InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: FAM123B

Summary

InnateDB Protein

IDBP-73113.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

FAM123B

Protein Name

family with sequence similarity 123B

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000364003

InnateDB Gene

IDBG-73111 (FAM123B)

Protein Structure

UniProt Annotation

Function

Regulator of the canonical Wnt signaling pathway. Acts by specifically binding phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2), translocating to the cell membrane and interacting with key regulators of the canonical Wnt signaling pathway, such as components of the beta-catenin destruction complex. Acts both as a positive and negative regulator of the Wnt signaling pathway, depending on the context: acts as a positive regulator by promoting LRP6 phosphorylation. Also acts as a negative regulator by acting as a scaffold protein for the beta- catenin destruction complex and promoting stabilization of Axin at the cell membrane. Promotes CTNNB1 ubiquitination and degradation. Involved in kidney development. {ECO:0000269PubMed:17510365, ECO:0000269PubMed:17925383, ECO:0000269PubMed:19416806, ECO:0000269PubMed:21304492, ECO:0000269PubMed:21498506}.

Subcellular Localization

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. Translocates to the cell membrane following binding to PtdIns(4,5)P2.

Disease Associations

Osteopathia striata with cranial sclerosis (OSCS) [MIM:300373]: An X-linked dominant sclerosing bone dysplasia that presents in females with macrocephaly, cleft palate, facial palsy, conductive hearing loss, mild learning disabilities, sclerosis of the long bones and skull. Longitudinal striations are visible on radiographs of the long bones, pelvis, and scapulae (osteopathia striata). In males this entity is usually associated with fetal or neonatal lethality. Occasional surviving males have, in addition to hyperostosis, cardiac, intestinal, and genitourinary malformations. {ECO:0000269PubMed:19079258}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Detected in fetal and adult kidney, brain and spleen. {ECO:0000269PubMed:19416806}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 16 experimentally validated interaction(s) in this database.

Experimentally validated
Total	16 [view]
Protein-Protein	15 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding
GO:0005546	phosphatidylinositol-4,5-bisphosphate binding
GO:0008013	beta-catenin binding

Biological Process

GO:0016055	Wnt signaling pathway
GO:0060828	regulation of canonical Wnt signaling pathway
GO:0090090	negative regulation of canonical Wnt signaling pathway
GO:0090263	positive regulation of canonical Wnt signaling pathway