Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	28514
Gene name Gene Name - the full gene name approved by the HGNC.	Delta like canonical Notch ligand 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	DLL1
Synonyms (NCBI Gene) Gene synonyms aliases	DELTA1, DL1, Delta, NEDBAS
Disease Acronyms (UniProt) Disease acronyms from UniProt database	NEDBAS
Chromosome Chromosome number	6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	6q27
Summary Summary of gene provided in NCBI Entrez Gene.	DLL1 is a human homolog of the Notch Delta ligand and is a member of the delta/serrate/jagged family. It plays a role in mediating cell fate decisions during hematopoiesis. It may play a role in cell-to-cell communication. [provided by RefSeq, Jul 2008]

Show/Hide all(3)

SNP ID	Visualize variation	Clinical significance	Consequence
rs371262985	C>A,T	Pathogenic	Missense variant, stop gained, coding sequence variant, intron variant
rs1583151308	CT>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1583152162	G>A	Pathogenic	Intron variant, coding sequence variant, stop gained

Show/Hide all(85)

miRTarBase ID	miRNA	Experiments	Reference
MIRT001757	hsa-miR-34a-5p	Review, Luciferase reporter assay	19461653
MIRT001757	hsa-miR-34a-5p	Review, Luciferase reporter assay	19461653
MIRT004584	hsa-miR-1-3p	Review	20140609
MIRT001757	hsa-miR-34a-5p	Luciferase reporter assay	20144220
MIRT001757	hsa-miR-34a-5p	Luciferase reporter assay	14697198
MIRT017844	hsa-miR-335-5p	Microarray	18185580
MIRT001757	hsa-miR-34a-5p	Luciferase reporter assay, qRT-PCR, Western blot	23327670
MIRT001757	hsa-miR-34a-5p	Luciferase reporter assay, qRT-PCR, Western blot	23327670
MIRT001757	hsa-miR-34a-5p	Luciferase reporter assay, qRT-PCR, Western blot	23327670
MIRT001757	hsa-miR-34a-5p	Luciferase reporter assay, qRT-PCR, Western blot	23327670
MIRT731425	hsa-miR-130b-3p	Luciferase reporter assay, qRT-PCR, Western blot	28163094
MIRT731425	hsa-miR-130b-3p	Luciferase reporter assay, qRT-PCR, Western blot	28163094
MIRT736596	hsa-miR-432-5p	Luciferase reporter assay, Western blotting, Immunoprecipitaion (IP), qRT-PCR	33902591
MIRT731425	hsa-miR-130b-3p	Luciferase reporter assay, Western blotting	34976140
MIRT938758	hsa-miR-130a	CLIP-seq
MIRT938759	hsa-miR-130b	CLIP-seq
MIRT938760	hsa-miR-301a	CLIP-seq
MIRT938761	hsa-miR-301b	CLIP-seq
MIRT938762	hsa-miR-3666	CLIP-seq
MIRT938763	hsa-miR-4295	CLIP-seq
MIRT938764	hsa-miR-4438	CLIP-seq
MIRT938765	hsa-miR-454	CLIP-seq
MIRT938766	hsa-miR-4671-3p	CLIP-seq
MIRT938767	hsa-miR-891a	CLIP-seq
MIRT1977735	hsa-miR-214	CLIP-seq
MIRT1977736	hsa-miR-34a	CLIP-seq
MIRT1977737	hsa-miR-34c-5p	CLIP-seq
MIRT1977738	hsa-miR-3619-5p	CLIP-seq
MIRT1977739	hsa-miR-449a	CLIP-seq
MIRT1977740	hsa-miR-449b	CLIP-seq
MIRT1977741	hsa-miR-761	CLIP-seq
MIRT1977742	hsa-miR-922	CLIP-seq
MIRT2213024	hsa-miR-103a	CLIP-seq
MIRT2213025	hsa-miR-107	CLIP-seq
MIRT2213026	hsa-miR-1179	CLIP-seq
MIRT2213027	hsa-miR-1306	CLIP-seq
MIRT2213028	hsa-miR-1470	CLIP-seq
MIRT2213029	hsa-miR-148a	CLIP-seq
MIRT2213030	hsa-miR-148b	CLIP-seq
MIRT2213031	hsa-miR-151-5p	CLIP-seq
MIRT2213032	hsa-miR-151b	CLIP-seq
MIRT2213033	hsa-miR-152	CLIP-seq
MIRT2213034	hsa-miR-15a	CLIP-seq
MIRT2213035	hsa-miR-15b	CLIP-seq
MIRT2213036	hsa-miR-16	CLIP-seq
MIRT2213037	hsa-miR-195	CLIP-seq
MIRT1977735	hsa-miR-214	CLIP-seq
MIRT2213038	hsa-miR-2682	CLIP-seq
MIRT2213039	hsa-miR-3131	CLIP-seq
MIRT2213040	hsa-miR-3186-5p	CLIP-seq
MIRT1977736	hsa-miR-34a	CLIP-seq
MIRT1977737	hsa-miR-34c-5p	CLIP-seq
MIRT1977738	hsa-miR-3619-5p	CLIP-seq
MIRT2213041	hsa-miR-3664-3p	CLIP-seq
MIRT2213042	hsa-miR-3945	CLIP-seq
MIRT2213043	hsa-miR-424	CLIP-seq
MIRT2213044	hsa-miR-4260	CLIP-seq
MIRT2213045	hsa-miR-4269	CLIP-seq
MIRT2213046	hsa-miR-4291	CLIP-seq
MIRT2213047	hsa-miR-4310	CLIP-seq
MIRT2213048	hsa-miR-4433	CLIP-seq
MIRT938764	hsa-miR-4438	CLIP-seq
MIRT2213049	hsa-miR-4459	CLIP-seq
MIRT2213050	hsa-miR-4469	CLIP-seq
MIRT1977739	hsa-miR-449a	CLIP-seq
MIRT1977740	hsa-miR-449b	CLIP-seq
MIRT2213051	hsa-miR-449c	CLIP-seq
MIRT2213052	hsa-miR-4514	CLIP-seq
MIRT2213053	hsa-miR-4667-3p	CLIP-seq
MIRT2213054	hsa-miR-4692	CLIP-seq
MIRT2213055	hsa-miR-4742-5p	CLIP-seq
MIRT2213056	hsa-miR-4751	CLIP-seq
MIRT2213057	hsa-miR-4760-3p	CLIP-seq
MIRT2213058	hsa-miR-4768-3p	CLIP-seq
MIRT2213059	hsa-miR-486-3p	CLIP-seq
MIRT2213060	hsa-miR-497	CLIP-seq
MIRT2213061	hsa-miR-510	CLIP-seq
MIRT2213062	hsa-miR-611	CLIP-seq
MIRT1977741	hsa-miR-761	CLIP-seq
MIRT2213063	hsa-miR-888	CLIP-seq
MIRT1977742	hsa-miR-922	CLIP-seq
MIRT2516905	hsa-miR-3163	CLIP-seq
MIRT2516906	hsa-miR-340	CLIP-seq
MIRT2516907	hsa-miR-4282	CLIP-seq
MIRT2516908	hsa-miR-4699-3p	CLIP-seq

Show/Hide all(77)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001709	Process	Cell fate determination	NAS	11581320
GO:0001756	Process	Somitogenesis	ISS
GO:0001757	Process	Somite specification	IEA
GO:0001947	Process	Heart looping	ISS
GO:0002315	Process	Marginal zone B cell differentiation	ISS
GO:0003323	Process	Type B pancreatic cell development	ISS
GO:0005112	Function	Notch binding	IBA	21873635
GO:0005112	Function	Notch binding	IPI	10079256, 11006133, 11823422
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	10079256, 11823422, 15509766, 24025447, 29856955
GO:0005576	Component	Extracellular region	NAS	11823422
GO:0005886	Component	Plasma membrane	IBA	21873635
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	NAS	10079256
GO:0005912	Component	Adherens junction	ISS
GO:0007219	Process	Notch signaling pathway	IBA	21873635
GO:0007219	Process	Notch signaling pathway	IMP	19682396
GO:0007219	Process	Notch signaling pathway	ISS
GO:0007219	Process	Notch signaling pathway	NAS	10079256
GO:0007368	Process	Determination of left/right symmetry	ISS
GO:0007386	Process	Compartment pattern specification	IEA
GO:0008217	Process	Regulation of blood pressure	ISS
GO:0008284	Process	Positive regulation of cell population proliferation	ISS
GO:0008285	Process	Negative regulation of cell population proliferation	ISS
GO:0009954	Process	Proximal/distal pattern formation	ISS
GO:0014002	Process	Astrocyte development	ISS
GO:0014807	Process	Regulation of somitogenesis	ISS
GO:0016324	Component	Apical plasma membrane	ISS
GO:0021510	Process	Spinal cord development	ISS
GO:0021688	Process	Cerebellar molecular layer formation	ISS
GO:0021693	Process	Cerebellar Purkinje cell layer structural organization	ISS
GO:0030097	Process	Hemopoiesis	NAS	11581320
GO:0030154	Process	Cell differentiation	TAS	11912004
GO:0030155	Process	Regulation of cell adhesion	TAS	11912004
GO:0030857	Process	Negative regulation of epithelial cell differentiation	ISS
GO:0030957	Function	Tat protein binding	IPI	15509766
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0032693	Process	Negative regulation of interleukin-10 production	IMP	23086448
GO:0034351	Process	Negative regulation of glial cell apoptotic process	ISS
GO:0035265	Process	Organ growth	ISS
GO:0040008	Process	Regulation of growth	ISS
GO:0045121	Component	Membrane raft	ISS
GO:0045596	Process	Negative regulation of cell differentiation	ISS
GO:0045605	Process	Negative regulation of epidermal cell differentiation	ISS
GO:0045608	Process	Negative regulation of inner ear auditory receptor cell differentiation	IEA
GO:0045638	Process	Negative regulation of myeloid cell differentiation	IEA
GO:0045662	Process	Negative regulation of myoblast differentiation	ISS
GO:0045665	Process	Negative regulation of neuron differentiation	ISS
GO:0045746	Process	Negative regulation of Notch signaling pathway	IBA	21873635
GO:0045747	Process	Positive regulation of Notch signaling pathway	ISS
GO:0045807	Process	Positive regulation of endocytosis	ISS
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS
GO:0046331	Process	Lateral inhibition	ISS
GO:0048630	Process	Skeletal muscle tissue growth	ISS
GO:0048631	Process	Regulation of skeletal muscle tissue growth	ISS
GO:0048633	Process	Positive regulation of skeletal muscle tissue growth	ISS
GO:0048665	Process	Neuron fate specification	ISS
GO:0048839	Process	Inner ear development	IEA
GO:0050767	Process	Regulation of neurogenesis	ISS
GO:0051302	Process	Regulation of cell division	ISS
GO:0060041	Process	Retina development in camera-type eye	ISS
GO:0060042	Process	Retina morphogenesis in camera-type eye	ISS
GO:0060853	Process	Notch signaling pathway involved in arterial endothelial cell fate commitment	ISS
GO:0070986	Process	Left/right axis specification	IEA
GO:0072006	Process	Nephron development	ISS
GO:0072014	Process	Proximal tubule development	IEA
GO:0072070	Process	Loop of Henle development	IEA
GO:0072583	Process	Clathrin-dependent endocytosis	ISS
GO:0097009	Process	Energy homeostasis	ISS
GO:0097102	Process	Endothelial tip cell fate specification	ISS
GO:0097110	Function	Scaffold protein binding	IEA
GO:0097150	Process	Neuronal stem cell population maintenance	IEP	19682396
GO:0097150	Process	Neuronal stem cell population maintenance	ISS
GO:0098773	Process	Skin epidermis development	ISS
GO:1900746	Process	Regulation of vascular endothelial growth factor signaling pathway	ISS
GO:1903672	Process	Positive regulation of sprouting angiogenesis	ISS
GO:2000726	Process	Negative regulation of cardiac muscle cell differentiation	IEA

MIM	HGNC	e!Ensembl
606582	2908	ENSG00000198719

Protein

UniProt ID

O00548

Protein name

Delta-like protein 1 (Drosophila Delta homolog 1) (Delta1) (H-Delta-1)

Protein function

Transmembrane ligand protein of NOTCH1, NOTCH2 and NOTCH3 receptors that binds the extracellular domain (ECD) of Notch receptor in a cis and trans fashion manner (PubMed:11006133). Following transinteraction, ligand cells produce mechanical forc

PDB

4XBM

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF07657	MNNL	22 → 92	N terminus of Notch ligand	Family
PF01414	DSL	159 → 221	Delta serrate ligand	Domain
PF00008	EGF	285 → 324	EGF-like domain	Domain
PF00008	EGF	332 → 361	EGF-like domain	Domain
PF00008	EGF	370 → 399	EGF-like domain	Domain
PF00008	EGF	409 → 439	EGF-like domain	Domain
PF00008	EGF	447 → 477	EGF-like domain	Domain
PF12661	hEGF	490 → 511	Human growth factor-like EGF	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in heart and pancreas, with lower expression in brain and muscle and almost no expression in placenta, lung, liver and kidney.

Sequence

MGSRCALALAVLSALLCQVWSSGVFELKLQEFVNKKGLLGNRNCCRGGAGPPPCACRTFF
RVCLKHYQASVSPEPPCTYGSAVTPVLGVDSFSLPDGGGADSAFSNPIRFPFGFTWPGTF
SLIIEALHTDSPDDLATENPERLISRLATQRHLTVGEEWSQDLHSSGRTDLKYSYRFVCD
EHYYGEGCSVFCRPRDDAFGHFTCGERGEKVCNPGWKGPYCTEPICLPGCDEQHGFCDKP
GECKCRVGWQGRYCDECIRYPGCLHGTCQQPWQCNCQEGWGGLFCNQDLNYCTHHKPCKN
GATCTNTGQGSYTCSCRPGYTGATCELGIDECDPSPCKNGGSCTDLENSYSCTCPPGFYG
KICELSAMTCADGPCFNGGRCSDSPDGGYSCRCPVGYSGFNCEKKIDYCSSSPCSNGAKC
VDLGDAYLCRCQAGFSGRHCDDNVDDCASSPCANGGTCRDGVNDFSCTCPPGYTGRNCSA
PVSRCEHAPCHNGATCHERGHRYVCECARGYGGPNCQFLLPELPPGPAVVDLTEKLEGQG
GPFPWVAVCAGVILVLMLLLGCAAVVVCVRLRLQKHRPPADPCRGETETMNNLANCQREK
DISVSIIGATQIKNTNKKADFHGDHSADKNGFKARYPAVDYNLVQDLKGDDTAVRDAHSK
RDTKCQPQGSSGEEKGTPTTLRGGEASERKRPDSGCSTSKDTKYQSVYVISEEKDECVIA
TEV

Sequence length

723

Interactions

View interactions

	KEGG		Reactome
	Endocrine resistance Notch signaling pathway Th1 and Th2 cell differentiation Pathways in cancer Chemical carcinogenesis - receptor activation Breast cancer		Constitutive Signaling by NOTCH1 PEST Domain Mutants Constitutive Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant Constitutive Signaling by NOTCH1 HD Domain Mutants Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants NOTCH3 Activation and Transmission of Signal to the Nucleus

Show/Hide Causal Diseases (16)

Disease term	Disease name	dbSNP ID	References
Causal
Agenesis of corpus callosum	Agenesis of corpus callosum	rs754914260, rs1057519053, rs1057519056, rs1057519054, rs1057519055, rs1057519057, rs1384496494, rs1599017933
Autism	Autistic Disorder	rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699 View all (8 more)	31353024
Breast cancer	Malignant neoplasm of breast	rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158 View all (309 more)	21036696
Breast carcinoma	Breast Carcinoma	rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451 View all (71 more)	21036696
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291 View all (32 more)	31353024
Hemangioma	Hemangioma	rs121917766
Holoprosencephaly	Holoprosencephaly	rs121917878, rs121917879, rs121917880, rs1572624159, rs137853021, rs397515364, rs397515365, rs2147483647, rs121909067, rs121909070, rs199476093, rs28936675, rs104894044, rs104894045, rs104894040 View all (76 more)
Hypothyroidism	Hypothyroidism	rs869320723, rs121908862, rs121908863, rs121908865, rs121908866, rs121908867, rs121908870, rs121908871, rs121908872, rs2140110277, rs121908881, rs121908884, rs121908885, rs786205080, rs1586182912 View all (22 more)
Lobar holoprosencephaly	Lobar Holoprosencephaly	rs121909645
Marfan syndrome	Mammary Carcinoma, Human	rs137854456, rs137854457, rs267606796, rs137854458, rs137854459, rs137854460, rs137854470, rs137854471, rs267606797, rs137854461, rs137854462, rs137854463, rs869025419, rs137854464, rs137854465 View all (942 more)	21036696
Mental retardation	Intellectual Disability, MENTAL RETARDATION, AUTOSOMAL DOMINANT 40	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315 View all (1024 more)	31353024
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019 View all (280 more)
Microform holoprosencephaly	Microform holoprosencephaly	rs876661323, rs876661324, rs876661325, rs876661326, rs876661327, rs876661333
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085	31353024
Semilobar holoprosencephaly	Semilobar Holoprosencephaly	rs876661334, rs876661329, rs876661328
Tetralogy of fallot	Tetralogy of Fallot	rs28939668, rs727504412, rs864321649, rs774966208, rs876660981, rs886044220, rs1114167357, rs1569484126, rs1569484164, rs1569484122, rs1569484124, rs1569484042, rs1569484120, rs1569484299, rs1569484301, rs1569484288 View all (1 more)

Show/Hide Unknown Diseases (4)

Disease term	Disease name	References	Source
Unknown
Ambiguous genitalia	Ambiguous Genitalia		ClinVar
Asthma	Asthma		ClinVar
Brain neoplasms	Brain Neoplasms, Malignant neoplasm of brain, Benign neoplasm of brain, unspecified, Brain Tumor, Primary, Recurrent Brain Neoplasm, Primary malignant neoplasm of brain	21127729	ClinVar
Non-Syndromic Intellectual Disability	autosomal dominant non-syndromic intellectual disability		GenCC

Show/Hide Text Mining Associations (50)

Disease Name	Relationship Type	References
Associations from Text Mining
Adenocarcinoma of Lung	Associate	27196489
Adenoma	Stimulate	25487926
Adenomatous Polyposis Coli	Associate	25487926
Anemia Aplastic	Associate	37980558
Aortic Aneurysm Thoracic	Associate	23300792
Arthritis Rheumatoid	Associate	37796367
Autism Spectrum Disorder	Associate	28018572, 31353024
Barrett Esophagus	Associate	26568294
Breast Neoplasms	Associate	18681966, 31107884
Breast Neoplasms	Inhibit	36008793
Carcinoma Adenoid Cystic	Associate	36450256
Carcinoma Non Small Cell Lung	Associate	19398556
Carcinoma Pancreatic Ductal	Associate	27137215
Central Nervous System Vascular Malformations	Associate	31353024
Colorectal Neoplasms	Stimulate	25487926
COVID 19	Associate	34740309
Delayed Cranial Ossification due to CBFB Haploinsufficiency	Associate	31353024
Developmental Disabilities	Associate	31353024
Dissection Thoracic Aorta	Associate	23300792
Endometrial Neoplasms	Associate	27039384
Foot Deformities	Associate	36935482
Glioblastoma	Associate	35848447
Hand Foot and Mouth Disease	Stimulate	24939221
Hearing Loss	Associate	34519870
Holoprosencephaly	Associate	27363716
Hypoxia	Stimulate	25734817
Intellectual Disability	Associate	31353024
Kidney Diseases	Associate	35618095
Leukemia	Associate	37072664
Lung Neoplasms	Associate	36008793
Medulloblastoma	Associate	34857809
Mullerian aplasia	Associate	24608967
Muscle Hypertonia	Associate	36935482
Muscle Hypotonia	Associate	31353024
Myelodysplastic Syndromes	Associate	27571714
Neoplasms	Associate	12496248, 27039384, 27137215
Neoplasms	Inhibit	25167871, 36008793
Neuroblastoma	Associate	28525978
Osteosarcoma	Associate	28281638
Ovarian Neoplasms	Associate	37796700
Pancreatic Neoplasms	Associate	27137215
Precancerous Conditions	Associate	31107884
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	37072664
Renal Insufficiency	Associate	35618095
Rhabdomyosarcoma	Associate	24797362
Scoliosis	Associate	31353024
Seizures	Associate	31353024
Stomach Neoplasms	Associate	36071128
Urethral Neoplasms	Associate	25167871
Uterine Cervical Neoplasms	Associate	15919944, 37052265

DLL1 (delta like canonical Notch ligand 1)