1-associated protein (EB-1), transcript variant 3, mRNA.
AM980945 - Homo sapiens partial mRNA for putative ankyrin repeat and sterile alpha motif domain containing 1B (ANKS1B gene).
BC091512 - Homo sapiens cDNA clone IMAGE:6193881, containing frame-shift errors.
AK295988 - Homo sapiens cDNA FLJ54689 complete cds, highly similar to Homo sapiens E2a-Pbx1-associated protein (EB-1), transcript variant 2, mRNA.
AY356353 - Homo sapiens cajalin 2 mRNA, partial cds.
AK289768 - Homo sapiens cDNA FLJ76217 complete cds, highly similar to Homo sapiens E2a-Pbx1-associated protein (EB-1), transcript variant 2, mRNA.
AY753193 - Homo sapiens AIDA1C transcript variant 4 mRNA, complete cds, alternatively spliced.
KJ902915 - Synthetic construct Homo sapiens clone ccsbBroadEn_12309 ANKS1B gene, encodes complete protein.
KJ906256 - Synthetic construct Homo sapiens clone ccsbBroadEn_15926 ANKS1B gene, encodes complete protein.
AY281132 - Homo sapiens AIDA-1a mRNA, complete cds.
AY620824 - Homo sapiens AIDA-1bDelta Ank-2 mRNA, partial cds.
CU693208 - Synthetic construct Homo sapiens gateway clone IMAGE:100023210 5' read ANKS1B mRNA.
JD360447 - Sequence 341471 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: A5PKY5, A7E259, A8K153, A8MSN4, ANS1B_HUMAN, AY283057, Q5XLJ0, Q6IVB5, Q6NUS4, Q7Z6G6, Q7Z6G7, Q7Z6G8, Q8TAP3, Q9NRX7, Q9Y5K9, uc001tgf.1, uc001tgf.2, uc001tgf.3
UCSC ID: uc001tgf.3
RefSeq Accession: NM_152788
Protein: Q7Z6G8 (aka ANS1B_HUMAN)

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