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Aliases for SCYL1 Gene

Aliases for SCYL1 Gene

  • SCY1 Like Pseudokinase 1 2 3 5
  • Telomerase Regulation-Associated Protein 2 3 4
  • Teratoma-Associated Tyrosine Kinase 2 3 4
  • Telomerase Transcriptional Elements-Interacting Factor 2 3
  • Coated Vesicle-Associated Kinase Of 90 KDa 3 4
  • SCY1-Like, Kinase-Like 1 2 3
  • SCY1-Like Protein 1 3 4
  • TRAP 3 4
  • NTKL 3 4
  • GKLP 3 4
  • TAPK 3 4
  • TEIF 3 4
  • Likely Ortholog Of Mouse N-Terminal Kinase-Like Protein 3
  • Telomerase Transcriptional Element-Interacting Factor 4
  • N-Terminal Kinase-Like Protein 3
  • SCY1-Like 1 (S. Cerevisiae) 2
  • N-Terminal Kinase-Like 2
  • SCAR21 3
  • CVAK90 4
  • HT019 3
  • P105 3
  • NKTL 3

External Ids for SCYL1 Gene

Previous HGNC Symbols for SCYL1 Gene

  • NTKL

Previous GeneCards Identifiers for SCYL1 Gene

  • GC11P066974
  • GC11P065542
  • GC11P065068
  • GC11P065069
  • GC11P065049
  • GC11P065292
  • GC11P061619

Summaries for SCYL1 Gene

Entrez Gene Summary for SCYL1 Gene

  • 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]

GeneCards Summary for SCYL1 Gene

SCYL1 (SCY1 Like Pseudokinase 1) is a Protein Coding gene. Diseases associated with SCYL1 include Spinocerebellar Ataxia 21 and Orbit Lymphoma. GO annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is SCYL3.

UniProtKB/Swiss-Prot for SCYL1 Gene

  • Regulates COPI-mediated retrograde protein traffic at the interface between the Golgi apparatus and the endoplasmic reticulum (PubMed:18556652). Involved in the maintenance of the Golgi apparatus morphology (PubMed:26581903). Has no detectable kinase activity in vitro (PubMed:18556652).

  • 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.

Gene Wiki entry for SCYL1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SCYL1 Gene

Genomics for SCYL1 Gene

Regulatory Elements for SCYL1 Gene

Enhancers for SCYL1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11F065910 1.3 FANTOM5 ENCODE 3.4 +390.7 390663 11.4 PKNOX1 MLX ZFP64 ARID4B SIN3A YY1 CBX5 ZNF207 ZNF143 FOS EIF1AD LOC105369352 FOSL1 TSGA10IP MRPL11 ZFPL1 SNX32 CST6 CTSW DRAP1
GH11F065886 0.8 FANTOM5 ENCODE 3 +370.4 370394 18.4 CREB3L1 ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC SNX32 CTSW MRPL11 EIF1AD NEAT1 MUS81 ENSG00000258297 KAT5 FAU POLA2
GH11F065470 2.1 VISTA FANTOM5 Ensembl ENCODE 2.1 -35.0 -34982 40.0 MLX CREB3L1 ZFP64 FEZF1 DMAP1 YBX1 YY1 SLC30A9 ZNF143 ZNF263 LOC105369353 LOC105369352 KAT5 SSSCA1-AS1 NEAT1 ZFPL1 EIF1AD EHBP1L1 MRPL11 POLA2
GH11F065521 0.9 FANTOM5 ENCODE 0.8 -0.6 -643 5.0 HDGF PKNOX1 MLX CREB3L1 ARID4B SIN3A DMAP1 ZNF2 SLC30A9 ZNF766 NEAT1 DPF2 SLC25A45 GC11P065522 SCYL1
GH11F065527 0.5 ENCODE 0.8 +2.9 2885 0.3 SCYL1 GC11P065537
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around SCYL1 on UCSC Golden Path with GeneCards custom track

Promoters for SCYL1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000563849 135 1201 HDGF PKNOX1 ATF1 MLX CREB3L1 ARID4B SIN3A DMAP1 ZNF2 ZNF48

Genomic Location for SCYL1 Gene

Chromosome:
11
Start:
65,525,065 bp from pter
End:
65,538,711 bp from pter
Size:
13,647 bases
Orientation:
Plus strand

Genomic View for SCYL1 Gene

Genes around SCYL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SCYL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SCYL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SCYL1 Gene

Proteins for SCYL1 Gene

  • Protein details for SCYL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96KG9-SCYL1_HUMAN
    Recommended name:
    N-terminal kinase-like protein
    Protein Accession:
    Q96KG9
    Secondary Accessions:
    • A6NJF1
    • Q96G50
    • Q96KG8
    • Q96KH1
    • Q9HAW5
    • Q9HBL3
    • Q9NR53

    Protein attributes for SCYL1 Gene

    Size:
    808 amino acids
    Molecular mass:
    89631 Da
    Quaternary structure:
    • Interacts with GORAB. Interacts with COPA, COPB1 and COPB2 (By similarity). Homooligomer. Interacts with AP2B1.
    SequenceCaution:
    • Sequence=AAG09726.1; Type=Frameshift; Positions=289, 307; Evidence={ECO:0000305}; Sequence=AAG17902.1; Type=Frameshift; Positions=Several; Evidence={ECO:0000305};

    Alternative splice isoforms for SCYL1 Gene

neXtProt entry for SCYL1 Gene

Post-translational modifications for SCYL1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for SCYL1 Gene

Domains & Families for SCYL1 Gene

Gene Families for SCYL1 Gene

Protein Domains for SCYL1 Gene

Suggested Antigen Peptide Sequences for SCYL1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96KG9

UniProtKB/Swiss-Prot:

SCYL1_HUMAN :
  • The protein kinase domain is predicted to be catalytically inactive.
  • Belongs to the protein kinase superfamily.
  • Contains 3 HEAT repeats.
Domain:
  • The protein kinase domain is predicted to be catalytically inactive.
  • Contains 1 protein kinase domain.
Family:
  • Belongs to the protein kinase superfamily.
Similarity:
  • Contains 3 HEAT repeats.
genes like me logo Genes that share domains with SCYL1: view

Function for SCYL1 Gene

Molecular function for SCYL1 Gene

UniProtKB/Swiss-Prot Function:
Regulates COPI-mediated retrograde protein traffic at the interface between the Golgi apparatus and the endoplasmic reticulum (PubMed:18556652). Involved in the maintenance of the Golgi apparatus morphology (PubMed:26581903). Has no detectable kinase activity in vitro (PubMed:18556652).
UniProtKB/Swiss-Prot 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.

Gene Ontology (GO) - Molecular Function for SCYL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0004672 protein kinase activity IEA --
GO:0004713 protein tyrosine kinase activity NAS 10843802
GO:0005524 ATP binding IEA --
GO:0098641 cadherin binding involved in cell-cell adhesion IDA 25468996
genes like me logo Genes that share ontologies with SCYL1: view
genes like me logo Genes that share phenotypes with SCYL1: view

Animal Models for SCYL1 Gene

MGI Knock Outs for SCYL1:

Animal Model Products

  • Taconic Biosciences Mouse Models for SCYL1

miRNA for SCYL1 Gene

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for SCYL1

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SCYL1 Gene

Localization for SCYL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SCYL1 Gene

Cytoplasm, cytoskeleton, microtubule organizing center, 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.
Isoform 1: Cytoplasm. Note=Cytoplasmic throughout the cell cycle.
Isoform 2: Cytoplasm. Note=Cytoplasmic throughout the cell cycle.
Isoform 3: Cytoplasm. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Note=Cytoplasmic during interphase and centrosomal during mitosis, it localizes to the centrosomes in a microtubule-independent manner.
Isoform 6: Nucleus.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SCYL1 Gene COMPARTMENTS Subcellular localization image for SCYL1 gene
Compartment Confidence
cytoskeleton 5
golgi apparatus 5
nucleus 4
cytosol 3

Gene Ontology (GO) - Cellular Components for SCYL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm ISS,IDA 12783284
GO:0005793 endoplasmic reticulum-Golgi intermediate compartment IEA,IDA 18556652
GO:0005794 Golgi apparatus IEA,IDA 18556652
GO:0005801 cis-Golgi network IDA 18556652
genes like me logo Genes that share ontologies with SCYL1: view

Pathways & Interactions for SCYL1 Gene

SuperPathways for SCYL1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SCYL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006468 protein phosphorylation IEA --
GO:0006810 transport IEA --
GO:0006890 retrograde vesicle-mediated transport, Golgi to ER IDA 18556652
genes like me logo Genes that share ontologies with SCYL1: view

No data available for Pathways by source and SIGNOR curated interactions for SCYL1 Gene

Drugs & Compounds for SCYL1 Gene

(2) Drugs for SCYL1 Gene - From: DrugBank and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Grn163l Investigational Pharma Target 0

(1) Additional Compounds for SCYL1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with SCYL1: view

Transcripts for SCYL1 Gene

Unigene Clusters for SCYL1 Gene

SCY1-like 1 (S. cerevisiae):
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for SCYL1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SCYL1 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8 ^ 9a · 9b · 9c ^ 10a · 10b · 10c ^ 11 ^ 12a · 12b ^ 13a · 13b ^ 14a · 14b ^ 15a ·
SP1: -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7: -
SP8:
SP9:
SP10:
SP11:
SP12: -
SP13:

ExUns: 15b · 15c ^ 16a · 16b ^ 17a · 17b · 17c ^ 18 ^ 19
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

Relevant External Links for SCYL1 Gene

GeneLoc Exon Structure for
SCYL1
ECgene alternative splicing isoforms for
SCYL1

Expression for SCYL1 Gene

mRNA expression in normal human tissues for SCYL1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SCYL1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (8.9) and Bone marrow mesenchymal stem cell (7.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SCYL1 Gene



Protein tissue co-expression partners for SCYL1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SCYL1 Gene:

SCYL1

SOURCE GeneReport for Unigene cluster for SCYL1 Gene:

Hs.238839

mRNA Expression by UniProt/SwissProt for SCYL1 Gene:

Q96KG9-SCYL1_HUMAN
Tissue specificity: Ubiquitous.
genes like me logo Genes that share expression patterns with SCYL1: view

Primer Products

No data available for mRNA differential expression in normal tissues for SCYL1 Gene

Orthologs for SCYL1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SCYL1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SCYL1 34 35
  • 99.41 (n)
dog
(Canis familiaris)
Mammalia SCYL1 34 35
  • 90.24 (n)
cow
(Bos Taurus)
Mammalia SCYL1 34 35
  • 89.17 (n)
mouse
(Mus musculus)
Mammalia Scyl1 34 16 35
  • 87.63 (n)
rat
(Rattus norvegicus)
Mammalia Scyl1 34
  • 87.39 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SCYL1 35
  • 59 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SCYL1 35
  • 56 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SCYL1 35
  • 53 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia scyl1 34
  • 67.91 (n)
Str.394 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.2240 34
zebrafish
(Danio rerio)
Actinopterygii wu:fk36e11 34
  • 66.33 (n)
SCYL1 (1 of 2) 35
  • 64 (a)
OneToMany
SCYL1 (2 of 2) 35
  • 64 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2322 34
fruit fly
(Drosophila melanogaster)
Insecta yata 34 35
  • 56.78 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001091 34
  • 52.35 (n)
worm
(Caenorhabditis elegans)
Secernentea W07G4.3 34 35
  • 46.71 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CEX1 35 37
  • 20 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT2G40730 34
  • 48.31 (n)
rice
(Oryza sativa)
Liliopsida Os01g0819900 34
  • 50.22 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU04279 34
  • 49.35 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 47 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5507 34
Species where no ortholog for SCYL1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SCYL1 Gene

ENSEMBL:
Gene Tree for SCYL1 (if available)
TreeFam:
Gene Tree for SCYL1 (if available)

Paralogs for SCYL1 Gene

Paralogs for SCYL1 Gene

genes like me logo Genes that share paralogs with SCYL1: view

Variants for SCYL1 Gene

Sequence variations from dbSNP and Humsavar for SCYL1 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
VAR_041365 A metastatic melanoma sample
rs864309664 Pathogenic 65,530,716(+) ACAAG(-/G)TGCTG reference, frameshift-variant
rs864309665 Pathogenic 65,536,075(+) GACTG(-/TG)CCCAG reference, frameshift-variant
rs864309666 Pathogenic 65,532,806(+) TCAAG(A/G)TGGGT splice-donor-variant
rs864309667 Pathogenic 65,536,319(+) CGACC(C/T)AGCTG reference, stop-gained

Structural Variations from Database of Genomic Variants (DGV) for SCYL1 Gene

Variant ID Type Subtype PubMed ID
esv2671903 CNV deletion 23128226
nsv361 CNV insertion 18451855
nsv555212 CNV loss 21841781
nsv951018 CNV deletion 24416366

Variation tolerance for SCYL1 Gene

Residual Variation Intolerance Score: 50.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.00; 49.91% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SCYL1 Gene

Human Gene Mutation Database (HGMD)
SCYL1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SCYL1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SCYL1 Gene

Disorders for SCYL1 Gene

MalaCards: The human disease database

(6) MalaCards diseases for SCYL1 Gene - From: ClinVar and DISEASES

Disorder Aliases PubMed IDs
spinocerebellar ataxia 21
  • spinocerebellar ataxia type 21
orbit lymphoma
  • lymphoma of the orbit
maxillary sinusitis
cranial nerve palsy
  • cranial nerve paralysis
mucocutaneous leishmaniasis
  • american cutaneous leishmaniasis
- elite association - COSMIC cancer census association via MalaCards
Search SCYL1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SCYL1_HUMAN
  • Spinocerebellar ataxia, autosomal recessive, 21 (SCAR21) [MIM:616719]: A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR21 is characterized by cerebellar atrophy and ataxia with onset in early childhood. Patients also manifest recurrent episodes of liver failure, hepatic fibrosis and a peripheral neuropathy. {ECO:0000269 PubMed:26581903}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SCYL1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SCYL1
genes like me logo Genes that share disorders with SCYL1: view

No data available for Genatlas for SCYL1 Gene

Publications for SCYL1 Gene

  1. Transcriptional upregulation of DNA polymerase beta by TEIF. (PMID: 15963946) Zhao Y. … Zhang B. (Biochem. Biophys. Res. Commun. 2005) 3 4 22 64
  2. Molecular cloning and characterization of a human gene involved in transcriptional regulation of hTERT. (PMID: 15504359) Tang Z. … Zhang B. (Biochem. Biophys. Res. Commun. 2004) 3 4 22 64
  3. Disruptive SCYL1 Mutations Underlie a Syndrome Characterized by Recurrent Episodes of Liver Failure, Peripheral Neuropathy, Cerebellar Atrophy, and Ataxia. (PMID: 26581903) Schmidt W.M. … Bittner R.E. (Am. J. Hum. Genet. 2015) 3 4 64
  4. Localization of TEIF in the centrosome and its functional association with centrosome amplification in DNA damage, telomere dysfunction and human cancers. (PMID: 19198626) Gong Y. … Zhang B. (Oncogene 2009) 3 22 64
  5. [Expression of TEIF protein in colorectal tumors and its correlation with centrosome abnormality]. (PMID: 19958622) Gao Y. … Zhang B. (Ai Zheng 2009) 3 22 64

Products for SCYL1 Gene

Sources for SCYL1 Gene

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