RIPK5

Dual serine/threonine and tyrosine protein kinase is an enzyme that in humans is encoded by the DSTYK gene.^[5][6]

DSTYK
Identifiers
Aliases	DSTYK, CAKUT1, DustyPK, RIP5, RIPK5, HDCMD38P, dual serine/threonine and tyrosine protein kinase, SPG23
External IDs	OMIM: 612666; MGI: 1925064; HomoloGene: 19711; GeneCards: DSTYK; OMA:DSTYK - orthologs
Gene location (Human) Chr. Chromosome 1 (human)[1] Band 1q32.1 Start 205,142,505 bp[1] End 205,211,702 bp[1]
Gene location (Mouse) Chr. Chromosome 1 (mouse)[2] Band 1|1 E4 Start 132,345,293 bp[2] End 132,394,696 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in lateral nuclear group of thalamus internal globus pallidus superior vestibular nucleus inferior ganglion of vagus nerve ventral tegmental area Pons pars compacta cerebellar vermis pars reticulata subthalamic nucleus Top expressed in ciliary body habenula secondary oocyte zygote utricle epithelium of lens iris Rostral migratory stream retinal pigment epithelium vestibular membrane of cochlear duct More reference expression data BioGPS More reference expression data
Gene ontology Molecular function transferase activity nucleotide binding protein serine/threonine/tyrosine kinase activity protein tyrosine kinase activity protein kinase activity ATP binding kinase activity protein serine/threonine kinase activity Cellular component cytoplasm cell junction plasma membrane basolateral plasma membrane apical plasma membrane membrane cytosol Biological process positive regulation of fibroblast growth factor receptor signaling pathway positive regulation of kinase activity peptidyl-tyrosine phosphorylation protein phosphorylation cellular response to fibroblast growth factor stimulus phosphorylation positive regulation of ERK1 and ERK2 cascade negative regulation of apoptotic process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 25778 213452 Ensembl ENSG00000133059 ENSMUSG00000042046 UniProt Q6XUX3 Q6XUX1 RefSeq (mRNA) NM_015375 NM_199462 NM_172516 RefSeq (protein) NP_056190 NP_955749 NP_766104 Location (UCSC) Chr 1: 205.14 – 205.21 Mb Chr 1: 132.35 – 132.39 Mb PubMed search [3] [4]
Wikidata
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This protein is also known as the Dusty protein kinase and the Receptor interacting protein 5 (RIP5).

This gene encodes a dual serine/threonine and tyrosine protein kinase which is expressed in multiple tissues. Multiple alternatively spliced transcript variants have been found, but the biological validity of some variants has not been determined.^[6]

In melanocytic cells RIPK5 gene expression may be regulated by MITF.^[7]

Mutations in this gene have been associated with hereditary spastic paraplegia type 23.^[8]

"Diagram of HsInv0006 (orange bar) genomic region showing the effect of the inverted allele on the expression of neighboring genes in different tissues according to the GTEx data and the inversion tag SNP in Europeans associated to increased risk of Glaucoma" ^[9]

It has also seen that DSTYK deletion causes pigmentation problems and high cell death after ultraviolet irradiation. In a study conducted by Giner-Delgado, Carla, et al.^[10] it has been observed that the inversion of the first intron has been associated with changes in expression in the proximal genes and with an increase in the expression of DSTKY itself. Due to the deleterious effect caused by the absence of expression, the positive selection of this investment could explain its increase in the African population. They also noted that the investment has been linked to an increased risk of glaucoma in Europeans (which again shows the possible positive selection, since glaucoma is more common and severe in individuals of African descent.