DLK1 - delta like non-canonical Notch ligand 1 Gene

Also Known as DLK; FA1; ZOG; pG2; DLK-1; PREF1; Delta1; Pref-1

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子ID: 8788

About DLK1

Cytogenetic location: 14q32.2 Genomic coordinates (GRCh38): 14:100,726,892-100,738,224 (from NCBI)

This gene has 5 transcripts (splice variants), 197 orthologues, 1 paralogue and is associated with 7 phenotypes. Biased expression in placenta (RPKM 382.3) and adrenal (RPKM 208.0).

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]

DLK1 Products (2)

mRNA	Protein	Name
NM_001317172.2	NP_001304101.2	protein delta homolog 1 isoform 2 preproprotein
NM_003836.7	NP_003827.4	protein delta homolog 1 isoform 1 preproprotein

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	参考文献	由来
enables protein binding	IPI IPI: Inferred from physical interaction	32814053	GOA

Biological Process GO Annotation	Evidence	参考文献	由来
involved in negative regulation of Notch signaling pathway	IDA IDA: Inferred from direct assay	25093684	GOA

Cellular Component GO Annotation	Evidence	参考文献	由来
located in extracellular space	IDA IDA: Inferred from direct assay	7925474	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

DLK1 Protein Structure

hEGF

EGF

0
100
200
300
383 a.a.

Protein Preferred Names	Protein Names
protein delta homolog 1	delta-like 1 homolog

DLK1 Protein-protein interaction Information

Type	タンパク質名	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	参考文献
Intra	DLK1	P80370	GRN	Homo sapiens	P28799-2	Y2H Pooling	32814053
Intra	DLK1	P80370	SPRED1	Homo sapiens	Q7Z699	Validated Y2H	32814053
Intra	DLK1	P80370	SPRED1	Homo sapiens	Q7Z699	Y2H Pooling	32814053
Intra	DLK1	P80370	SPRED1	Homo sapiens	Q7Z699	Y2H Array	32814053

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant DLK1 Proteins

製品番号	製品名	アクセッション番号	純度
HY-P70138	DLK-1 Protein, Human (S260N, HEK293, His)	AAH13197.1 (A24-P297, S260N)	≥ 95%, as determined by reducing SDS-PAGE.
HY-P77914	DLK-1 Protein, Human (HEK293, His)	P80370-1 (A24-Q303)	≥ 95%, as determined by Bis-Tris PAGE.
HY-P700856	DLK-1 Protein, Human (HEK293, hFc)	P80370-1 (A24-Q303)	≥ 95%, as determined by reducing SDS-PAGE.

DLK1 抗体

製品番号	製品名	アプリケーション	反応性
HY-P84442	DLK1 Antibody (YA4139)	ICC/IF, FC, ELISA	Human
HY-P84442A	DLK1 Antibody (YA4139)(PBS only)	ICC/IF, FC, ELISA	Human
HY-P85124	DLK1 Antibody (YA4816)	WB, IHC-P, IF-Tissue	Human, Mouse, Rat

関連疾患

Diseases	Alias
Temple Syndrome	Uniparental Disomy, Maternal, Chromosome 14 Temple Syndrome Due To Paternal 14q32.2 Microdeletion Paternal Del(14)(Q32.2) Temple Syndrome Due To Paternal 14q32.2 Hypomethylation Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 Upd(14)Mat
Idiopathic Central Precocious Puberty
Kagami-Ogata Syndrome	Paternal Uniparental Disomy Of Chromosome 14 Uniparental Disomy, Paternal, Chromosome 14 Kos Mca Due To 14q32.2 Maternally Expressed Gene Defect Paternal Uniparental Disomy 14 Kagami-Ogata Syndrome Due To Maternal 14q32.2 Microdeletion Maternal Del(14)(Q32.2) Maternal Monosomy 14q32.2 Kagami-Ogata Syndrome Due To Maternal 14q32.2 Hypermethylation Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 Upd(14)Pat
Central Precocious Puberty	Cpp Gonadotropin-Dependant Precocious Puberty Gonadotropin-Dependent Precocious Puberty Precocious Puberty, Central
Prader-Willi Syndrome	Prader-Labhart-Willi Syndrome PWS Willi-Prader Syndrome Prader-Willi Syndrome Due To Translocation Prader-Willi Syndrome Due To Imprinting Mutation Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 Prader Willi Syndrome Upd(15)Mat
Angelman Syndrome	AS Happy Puppet Syndrome Happy Puppet Syndrome, Formerly Puppetlike Syndrome
Myelodysplastic Syndrome	Myelodysplastic Syndromes Myelodysplasia MDS Myelodysplastic Syndrome Included Myelodysplastic Syndrome, Susceptibility To, Included Myelodysplastic Syndrome, Somatic Myelodysplastic Syndrome, Susceptibility To
Ganglioneuroblastoma
Neuroendocrine Tumor	Neuroendocrine Neoplasm Neuroendocrine Tumors Carcinoma, Neuroendocrine
Tetralogy Of Fallot	TOF Fallot Tetralogy Ventricular Septal Defect With Pulmonary Stenosis Or Atresia, Dextraposition Of Aorta, And Hypertrophy Of Right Ventricle Tetrad Of Fallot Fallot Tetrad Fallot Disease Fallot Complex Subpulmonic Stenosis, Ventricular Septal Defect, Overriding Aorta, And Right Ventricular Hypertrophy Interventricular Septal Defect With Dextroposition Of Aorta, Pulmonary Stenosis And Hypertrophy Of Right Ventricle Interventricular Septal Defect, In Tetralogy Of Fallot Ventricular Septal Defect With Obstructed Right Ventricular Outflow Tof - [Tetralogy Of Fallot] Pulmonary Atresia With Ventricular Septal Defect [Fallot Type] Pulmonary Atresia, Ventricular Septal Defect And Mapcas Pulmonary Atresia With Ventricular Septal Defect And Systemic-To-Pulmonary Collateral Arteries [Fallot Type]
Silver-Russell Syndrome 1	Silver-Russell Syndrome Russell-Silver Syndrome Silver-Russell Dwarfism Rss SRS1 Srs Silver Russell Dwarfism Russell Silver Syndrome Silver Russell Syndrome
Transient Neonatal Diabetes Mellitus	Diabetes Mellitus, Transient Neonatal Tndm Chromosome 6-Associated Transient Diabetes Mellitus Dmtn Diabetes Mellitus, 6q24-Related Transient Neonatal Tndm1 Neonatal Diabetes Mellitus, Transient Tndm -[Transient Neonatal Diabetes Mellitus]
Lung Cancer	Lung Carcinoma Non-Small Cell Lung Carcinoma Lung Cancer, Susceptibility To Lung Cancer, Protection Against Adenocarcinoma Of Lung, Somatic Adenocarcinoma Of Lung, Response To Tyrosine Kinase Inhibitor In Nonsmall Cell Lung Cancer Lung Neoplasm Carcinoma Of Lung Lung Non-Small Cell Carcinoma Non-Small Cell Lung Cancer Nsclc Lung Neoplasms Malignant Neoplasm Of Lung Alveolar Cell Carcinoma Nonsmall Cell Lung Cancer, Somatic Nonsmall Cell Lung Cancer, Response To Tyrosine Kinase Inhibitor In Nonsmall Cell Lung Cancer, Susceptibility To Lung Cancer, Somatic Lung Cancer, Resistance To Cancer Of Lung Cancer Of Bronchus Cancer Of The Lung Lung Malignancies Lung Malignant Tumors Malignant Lung Tumor Malignant Tumor Of Lung Pulmonary Cancer Pulmonary Carcinoma Pulmonary Neoplasms Respiratory Carcinoma LNCR Adenocarcinoma Of Lung Neoplasm Of Lung Cancer Lung Carcinoma Non-Small Cell Lung Carcinoma, Non-Small-Cell Lung Lung Cancers Lung Carcinomas Cancer, Lung Cancer, Lung, Non-Small Cell Primary Malignant Neoplasm Of Lung Bronchioloalveolar Adenocarcinoma
Developmental And Epileptic Encephalopathy 66	DEE66 Epileptic Encephalopathy, Early Infantile, 66 Eiee66 Developmental And Epileptic Encephalopathy, 66 Early Infantile Epileptic Encephalopathy 66 Encephalopathy, Epileptic, Early Infantile, Type 66
Spastic Paraplegia 17, Autosomal Dominant	Silver Syndrome SPG17 Silver Spastic Paraplegia Syndrome Spastic Paraplegia With Amyotrophy Of Hands And Feet Hereditary Spastic Paraplegia 17 Autosomal Dominant Spastic Paraplegia Type 17 Spastic Paraplegia 17 Spastic Paraplegia-Amyotrophy Of Hands And Feet Autosomal Dominant Spastic Paraplegia 17 Dhmn5b Distal Hereditary Motor Neuropathy Type 5b Paraplegia, Spastic, Autosomal Dominant, Type 17 Russell-Silver Syndrome Neuronopathy, Distal Hereditary Motor, Type Vb
Beckwith-Wiedemann Syndrome	Wiedemann-Beckwith Syndrome BWS Exomphalos-Macroglossia-Gigantism Syndrome Emg Syndrome Beckwith-Wiedemann Syndrome Due To Cdkn1c Mutation Emg Abnormality Wbs Exomphalos Macroglossia Gigantism Syndrome Beckwith-Wiedemann Syndrome Due To Nsd1 Mutation Macroglossia Exomphalos Gigantism
Diabetes Mellitus	Diabetes
Body Mass Index Quantitative Trait Locus 11	OBESITY Obesity, Susceptibility To Leanness, Inherited Obesity, Susceptibility To, Bmiq11 Obesity, Mild, Early-Onset Obesity, Association With Obesity, Early-Onset, Susceptibility To Obesity, Severe Obesity, Severe, And Type Ii Diabetes Obesity, Late-Onset Obesity , Susceptibility To BMIQ11 Obesity Bmiq11 Obesity, Early-Onset Simple Obesity Nos Excess Fat Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified Adiposis
Wilms Tumor 1	Nephroblastoma Wilms Tumor WT1 Wilms' Tumor Bilateral Wilms Tumor Wilms Tumor, Type 1 Wilms Tumor, Somatic Adult Nephroblastoma Wt1 Disorder Renal Embryonic Tumor Adult Kidney Wilms Tumor Childhood Kidney Wilms Tumor Nonanaplastic Kidney Wilms Tumor

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Clinical Phase
Pre-clinical Phase

Clinical Phase

阻害性抗体 (1)

製品番号	製品名	製品効果	純度	Phase
HY-P990613	LIV-1205 (CBA-1205)		98.80%	Phase 1

Pre-clinical Phase

Bioactive Molecules (3)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-RS03806	DLK1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS17535	Dlk1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS23992	Dlk1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

阻害性抗体 (2)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-P991714	Roltotatug	Inhibitor	99.332%	Unkown
HY-P992171	ADCT-701 Antibody		/	Unkown

Orthologs Information

生物種	Symbol	由来	ID
Felis catus	DLK1	VGNC	VGNC:80986
Macaca mulatta	DLK1	VGNC	VGNC:71923
Mus musculus	DLK1	MGD	MGI:94900
Bos taurus	DLK1	VGNC	VGNC:28092
Rattus norvegicus	DLK1	RGD	RGD:619931
Canis familiaris	DLK1	VGNC	VGNC:39984
Others	DLK1	NCBI