InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: FAT4

Summary

InnateDB Protein

IDBP-37300.7

Last Modified

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

Gene Symbol

FAT4

Protein Name

FAT tumor suppressor homolog 4 (Drosophila)

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000335169

InnateDB Gene

IDBG-37298 (FAT4)

Protein Structure

UniProt Annotation

Function

Cadherins are calcium-dependent cell adhesion proteins. FAT4 plays a role in the maintenance of planar cell polarity as well as in inhibition of YAP1-mediated neuroprogenitor cell proliferation and differentiation (By similarity). {ECO:0000250}.

Subcellular Localization

Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}. Note=In the kidney, localizes to primary cilia. {ECO:0000250}.

Disease Associations

Van Maldergem syndrome 2 (VMLDS2) [MIM:615546]: An autosomal recessive disorder characterized by intellectual disability, typical craniofacial features, auditory malformations resulting in hearing loss, and skeletal and limb malformations. Some patients have renal hypoplasia. Brain MRI typically shows periventricular nodular heterotopia. {ECO:0000269PubMed:24056717}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Widely expressed. Expressed in fetal brain, infant brain, brain tumor and colorectal cancer. {ECO:0000269PubMed:15003449, ECO:0000269PubMed:16865240}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.

Experimentally validated
Total	2 [view]
Protein-Protein	2 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005509	calcium ion binding
GO:0005515	protein binding

Biological Process

GO:0007156	homophilic cell adhesion
GO:0007157	heterophilic cell-cell adhesion
GO:0021987	cerebral cortex development
GO:0022008	neurogenesis
GO:0035329	hippo signaling

Cellular Component

GO:0005886	plasma membrane
GO:0016020	membrane
GO:0016021	integral component of membrane
GO:0070062	extracellular vesicular exosome

Protein Structure and Domains

PDB ID

InterPro

IPR000742 Epidermal growth factor-like domain
IPR001791 Laminin G domain
IPR001881 EGF-like calcium-binding domain
IPR002126 Cadherin
IPR008985 Concanavalin A-like lectin/glucanases superfamily
IPR015919 Cadherin-like

PFAM

PF00008
PF00054
PF02210
PF07645
PF00028

PRINTS

PR00205

PIRSF

SMART

SM00181
SM00210
SM00282
SM00179
SM00112

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt