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    DLK1 delta like non-canonical Notch ligand 1 [ Homo sapiens (human) ]

    Gene ID: 8788, updated on 10-Dec-2024

    Summary

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    Official Symbol
    DLK1provided by HGNC
    Official Full Name
    delta like non-canonical Notch ligand 1provided by HGNC
    Primary source
    HGNC:HGNC:2907
    See related
    Ensembl:ENSG00000185559 MIM:176290; AllianceGenome:HGNC:2907
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DLK; FA1; ZOG; pG2; DLK-1; PREF1; Delta1; Pref-1
    Summary
    This gene encodes a transmembrane protein that contains multiple epidermal growth factor repeats that functions as a regulator of cell growth. The encoded protein is involved in the differentiation of several cell types including adipocytes. This gene is located in a region of chromosome 14 frequently showing unparental disomy, and is imprinted and expressed from the paternal allele. A single nucleotide variant in this gene is associated with child and adolescent obesity and shows polar overdominance, where heterozygotes carrying an active paternal allele express the phenotype, while mutant homozygotes are normal. [provided by RefSeq, Nov 2015]
    Expression
    Biased expression in placenta (RPKM 382.3) and adrenal (RPKM 208.0) See more
    Orthologs
    mouse all
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    Genomic context

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    See DLK1 in Genome Data Viewer
    Location:
    14q32.2
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (100726892..100738224)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (94961805..94973139)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (101193229..101204561)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:101155275-101156090 Neighboring gene uncharacterized LOC124903385 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr14:101158852-101160051 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:101160526-101161466 Neighboring gene uncharacterized LOC105370669 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:101180141-101180652 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:101180653-101181164 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:101182743-101183676 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:101183677-101184608 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:101200205-101200972 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:101221473-101222672 Neighboring gene Sharpr-MPRA regulatory region 10698 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:101251634-101252164 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:101272538-101273453 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:101275541-101276109 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:101281498-101281998 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:101290055-101290755 Neighboring gene microRNA 2392 Neighboring gene NANOG hESC enhancer GRCh37_chr14:101296990-101297491 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:101305655-101306416 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:101306417-101307176 Neighboring gene maternally expressed 3 Neighboring gene microRNA 770

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Imprinted DLK1 is a putative tumor suppressor gene and inactivated by epimutation at the region upstream of GTL2 in human renal cell carcinoma. Kawakami T, et al. Hum Mol Genet, 2006 Mar 15. PMID 16439445
    2. Delta-like 1 (Dlk-1), a novel marker of prostate basal and candidate epithelial stem cells, is downregulated by notch signalling in intermediate/transit amplifying cells of the human prostate. Ceder JA, et al. Eur Urol, 2008 Dec. PMID 18375047
    3. Progenitor gene DLK1 might be an independent prognostic factor of liver cancer. Jin ZH, et al. Expert Opin Biol Ther, 2008 Apr. PMID 18352842
    4. The serum levels of the EGF-like homeotic protein dlk1 correlate with different metabolic parameters in two hormonally different children populations in Spain. Hermida C, et al. Clin Endocrinol (Oxf), 2008 Aug. PMID 18248640
    5. Delta-like protein (DLK) is a novel immunohistochemical marker for human hepatoblastomas. Dezso K, et al. Virchows Arch, 2008 Apr. PMID 18236070

    See all (186) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. MiRNAs from the Dlk1-Dio3 locus and miR-224/452 cluster contribute to glioblastoma tumor heterogeneity.
      Title: MiRNAs from the Dlk1-Dio3 locus and miR-224/452 cluster contribute to glioblastoma tumor heterogeneity.
    2. DLK1/DIO3 locus upregulation by a beta-catenin-dependent enhancer drives cell proliferation and liver tumorigenesis.
      Title: DLK1/DIO3 locus upregulation by a β-catenin-dependent enhancer drives cell proliferation and liver tumorigenesis.
    3. Exploring the role of DLK1 in inducing NLRP3 inflammasome activation in bladder epithelial cells in patients with interstitial cystitis.
      Title: Exploring the role of DLK1 in inducing NLRP3 inflammasome activation in bladder epithelial cells in patients with interstitial cystitis.
    4. Pericardial delta like non-canonical NOTCH ligand 1 (Dlk1) augments fibrosis in the heart through epithelial to mesenchymal transition.
      Title: Pericardial delta like non-canonical NOTCH ligand 1 (Dlk1) augments fibrosis in the heart through epithelial to mesenchymal transition.
    5. Familial central precocious puberty due to DLK1 deficiency: novel genetic findings and relevance of serum DLK1 levels.
      Title: Familial central precocious puberty due to DLK1 deficiency: novel genetic findings and relevance of serum DLK1 levels.
    6. Effect of epigenetic activating of Dlk1-Dio3 imprinted cluster on miR-370 expression due to folate deficiency during nerve development.
      Title: Effect of epigenetic activating of Dlk1-Dio3 imprinted cluster on miR-370 expression due to folate deficiency during nerve development.
    7. A new DLK1 defect in a family with idiopathic central precocious puberty: elucidation of the male phenotype.
      Title: A new DLK1 defect in a family with idiopathic central precocious puberty: elucidation of the male phenotype.
    8. Circulating levels of DLK1 and glucose homeostasis in girls with obesity: A pilot study.
      Title: Circulating levels of DLK1 and glucose homeostasis in girls with obesity: A pilot study.
    9. Low Maternal DLK1 Levels at 26 Weeks Is Associated With Small for Gestational Age at Birth.
      Title: Low Maternal DLK1 Levels at 26 Weeks Is Associated With Small for Gestational Age at Birth.
    10. CpG site hypomethylation at ETS1binding region regulates DLK1 expression in Chinese patients with Tetralogy of Fallot.
      Title: CpG site hypomethylation at ETS1‑binding region regulates DLK1 expression in Chinese patients with Tetralogy of Fallot.
    Submit: New GeneRIF Correction See all GeneRIFs (132)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    No evidence available (Last evaluated 2012-04-28)

    ClinGen Genome Curation Page
    Triplosensitivity

    No evidence available (Last evaluated 2012-04-28)

    ClinGen Genome Curation Page

    EBI GWAS Catalog

    Description
    New gene functions in megakaryopoiesis and platelet formation.
    EBI GWAS Catalog
    Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
    EBI GWAS Catalog
    The imprinted DLK1-MEG3 gene region on chromosome 14q32.2 alters susceptibility to type 1 diabetes.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    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 GOA

    Function Evidence Code Pubs
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of Notch signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of Notch signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in extracellular space IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    protein delta homolog 1
    Names
    delta-like 1 homolog
    fetal antigen 1
    preadipocyte factor 1
    secredeltin

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_016863.3 RefSeqGene

      Range
      5028..16360
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1044

    mRNA and Protein(s)

    1. NM_001317172.2 → NP_001304101.2  protein delta homolog 1 isoform 2 preproprotein

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame segment in the 3' coding region compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AL132711
      Consensus CDS
      CCDS81852.1
      UniProtKB/TrEMBL
      A8K019, B2R871, Q969Y6
      Related
      ENSP00000331081.6, ENST00000331224.10
      Conserved Domains (1) summary
      cd00054
      Location:175 → 205
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

    2. NM_003836.7 → NP_003827.4  protein delta homolog 1 isoform 1 preproprotein

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AL132711
      Consensus CDS
      CCDS9963.1
      UniProtKB/Swiss-Prot
      P15803, P80370, Q96DW5
      UniProtKB/TrEMBL
      B2R871
      Related
      ENSP00000340292.4, ENST00000341267.9
      Conserved Domains (1) summary
      cd00054
      Location:175 → 205
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      100726892..100738224
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      94961805..94973139
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001032997.1: Suppressed sequence

      Description
      NM_001032997.1: This RefSeq was removed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P80370.3 GenPept UniProtKB/Swiss-Prot:P80370

    Gene LinkOut

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