Human Gene SCYL1 (ENST00000270176.10) from GENCODE V44
  Description: Homo sapiens SCY1 like pseudokinase 1 (SCYL1), transcript variant A, mRNA. (from RefSeq NM_020680)
RefSeq Summary (NM_020680): 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. [provided by RefSeq, Jul 2008].
Gencode Transcript: ENST00000270176.10
Gencode Gene: ENSG00000142186.18
Transcript (Including UTRs)
   Position: hg38 chr11:65,525,083-65,538,704 Size: 13,622 Total Exon Count: 18 Strand: +
Coding Region
   Position: hg38 chr11:65,525,154-65,538,566 Size: 13,413 Coding Exon Count: 18 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:65,525,083-65,538,704)mRNA (may differ from genome)Protein (808 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: NTKL_HUMAN
DESCRIPTION: RecName: Full=N-terminal kinase-like protein; AltName: Full=Coated vesicle-associated kinase of 90 kDa; AltName: Full=SCY1-like protein 1; AltName: Full=Telomerase regulation-associated protein; AltName: Full=Telomerase transcriptional element-interacting factor; AltName: Full=Teratoma-associated tyrosine kinase;
FUNCTION: Regulates COPI-mediated retrograde traffic. Has no detectable kinase activity in vitro.
FUNCTION: Isoform 6 acts as transcriptional activator. It binds to three different types of GC-rich DNA binding sites (box-A, -B and -C) in the beta-polymerase promoter region. It also binds to the TERT promoter region.
SUBUNIT: Interacts with GORAB. Interacts with COPA, COPB1 and COPB2 (By similarity). Homooligomer. Interacts with AP2B1.
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, centrosome. Endoplasmic reticulum-Golgi intermediate compartment. Golgi apparatus, cis-Golgi network. Note=Localized to the Endoplasmic reticulum-Golgi intermediate and cis-Golgi in an ARF1-independent manner.
SUBCELLULAR LOCATION: Isoform 1: Cytoplasm. Note=Cytoplasmic throughout the cell cycle.
SUBCELLULAR LOCATION: Isoform 2: Cytoplasm. Note=Cytoplasmic throughout the cell cycle.
SUBCELLULAR LOCATION: Isoform 3: Cytoplasm. Cytoplasm, cytoskeleton, centrosome. Note=Cytoplasmic during interphase and centrosomal during mitosis, it localizes to the centrosomes in a microtubule-independent manner.
SUBCELLULAR LOCATION: Isoform 6: Nucleus.
TISSUE SPECIFICITY: Ubiquitous.
DOMAIN: The protein kinase domain is predicted to be catalytically inactive.
SIMILARITY: Belongs to the protein kinase superfamily.
SIMILARITY: Contains 3 HEAT repeats.
SIMILARITY: Contains 1 protein kinase domain.
SEQUENCE CAUTION: Sequence=AAG09726.1; Type=Frameshift; Positions=289, 307; Sequence=AAG17902.1; Type=Frameshift; Positions=Several;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: SCYL1
Diseases sorted by gene-association score: spinocerebellar ataxia, autosomal recessive 21* (869), spinocerebellar ataxia 21* (283), orbit lymphoma (8), mucocutaneous leishmaniasis (7), cranial nerve palsy (5), exophthalmos (5)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 47.83 RPKM in Testis
Total median expression: 1638.85 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -39.2071-0.552 Picture PostScript Text
3' UTR -46.90138-0.340 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011989 - ARM-like
IPR016024 - ARM-type_fold
IPR011009 - Kinase-like_dom
IPR000719 - Prot_kinase_cat_dom

Pfam Domains:
PF00069 - Protein kinase domain

ModBase Predicted Comparative 3D Structure on Q96KG9
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserGenome BrowserNo orthologNo orthologGenome Browser
Gene Details    Gene Details
Gene Sorter    Gene Sorter
MGIRGDEnsembl  SGD
Protein SequenceProtein SequenceProtein Sequence  Protein Sequence
AlignmentAlignmentAlignment  Alignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003677 DNA binding
GO:0004672 protein kinase activity
GO:0004713 protein tyrosine kinase activity
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0045296 cadherin binding

Biological Process:
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006468 protein phosphorylation
GO:0006890 retrograde vesicle-mediated transport, Golgi to ER
GO:0016192 vesicle-mediated transport
GO:0018108 peptidyl-tyrosine phosphorylation

Cellular Component:
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005793 endoplasmic reticulum-Golgi intermediate compartment
GO:0005794 Golgi apparatus
GO:0005801 cis-Golgi network
GO:0005815 microtubule organizing center
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0016020 membrane
GO:0030126 COPI vesicle coat


-  Descriptions from all associated GenBank mRNAs
  AF297709 - Homo sapiens telomerase regulation-associated protein mRNA, complete cds.
BC069233 - Homo sapiens SCY1-like 1 (S. cerevisiae), mRNA (cDNA clone MGC:78454 IMAGE:6581110), complete cds.
AK314945 - Homo sapiens cDNA, FLJ95857.
AK302198 - Homo sapiens cDNA FLJ59000 complete cds, highly similar to Homo sapiens SCY1-like 1 (SCYL1), mRNA.
AB047077 - Homo sapiens gklp mRNA for kinase-like protein splice variant 2, complete cds.
AB051427 - Homo sapiens gklp mRNA for kinase-like protein, complete cds.
AB051428 - Homo sapiens gklp mRNA for kinase-like protein splice variant 1, complete cds.
AF225424 - Homo sapiens HT019 mRNA, complete cds.
BC009967 - Homo sapiens SCY1-like 1 (S. cerevisiae), mRNA (cDNA clone IMAGE:4299750), partial cds.
KJ902951 - Synthetic construct Homo sapiens clone ccsbBroadEn_12345 SCYL1 gene, encodes complete protein.
KJ905516 - Synthetic construct Homo sapiens clone ccsbBroadEn_15123 SCYL1 gene, encodes complete protein.
DL491202 - Novel nucleic acids.
JD542237 - Sequence 523261 from Patent EP1572962.
JD041080 - Sequence 22104 from Patent EP1572962.
JD443235 - Sequence 424259 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: A6NJF1, CVAK90, ENST00000270176.1, ENST00000270176.2, ENST00000270176.3, ENST00000270176.4, ENST00000270176.5, ENST00000270176.6, ENST00000270176.7, ENST00000270176.8, ENST00000270176.9, GKLP, HT019, NM_020680, NTKL, NTKL_HUMAN, Q96G50, Q96KG8, Q96KG9, Q96KH1, Q9HAW5, Q9HBL3, Q9NR53, TAPK, TEIF, TRAP, uc001oea.1, uc001oea.2, uc001oea.3
UCSC ID: ENST00000270176.10
RefSeq Accession: NM_020680
Protein: Q96KG9 (aka NTKL_HUMAN)
CCDS: CCDS41672.1, CCDS44646.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.