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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	1774
Gene name	Deoxyribonuclease 1 like 1
Gene symbol	DNASE1L1
Synonyms (NCBI Gene)	DNAS1L1DNASEXDNL1LG4.8XIB
Chromosome	X
Chromosome location	Xq28
Summary	This gene encodes a deoxyribonuclease protein that shows high sequence similarity to DNase I. The encoded protein is localized to the endoplasmic reticulum and modified by N-linked glycosylation. Alternate transcriptional splice variants encoding the same

Show/Hide all (54)

miRTarBase ID	miRNA	Experiments	Reference
MIRT042294	hsa-miR-484	CLASH	23622248
MIRT942151	hsa-miR-1270	CLIP-seq
MIRT942152	hsa-miR-147	CLIP-seq
MIRT942153	hsa-miR-21	CLIP-seq
MIRT942154	hsa-miR-377	CLIP-seq
MIRT942155	hsa-miR-3911	CLIP-seq
MIRT942156	hsa-miR-4423-5p	CLIP-seq
MIRT942157	hsa-miR-4652-3p	CLIP-seq
MIRT942158	hsa-miR-4683	CLIP-seq
MIRT942159	hsa-miR-548q	CLIP-seq
MIRT942160	hsa-miR-582-3p	CLIP-seq
MIRT942161	hsa-miR-590-5p	CLIP-seq
MIRT942162	hsa-miR-620	CLIP-seq
MIRT942163	hsa-miR-644	CLIP-seq
MIRT942164	hsa-miR-1207-5p	CLIP-seq
MIRT942165	hsa-miR-127-5p	CLIP-seq
MIRT942166	hsa-miR-133a	CLIP-seq
MIRT942167	hsa-miR-133b	CLIP-seq
MIRT942168	hsa-miR-139-5p	CLIP-seq
MIRT942169	hsa-miR-1909	CLIP-seq
MIRT942170	hsa-miR-194	CLIP-seq
MIRT942153	hsa-miR-21	CLIP-seq
MIRT942171	hsa-miR-4514	CLIP-seq
MIRT942172	hsa-miR-4651	CLIP-seq
MIRT942173	hsa-miR-4692	CLIP-seq
MIRT942174	hsa-miR-4704-3p	CLIP-seq
MIRT942175	hsa-miR-4763-3p	CLIP-seq
MIRT942176	hsa-miR-4786-3p	CLIP-seq
MIRT942177	hsa-miR-513a-5p	CLIP-seq
MIRT942159	hsa-miR-548q	CLIP-seq
MIRT942178	hsa-miR-579	CLIP-seq
MIRT942160	hsa-miR-582-3p	CLIP-seq
MIRT942161	hsa-miR-590-5p	CLIP-seq
MIRT942179	hsa-miR-608	CLIP-seq
MIRT942180	hsa-miR-9	CLIP-seq
MIRT942181	hsa-miR-940	CLIP-seq
MIRT1978910	hsa-miR-1298	CLIP-seq
MIRT1978911	hsa-miR-2117	CLIP-seq
MIRT1978912	hsa-miR-3124-3p	CLIP-seq
MIRT1978913	hsa-miR-3189-3p	CLIP-seq
MIRT1978914	hsa-miR-375	CLIP-seq
MIRT1978915	hsa-miR-4264	CLIP-seq
MIRT1978916	hsa-miR-4273	CLIP-seq
MIRT1978917	hsa-miR-4667-3p	CLIP-seq
MIRT1978918	hsa-miR-4677-5p	CLIP-seq
MIRT1978919	hsa-miR-4725-5p	CLIP-seq
MIRT1978920	hsa-miR-4762-3p	CLIP-seq
MIRT1978921	hsa-miR-4797-3p	CLIP-seq
MIRT1978922	hsa-miR-504	CLIP-seq
MIRT942177	hsa-miR-513a-5p	CLIP-seq
MIRT1978923	hsa-miR-541	CLIP-seq
MIRT1978924	hsa-miR-629	CLIP-seq
MIRT1978925	hsa-miR-654-5p	CLIP-seq
MIRT942180	hsa-miR-9	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0003677	Function	DNA binding	IBA
GO:0003677	Function	DNA binding	TAS	9205125
GO:0003824	Function	Catalytic activity	IEA
GO:0004518	Function	Nuclease activity	IEA
GO:0004519	Function	Endonuclease activity	IEA
GO:0004530	Function	Deoxyribonuclease I activity	IBA
GO:0004536	Function	DNA nuclease activity	IEA
GO:0004536	Function	DNA nuclease activity	TAS	9205125
GO:0005515	Function	Protein binding	IPI	30021884, 32814053, 33961781
GO:0005576	Component	Extracellular region	TAS
GO:0005634	Component	Nucleus	IBA
GO:0005783	Component	Endoplasmic reticulum	IDA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0006259	Process	DNA metabolic process	TAS	9205125
GO:0006308	Process	DNA catabolic process	IBA
GO:0006308	Process	DNA catabolic process	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0035580	Component	Specific granule lumen	TAS

MIM	HGNC	e!Ensembl
300081	2957	ENSG00000013563

P49184

Protein name

Deoxyribonuclease-1-like 1 (EC 3.1.21.-) (DNase X) (Deoxyribonuclease I-like 1) (DNase I-like 1) (Muscle-specific DNase I-like) (XIB)

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF03372	Exo_endo_phos	22 → 265	Endonuclease/Exonuclease/phosphatase family	Domain

Tissue specificity

TISSUE SPECIFICITY: Highest levels in skeletal and cardiac muscles. Detectable in all other tissues tested except brain. {ECO:0000269|PubMed:8541839}.

Sequence

MHYPTALLFLILANGAQAFRICAFNAQRLTLAKVAREQVMDTLVRILARCDIMVLQEVVD
SSGSAIPLLLRELNRFDGSGPYSTLSSPQLGRSTYMETYVYFYRSHKTQVLSSYVYNDED
DVFAREPFVAQFSLPSNVLPSLVLVPLHTTPKAVEKELNALYDVFLEVSQHWQSKDVILL
GDFNADCASLTKKRLDKLELRTEPGFHWVIADGEDTTVRASTHCTYDRVVLHGERCRSLL
HTAAAFDFPTSFQLTEEEALNISDHYPVEVELKLSQAHSVQPLSLTVLLLLSLLSPQLCP
AA

Sequence length

302

Interactions

View interactions

	Reactome
			Neutrophil degranulation

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 Unknown Diseases (5)

Phenotype Name	Clinical Significance	Source	Evidence Score
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.
CARDIOMYOPATHIES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEFT VENTRICULAR NONCOMPACTION CARDIOMYOPATHY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (10)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	30740675		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	21436623	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	30740675		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	28726251		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28726251		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	28726251		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	35864157	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	37469269	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate carcinoma	Prostate cancer	BEFREE	28726251		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	27155841		★★★★★ ★☆☆☆☆ Found in Text Mining only

DNASE1L1 (deoxyribonuclease 1 like 1)