The protein encoded by this gene upregulates trancriptional activation by the Wilms tumor protein and interacts with many other proteins, including CTNNB1, APC, AXIN1, and AXIN2. Defects in this gene are a cause of osteopathia striata with cranial sclerosis (OSCS). [provided by RefSeq, May 2010]
Function:
FAM123B enhances trancription activation by WT1. It also promotes CTNNB1 ubiquitination and degradation and antagonizes Wnt and CTNNB1 signaling. FAM123B is involved in kidney development.
Subcellular Location:
Cytoplasm. Cell membrane; Peripheral membrane protein; Cytoplasmic side. Nucleus. Note: Shuttles between nucleus and cytoplasm. Detected in nuclear paraspeckles that are found close to splicing speckles.
SWISS:
Q5JTC6
Gene ID:
139285
Database links:
Entrez Gene: 139285 Human
Entrez Gene: 72345 Mouse
Omim: 300647 Human
SwissProt: Q5JTC6 Human
SwissProt: Q7TS75 Mouse
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Paraformaldehyde-fixed, paraffin embedded (rat brain); Antigen retrieval by boiling in sodium citrate buffer (pH6.0) for 15min; Block endogenous peroxidase by 3% hydrogen peroxide for 20 minutes; Blocking buffer (normal goat serum) at 37°C for 30min; Antibody incubation with (WTX) Polyclonal Antibody, Unconjugated (SL14710R) at 1:200 overnight at 4°C, followed by operating according to SP Kit(Rabbit) (sp-0023) instructionsand DAB staining.
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