DLK1

Protein identityUniProt · HPA

UniProt accession

P80370

Gene

DLK1

Ensembl

ENSG00000185559

Chromosome

14

Canonical length

383 aa

Protein class

Predicted intracellular proteins, Predicted membrane proteins

Subcellular location

Golgi apparatus

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

383 residues, UniProt reviewed canonical sequence.

>P80370|DLK1
     1  MTATEALLRV LLLLLAFGHS TYGAECFPAC NPQNGFCEDD NVCRCQPGWQ GPLCDQCVTS
    61  PGCLHGLCGE PGQCICTDGW DGELCDRDVR ACSSAPCANN RTCVSLDDGL YECSCAPGYS
   121  GKDCQKKDGP CVINGSPCQH GGTCVDDEGR ASHASCLCPP GFSGNFCEIV ANSCTPNPCE
   181  NDGVCTDIGG DFRCRCPAGF IDKTCSRPVT NCASSPCQNG GTCLQHTQVS YECLCKPEFT
   241  GLTCVKKRAL SPQQVTRLPS GYGLAYRLTP GVHELPVQQP EHRILKVSMK ELNKKTPLLT
   301  EGQAICFTIL GVLTSLVVLG TVGIVFLNKC ETWVSNLRYN HMLRKKKNLL LQYNSGEDLA
   361  VNIIFPEKID MTTFSKEAGD EEI

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against DLK1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

1

Mean surface accessibility (rSASA)

0.48

Highest tissue expression

1,534 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about DLK1.

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 92 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Central precocious puberty

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.71

gnomAD pLI

0.03

gnomAD missense Z

0.58

DepMap mean gene effect

-0.15

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• cell differentiation
• negative regulation of Notch signaling pathway
• negative regulation of ossification
• negative regulation of osteoblast differentiation
• positive regulation of bone resorption
• positive regulation of osteoclast differentiation
• regulation of bone remodeling

Molecular functions

• calcium ion binding

Cellular components

• cytoplasm
• extracellular space
• membrane

Protein domainsUniProt · Pfam · InterPro

• EGF-type aspartate/asparagine hydroxylation site
• EGF-like domain
• EGF-like calcium-binding domain
• EGF-like domain

KeywordsUniProt

• Cytoplasm
• Disulfide bond
• EGF-like domain
• Glycoprotein
• Membrane
• Repeat
• Signal
• Transmembrane
• Transmembrane helix

InteractionsUniProt · HPA

Protein binding partners of DLK1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• SH3RF2