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Aliases for DLK1 Gene

Aliases for DLK1 Gene

  • Delta-Like 1 Homolog (Drosophila) 2 3 5
  • DLK-1 3 4
  • DLK 3 4
  • PG2 3 4
  • Delta-Like Homolog (Drosophila) 2
  • Preadipocyte Factor 1 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

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 1 Homolog (Drosophila)) is a Protein Coding gene. Diseases associated with DLK1 include Paternal 14Q32.2 Microdeletion Syndrome and Maternal 14Q32.2 Microdeletion Syndrome. 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. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is NOTCH2NL.

UniProtKB/Swiss-Prot for DLK1 Gene

  • May have a role in neuroendocrine differentiation.

Gene Wiki entry for DLK1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DLK1 Gene

Genomics for DLK1 Gene

Regulatory Elements for DLK1 Gene

Enhancers for DLK1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around DLK1 on UCSC Golden Path with GeneCards custom track

Promoters for DLK1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around DLK1 on UCSC Golden Path with GeneCards custom track

Genomic Location for DLK1 Gene

100,725,705 bp from pter
100,738,224 bp from pter
12,520 bases
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 StructureGene Density

RefSeq DNA sequence for DLK1 Gene

Proteins for DLK1 Gene

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

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

    Protein attributes for DLK1 Gene

    383 amino acids
    Molecular mass:
    41300 Da
    Quaternary structure:
    • Monomer.
    • Sequence=CAA35582.1; Type=Frameshift; Positions=22, 108, 199; Evidence={ECO:0000305};

    Alternative splice isoforms for DLK1 Gene


neXtProt entry for DLK1 Gene

Proteomics data for DLK1 Gene at MOPED

Post-translational modifications for DLK1 Gene

  • N- and O-glycosylated. O-glycosylated with core 1 or possibly core 8 glycans.
  • Glycosylation at Ser 94, Asn 100, Thr 143, Ser 163, Asn 165, Asn 172, Ser 214, Thr 222, Ser 251, Thr 256, Ser 260, and Thr 269
  • Modification sites at PhosphoSitePlus

Other Protein References for DLK1 Gene

Antibody Products

  • R&D Systems Antibodies for DLK1 (Pref-1/DLK1/FA1)
  • Cell Signaling Technology (CST) Antibodies for DLK1 (DLK1)

No data available for DME Specific Peptides for DLK1 Gene

Domains & Families for DLK1 Gene

Suggested Antigen Peptide Sequences for DLK1 Gene

Graphical View of Domain Structure for InterPro Entry



  • Contains 6 EGF-like domains.
  • Contains 6 EGF-like domains.
genes like me logo Genes that share domains with DLK1: view

No data available for Gene Families for DLK1 Gene

Function for DLK1 Gene

Molecular function for DLK1 Gene

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
UniProtKB/Swiss-Prot Function:
May have a role in neuroendocrine differentiation.

Gene Ontology (GO) - Molecular Function for DLK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
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

miRNA for DLK1 Gene

miRTarBase miRNAs that target 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.

Subcellular locations from

Jensen Localization Image for DLK1 Gene COMPARTMENTS Subcellular localization image for DLK1 gene
Compartment Confidence
extracellular 5
plasma membrane 4
nucleus 3
cytoskeleton 2
cytosol 2
endoplasmic reticulum 1
mitochondrion 1
peroxisome 1

No data available for Gene Ontology (GO) - Cellular Components for DLK1 Gene

Pathways & Interactions for DLK1 Gene

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

SIGNOR curated interactions for DLK1 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for DLK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030154 cell differentiation IEA --
genes like me logo Genes that share ontologies with DLK1: view

Drugs & Compounds for DLK1 Gene

(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

Unigene Clusters for DLK1 Gene

Delta-like 1 homolog (Drosophila):
Representative Sequences:

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

No ASD Table

Relevant External Links for DLK1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for DLK1 Gene

mRNA expression in normal human tissues 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, PaxDb, and MOPED for DLK1 Gene

SOURCE GeneReport for Unigene cluster for DLK1 Gene Hs.533717

mRNA Expression by UniProt/SwissProt for DLK1 Gene

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.
genes like me logo Genes that share expression patterns with DLK1: view

Primer Products

No data available for Protein tissue co-expression partners 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
(Canis familiaris)
Mammalia DLK1 35
  • 90.1 (n)
  • 87.74 (a)
DLK1 36
  • 87 (a)
(Mus musculus)
Mammalia Dlk1 35
  • 87.03 (n)
  • 86.16 (a)
Dlk1 16
Dlk1 36
  • 85 (a)
(Pan troglodytes)
Mammalia DLK1 35
  • 99.22 (n)
  • 99.48 (a)
DLK1 36
  • 99 (a)
(Rattus norvegicus)
Mammalia Dlk1 35
  • 87.03 (n)
  • 85.38 (a)
(Bos Taurus)
Mammalia DLK 36
  • 83 (a)
(Monodelphis domestica)
Mammalia DLK1 36
  • 57 (a)
(Ornithorhynchus anatinus)
Mammalia DLK1 36
  • 50 (a)
(Gallus gallus)
Aves DLK1 35
  • 58.57 (n)
  • 55.65 (a)
DLK1 36
  • 52 (a)
(Anolis carolinensis)
Reptilia DLK1 36
  • 50 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia dlk1 35
  • 54.85 (n)
  • 51.95 (a)
(Danio rerio)
Actinopterygii LOC101883341 35
  • 55.9 (n)
  • 41.16 (a)
fruit fly
(Drosophila melanogaster)
Insecta wry 36
  • 7 (a)
Species with no ortholog for DLK1:
  • 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

Gene Tree for DLK1 (if available)
Gene Tree for DLK1 (if available)

Paralogs for DLK1 Gene

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

Variants for DLK1 Gene

Sequence variations from dbSNP and Humsavar for DLK1 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
rs34686110 - 100,729,022(+) CGGGC(A/T)GTGCA reference, missense
rs2273607 - 100,732,089(+) CCTGC(A/C/G)TGAGC reference, missense
rs1058009 - 100,734,523(+) GCCCA(A/G)CGGCT reference, missense
rs6575799 - 100,732,080(+) ACAAC(A/C/G)GGACC reference, missense
rs1058006 - 100,732,102(+) GGACG(A/G)TGGCC reference, missense

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

Variant ID Type Subtype PubMed ID
nsv521690 CNV Loss 19592680
esv2751158 CNV Gain 17911159
nsv525723 CNV Loss 19592680
nsv832876 CNV Loss 17160897
nsv456428 CNV Loss 19166990
nsv470668 CNV Loss 18288195
nsv1425 CNV Insertion 18451855

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)

Relevant External Links for DLK1 Gene

Human Gene Mutation Database (HGMD)

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

Disorders for DLK1 Gene

MalaCards: The human disease database

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

- elite association - COSMIC cancer census association via MalaCards
Search DLK1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for DLK1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
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 C.H. … Teisner B. (Eur. J. Biochem. 1994) 2 3 4 23 67
  2. An upstream insulator regulates DLK1 imprinting in AML. (PMID: 20089961) Khoury H. … Minden M.D. (Blood 2010) 3 23
  3. Delta-like 1 contributes to cell growth by increasing the interferon-inducible protein 16 expression in hepatocellular carcinoma. (PMID: 20214740) Yu F. … Li J. (Liver Int. 2010) 3 23
  4. Expression regulation and function of Pref-1 during adipogenesis of human mesenchymal stem cells (MSCs). (PMID: 19427405) Jing K. … Park J.I. (Biochim. Biophys. Acta 2009) 3 23
  5. Induction of Dlk1 by PTTG1 inhibits adipocyte differentiation and correlates with malignant transformation. (PMID: 19477929) Espina A.G. … Pintor-Toro J.A. (Mol. Biol. Cell 2009) 3 23

Products for DLK1 Gene

Sources for DLK1 Gene