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

    Gene ID: 78891, updated on 5-Mar-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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    See Scyl1 in Genome Data Viewer
    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)
    • Spontaneous (1) 
    • Targeted (2)  1 citation
    • Chemically induced (ENU) (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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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