ANKS1B

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]

Description

Ankyrin repeat and sterile alpha motif domain containing 1B

Tissue specificity

Group enriched (brain, skeletal muscle)

Subcell location

Nucleoplasm, Plasma membrane, Centrosome

Predicted location

Intracellular

Protein family

Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

12 (98726457 - 99984654)

Ensembl ID

ENSG00000185046  (ver. 103.38)

Orthologs

Mouse Anks1b: ENSMUSG00000058589

UniProt

Q7Z6G8

neXtProt

NX_Q7Z6G8

Human splice variants
Mouse splice variants

Protein structure