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Scyl1 SCY1-like 1 (S. cerevisiae) [ Mus musculus (house mouse) ]

Gene ID: 78891, updated on 28-Apr-2024

Summary

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Official Symbol
Scyl1provided by MGI
Official Full Name
SCY1-like 1 (S. cerevisiae)provided by MGI
Primary source
MGI:MGI:1931787
See related
Ensembl:ENSMUSG00000024941 AllianceGenome:MGI:1931787
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
mdf; mfd; Ntkl; p105; 2810011O19Rik
Summary
Predicted to enable ATP binding activity and protein kinase activity. Acts upstream of or within cellular protein localization; inflammatory response; and neuron differentiation. Located in cytoplasm. Part of COPI vesicle coat. Is expressed in hindbrain; jaw; otic capsule; and skeleton. Used to study hereditary ataxia. Human ortholog(s) of this gene implicated in autosomal recessive spinocerebellar ataxia 21. Orthologous to human SCYL1 (SCY1 like pseudokinase 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in ovary adult (RPKM 46.3), genital fat pad adult (RPKM 42.0) and 28 other tissues See more
Orthologs
human all
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Genomic context

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Location:
19 A; 19 4.34 cM
Exon count:
16
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 19 NC_000085.7 (5808450..5821461, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 19 NC_000085.6 (5758422..5771419, complement)

Chromosome 19 - NC_000085.7Genomic Context describing neighboring genes Neighboring gene family with sequence similarity 89, member B Neighboring gene zinc ribbon domain containing 2 Neighboring gene latent transforming growth factor beta binding protein 3 Neighboring gene STARR-positive B cell enhancer ABC_E1970 Neighboring gene STARR-seq mESC enhancer starr_45401 Neighboring gene Malat1-associated small cytoplasmic RNA Neighboring gene STARR-positive B cell enhancer ABC_E5679 Neighboring gene metastasis associated lung adenocarcinoma transcript 1 (non-coding RNA) Neighboring gene STARR-seq mESC enhancer starr_45402 Neighboring gene nuclear paraspeckle assembly transcript 1 (non-protein coding) Neighboring gene STARR-seq mESC enhancer starr_45410 Neighboring gene CapStarr-seq enhancer MGSCv37_chr19:5844330-5844513 Neighboring gene STARR-seq mESC enhancer starr_45411

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Mutation in the Scyl1 gene encoding amino-terminal kinase-like protein causes a recessive form of spinocerebellar neurodegeneration. Schmidt WM, et al. EMBO Rep, 2007 Jul. PMID 17571074, Free PMC Article
  2. Neuroprotective effect of adult hematopoietic stem cells in a mouse model of motoneuron degeneration. Cabanes C, et al. Neurobiol Dis, 2007 May. PMID 17337196
  3. Transforming growth factor alpha expression as a response of murine motor neurons to axonal injury and mutation-induced degeneration. Lisovoski F, et al. J Neuropathol Exp Neurol, 1997 May. PMID 9143258
  4. The mouse mutation muscle deficient (mdf) is characterized by a progressive motoneuron disease. Blot S, et al. J Neuropathol Exp Neurol, 1995 Nov. PMID 7595654
  5. Disruptive SCYL1 Mutations Underlie a Syndrome Characterized by Recurrent Episodes of Liver Failure, Peripheral Neuropathy, Cerebellar Atrophy, and Ataxia. Schmidt WM, et al. Am J Hum Genet, 2015 Dec 3. PMID 26581903, Free PMC Article

See all (34) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. SCYL1 and SCYL3 play overlapping roles in maintaining motor neuronal viability in vivo and confirm that SCYL family members are critical regulators of neuronal function and survival
    Title: Overlapping Role of SCYL1 and SCYL3 in Maintaining Motor Neuron Viability.
  2. our results identify SCYL1 as a key regulator of motor neuron survival
    Title: An early onset progressive motor neuron disorder in Scyl1-deficient mice is associated with mislocalization of TDP-43.
  3. Mutation in the Scyl1 gene encoding amino-terminal kinase-like protein causes a recessive form of spinocerebellar neurodegeneration.
    Title: Mutation in the Scyl1 gene encoding amino-terminal kinase-like protein causes a recessive form of spinocerebellar neurodegeneration.
Submit: New GeneRIF Correction

Phenotypes

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Associated conditions

Description Tests
muscle deficient
GeneReviews: Not available

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Targeted (2)  1 citation
  • Chemically induced (ENU) (1) 
  • Spontaneous (1) 
  • Endonuclease-mediated (4)  1 citation

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein kinase activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
acts_upstream_of_or_within inflammatory response IGI
Inferred from Genetic Interaction
more info
 PubMed 
acts_upstream_of_or_within inflammatory response IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within neuron development IGI
Inferred from Genetic Interaction
more info
 PubMed 
acts_upstream_of_or_within protein localization IGI
Inferred from Genetic Interaction
more info
 PubMed 
acts_upstream_of_or_within protein localization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in protein phosphorylation IEA
Inferred from Electronic Annotation
more info
  
involved_in retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within spinal cord motor neuron differentiation IGI
Inferred from Genetic Interaction
more info
 PubMed 
acts_upstream_of_or_within spinal cord motor neuron differentiation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within vesicle-mediated transport IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
part_of COPI vesicle coat IDA
Inferred from Direct Assay
more info
 PubMed 
part_of COPI vesicle coat ISO
Inferred from Sequence Orthology
more info
  
located_in Golgi apparatus ISO
Inferred from Sequence Orthology
more info
  
located_in cis-Golgi network ISO
Inferred from Sequence Orthology
more info
  
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytoskeleton IEA
Inferred from Electronic Annotation
more info
  
located_in cytosol ISO
Inferred from Sequence Orthology
more info
  
located_in endoplasmic reticulum-Golgi intermediate compartment ISO
Inferred from Sequence Orthology
more info
  

General protein information

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Preferred Names
N-terminal kinase-like protein
Names
105 kDa kinase-like protein
SCY1-like protein 1
mitosis-associated kinase-like protein NTKL
ubiquitous protein kinase-like (105 kDa)

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001361921.1 → NP_001348850.1  N-terminal kinase-like protein isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC134563, AK145869, HM856325
    Consensus CDS
    CCDS89318.1
    UniProtKB/TrEMBL
    A0A494BBD3, R4H4Y7
    Related
    ENSMUSP00000025890.10, ENSMUST00000025890.10
    Conserved Domains (3) summary
    PHA03169
    Location:591 → 745
    PHA03169; hypothetical protein; Provisional
    cd14011
    Location:29 → 296
    PK_SCY1_like; Pseudokinase domain of Scy1-like proteins
    sd00044
    Location:351 → 372
    HEAT; HEAT repeat [structural motif]

  2. NM_001361922.1 → NP_001348851.1  N-terminal kinase-like protein isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC134563, AK134356, AK145869, HM856326
    UniProtKB/TrEMBL
    A0A494BBD3
    Related
    ENSMUSP00000158420.2, ENSMUST00000236773.2
    Conserved Domains (2) summary
    cd14011
    Location:29 → 296
    PK_SCY1_like; Pseudokinase domain of Scy1-like proteins
    sd00044
    Location:351 → 372
    HEAT; HEAT repeat [structural motif]

  3. NM_023912.3 → NP_076401.1  N-terminal kinase-like protein isoform 1

    See identical proteins and their annotated locations for NP_076401.1

    Status: VALIDATED

    Source sequence(s)
    AC134563
    Consensus CDS
    CCDS29480.1
    UniProtKB/Swiss-Prot
    Q3TST7, Q3UKU0, Q8K222, Q9EQC5
    UniProtKB/TrEMBL
    A0A494BBD3
    Related
    ENSMUSP00000157476.2, ENSMUST00000236978.2
    Conserved Domains (2) summary
    cd14011
    Location:29 → 296
    PK_SCY1_like; Pseudokinase domain of Scy1-like proteins
    sd00044
    Location:351 → 372
    HEAT; HEAT repeat [structural motif]

RNA

  1. NR_155264.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC134563, AK145869, HM856326
    Related
    ENSMUST00000235599.2

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000085.7 Reference GRCm39 C57BL/6J

    Range
    5808450..5821461 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_030251145.2 → XP_030107005.1  N-terminal kinase-like protein isoform X1

    UniProtKB/TrEMBL
    A0A494BBD3
    Conserved Domains (2) summary
    cd14011
    Location:29 → 296
    PK_SCY1_like; Pseudokinase domain of Scy1-like proteins
    sd00044
    Location:351 → 372
    HEAT; HEAT repeat [structural motif]

RNA

  1. XR_388273.4 RNA Sequence

Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9EQC5.1 GenPept UniProtKB/Swiss-Prot:Q9EQC5

Gene LinkOut

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