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FLASH GENE

Symbol

ANKS1B

contributors: mct/npt/pgu - updated : 09-03-2010

HGNC name	ankyrin repeat and sterile alpha motif domain containing 1B
HGNC id	24600

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	12q23.1      Physical location : 99.129.070 - 100.378.432
Synonym name	ANKS1B protein
	E2a-Pbx1-associated protein
	amyloid-beta precursor protein intracellular domain associated protein 1
	cajalin 2
Synonym symbol(s)	AIDA, MGC26087, ANKS2, EB-1, cajalin-2, AIDA-1

DNA

TYPE	functioning gene
STRUCTURE	1249.36 kb     26 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_152788 26 splicing 4431 NP_690001 138 1248 - 2005 15862129 AIDA-1a does not bind coilin as efficiently as AIDA-1c intracellular distribution of AIDA-1a can be modified by over-expression of AbetaPP NM_181670 - splicing 3287 NP_858056 57 510 - 2005 15862129 NM_020140 11 splicing 1714 NP_064525 47 414 in brain and several cancer cell lines 2005 15862129 AIDA-1c interacts with the Cajal bodie marker protein, coilin competes with SmB' for coilin binding sites, but does not bind SMN

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular vessel       moderately Digestive mouth tongue     moderately Lymphoid/Immune thymus       highly Nervous brain       predominantly Reproductive male system testis     moderately

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Nervous peripherous

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	two tandem Eph-related sterile alpha motifs (SAMs)
	at C-terminus, two closely juxtaposed sterile alpha motif (SAM) domains (observed disparity between the thermal stabilities of the two SAM domains suggests a mechanism whereby the second SAM domain decouples from the first SAM domain to facilitate translocation of ANKS1B to the nucleus) and a phosphotyrosine binding domain

HOMOLOGY

interspecies

ortholog to murine Anks1b

Homologene

FAMILY

ankyrin repeat and sterile alpha motif domain-containing (Anks) protein family

CATEGORY

regulatory

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm
	intracellular,nucleus
text	membrane-associated

basic FUNCTION	may participate in the regulation of nucleoplasmic coilin protein interactions in neuronal and transformed cells
	possible role in normal brain development and in the pathogenesis of Alzheimer disease
	possible function for ANKS family proteins as scaffolding proteins of the EPHA8 signaling pathway
	neuronal scaffolding protein, believed to act as a convener of signals arising at postsynaptic densities

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

possible function for ANKS family proteins (ANKS1A, ANKS1B) as scaffolding proteins of the EPHA8 signaling pathway

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   in pre-B acute lymphocytic leukemia (ALL) cells carrying the t(1;19) translocation

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS