DLK1

Gene Information
 
Gene Symbol
DLK1
 
Aliases
DLK, DLK-1, Delta1, FA1, PREF1, Pref-1, ZOG, pG2
 
Entrez Gene ID
 
Gene Name
Delta like non-canonical Notch ligand 1
 
Chromosomal Location
14q32.2
 
HGNC ID
 
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]
 
RefSeq DNA
 
RefSeq mRNA
  e!Ensembl
Gene
Transcript  
Protein

Gene Ontology (GO)

GO ID Ontology Function Evidence Reference
GO:0045746 Biological process Negative regulation of Notch signaling pathway IBA 21873635
GO:0045746 Biological process Negative regulation of Notch signaling pathway IDA 25093684
GO:0005615 Cellular component Extracellular space IDA 7925474, 25093684
GO:0016020 Cellular component Membrane IBA 21873635
Protein Information
 
Protein Name
Protein delta homolog 1, delta-like 1 homolog, fetal antigen 1, preadipocyte factor 1, secredeltin
 
Function
May have a role in neuroendocrine differentiation
 
Refseq Proteins
 
UniProt
     
References
 
 
PubMed ID Disease SNP/Mutation Study population Ethnicity Age of study population Type of sample
Central Precocious Puberty (CPP) 
 
female:4, male:2 
Afro-descendant Brazilian family 
feamle:6.4 to 8 years 
Blood
Central Precocious Puberty (CPP) 
 
Total patient- 173 (9 males and 164 females; 9 familial and 164 sporadic) with ICPP, Total patients- 43 (9 males and 34 females; 3 familial and 40 sporadic) with early puberty 
Chinese 
CPP-boys:8.5 (7.8 ± 8.9),girls-7.4 (2.4 ± 7.9). early puberty-boys 9.4 (9.1 ± 9.9) girls-8.2 (8.1 ± 8.8) 
Blood

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