Delta Like 1 Homolog (dLK1)

FA1; PREF1; Pref-1; ZOG; pG2; Protein delta homolog 1; Fetal antigen 1

SPN	M949
HGNC	2907
MGI	94900
PubMed	22387999
RGD	619931
UniProt	P80370
Wiki	DLK1

DLK1 encodes a transmembrane protein containing six epidermal growth factor repeats. The protein is involved in the differentiation of several cell types, including adipocytes; it is also thought to be a tumor suppressor. It is one of several imprinted genes located in a region of on chr 14q32. Certain mutations in this imprinted region can cause phenotypes similar to maternal and paternal uniparental disomy of chromosome 14 (UPD14). This gene is expressed from the paternal allele. A polymorphism within this gene has been associated with child and adolescent obesity. The mode of inheritance for this polymorphism is polar overdominance; this non-Mendelian inheritance pattern was first described in sheep with the callipyge phenotype, which is characterized by muscle hypertrophy and decreased fat mass.

Reference

"dlk, a putative mammalian homeotic gene differentially expressed in small cell lung carcinoma and neuroendocrine tumor cell line."
J. Biol. Chem. 268:3817-3820(1993) [PubMed] [Europe PMC] [Abstract]

"dlk, pG2 and Pref-1 mRNAs encode similar proteins belonging to the EGF-like superfamily. Identification of polymorphic variants of this RNA."
Biochim. Biophys. Acta 1261:223-232(1995) [PubMed] [Europe PMC] [Abstract]

"The sequence of an adrenal specific human cDNA, pG2."
Nucleic Acids Res. 18:685-685(1990) [PubMed] [Europe PMC] [Abstract]

"The DNA sequence and analysis of human chromosome 14."
Nature 421:601-607(2003) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"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."
Eur. J. Biochem. 225:83-92(1994) [PubMed] [Europe PMC] [Abstract]

"Studies on the isolation, structural analysis and tissue localization of fetal antigen 1 and its relation to a human adrenal-specific cDNA, pG2."
Hum. Reprod. 8:635-641(1993) [PubMed] [Europe PMC] [Abstract]

"Signal peptide prediction based on analysis of experimentally verified cleavage sites."
Protein Sci. 13:2819-2824(2004) [PubMed] [Europe PMC] [Abstract]

"Human urinary glycoproteomics; attachment site specific analysis of N-and O-linked glycosylations by CID and ECD."
Mol. Cell. Proteomics 0:0-0(2011) [PubMed] [Europe PMC] [Abstract]