PSKH1
entrez
5681
canonical
uniprot
P11801
canonical
ensembl
ENSG00000159792
resolver
ensp
ENSP00000291041
resolver
enst
ENST00000291041
resolver
genesymbol
PSKH1
resolver
hgnc
HGNC:9529
resolver
uniprot
Q9NY19
resolver
uniprot_entry
KPSH1_HUMAN
resolver
uniprot_sec
Q9NY19
resolver
activity_regulation
ACTIVITY REGULATION: Activity depends on Ca(2+) concentration.
uniprot
proteins
amino_acid_sequence
MGCGTSKVLPEPPKDVQLDLVKKVEPFSGTKSDVYKHFITEVDSVGPVKAGFPAASQYAHPCPGPPTAGHTEPPSEPPRRARVAKYRAKFDPRVTAKYDIKALIGRGSFSRVVRVEHRATRQPYAIKMIETKYREGREVCESELRVLRRVRHANIIQLVEVFETQERVYMVMELATGGELFDRIIAKGSFTERDATRVLQMVLDGVRYLHALGITHRDLKPENLLYYHPGTDSKIIITDFGLASARKKGDDCLMKTTCGTPEYIAPEVLVRKPYTNSVDMWALGVIAYILLSGTMPFEDDNRTRLYRQILRGKYSYSGEPWPSVSNLAKDFIDRLLTVDPGARMTALQALRHPWVVSMAASSSMKNLHRSISQNLLKRASSRCQSTKSAQSTRSSRSTRSNKSRRVRERELRELNLRYQQQYNG
uniprot
proteins
disease_involvement
DISEASE: Cholestasis, progressive familial intrahepatic, 13 (PFIC13) [MIM:620962]: A form of progressive cholestasis, a disorder characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease. PFIC13 is an autosomal recessive form characterized by progressive liver dysfunction and chronic renal failure often associated with unilateral renal agenesis and glomerulosclerosis. {ECO:0000269|PubMed:39132680}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.7.11.1
uniprot
proteins
function
FUNCTION: Serine/threonine protein kinase that may be involved in the regulation of pre-mRNA processing. It may phosphorylate components of nuclear splice factor compartments (SFC), such as non-snRNP splicing factors containing a serine/arginine-rich domain (SR proteins). Reversible phosphorylation of SR proteins may cause their release into the nucleoplasm and change their local concentration, thereby influencing alternative splicing. {ECO:0000269|PubMed:12466556}.
uniprot
proteins
mass_dalton
48035
uniprot
proteins
mutagenesis
MUTAGEN 218; /note="D->A: Loss of autophosphorylation."; /evidence="ECO:0000269|PubMed:11087665
uniprot
proteins
post_translational_modification
PTM: Autophosphorylated on serine residues. {ECO:0000269|PubMed:11087665}.; PTM: Myristoylated. Required for membrane association. Prerequisite for palmitoylation to occur. {ECO:0000269|PubMed:14644153}.; PTM: Palmitoylated. {ECO:0000269|PubMed:14644153}.
uniprot
proteins
protein_family
CAMK Ser/Thr protein kinase family
uniprot
proteins
protein_family
Protein kinase superfamily
uniprot
proteins
pubmed
11087665
uniprot
proteins
pubmed
12466556
uniprot
proteins
pubmed
14644153
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17344846
uniprot
proteins
pubmed
2948189
uniprot
proteins
pubmed
39132680
uniprot
proteins
sequence_length
424
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Golgi apparatus {ECO:0000269|PubMed:11087665, ECO:0000269|PubMed:14644153}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:11087665}. Nucleus speckle {ECO:0000269|PubMed:11087665}. Endoplasmic reticulum membrane {ECO:0000269|PubMed:14644153}; Lipid-anchor. Cell membrane {ECO:0000269|PubMed:14644153}; Lipid-anchor {ECO:0000269|PubMed:14644153}. Cytoplasm {ECO:0000269|PubMed:11087665, ECO:0000269|PubMed:14644153}. Note=Localized in the brefeldin A-sensitive Golgi compartment, at centrosomes, in the nucleus with a somewhat speckle-like presence, membrane-associated to the endoplasmic reticulum (ER) and the plasma membrane (PM), and more diffusely in the cytoplasm (PubMed:11087665, PubMed:14644153). Found to concentrate in splicing factor compartments (SFCs) within the nucleus of interphase cells (PubMed:11087665). The acylation-negative form may be only cytoplasmic and nuclear. Acylation seems to allow the sequestering to the intracellular membranes. Myristoylation may mediate targeting to the intracellular non-Golgi membranes and palmitoylation may mediate the targeting to the Golgi membranes. Dual acylation is required to stabilize the interaction with Golgi membranes. {ECO:0000269|PubMed:11087665, ECO:0000269|PubMed:14644153}.
uniprot
proteins