| SCYL1 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | SCYL1 , GKLP, NKTL, NTKL, P105, TAPK, TEIF, TRAP, HT019, SCAR21, SCY1 like pseudokinase 1 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 607982 MGI: 1931787 HomoloGene: 6947 GeneCards: SCYL1 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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SCY1-like 1 (S. cerevisiae), also known as SCYL1, is a human gene which is highly conserved throughout evolution. [5] [6]
This gene encodes a transcriptional regulator belonging to the SCY1-like family of kinase-like proteins. The protein has a divergent N-terminal kinase domain that is thought to be catalytically inactive, and can bind specific DNA sequences through its C-terminal domain. It activates transcription of the telomerase reverse transcriptase and DNA polymerase beta genes. The protein has been localized to the nucleus, and also to the cytoplasm and centrosomes during mitosis. Multiple transcript variants encoding different isoforms have been found for this gene. At least three of the transcripts code for a protein containing all exons, referred to as full-length (FL). [5]
The mouse homolog of FL-Scyl1 is 90% identical and 93% similar in amino acid content to human FL-Scyl1. In Mus Musculus FL-Scyl1 encodes an 806-amino acid polypeptide. The FL protein contains HEAT repeats and a C-terminal coiled coil domain that also contains multiple dibasic motifs, and ends in the dibasic motif RKLD-COOH.
Scyl1 localizes to the cis-Golgi and ER-Golgi Intermediate Compartment (ERGIC). Scyl1 binds to Coatomer I (COPI) and colocalizes with beta-COPI and ERGIC53. siRNA mediated knockdown of the protein disrupted retrograde flow of the KDEL receptor from the Golgi to the ER. [7] Furthermore, Scyl1 localization in rat hippocampal neurons also demonstrates a similar relationship to COPI. [8]
Mutations in Scyl1 are the genetic defect resulting in the phenotype of muscle deficient mice (mdf mice) that suffer from a progressive neurodegeneration of the cerebellum and lower motor neurons. Mdf mice model human spinocerebellar ataxia type disorders. [9]
Phosphorylase b kinase gamma catalytic chain, skeletal muscle isoform is an enzyme that in humans is encoded by the PHKG1 gene.
Sterile alpha motif and leucine zipper containing kinase AZK, also known as ZAK, is a human gene.
Eukaryotic translation initiation factor 2 subunit 3 (eIF2γ) is a protein that in humans is encoded by the EIF2S3 gene.
Serine/threonine-protein kinase D2 or PKD2 is an enzyme that in humans is encoded by the PRKD2 gene.
PAS domain-containing serine/threonine-protein kinase is an enzyme that in humans is encoded by the PASK gene.
Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2 also known as membrane-associated guanylate kinase inverted 2 (MAGI-2) and atrophin-1-interacting protein 1 (AIP-1) is an enzyme that in humans is encoded by the MAGI2 gene.
Kinesin-associated protein 3 (KAP3) is a protein that in humans is encoded by the KIFAP3 gene. It is a non-motor, accessory subunit which co-oligomerizes with the motor subunits KIF3A and KIF3B or KIF3C, to form heterotrimeric kinesin-2 motor proteins. Kinesin-2 KAP subunits were initially characterized in echinoderms and mice.
40S ribosomal protein S17 is a protein that in humans is encoded by the RPS17 gene.
Serine/threonine-protein kinase PLK2 is an enzyme that in humans is encoded by the PLK2 gene.
Fas-activated serine/threonine kinase is an enzyme that in humans is encoded by the FASTK gene.
MAP kinase-activated protein kinase 5 is an enzyme that in humans is encoded by the MAPKAPK5 gene. The protein encoded by this gene is a member of the serine/threonine kinase family. In response to cellular stress and proinflammatory cytokines, this kinase is activated through its phosphorylation by MAP kinases, including MAPK1/ERK, MAPK14/p38-alpha, and MAPK11/p38-beta. In vitro, this kinase phosphorylates heat shock protein HSP27 at its physiologically relevant sites. Two alternately-spliced transcript variants of this gene encoding distinct isoforms have been reported.
Intracellular hyaluronan-binding protein 4 is a protein that in humans is encoded by the HABP4 gene.
Pregnancy-specific beta-1-glycoprotein 5 is a protein that in humans is encoded by the PSG5 gene.
SH3 domain-binding protein 5 is a protein that in humans is encoded by the SH3BP5 gene.
60S ribosomal protein L41 is a protein that in humans is encoded by the RPL41 gene.
AP-4 complex subunit beta-1 is a protein that in humans is encoded by the AP4B1 gene.
Dual serine/threonine and tyrosine protein kinase is an enzyme that in humans is encoded by the DSTYK gene.
SCY1-like protein 2 is a protein that in humans is encoded by the SCYL2 gene.
Protein-associating with the carboxyl-terminal domain of ezrin is a protein that in humans is encoded by the SCYL3 gene.
RAB6-interacting golgin also known as N-terminal kinase-like-binding protein 1 (NTKL-BP1) or SCY1-like 1-binding protein 1 (SCYL1-BP1) is a protein that in humans is encoded by the GORAB gene.
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