Human Gene DLK1 (ENST00000341267.9) from GENCODE V44
  Description: Homo sapiens delta like non-canonical Notch ligand 1 (DLK1), transcript variant 1, mRNA. (from RefSeq NM_003836)
RefSeq Summary (NM_003836): 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].
Gencode Transcript: ENST00000341267.9
Gencode Gene: ENSG00000185559.16
Transcript (Including UTRs)
   Position: hg38 chr14:100,726,892-100,738,224 Size: 11,333 Total Exon Count: 5 Strand: +
Coding Region
   Position: hg38 chr14:100,727,069-100,734,896 Size: 7,828 Coding Exon Count: 5 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr14:100,726,892-100,738,224)mRNA (may differ from genome)Protein (383 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=Protein delta homolog 1; Short=DLK-1; AltName: Full=pG2; Contains: RecName: Full=Fetal antigen 1; Short=FA1; Flags: Precursor;
FUNCTION: May have a role in neuroendocrine differentiation.
SUBUNIT: Monomer.
SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
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.
PTM: N- and O-glycosylated. O-glycosylated with core 1 or possibly core 8 glycans.
SIMILARITY: Contains 6 EGF-like domains.
SEQUENCE CAUTION: Sequence=CAA35582.1; Type=Frameshift; Positions=22, 108, 199;

-  Primer design for this transcript

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3

-  MalaCards Disease Associations
  MalaCards Gene Search: DLK1
Diseases sorted by gene-association score: idiopathic central precocious puberty* (14), paternal 14q32.2 microdeletion syndrome* (14), maternal 14q32.2 microdeletion syndrome* (14), maternal 14q32.2 hypermethylation syndrome* (14), paternal 14q32.2 hypomethylation syndrome* (14), kagami-ogata syndrome* (12), temple syndrome* (12), angiomatosis (8), bladder diverticulum (7), silver-russell syndrome (3), obesity (3), myelodysplastic syndrome (2)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 860.04 RPKM in Adrenal Gland
Total median expression: 1644.88 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -79.30177-0.448 Picture PostScript Text
3' UTR -889.003328-0.267 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000742 - EG-like_dom
IPR013032 - EGF-like_CS
IPR000152 - EGF-type_Asp/Asn_hydroxyl_site

Pfam Domains:
PF00008 - EGF-like domain
PF12661 - Human growth factor-like EGF

ModBase Predicted Comparative 3D Structure on P80370
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
Protein SequenceProtein Sequence    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003674 molecular_function
GO:0005509 calcium ion binding

Biological Process:
GO:0030154 cell differentiation
GO:0045746 negative regulation of Notch signaling pathway

Cellular Component:
GO:0005615 extracellular space
GO:0016020 membrane
GO:0016021 integral component of membrane

-  Descriptions from all associated GenBank mRNAs
  AK313258 - Homo sapiens cDNA, FLJ93765, highly similar to Homo sapiens delta-like 1 homolog (Drosophila) (DLK1), mRNA.
AK289384 - Homo sapiens cDNA FLJ78166 complete cds, highly similar to Homo sapiens delta-like 1 homolog (Drosophila), mRNA.
AK297918 - Homo sapiens cDNA FLJ57405 complete cds, highly similar to Delta-like protein precursor.
BC007741 - Homo sapiens delta-like 1 homolog (Drosophila), mRNA (cDNA clone MGC:12806 IMAGE:4128269), complete cds.
BC014015 - Homo sapiens delta-like 1 homolog (Drosophila), mRNA (cDNA clone MGC:20310 IMAGE:4130556), complete cds.
U15979 - Human (dlk) mRNA, complete cds.
U15981 - Human (dlk) mRNA, alternatively spliced, complete cds.
X17544 - Human adrenal specific mRNA, pG2.
BC013197 - Homo sapiens delta-like 1 homolog (Drosophila), mRNA (cDNA clone MGC:17291 IMAGE:4347187), complete cds.
JD405581 - Sequence 386605 from Patent EP1572962.
CU675787 - Synthetic construct Homo sapiens gateway clone IMAGE:100017145 5' read DLK1 mRNA.
HQ447684 - Synthetic construct Homo sapiens clone IMAGE:100071703; CCSB004930_01 delta-like 1 homolog (Drosophila) (DLK1) gene, encodes complete protein.
KJ897906 - Synthetic construct Homo sapiens clone ccsbBroadEn_07300 DLK1 gene, encodes complete protein.
DQ017081 - Homo sapiens secredeltin (DLK1) mRNA, complete cds, alternatively spliced.
DQ126100 - Homo sapiens brevideltin (DLK1) mRNA, complete cds, alternatively spliced.
DQ138965 - Homo sapiens truncated brevideltinin (DLK1) mRNA, complete cds, alternatively spliced.
Z12172 - H.sapiens dlk mRNA for putative homeotic protein.
DQ309460 - Homo sapiens delta-like 1 (DLK1) mRNA, partial cds.
JD560293 - Sequence 541317 from Patent EP1572962.
DQ580675 - Homo sapiens piRNA piR-48787, complete sequence.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P80370 (Reactome details) participates in the following event(s):

R-HSA-1980130 NOTCH1 binds DLK1
R-HSA-2122948 Activated NOTCH1 Transmits Signal to the Nucleus
R-HSA-1980143 Signaling by NOTCH1
R-HSA-157118 Signaling by NOTCH
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: DLK, DLK1_HUMAN, ENST00000341267.1, ENST00000341267.2, ENST00000341267.3, ENST00000341267.4, ENST00000341267.5, ENST00000341267.6, ENST00000341267.7, ENST00000341267.8, NM_003836, P15803, P80370, Q96DW5, uc001yhs.1, uc001yhs.2, uc001yhs.3, uc001yhs.4, uc001yhs.5, uc001yhs.6
UCSC ID: ENST00000341267.9
RefSeq Accession: NM_003836
Protein: P80370 (aka DLK1_HUMAN)
CCDS: CCDS9963.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.