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

Gene ID: 8788, updated on 29-Mar-2020

Summary

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
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

Genomic context

See DLK1 in Genome Data Viewer
Location:
14q32.2
Exon count:
5
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (100726892..100738224)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (101193202..101201467)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370668 Neighboring gene uncharacterized LOC105370669 Neighboring gene Sharpr-MPRA regulatory region 10698 Neighboring gene microRNA 2392

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

NHGRI GWAS Catalog

Description
New gene functions in megakaryopoiesis and platelet formation.
NHGRI GWA Catalog
Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
NHGRI GWA Catalog
The imprinted DLK1-MEG3 gene region on chromosome 14q32.2 alters susceptibility to type 1 diabetes.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
molecular_function ND
No biological Data available
more info
 
Process Evidence Code Pubs
cell differentiation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of Notch signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of Notch signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
protein delta homolog 1
Names
delta-like 1 homolog
fetal antigen 1
preadipocyte factor 1
secredeltin

NCBI Reference Sequences (RefSeq)

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_016863.2 RefSeqGene

    Range
    5001..16360
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001317172.2NP_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
    Related
    ENSP00000331081.6, ENST00000331224.10
  2. NM_003836.7NP_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
    Related
    ENSP00000340292.4, ENST00000341267.9

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p13 Primary Assembly

    Range
    100726892..100738224
    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.
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