RIPK4
Function
Serine/threonine protein kinase (By similarity). Required for embryonic skin development and correct skin homeostasis in adults, via phosphorylation of PKP1 and subsequent promotion of keratinocyte differentiation and cell adhesion (By similarity). It is a direct transcriptional target of TP63 (PubMed:22197488). Plays a role in NF-kappa-B activation (PubMed:12446564).
Involvement in disease
Bartsocas-Papas syndrome
BPS
An autosomal recessive disorder characterized by multiple popliteal pterygia leading to severe arthrogryposis, ankyloblepharon filiforme adnatum, filiform bands between the jaws, synostosis of the carpal/tarsal and phalangeal bones in the hands and feet, digital hypoplasia/aplasia, complete soft-tissue syndactyly, lack of nails, lack of scalp hair, eyebrows and eyelashes, blepharophimosis, cleft lip and/or palate, and hypoplastic external genitalia. Early lethality is common, although survival into childhood and beyond has been reported.
None
The disease is caused by variants affecting the gene represented in this entry.
CHAND syndrome
CHANDS
An autosomal recessive syndrome characterized by ankyloblepharon, sparse, curly and woolly hair, nail dysplasia, and oral frenula.
None
The disease may be caused by variants affecting the gene represented in this entry.
Post-translational modifications
May be phosphorylated by MAP3K2 and MAP3K3.
Proteolytically cleaved by during Fas-induced apoptosis. Cleavage at Asp-388 and Asp-426.
Polyubiquitinated with 'Lys-48' and 'Lys-63'-linked chains by BIRC2/c-IAP1 and BIRC3/c-IAP2, leading to activation of NF-kappa-B.
Sequence Similarities
Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family.
Tissue Specificity
Expressed in hair follicles and skin.
Cellular localization
- Cytoplasm
- Membrane
- Peripheral membrane protein
Alternative names
ANKRD3, DIK, RIPK4, Receptor-interacting serine/threonine-protein kinase 4, Ankyrin repeat domain-containing protein 3, PKC-delta-interacting protein kinase