Homo sapiens Protein: RIPK4 | |||||||||||||||||||
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Summary | |||||||||||||||||||
InnateDB Protein | IDBP-3986.7 | ||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
Gene Symbol | RIPK4 | ||||||||||||||||||
Protein Name | receptor-interacting serine-threonine kinase 4 | ||||||||||||||||||
Synonyms | |||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||
Ensembl Protein | ENSP00000332454 | ||||||||||||||||||
InnateDB Gene | IDBG-3982 (RIPK4) | ||||||||||||||||||
Protein Structure |
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UniProt Annotation | |||||||||||||||||||
Function | Involved in stratified epithelial development. It is a direct transcriptional target of TP63. Plays a role in NF-kappa-B activation. {ECO:0000269PubMed:12446564, ECO:0000269PubMed:22197488}. | ||||||||||||||||||
Subcellular Localization | Cytoplasm. Membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}. | ||||||||||||||||||
Disease Associations | Popliteal pterygium syndrome, lethal type (PPS-L) [MIM:263650]: 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. Note=The disease is caused by mutations affecting the gene represented in this entry. | ||||||||||||||||||
Tissue Specificity | |||||||||||||||||||
Comments | |||||||||||||||||||
Interactions | |||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 18 experimentally validated interaction(s) in this database.
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Gene Ontology | |||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||
PDB ID | |||||||||||||||||||
InterPro |
IPR000719
Protein kinase domain IPR001245 Serine-threonine/tyrosine-protein kinase catalytic domain IPR002110 Ankyrin repeat IPR002290 Serine/threonine/dual specificity protein kinase, catalytic domain IPR011009 Protein kinase-like domain IPR020635 Tyrosine-protein kinase, catalytic domain IPR020683 Ankyrin repeat-containing domain |
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PFAM |
PF00069
PF07714 PF00023 PF13606 PF11929 PF12796 |
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PRINTS |
PR00109
PR01415 |
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PIRSF | |||||||||||||||||||
SMART |
SM00248
SM00220 SM00219 |
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TIGRFAMs | |||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||
Modification | |||||||||||||||||||
Cross-References | |||||||||||||||||||
SwissProt | P57078 | ||||||||||||||||||
PhosphoSite | PhosphoSite-P57078 | ||||||||||||||||||
TrEMBL | B7ZAU7 | ||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||
Entrez Gene | 54101 | ||||||||||||||||||
UniGene | Hs.517310 | ||||||||||||||||||
RefSeq | NP_065690 | ||||||||||||||||||
HUGO | HGNC:496 | ||||||||||||||||||
OMIM | 605706 | ||||||||||||||||||
CCDS | CCDS13675 | ||||||||||||||||||
HPRD | 10419 | ||||||||||||||||||
IMGT | |||||||||||||||||||
EMBL | AB047783 AK316412 AP001615 AP001616 AP001743 | ||||||||||||||||||
GenPept | BAA95526 BAB56136 BAH14783 | ||||||||||||||||||