The protein encoded by this gene is representative of a family of proteins composed of conserved PDZ and LIM domains. LIM domains are proposed to function in protein-protein recognition in a variety of contexts including gene transcription and development and in cytoskeletal interaction. The LIM domains of this protein bind to protein kinases, whereas the PDZ domain binds to actin filaments. The gene product is involved in the assembly of an actin filament-associated complex essential for transmission of ret/ptc2 mitogenic signaling. The biological function is likely to be that of an adapter, with the PDZ domain localizing the LIM-binding proteins to actin filaments of both skeletal muscle and nonmuscle tissues. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]
Function:
May function as a scaffold on which the coordinated assembly of proteins can occur. May play a role as an adapter that, via its PDZ domain, localizes LIM-binding proteins to actin filaments of both skeletal muscle and nonmuscle tissues. Involved in both of the two fundamental mechanisms of bone formation, direct bone formation (e.g. embryonic flat bones mandible and cranium), and endochondral bone formation (e.g. embryonic long bone development). Plays a role during fracture repair. Involved in BMP6 signaling pathway.
Subcellular Location:
Cytoplasm. Cytoplasm > cytoskeleton. Colocalizes with RET to the cell periphery and in some cytoskeletal components. Colocalizes with TPM2 near the Z line in muscle. Co-localizes with TBX4 and TBX5 to actin filaments.
Tissue Specificity:
Isoform 1 and isoform 2 are expressed ubiquitously, however, isoform 2 predominates in skeletal muscle, isoform 1 is more abundant in lung, spleen, leukocytes and fetal liver.
Similarity:
Contains 3 LIM zinc-binding domains.
Contains 1 PDZ (DHR) domain.
SWISS:
Q9NR12
Gene ID:
9260
Database links:
Entrez Gene: 533851 Cow
Entrez Gene: 611246 Dog
Entrez Gene: 100712754 Guinea pig
Entrez Gene: 100058356 Horse
Entrez Gene: 9260 Human
Entrez Gene: 67399 Mouse
Entrez Gene: 286908 Rat
Entrez Gene: 393813 Zebrafish
Omim: 605903 Human
SwissProt: Q3SX40 Cow
SwissProt: Q9NR12 Human
SwissProt: Q3TJD7 Mouse
SwissProt: Q9Z1Z9 Rat
SwissProt: Q6P7E4 Zebrafish
Unigene: 533040 Human
Unigene: 275648 Mouse
Unigene: 7274 Rat
Unigene: 23664 Zebrafish
Unigene: 121170 Zebrafish
Unigene: 85085 Zebrafish
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