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Symbol DLK1 contributors: mct - updated : 06-01-2016
HGNC name delta-like 1 homolog (Drosophila)
HGNC id 2907
Corresponding disease
DEL14Q32 chromosome 14q32.2 microdeletion
UPD14M chromosome 14 uniparental disomy, maternal
UPD14P chromosome 14 uniparental disomy, paternal
Location 14q32.2      Physical location : 101.193.201 - 101.201.465
Synonym name
  • stromal cell protein 1
  • ZOG protein, preadipocyte factor 1
  • preadipocyte factor 1
  • fetal antigen 1
  • secredeltin
  • protein delta homolog 1
  • Synonym symbol(s) PG2, SCP1, ZOG, FA1, PREF1, DLK, Pref-1
    TYPE functioning gene
    STRUCTURE 19.17 kb     5 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    regionally located in DLK1-MEG3 (GTL2) reciprocally imprinted region
    TRANSCRIPTS type messenger
    text ? other transcripts
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    5 splicing 1599 41.1 383 - 1995 7711066
    - splicing 1337 - 310 - 2006 16403460
  • also called Pref1
  • Secredeltin with 219bp del
  • epidermal growth factor-like domain 6 and parts of the juxtamembrane region
  • - splicing 1550 - 286 - 1995 7711066
    also called pG2
    - - - - 204 - 2006 16403460
  • also called variant brevideltin
  • stop codon due to a frame-shift, leading to truncated protein
  • - - - - 213 - 2006 16403460
  • also called variant brevideltinin
  • stop codon due to a frame-shift, leading to truncated protein
    Type widely
       expressed in (based on citations)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Endocrineadrenal glandcortex  highly
     neuroendocrinepituitary  highly
    Reproductivefemale systemovary  highly
     female systemplacenta  highly
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    cell lineage nascent hair cells of inner ear, highly in preadipocytes
    cell lines tumor with neuroendocrine features
    at STAGE
    physiological period embryo, pregnancy
    Text placenta, and widely during embryonic development
    IMPRINTING paternally
  • six EGF-like extracellular repeats
  • a unique transmembrane segment
  • a short intracellular region
  • N and O glycosylation sites
  • conjugated GlycoP
    mono polymer monomer
    interspecies homolog to delta Drosophila-like 1
    homolog to Drosophila Notch
    homolog to murine Dlk (86.2pc)
    homolog to C.elegans mo2g9.2
    homolog to rattus Dlk (85.4pc)
    intraspecies homolog to DLL4
    homolog to DLK2
  • EGF-like homeotic family
  • CATEGORY regulatory , antigen , tumor suppressor
    SUBCELLULAR LOCALIZATION     plasma membrane
  • secretory vesicles, type I transmembrane protein
  • membrane-bound precursor that is subsequently cleaved to generate the circulating form
  • secretory granules of the beta cells within the islets of Langherans
  • basic FUNCTION
  • NOTCH1 ligand involved in cell differentiation in a justacrine/paracrine manner and in the pathogenesis of NF1
  • participating in the control of cell differentiation of several cell type, including small cell lung cancer lines, immune stem cells, B cells and adrenal glomerulose cells
  • activates the MEK/ERK pathway to inhibit adipocyte differentiation
  • may play a role in the formation or progression of gliomas
  • coordinated expression of DLK1 and DLK2 may modulate adipogenesis
  • have ability to inhibit preadipocyte differentiation, and to regulate the differentiation of several other cell types through unknown mechanisms
  • by inducing Sox9, promotes chondrogenic induction of mesenchymal cells but inhibits differentiation into adipocytes
  • activating the MAPK kinase/ERK pathway
  • enhancing cancer cell stemness and tumorigenicity
  • dispensable during embryonic neurogenesis
  • DLK1 secreted by SVZ (subventricular zone) niche astrocytes regulates in neural stem cells self-renewal, probably in combination with other niche factors
  • neurogenic continuum, initiating at the early postnatal period and being maintained over the lifetime
  • inhibitory role for DLK1 in the regulation of angiogenesis, mediated by antagonism of the NOTCH pathway,
  • role for DLK1 in the post-natal development of hypothalamic functions, most notably those regulated by the arginine-vasopressin and oxytocin systems
  • major dual inhibitory function of DLK1 on adipogenesis, which places DLK1 as a master regulator of preadipocyte homeostasis
  • its expression is not essential for the normal development of beta-cells, somatotrophs and endothelial cells
  • imprinted gene best known for its ability to inhibit adipogenesis, is a crucial regulator of the myogenic program in skeletal muscle
  • dual biological function of DLK1 as an enhancer of muscle development, but as an inhibitor of adult muscle regeneration
  • CELLULAR PROCESS cell life, differentiation
    text neuroendocrine differentiation, inner ear development
    a component
    small molecule
  • binding NOTCH
  • interacting with GH (regulates GH expression and GH is a DLK1-regulated target gene)
  • novel regulatory mechanism for FGF18 signaling involving GLG1 and DLK1
  • fibronectin FN1) is a DLK1 interacting protein (the inhibitory role of DLK1 is, at least in part, through DLK1 binding to the C-terminal region of fibronectin, which, in turn, activates integrin signaling to result in MEK/ERK activation and the inhibition of adipocyte differentiation)
  • SORT1 binds to DLK1, an inhibitor of adipocyte differentiation, and the overexpression of SORT1 prevents DLK1 downregulation, leading to enhanced inhibition of adipogenesis
  • DLK1 genes may play an important role in the GSK3B-mediated osteoblast apoptosis process
  • cell & other
    corresponding disease(s) UPD14M , UPD14P , DEL14Q32
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    in renal cell carcinoma by gain of methylation upstream of the untranslated MEG3 leading to pathological downregulation
    tumoral     --over  
    in GH-secreting (GH-S) pituitary tumors, and in gliomas
    tumoral     --over  
    in hepatocellular carcinoma, through deregulation of genomic DNA methylation of the imprinted domain
    Susceptibility to type 1 diabetes
    Variant & Polymorphism
    Candidate gene
  • associated with child and adolescent obesity
  • Marker
    Therapy target
  • transgenic mice overexpressing soluble DLK1 in adipose tissue or liver show a marked decrease in adiposity, with reduced adipogenesis and adipocyte marker expression
  • Dlk1(-/-) mice were developmentally retarded in their muscle mass and function owing to inhibition of the myogenic program during embryogenesis