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

Gene ID: 8788, updated on 14-Nov-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 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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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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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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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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