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ankyrin repeat & sterile alpha motif domain-containing protein 1B (amyloid-beta protein intracellular domain-associated protein 1, AIDA-1, E2A-PBX1-associated protein, EB-1, ANKS1B)
Function:
- isoform 2 may participate in the regulation of nucleoplasmic coilin protein interactions in neuronal & transformed cells
- isoform 3 can regulate global protein synthesis by altering nucleolar numbers (putative)
- isoform 4 may play a role as a modulator of APP processing
- overexpression of isoform 4 can down-regulate APP processing
- isoform 3 interacts with DLG4 (putative)
- interacts with EPHA8
- isoform 2 interacts with COIL
- isoform 4 interacts with APP & EPHA8
- isoform 6 interacts with EPHA8
- nuclear translocation of isoform 3 requires an NMDAR- dependent proteolytic cleavage (putative)
Structure: contains
- 7 ANK repeats
- contains 1 PID domain
- contains 2 SAM domains (sterile alpha motif)
Compartment:
- cytoplasm
- isoform 2: nucleus
- isoform 3: cell junction, synpase, postsynaptic membrane, postsynaptic density, cell projection, dendritic spine
- synaptic localization requires DLG4 interaction
- nucleus, Cajal body
- translocation to the nucleus in response to stimulation of NMDA receptors (NMDARs) is Ca+2-independent (putative)
- isoform 4: nucleus
- interaction with APP causes its partial exclusion from the nucleus, when APP is overexpressed
- nucleus
Alternative splicing: named isoforms=8
Expression:
- highly expressed in marrow from patients with pre-B ALL associated with the t(1;19) translocation
- strongly expressed in brain & testis
- expressed in fetal brain
- isoform 4 is highly expressed in brain (at protein level)
- isoform 6 is expressed in brain & several cancer cell lines
- 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
General
ankyrin repeat domain protein (ANKRD)
phosphoprotein
sterile alpha motif domain-containing protein (SAMD)
Properties
SIZE: entity length = 1249 aa
MW = 138 kD
COMPARTMENT: cytoplasm
cell nucleus
MOTIF: ankyrin repeat
NAME: ankyrin repeat
SITE: 2-31
ankyrin repeat
NAME: ankyrin repeat
SITE: 58-87
ankyrin repeat
NAME: ankyrin repeat
SITE: 91-120
ankyrin repeat
NAME: ankyrin repeat
SITE: 127-156
ankyrin repeat
NAME: ankyrin repeat
SITE: 160-189
ankyrin repeat
NAME: ankyrin repeat
SITE: 193-222
ankyrin repeat
NAME: ankyrin repeat
SITE: 225-254
sterile alpha motif
NAME: sterile alpha motif
SITE: 811-877
sterile alpha motif
NAME: sterile alpha motif
SITE: 885-950
MOTIF: Tyr phosphorylation site {Y902}
phosphotyrosine interaction domain
NAME: phosphotyrosine interaction domain
SITE: 1057-1214
Database Correlations
OMIM 607815
UniProt Q7Z6G8
PFAM correlations
Kegg hsa:5689
References
UniProt :accession Q7Z6G8