SCYL1 (SCY1 like pseudokinase 1)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
57410
Gene name Gene Name - the full gene name approved by the HGNC.
SCY1 like pseudokinase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SCYL1
Synonyms (NCBI Gene) Gene synonyms aliases
GKLP, HT019, NKTL, NTKL, P105, SCAR21, TAPK, TEIF, TRAP
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q13.1
Summary Summary of gene provided in NCBI Entrez 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-t
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(14)
SNP ID Visualize variation Clinical significance Consequence
rs535912271 A>T Pathogenic Coding sequence variant, stop gained
rs755131489 C>- Likely-pathogenic Frameshift variant, 5 prime UTR variant, coding sequence variant
rs759830598 CA>- Pathogenic Coding sequence variant, frameshift variant
rs864309664 G>- Pathogenic Frameshift variant, coding sequence variant
rs864309665 TG>- Pathogenic Frameshift variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(34)
miRTarBase ID miRNA Experiments Reference
MIRT001596 hsa-let-7b-5p pSILAC 18668040
MIRT028426 hsa-miR-30a-5p Proteomics 18668040
MIRT001596 hsa-let-7b-5p Proteomics;Other 18668040
MIRT051600 hsa-let-7e-5p CLASH 23622248
MIRT043006 hsa-miR-324-3p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(25)
GO ID Ontology Definition Evidence Reference
GO:0003677 Function DNA binding IEA
GO:0004672 Function Protein kinase activity IEA
GO:0005515 Function Protein binding IPI 26871637, 32296183, 32707033, 33961781, 35271311
GO:0005524 Function ATP binding IEA
GO:0005634 Component Nucleus IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
607982 14372 ENSG00000142186
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Q96KG9
Protein name N-terminal kinase-like protein (Coated vesicle-associated kinase of 90 kDa) (SCY1-like protein 1) (Telomerase regulation-associated protein) (Telomerase transcriptional element-interacting factor) (Teratoma-associated tyrosine kinase)
Protein 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). {ECO:0000269|PubMed
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00069 Pkinase 31 → 256 Protein kinase domain Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:12036289}.
Sequence 
MWFFARDPVRDFPFELIPEPPEGGLPGPWALHRGRKKATGSPVSIFVYDVKPGAEEQTQV
AKAAFKRFKTLRHPNILAYIDGLETEKCLHVVTEAVTPLGIYLKARVEAGGLKELEISWG
LHQIVKALSFLVNDCSLIHNNVCMAAVFVDRAGEWKLGGLDYMYSAQGNGGGPPRKGIPE
LEQYDPPELADSSGRVVREKWSADMWRLGCLIWEVFNGPLPRAAALRNPGKIPKTLVPHY
CELVGANPKVRPNPARFLQNCRAPGGFMSNRFVETNLFLEEIQIKEPAEKQKFFQELSKS
LDAFPEDFCRHKVLPQLLTAFEFGNAGAVVLTPLFKVGKFLSAEEYQQKIIPVVVKMFSS
TDRAMRIRLLQQMEQFIQYLDEPTVNTQIFPHVVHGFLDTNPAIREQTVKSMLLLAPKLN
EANLNVELMKHFARLQAKDEQGPIRCNTTVCLGKIGSYLSASTRHRVLTSAFSRATRDPF
APSRVAGVLGFAATHNLYSMNDCAQKILPVLCGLTVDPEKSVRDQAFKAIRSFLSKLESV
SEDPTQLEEVEKDVHAASSPGMGGAAASWAGWAVTGVSSLTSKLIRSHPTTAPTETNIPQ
RPTPEGVPAPAPTPVPATPTTSGHWETQEEDKDTAEDSSTADRWDDEDWGSLEQEAESVL
AQQDDWSTGGQVSRASQVSNSDHKSSKSPESDWSSWEAEGSWEQGWQEPSSQEPPPDGTR
LASEYNWGGPESSDKGDPFATLSARPSTQPRPDSWGEDNWEGLETDSRQVKAELARKKRE
ERRREMEAKRAERKVAKGPMKLGARKLD
Sequence length 808
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome rs864309665, rs864309666, rs864309667, rs1554967681, rs942522644, rs1554969925, rs1554970375, rs1554969894, rs1590740858, rs535912271, rs864309664 N/A
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Asthma Asthma (adult onset) N/A N/A GWAS
Diabetes Type 2 diabetes N/A N/A GWAS
Show/Hide Text Mining Associations (19)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Ataxia Associate 26581903, 29419818
Breast Neoplasms Associate 35948564
Breast Neoplasms Stimulate 36290821
Cerebellar Ataxia Associate 30258122
Cerebellar Diseases Associate 26581903, 29419818
Cholestasis Associate 29419818
Gait Ataxia Associate 26581903
Genetic Diseases Inborn Associate 35948564
Growth Disorders Associate 30258122
Liver Failure Associate 26581903, 29419818, 30258122