DLK1 (delta like non-canonical Notch ligand 1)

Gene Gene information from NCBI Gene database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Entrez ID 8788
Gene name Delta like non-canonical Notch ligand 1
Gene symbol DLK1
Synonyms (NCBI Gene)
DLKDLK-1Delta1FA1PREF1Pref-1ZOGpG2
Chromosome 14
Chromosome location 14q32.2
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
miRNA miRNA information provided by mirtarbase database.
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Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
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miRTarBase ID miRNA Experiments Reference
MIRT000729 hsa-miR-299-5p Review 19574400
MIRT032077 hsa-miR-15a-5p qRT-PCR;Other 20385127
MIRT938748 hsa-miR-583 CLIP-seq
MIRT938749 hsa-miR-586 CLIP-seq
MIRT1977728 hsa-miR-15a CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
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Transcription factor Regulation Reference
MSX1 Activation 18201699
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0005509 Function Calcium ion binding IEA
GO:0005515 Function Protein binding IPI 32814053
GO:0005615 Component Extracellular space IDA 7925474, 25093684
GO:0005737 Component Cytoplasm IEA
GO:0016020 Component Membrane IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
176290 2907 ENSG00000185559
Protein Protein information from UniProt database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P80370
Protein name Protein delta homolog 1 (DLK-1) (pG2) [Cleaved into: Fetal antigen 1 (FA1)]
Protein function May have a role in neuroendocrine differentiation.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00008 EGF 92 → 123 EGF-like domain Domain
PF00008 EGF 131 → 166 EGF-like domain Domain
PF00008 EGF 174 → 204 EGF-like domain Domain
PF00008 EGF 212 → 243 EGF-like domain Domain
Tissue specificity TISSUE SPECIFICITY: Found within the stromal cells in close contact to the vascular structure of placental villi, yolk sac, fetal liver, adrenal cortex and pancreas and in the beta cells of the islets of Langerhans in the adult pancreas. Found also in som
Sequence 
MTATEALLRVLLLLLAFGHSTYGAECFPACNPQNGFCEDDNVCRCQPGWQGPLCDQCVTS
PGCLHGLCGEPGQCICTDGWDGELCDRDVRACSSAPCANNRTCVSLDDGLYECSCAPGYS
GKDCQKKDGPCVINGSPCQHGGTCVDDEGRASHASCLCPPGFSGNFCEIVANSCTPNPCE
NDGVCTDIGGDFRCRCPAGFIDKTCSRPVTNCASSPCQNGGTCLQHTQVSYECLCKPEFT
GLTCVKKRALSPQQVTRLPSGYGLAYRLTPGVHELPVQQPEHRILKVSMKELNKKTPLLT
EGQAICFTILGVLTSLVVLGTVGIVFLNKCETWVSNLRYNHMLRKKKNLLLQYNSGEDLA
VNIIFPEKIDMTTFSKEAGDEEI
Sequence length 383
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Central precocious puberty Likely pathogenic rs2503643685 RCV003459812
Show/Hide Unknown Diseases (3)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
DLK1-related disorder Likely benign; Benign rs140558508, rs1802710, rs1058009, rs150016759, rs751360185, rs2036476347, rs2295660, rs2273607, rs34429112, rs13329039 RCV003919052
RCV003974667
RCV003967346
RCV003916882
RCV003977089
RCV003901384
RCV003907294
RCV003916152
RCV003920545
RCV003923084
Ovarian serous cystadenocarcinoma Likely benign rs150016759 RCV005936984
Silver-Russell syndrome 1 Uncertain significance; Benign rs762558665, rs147224004 RCV001374438
RCV001374439
Show/Hide Text Mining Associations (85)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 27829231
Adenoma Inhibit 21871428
Adrenal Cortex Diseases Associate 31265901
Adrenal Hyperplasia Congenital Associate 34616364
Adrenal Rest Tumor Associate 34616364
Adrenocortical Carcinoma Stimulate 31265901
Alzheimer Disease Associate 26721933
Anorexia Nervosa Associate 23331192
Beckwith Wiedemann Syndrome Associate 19513094
Birk Barel Mental Retardation Dysmorphism Syndrome Associate 30801013