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FLASH GENE
Symbol SCYL1 contributors: mct - updated : 28-02-2015
HGNC name SCY1-like 1 (S. cerevisiae)
HGNC id 14372
Corresponding disease
SCAR21 spinocerebellar ataxia, autosomal recessive 21
Location 11q13.1      Physical location : 65.292.547 - 65.306.182
Synonym name
  • keratoma associated tyrosin kinase
  • N-terminal kinase-like
  • telomerase transcriptional elements-interacting factor
  • telomerase regulation-associated protein
  • coated vesicle-associated kinase of 90 kDa
  • Synonym symbol(s) P105, HT019, GKLP, TAPK, TRAP, NKTL, NKTL, NTKL, TEIF
    DNA
    TYPE breakpoint
    STRUCTURE 13.55 kb     18 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    LOC256676 11q13.1 hypothetical LOC256676 CDCA5 11q12.1 cell division cycle associated 5 ZFPL1 11q13 zinc finger protein-like 1 C11orf2 11q13 chromosome 11 open reading frame2 TM7SF2 11q13 transmembrane 7 superfamily member 2 C11orf5 11q13 chromosome 11 open reading frame 5 FAU 11q12-q13.1 Finkel-Biskis-Reilly murine sarcoma virus (FBR-MuSV) ubiquitously expressed (fox derived); ribosomal protein S30 MRPL49 11q13 mitochondrial ribosomal protein L49 HRD1 11q13 HRD1 protein LOC387778 11 similar to p33 ringo LOC387779 11 similar to Phosphoglycerate mutase 1 (Phosphoglycerate mutase isozyme B) (PGAM-B) (BPG-dependent PGAM 1) CAPN1 11q13 calpain 1, (mu/I) large subunit LOC387780 11 similar to solute carrier family 22 member 6; organic cationic transporter-like 1; solute carrier family 22 (organic anion transporter), member 6 POLA2 11q13.1 polymerase (DNA-directed), alpha (70kD) CDC42EP2 11q13 CDC42 effector protein (Rho GTPase binding) 2 DPF2 11q13 D4, zinc and double PHD fingers family 2 TIGD3 11q13.2 tigger transposable element derived 3 LOC283130 11q13.1 hypothetical protein LOC283130 FKSG44 11q13 hypothetical protein FKSG44 LOC387781 11 similar to UBIQUITIN-LIKE PROTEIN FUBI SCYL1 11q11-q12 SCY1-like 1 (S. cerevisiae) LTBP3 11q12 latent transforming growth factor beta binding protein 3 MTVR1 11q23 Mouse Mammary Turmor Virus Receptor homolog 1 SSSCA1 11q13.1 Sjogren's syndrome/scleroderma autoantigen 1 DKFZp762C186 11q13.1 tangerin KCNK7 11q13 potassium channel, subfamily K, member 7 MAP3K11 11q13.3 mitogen-activated protein kinase kinase kinase 11 RELA 11q13 v-rel reticuloendotheliosis viral oncogene homolog A, nuclear factor of kappa light polypeptide gene enhancer in B-cells 3, p65 (avian) SIPA1 11q13.3 signal-induced proliferation-associated gene 1 LOC387782 11 LOC387782 HTATIP 11q13 HIV-1 Tat interactive protein, 60kDa AYP1 11q13.1 AYP1 protein LOC390211 11 similar to Keratin, type II cytoskeletal 8 (Cytokeratin 8) (K8) (CK 8) LOC91056 11q13.1 hypothetical protein BC004895 OVOL1 11q13 ovo-like 1(Drosophila) FLJ30934 11q13.1 hypothetical protein FLJ30934 CFL1 11q13 cofilin 1 (non-muscle)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    18 - 2667 89.5 808 - 2002 12036289
    isoform A
    18 - 2616 87.9 791 - 2002 12036289
    isoform B
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Lymphoid/Immunelymph node   highly
    Nervousbrainhindbraincerebellum  
    Reproductivefemale systemovary   
     female systembreastmammary gland  
     male systemtestis   
    Skin/Tegumentskin   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow  highly
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron
    NervousPurkinje cell
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N-terminal serine-threonine kinase-like domain
  • four centrally located HEAT repeats
  • a secretory carrier membrane protein domain
  • C terminal cluster of basic amino-acid residue, with C-terminal protein-interaction motifs
  • mono polymer homomer , trimer
    HOMOLOGY
    interspecies homolog to C.elegans W0764.3
    homolog to murine Scyl1
    homolog to rattus LOC293684
    Homologene
    FAMILY SCY1-like family of kinase-like proteins
    CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,cytosolic,microsome
    intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
    intracellular,nucleus
    text
  • in the centrosome during the mitosis
  • expressed in the axoplasm and concentrated at synapses
  • closely co-localized with CEP250 at the proximal ends of centrioles
  • an important protein at the interface between the Golgi apparatus and the membrane trafficking machinery mediated by coatomer (COPI)-coated vesicles, and cytoplasmic component of the nuclear tRNA export machinery
  • basic FUNCTION
  • involved in centrosome-related cellular function
  • involved in intracellular transport processes
  • playing an essential role for neuronal and Purkinje cell survival
  • accessory factor in coatomer I (COPI) coats trafficking and suggest for the first time that alterations in the COPI pathway result in neurodegenerative disease
  • transcriptional regulator, activates transcription of the telomerase reverse transcriptase and DNA polymerase beta genes (Zhao 2005)
  • functions as a centrosome regulator and is involved in DNA damage response, including telomere dysfunction and tumorigenesis (Gong 2009)
  • is required for the maintenance of Golgi morphology
  • conserved N-terminal protein kinase-like domain protein that plays a role in COP1-mediated retrograde protein trafficking in mammalian cells
  • is a key regulator of motor neuron survival
  • functions as a scaffold for key components of COPI coats, and disruption of the scaffolding function of Scyl1 causes tubulation of the endoplasmic reticulum (ER)-Golgi intermediate compartment (ERGIC)
  • distributes in the centrosomes and regulates centrosome status under both physiologic and pathologic conditions
  • closely co-localized with CEP250 at the proximal ends of centrioles, and centriolar loading of SCYL1 stimulated by EGF/AKT could displace CEP250, resulting in centrosome splitting
  • is involved in vital intracellular transport processes, which might provide a basis for understanding the molecular mechanism underlying disease states caused by loss of SCYL1
  • CELLULAR PROCESS cell cycle, division, mitosis
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule nucleotide,
    ATP binding
    protein
  • is a novel MCRS1-interacting protein
  • downstream effector in EGF/PI3K/AKT1 signaling
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) SCAR21
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • murine neurodegenerative disease mdf (autosomal recessive mouse mutant 'muscle deficient') is caused by a loss-of-function mutation in Scyl1
  • Scyl1(-/-) mice share pathological features with many human neurodegenerative conditions