background:
ANKRD54 is a 300 amino acid protein that contains four ankyrin repeats and is expressed as two alternatively spliced isoforms. The gene encoding human ANKRD54 maps to chromosome 22, which houses over 500 genes and is the second smallest human chromosome. Mutations in several of the genes that map to chromosome 22 are involved in the development of Phelan-McDermid syndrome, neurofibromatosis type 2, autism and schizophrenia. Additionally, translocations between chromosomes 9 and 22 may lead to the formation of the Philadelphia chromosome and the subsequent production of the novel fusion protein BCR-Abl, a potent cell proliferation activator found in several types of leukemias.
Function:
Plays an important role in regulating intracellular signaling events associated with erythroid terminal differentiation.
Subunit:
Interacts (via ankyrin repeat region) with LYN (via SH3-domain) in an activation-independent status of LYN (By similarity). Forms a multiprotein complex with LYN and HCLS1. Interacts with TSN2, VAV1, DBNL AND LASP1.
Subcellular Location:
Nucleus. Cytoplasm. Midbody. Note=Shuttles between nucleus and cytoplasm during the cell cycle. EPO stimulation induces nuclear accumulation.
Similarity:
Contains 4 ANK repeats.
Database links:
Entrez Gene: 129138 Human
Entrez Gene: 223690 Mouse
Entrez Gene: 362957 Rat
Omim: 613383 Human
SwissProt: Q6NXT1 Human
SwissProt: Q91WK7 Mouse
SwissProt: Q566C8 Rat
Unigene: 135259 Human
Unigene: 24262 Mous
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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