Alternative titles; symbolsE2A/PBX1-ACTIVATED GENE IN PRE-B CELLS 1; EB1HGNC Approved Gene Symbol: ANKS1BCytogenetic location: 12q23.1 Genomic coordinates (G...
Alternative titles; symbols
HGNC Approved Gene Symbol: ANKS1B
Cytogenetic location: 12q23.1 Genomic coordinates (GRCh38): 12:98,729,903-99,984,935 (from NCBI)
▼ Cloning and Expression
Using representation display analysis PCR, Fu et al. (1999) found upregulation of EB1 in pre-B acute lymphocytic leukemia (ALL) cells carrying the t(1;19) translocation. They cloned EB1 cDNA by screening a library developed from a t(1;19) pre-B cell line, followed by 3-prime and 5-prime RACE. The deduced 918-amino acid protein contains 2 tandem Eph (see 179610)-related sterile alpha motifs (SAMs) and a C-terminal phosphotyrosine-binding domain. Northern blot analysis detected EB1 expression in adult testis and brain and in fetal brain. By sequence analysis of all EB1 ESTs available from normal brain, testis, and lung cDNA libraries, Fu et al. (1999) determined that the EB1 sequence represented in normal tissue EST databases lacks the long N terminus present in the variant obtained from the t(1;19) pre-B cell library. PCR analysis revealed low levels of the long EB1 variant in pre-B cells that did not contain t(1;19).
▼ Gene Function
The t(1;19) translocation associated with ALL produces E2A (147141)/PBX1 (176310), a chimeric oncoprotein containing the transactivation domains of E2A joined to the homeodomain protein PBX1. Fu et al. (1999) showed that EB1 expression was upregulated in each of 7 t(1;19) cell lines examined and was undetectable in the non-t(1;19) lines. Expression of EB1 was elevated more than 100-fold in bone marrow from patients with pre-B ALL associated with t(1;19) and was extremely low in marrow from patients having pre-B ALL not associated with t(1;19). Fu et al. (1999) concluded that EB1 is a unique and invariant target of E2A/PBX1 expression.
The International Radiation Hybrid Mapping Consortium mapped the ANKS1B gene to chromosome 12 (stSG27079).