| UHMK1 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | UHMK1 , KIS, KIST, P-CIP2, U2AF homology motif (UHM) kinase 1, U2AF homology motif kinase 1 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 608849 MGI: 1341908 HomoloGene: 7801 GeneCards: UHMK1 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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U2AF homology motif (UHM) kinase 1, also known as UHMK1, is a protein which in humans is encoded by the UHMK1 gene. [5] [6]
UHMK1 is a kinase enzyme which phosphorylates the protein stathmin and has an RNA recognition motif of unknown function. [7]
UHMK1 is highly expressed in the brain and has been genetically implicated in schizophrenia in two genetic studies. [8] [9] Mice with the gene encoding stathmin knocked out, so that they do not express this protein in the brain, show abnormal fear responses. This effect could be developed as an animal model for schizophrenia. [10] UHMK1 also phosphorylates the CNS proteins myelin basic protein (MBP) and synapsin I so that genetic abnormalities in UHMK1 could contribute to the genetic cause of schizophrenia through several different brain pathways. UHMK1 is also implicated in the progression of many cancers such as gastric, [11] liver, [12] colorectal, [13] cervical [14] and leukemia. [15]
Stathmin, also known as metablastin and oncoprotein 18 is a protein that in humans is encoded by the STMN1 gene.
Cyclin-dependent kinase 4 also known as cell division protein kinase 4 is an enzyme that in humans is encoded by the CDK4 gene. CDK4 is a member of the cyclin-dependent kinase family.
CHEK2 is a tumor suppressor gene that encodes the protein CHK2, a serine-threonine kinase. CHK2 is involved in DNA repair, cell cycle arrest or apoptosis in response to DNA damage. Mutations to the CHEK2 gene have been linked to a wide range of cancers.
Neural cell adhesion molecule L1-like protein also known as close homolog of L1 (CHL1) is a protein that in humans is encoded by the CHL1 gene.
Protein kinase C beta type is an enzyme that in humans is encoded by the PRKCB gene.
Pericentriolar material 1, also known as PCM1, is a protein which in humans is encoded by the PCM1 gene.
Protein tyrosine phosphatase non-receptor type 22 (PTPN22) is a cytoplasmatic protein encoded by gene PTPN22 and a member of PEST family of protein tyrosine phosphatases. This protein is also called "PEST-domain Enriched Phosphatase" ("PEP") or "Lymphoid phosphatase" ("LYP"). The name LYP is used strictly for the human protein encoded by PTPN22, but the name PEP is used only for its mouse homolog. However, both proteins have similar biological functions and show 70% identity in amino acid sequence. PTPN22 functions as a negative regulator of T cell receptor (TCR) signaling, which maintains homeostasis of T cell compartment.
Dual specificity tyrosine-phosphorylation-regulated kinase 1A is an enzyme that in humans is encoded by the DYRK1A gene. Alternative splicing of this gene generates several transcript variants differing from each other either in the 5' UTR or in the 3' coding region. These variants encode at least five different isoforms.
Dual specificity mitogen-activated protein kinase kinase 7, also known as MAP kinase kinase 7 or MKK7, is an enzyme that in humans is encoded by the MAP2K7 gene. This protein is a member of the mitogen-activated protein kinase kinase family. The MKK7 protein exists as six different isoforms with three possible N-termini and two possible C-termini.
Serine/threonine-protein kinase D3 (PKD3) or PKC-nu is an enzyme that in humans is encoded by the PRKD3 gene.
G protein-coupled receptor kinase 4 (GRK4) is an enzyme that in humans is encoded by the GRK4 gene.
Mitogen-activated protein kinase kinase kinase 4 is an enzyme that in humans is encoded by the MAP3K4 gene.
Large tumor suppressor kinase 1 (LATS1) is an enzyme that in humans is encoded by the LATS1 gene.
Serine/threonine-protein kinase PAK 5 is an enzyme that in humans is encoded by the PAK5 gene.
Striated muscle preferentially expressed protein kinase, in the human is encoded by the SPEG gene, a member of the myosin light chain kinase protein family. SPEG is involved in the development of the muscle cell cytoskeleton, and the expression of this gene has important roles in the development of skeletal muscles, and their maintenance and function. Mutations are associated with centronuclear myopathies a group of congenital disorders where the cell nuclei are abnormally centrally placed.
Lethal(2) giant larvae protein homolog 1 is a protein that in humans is encoded by the LLGL1 gene.
Serine/threonine-protein kinase 10 is an enzyme that in humans is encoded by the STK10 gene.
Diacylglycerol kinase delta is an enzyme that in humans is encoded by the DGKD gene.
The family with sequence similarity 43 member A (FAM43A) gene, also known as; GCO3P195887, GC03P194406, GC03P191784, and NM_153690.3, codes for a 423 bp protein that is conserved in primates, and orthologs have been found in vertebrate and invertebrate species. Three transcripts have been identified, two protein coding isoforms, and a non-coding transcript (cAug10). Molecular weight of 45.8 kdal in the unphosphorylated state and isoelectric point of 6.1.
Mitogen-activated protein kinase 13, also known as stress-activated protein kinase 4 (SAPK4), is an enzyme that in humans is encoded by the MAPK13 gene.
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