DLK1

GENE INFORMATION

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Gene name

DLK1 (HGNC Symbol)

Synonyms

Delta1, FA1, pG2, Pref-1, ZOG

Description

Delta-like 1 homolog (Drosophila) (HGNC Symbol)

Entrez gene summary

This gene 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. [provided by RefSeq, Mar 2010]

Chromosome

14

Cytoband

q32.2

Chromosome location (bp)

100725705 - 100738224

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000185559 (version 78.38)

Entrez gene

8788

UniProt

P80370 (UniProt - Evidence at protein level)

neXtProt

NX_P80370

Antibodypedia

DLK1 antibodies
 

PROTEIN VIEW

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DLK1-001
 
DLK1-003
 
DLK1-007
 
DLK1-009
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

DLK1-001 ENSP00000340292
ENST00000341267
P80370
Show all »
Show » Show » 383 41.3 Yes 1
DLK1-003 ENSP00000331081
ENST00000331224
P80370
Show all »
Show » Show » 310 33.1 Yes 1
DLK1-007 ENSP00000376589
ENST00000392848
G3XAH5
Show all »
Show » Show » 97 10.3 Yes 0
DLK1-009 ENSP00000450821
ENST00000556051
G3V2R7
Show all »
Show » Show » 136 14.5 Yes 0