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.
11
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide all (11)
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
Show/Hide all (1)
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.
11
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide all (11)
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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
15
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Central precocious puberty Likely pathogenic rs2503643685 RCV003459812
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (14)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ATTENTION DEFICIT HYPERACTIVITY DISORDER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CLONAL HEMATOPOIESIS — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DLK1-related disorder Likely benign; Benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HODGKINS LYMPHOMA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (160)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute monocytic leukemia Monocytic Leukemia BEFREE 20089961
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute Promyelocytic Leukemia Promyelocytic Leukemia BEFREE 22522792
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 24317514, 27829231
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 29520884, 31265901
★★★★★
★☆☆☆☆
Found in Text Mining only
Adrenal Hyperplasia Congenital Congenital adrenal hyperplasia Pubtator 34616364 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Adrenocortical carcinoma Adrenocortical carcinoma BEFREE 22266195, 31265901
★★★★★
★☆☆☆☆
Found in Text Mining only
Adrenocortical Carcinoma Adrenocortical carcinoma Pubtator 31265901 Stimulate
★★★★★
★☆☆☆☆
Found in Text Mining only
Alveolar rhabdomyosarcoma Alveolar Rhabdomyosarcoma BEFREE 24173021
★★★★★
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 26721933 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Anorexia Nervosa Anorexia nervosa Pubtator 23331192 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only