DLK1 Gene (Protein Coding)

Delta Like Non-Canonical Notch Ligand 1

GC14P103961
GIFtS:
45
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 a... See more...

Aliases for DLK1 Gene

Aliases for DLK1 Gene

  • Delta Like Non-Canonical Notch Ligand 1 2 3 5
  • Protein Delta Homolog 1 3 4
  • DLK-1 3 4
  • DLK 3 4
  • PG2 3 4
  • Delta-Like 1 Homolog (Drosophila) 2
  • Delta-Like Homolog (Drosophila) 2
  • Preadipocyte Factor 1 3
  • Delta-Like 1 Homolog 3
  • Fetal Antigen 1 3
  • Secredeltin 3
  • Delta1 3
  • Pref-1 3
  • PREF1 3
  • FA1 3
  • ZOG 3

External Ids for DLK1 Gene

Previous GeneCards Identifiers for DLK1 Gene

  • GC14P098584
  • GC14P095008
  • GC14P099183
  • GC14P100263
  • GC14P101193
  • GC14P081373
  • GC14P101197
  • GC14P101211
  • GC14P101793
  • GC14P103537
  • GC14P103771
  • GC14P102086
  • GC14P102320
  • GC14P102490
  • GC14P102665
  • GC14P102838
  • GC14P103010
  • GC14P103209
  • GC14P103378

Summaries for DLK1 Gene

Entrez Gene Summary for DLK1 Gene

  • 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]

GeneCards Summary for DLK1 Gene

DLK1 (Delta Like Non-Canonical Notch Ligand 1) is a Protein Coding gene. Diseases associated with DLK1 include Idiopathic Central Precocious Puberty and Uniparental Disomy Of Chromosome 14. Among its related pathways are NOTCH2 Activation and Transmission of Signal to the Nucleus and Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers. Gene Ontology (GO) annotations related to this gene include calcium ion binding. An important paralog of this gene is PEAR1.

UniProtKB/Swiss-Prot Summary for DLK1 Gene

Gene Wiki entry for DLK1 Gene

Additional gene information for DLK1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DLK1 Gene

Genomics for DLK1 Gene

GeneHancer (GH) Regulatory Elements for DLK1 Gene

Promoters and enhancers for DLK1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DLK1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the DLK1 gene promoter:
  • Evi-1
  • GATA-2
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for DLK1 Gene

Genomic Locations for DLK1 Gene
chr14:100,725,705-100,738,224
(GRCh38/hg38)
Size:
12,520 bases
Orientation:
Plus strand
chr14:101,192,042-101,201,539
(GRCh37/hg19)
Size:
9,498 bases
Orientation:
Plus strand

Genomic View for DLK1 Gene

Genes around DLK1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DLK1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DLK1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for DLK1 Gene

Proteins for DLK1 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for DLK1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P80370-DLK1_HUMAN
    Recommended name:
    Protein delta homolog 1
    Protein Accession:
    P80370
    Secondary Accessions:
    • P15803
    • Q96DW5

    Protein attributes for DLK1 Gene

    Size:
    383 amino acids
    Molecular mass:
    41300 Da
    Quaternary structure:
    • Monomer. Interacts with SH3RF2 (By similarity).
    SequenceCaution:
    • Sequence=CAA35582.1; Type=Frameshift; Positions=22, 108, 199; Evidence={ECO:0000305};

    Alternative splice isoforms for DLK1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DLK1 Gene

Protein Expression for DLK1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for DLK1 Gene

  • N- and O-glycosylated. O-glycosylated with core 1 or possibly core 8 glycans.
  • Glycosylation at Ser94, Asn100, Thr143, Ser163, Asn165, Asn172, Ser214, Thr222, Ser251, Thr256, Ser260, and Thr269
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • DLK1_HUMAN (745)

Other Protein References for DLK1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Boster Bio Antibodies for DLK1
  • Santa Cruz Biotechnology (SCBT) Antibodies for DLK1

No data available for DME Specific Peptides for DLK1 Gene

Domains & Families for DLK1 Gene

Gene Families for DLK1 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins
  • Predicted secreted proteins

Protein Domains for DLK1 Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for DLK1 Gene

GenScript: Design optimal peptide antigens:
  • pG2 (DLK1_HUMAN)
  • Delta-like 1 (Q0H2C6_HUMAN)
  • Brevideltin (Q45KX0_HUMAN)
  • Secredeltin (Q4U3E1_HUMAN)
  • Delta-like 1 homolog (Drosophila) (Q969Y6_HUMAN)
genes like me logo Genes that share domains with DLK1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for DLK1 Gene

Function for DLK1 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for DLK1 Gene

UniProtKB/Swiss-Prot Function:
May have a role in neuroendocrine differentiation.
GENATLAS Biochemistry:
delta (Drosophila)-like 1,member of the EGF-like homeotic family,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 glumerulose cells

Phenotypes From GWAS Catalog for DLK1 Gene

Gene Ontology (GO) - Molecular Function for DLK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005509 calcium ion binding IEA --
genes like me logo Genes that share ontologies with DLK1: view
genes like me logo Genes that share phenotypes with DLK1: view

Animal Models for DLK1 Gene

MGI Knock Outs for DLK1:

Animal Model Products

CRISPR Products

Clone Products

  • Addgene plasmids for DLK1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for DLK1 Gene

Localization for DLK1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DLK1 Gene

Membrane; Single-pass type I membrane protein. Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DLK1 gene
Compartment Confidence
extracellular 4
plasma membrane 3
cytoskeleton 2
nucleus 2
cytosol 2
mitochondrion 1
peroxisome 0
endoplasmic reticulum 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DLK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IDA 7925474
GO:0005737 cytoplasm IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA,TAS --
genes like me logo Genes that share ontologies with DLK1: view

Pathways & Interactions for DLK1 Gene

genes like me logo Genes that share pathways with DLK1: view

SIGNOR curated interactions for DLK1 Gene

Activates:
Inactivates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for DLK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030154 cell differentiation IEA --
GO:0045746 negative regulation of Notch signaling pathway IDA 25093684
genes like me logo Genes that share ontologies with DLK1: view

Drugs & Compounds for DLK1 Gene

Products:

  1. Drug

(4) Drugs for DLK1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(3) Additional Compounds for DLK1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with DLK1: view

Transcripts for DLK1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for DLK1 Gene

(3) REFSEQ mRNAs :
(21) Additional mRNA sequences :
(1111) Selected AceView cDNA sequences:
(5) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

  • Addgene plasmids for DLK1

Alternative Splicing Database (ASD) splice patterns (SP) for DLK1 Gene

No ASD Table

Relevant External Links for DLK1 Gene

GeneLoc Exon Structure for
DLK1
ECgene alternative splicing isoforms for
DLK1

Expression for DLK1 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DLK1 Gene

mRNA expression in normal human tissues for DLK1 Gene
mRNA expression by GTEx for DLK1 GenemRNA expression by BioGPS for DLK1 Gene

mRNA differential expression in normal tissues according to GTEx for DLK1 Gene

This gene is overexpressed in Adrenal Gland (x27.7), Pituitary (x17.2), and Ovary (x4.8).

Protein differential expression in normal tissues from HIPED for DLK1 Gene

This gene is overexpressed in Fetal Brain (24.4), Urine (22.5), and Fetal ovary (8.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for DLK1 Gene



NURSA nuclear receptor signaling pathways regulating expression of DLK1 Gene:

DLK1

SOURCE GeneReport for Unigene cluster for DLK1 Gene:

Hs.533717

mRNA Expression by UniProt/SwissProt for DLK1 Gene:

P80370-DLK1_HUMAN
Tissue specificity: Found within the stromal cells in close contact to the vascular structure of placental villi, yolk sac, fetal liver, adrenal cortex and pancreas and in the beta cells of the islets of Langerhans in the adult pancreas. Found also in some forms of neuroendocrine lung tumor tissue.

Evidence on tissue expression from TISSUES for DLK1 Gene

  • Adrenal gland(4.7)
  • Pancreas(4.4)
  • Liver(3)
  • Nervous system(3)
  • Muscle(2.7)
  • Heart(2.1)
genes like me logo Genes that share expression patterns with DLK1: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for DLK1 Gene

Orthologs for DLK1 Gene

This gene was present in the common ancestor of animals.

Orthologs for DLK1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia DLK1 33 32
  • 99.22 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia DLK1 33 32
  • 90.1 (n)
 OneToOne
mouse
(Mus musculus)
 Mammalia Dlk1 17 33 32
  • 87.03 (n)
rat
(Rattus norvegicus)
 Mammalia Dlk1 32
  • 87.03 (n)
cow
(Bos Taurus)
 Mammalia DLK 33
  • 83 (a)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia DLK1 33
  • 57 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia DLK1 33
  • 50 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves DLK1 33 32
  • 58.57 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia DLK1 33
  • 50 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia dlk1 32
  • 54.85 (n)
zebrafish
(Danio rerio)
 Actinopterygii LOC101883341 32
  • 55.9 (n)
fruit fly
(Drosophila melanogaster)
 Insecta wry 33
  • 7 (a)
 OneToMany
Species where no ortholog for DLK1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for DLK1 Gene

ENSEMBL:
Gene Tree for DLK1 (if available)
TreeFam:
Gene Tree for DLK1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DLK1: view image

Paralogs for DLK1 Gene

Paralogs for DLK1 Gene

(13) SIMAP similar genes for DLK1 Gene using alignment to 7 proteins:

  • DLK1_HUMAN
  • G3V2R7_HUMAN
  • G3XAH5_HUMAN
  • Q0H2C6_HUMAN
  • Q45KX0_HUMAN
  • Q4U3E1_HUMAN
  • Q969Y6_HUMAN
genes like me logo Genes that share paralogs with DLK1: view

Variants for DLK1 Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for DLK1 Gene

SNP ID Clin Chr 14 pos Variation AA Info Type
rs1000048663 -- 100,728,089(+) T/G intron_variant
rs1000099586 -- 100,727,376(+) G/C intron_variant
rs1000244004 -- 100,730,825(+) A/C/G intron_variant
rs1000316287 -- 100,730,642(+) G/C intron_variant
rs1000348890 -- 100,730,345(+) C/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for DLK1 Gene

Variant ID Type Subtype PubMed ID
esv2751158 CNV gain 17911159
esv3635516 CNV gain 21293372
nsv1425 CNV insertion 18451855
nsv456428 CNV loss 19166990
nsv470668 CNV loss 18288195
nsv483116 CNV gain 15286789
nsv521690 CNV loss 19592680
nsv525723 CNV loss 19592680
nsv565787 CNV loss 21841781
nsv565858 CNV loss 21841781
nsv832876 CNV loss 17160897

Variation tolerance for DLK1 Gene

Residual Variation Intolerance Score: 25.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.97; 68.18% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DLK1 Gene

Human Gene Mutation Database (HGMD)
DLK1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DLK1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DLK1 Gene

Disorders for DLK1 Gene

MalaCards: The human disease database

(12) MalaCards diseases for DLK1 Gene - From: HGMD, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
idiopathic central precocious puberty
uniparental disomy of chromosome 14
  • upd(14)
temple syndrome
  • uniparental disomy, maternal, chromosome 14
kagami-ogata syndrome
  • kos
maternal uniparental disomy
- elite association - COSMIC cancer census association via MalaCards
Search DLK1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for DLK1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with DLK1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DLK1 Gene

Publications for DLK1 Gene

  1. Protein structure of fetal antigen 1 (FA1). A novel circulating human epidermal-growth-factor-like protein expressed in neuroendocrine tumors and its relation to the gene products of dlk and pG2. (PMID: 7925474) Jensen CH … Teisner B (European journal of biochemistry 1994) 2 3 4 23 56
  2. dlk, pG2 and Pref-1 mRNAs encode similar proteins belonging to the EGF-like superfamily. Identification of polymorphic variants of this RNA. (PMID: 7711066) Lee YL … Laborda J (Biochimica et biophysica acta 1995) 3 4 23 56
  3. dlk, a putative mammalian homeotic gene differentially expressed in small cell lung carcinoma and neuroendocrine tumor cell line. (PMID: 8095043) Laborda J … Notario V (The Journal of biological chemistry 1993) 2 3 4 56
  4. Studies on the isolation, structural analysis and tissue localization of fetal antigen 1 and its relation to a human adrenal-specific cDNA, pG2. (PMID: 8501199) Jensen CH … Skjødt K (Human reproduction (Oxford, England) 1993) 3 4 23 56
  5. The imprinted DLK1-MEG3 gene region on chromosome 14q32.2 alters susceptibility to type 1 diabetes. (PMID: 19966805) Wallace C … Clayton DG (Nature genetics 2010) 3 43 56

ExternalLinks

View latest publications for DLK1 gene in Mastermind

Products for DLK1 Gene

  • Addgene plasmids for DLK1

Sources for DLK1 Gene