AiPD: Autoinhibited Protein Database

P49184

Gene name	DNASE1L1 (DNAS1L1, DNL1L)
Protein name	Deoxyribonuclease-1-like 1
Names	DNase X, Deoxyribonuclease I-like 1, DNase I-like 1, Muscle-specific DNase I-like, XIB
Species	Homo sapiens (Human)
KEGG Pathway	hsa:1774
EC number
Protein Class

Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

104-179 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

104-179 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell Systems, 2, 89-100

Autoinhibited structure

Activated structure

1 structures for P49184

Entry ID	Method	Resolution	Chain	Position	Source
AF-P49184-F1	Predicted				AlphaFoldDB

170 variants for P49184

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA337283822 rs1035422822	4	P>S		No	ClinGen Ensembl
rs141794041 CA10562220	5	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs141794041 CA10562221	5	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA415175068 rs1557188274	14	N>D		No	ClinGen gnomAD
rs138580997 CA10562218	14	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs782184791 CA10562216	16	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA337283813 COSM2151276 rs1011162917	20	R>C	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA10562215 rs781926586	20	R>H		No	ClinGen ExAC TOPMed gnomAD
rs782219897 CA10562213	23	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1557188246 CA415174805	23	A>V		No	ClinGen gnomAD
CA10562212 rs782656826	25	N>S		No	ClinGen ExAC gnomAD
rs781973534 CA10562210	28	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA337283780 rs140776268	30	T>S		No	ClinGen ESP TOPMed
CA337283776 rs200634352	31	L>V		No	ClinGen gnomAD
rs144878211 CA10562208	32	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	32	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10562207 rs781836649	36	R>G		No	ClinGen ExAC gnomAD
CA10562206 rs782742803	38	Q>E		No	ClinGen ExAC gnomAD
CA10562204 rs781851548	41	D>E		No	ClinGen ExAC TOPMed gnomAD
CA415174275 rs1557188201	41	D>N		No	ClinGen gnomAD
rs782809884 CA10562203	44	V>A		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	44	V>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10562202 rs782142885	45	R>G		No	ClinGen ExAC TOPMed gnomAD
CA10562201 rs781926646	45	R>Q		No	ClinGen ExAC gnomAD
rs782142885 CA415174128	45	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA415264508 rs1557188082	46	I>M		No	ClinGen gnomAD
CA415264499 rs1324433603	48	A>V		No	ClinGen TOPMed
rs1557188075 CA415264494	49	R>C		No	ClinGen gnomAD
rs781844808 CA10562184	49	R>H		No	ClinGen ExAC gnomAD
rs781844808 CA10562183	49	R>P		No	ClinGen ExAC gnomAD
rs1197929465 CA415264489	50	C>Y		No	ClinGen TOPMed
CA10562182 rs782750958	51	D>G		No	ClinGen ExAC gnomAD
CA415264483 rs1557188065	51	D>N		No	ClinGen gnomAD
CA10562180 rs781860537	52	I>V		No	ClinGen ExAC gnomAD
rs1236324527 CA415264467	53	M>T		No	ClinGen TOPMed
CA415264453 rs1177590324	55	L>V		No	ClinGen TOPMed
CA415264428 rs1557188044	58	V>G		No	ClinGen gnomAD
CA415264418 rs1603372341	60	D>A		No	ClinGen Ensembl
TCGA novel	63	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs781998671 CA10562174	63	G>D		No	ClinGen ExAC gnomAD
rs1557188029 CA415264399	63	G>S		No	ClinGen gnomAD
TCGA novel	64	S>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs782288295 CA10562172	65	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1557188017 CA415264378	66	I>T		No	ClinGen gnomAD
rs200058172 CA10562170	67	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200058172 CA337300200	67	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs782069083 CA10562171	67	P>S		No	ClinGen 1000Genomes ExAC gnomAD
rs781912078 CA337300173	71	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs781912078 CA415264356	71	R>G		No	ClinGen gnomAD
CA10562166 rs141797285	71	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	72	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs782632206 CA10562165	74	N>S		No	ClinGen ExAC TOPMed gnomAD
rs147897069 CA10562164	75	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA10562155 rs377310204	80	G>E		No	ClinGen ESP ExAC gnomAD
rs959981012 CA337300092	81	P>H		No	ClinGen Ensembl
rs782223297 CA10562152	87	S>R		No	ClinGen ExAC gnomAD
CA415264216 rs1557187966	90	L>R		No	ClinGen gnomAD
CA10562151 rs782657741	92	R>C		No	ClinGen ExAC TOPMed gnomAD
rs782580939 CA337300091	92	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA10562148 rs782676794	95	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs782676794 CA415264188	95	Y>F		No	ClinGen ExAC TOPMed gnomAD
CA10562149 rs782676794	95	Y>S		No	ClinGen ExAC TOPMed gnomAD
CA415264185 rs1557187958	96	M>L		No	ClinGen gnomAD
CA10562147 rs144754107	98	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA415264129 rs1190917095	103	Y>C		No	ClinGen TOPMed
CA10562143 rs781858230	104	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs782518355 CA10562144	104	R>W		No	ClinGen ExAC gnomAD
rs144202041 CA10562124	109	Q>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs782579104 CA10562123	109	Q>H		No	ClinGen ExAC gnomAD
CA415264080 rs1267791238	109	Q>R		No	ClinGen TOPMed
rs1557187659 CA415264071	110	V>G		No	ClinGen gnomAD
CA415264047 rs1557187651	114	Y>C		No	ClinGen gnomAD
rs376865907 CA10562119	115	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA415264031 rs1557187643	116	Y>*		No	ClinGen gnomAD
CA415264030 rs1557187642	117	N>D		No	ClinGen gnomAD
rs1569552407 CA415264015	118	D>E		No	ClinGen Ensembl
CA415264021 rs1170447353	118	D>H		No	ClinGen TOPMed
rs781863598 CA10562117	119	E>K		No	ClinGen ExAC gnomAD
VAR_048869 CA10562114 rs34952165	122	V>I		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
TCGA novel	124	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs782095435 CA415263972	125	R>G		No	ClinGen ExAC TOPMed gnomAD
rs782095435 CA10562112	125	R>W		No	ClinGen ExAC TOPMed gnomAD
rs781956733 CA10562111	130	A>V		No	ClinGen ExAC gnomAD
CA10562110 rs782367096	134	L>S		No	ClinGen ExAC gnomAD
CA415263715 rs1557187531	143	V>L		No	ClinGen gnomAD
rs1557187520 CA415263684	146	P>L		No	ClinGen gnomAD
CA415263664 rs1557187508	149	T>A		No	ClinGen gnomAD
rs372745600 CA10562080	154	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA10562079 rs782688838	155	E>K		No	ClinGen ExAC gnomAD
COSM3379439 rs781802964 CA10562077	160	A>T	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs368820912 CA10562076	162	Y>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs1557187476 CA415263554	162	Y>H		No	ClinGen gnomAD
rs781814446 CA10562074	163	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs782112395 CA10562072	167	E>G		No	ClinGen ExAC TOPMed gnomAD
CA10562073 rs782775845	167	E>K		No	ClinGen ExAC gnomAD
CA415263513 rs782775845	167	E>Q		No	ClinGen ExAC gnomAD
CA10562071 rs6643670 CA337298915	170	Q>H		No	ClinGen ExAC gnomAD
CA415263484 rs1557187459	170	Q>R		No	ClinGen gnomAD
CA10562052 rs781811156	176	D>N		No	ClinGen ExAC gnomAD
CA415263392 rs1557187410	178	I>T		No	ClinGen gnomAD
rs782099734 CA10562050	180	L>F		No	ClinGen ExAC
CA10562049 rs781950844	186	D>N		No	ClinGen ExAC gnomAD
CA10562048 rs782781213	187	C>G		No	ClinGen ExAC gnomAD
rs782325226 CA10562045	188	A>G		No	ClinGen ExAC gnomAD
rs782017649 CA10562046	188	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1460218830 CA415263311	191	T>N		No	ClinGen TOPMed gnomAD
rs782174612 CA10562044	194	R>C		No	ClinGen ExAC TOPMed gnomAD
CA10562043 rs199865662	194	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA10562042 rs782332152	198	L>P		No	ClinGen ExAC gnomAD
CA10562041 rs367625596	199	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA415263262 rs1557187356	199	E>Q		No	ClinGen gnomAD
CA415263247 rs1469827058	201	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1557187347 CA415263243	202	T>N		No	ClinGen gnomAD
TCGA novel	203	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1557187336 CA415263227	204	P>L		No	ClinGen gnomAD
rs1175773755 CA415263232	204	P>T		No	ClinGen TOPMed gnomAD
CA415263191 rs1410215561	209	V>A		No	ClinGen TOPMed gnomAD
CA415263179 rs868947585	211	A>V		No	ClinGen Ensembl
CA415263176 rs1457884365	212	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1175562608 CA415263165	213	G>E		No	ClinGen TOPMed
TCGA novel	214	E>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10562034 rs200843535	217	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10562032 rs781857571	219	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA10562033 rs782515836	219	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	221	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA415263085 rs1557187304	225	T>I		No	ClinGen gnomAD
rs5987256 CA337298688	227	D>A		No	ClinGen TOPMed
rs5987256 CA415263073	227	D>G		No	ClinGen TOPMed
rs782791446 CA10562031	228	R>C		No	ClinGen ExAC TOPMed
CA415263067 rs1557187287	228	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs781790725 CA10562029	229	V>I		No	ClinGen ExAC TOPMed gnomAD
rs782735749 CA415263059	230	V>L		No	ClinGen ExAC gnomAD
rs782735749 CA10562028	230	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA10562027 rs782074804	232	H>Y		No	ClinGen ExAC gnomAD
rs782374192 CA10562025	235	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA10562024 rs782154480	235	R>H		No	ClinGen ExAC gnomAD
rs782331239 CA10562022	237	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA10562023 rs782023962	237	R>W		No	ClinGen ExAC TOPMed gnomAD
CA10562020 rs782626715	239	L>P		No	ClinGen ExAC gnomAD
CA10562019 rs782340452	243	A>P		No	ClinGen ExAC gnomAD
TCGA novel	244	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	250	T>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs782157533 CA337298641	250	T>M		No	ClinGen ExAC TOPMed gnomAD
rs782157533 CA10562016	250	T>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	252	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1198800756 CA415262816	256	E>K		No	ClinGen TOPMed gnomAD
TCGA novel	257	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA415262803 rs1557187214	257	E>K		No	ClinGen gnomAD
CA10562013 rs782488318	258	E>*		No	ClinGen ExAC gnomAD
CA10561995 rs781847383	262	I>L		No	ClinGen ExAC gnomAD
CA10561994 rs782668660	263	S>G		No	ClinGen ExAC gnomAD
rs782540310 CA10561993	263	S>I		No	ClinGen ExAC gnomAD
rs782719035 CA10561991	270	V>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA415262560 rs1339087563	275	S>G		No	ClinGen TOPMed
CA10561990 rs146004451	276	Q>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs781833694 CA10561989	277	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1266861547 CA415262539	278	H>Y		No	ClinGen TOPMed
CA10561986 rs148008384	280	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs148008384 CA10561987	280	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1603370933 CA415262520	281	Q>K		No	ClinGen Ensembl
CA415262483 rs1557187106	286	T>I		No	ClinGen TOPMed
CA10561985 rs782790575	286	T>S		No	ClinGen ExAC gnomAD
CA415262481 rs1557187102	287	V>L		No	ClinGen gnomAD
rs782047097 CA10561984	295	S>P		No	ClinGen ExAC gnomAD
CA415262427 rs1169433111	296	P>L		No	ClinGen TOPMed
CA10561983 rs781964455	297	Q>*		No	ClinGen ExAC gnomAD
CA10561982 rs782351883	299	C>S		No	ClinGen ExAC TOPMed gnomAD
rs369393190 CA337298429	300	P>S		No	ClinGen ESP gnomAD
rs369393190 CA415262407	300	P>T		No	ClinGen ESP gnomAD
rs1423588442 CA415262386	303	A>S		No	ClinGen TOPMed

No associated diseases with P49184

3 regional properties for P49184

Type	Name	Position	InterPro Accession
domain	Endonuclease/exonuclease/phosphatase	24 - 265	IPR005135
active_site	Deoxyribonuclease I, active site	144 - 164	IPR018057
conserved_site	Deoxyribonuclease I, conservied site	181 - 188	IPR033125

Functions

		Description
EC Number
Subcellular Localization	Endoplasmic reticulum
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

4 GO annotations of cellular component

Name	Definition
endoplasmic reticulum	The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached).
extracellular region	The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.
specific granule lumen	The volume enclosed by the membrane of a specific granule, a granule with a membranous, tubular internal structure, found primarily in mature neutrophil cells. Most are released into the extracellular fluid. Specific granules contain lactoferrin, lysozyme, vitamin B12 binding protein and elastase.

3 GO annotations of molecular function

Name	Definition
deoxyribonuclease activity	Catalysis of the hydrolysis of ester linkages within deoxyribonucleic acid.
deoxyribonuclease I activity	Catalysis of the endonucleolytic cleavage of DNA to 5'-phosphodinucleotide and 5'-phosphooligonucleotide end products.
DNA binding	Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid).

3 GO annotations of biological process

Name	Definition
DNA catabolic process	The cellular DNA metabolic process resulting in the breakdown of DNA, deoxyribonucleic acid, one of the two main types of nucleic acid, consisting of a long unbranched macromolecule formed from one or two strands of linked deoxyribonucleotides, the 3'-phosphate group of each constituent deoxyribonucleotide being joined in 3',5'-phosphodiester linkage to the 5'-hydroxyl group of the deoxyribose moiety of the next one.
DNA catabolic process, endonucleolytic	The chemical reactions and pathways resulting in the breakdown of DNA, involving the hydrolysis of internal 3',5'-phosphodiester bonds in one or two strands of deoxyribonucleotides.
DNA metabolic process	Any cellular metabolic process involving deoxyribonucleic acid. This is one of the two main types of nucleic acid, consisting of a long, unbranched macromolecule formed from one, or more commonly, two, strands of linked deoxyribonucleotides.

No homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
No homologous proteins

10	20	30	40	50	60
MHYPTALLFL	ILANGAQAFR	ICAFNAQRLT	LAKVAREQVM	DTLVRILARC	DIMVLQEVVD
70	80	90	100	110	120
SSGSAIPLLL	RELNRFDGSG	PYSTLSSPQL	GRSTYMETYV	YFYRSHKTQV	LSSYVYNDED
130	140	150	160	170	180
DVFAREPFVA	QFSLPSNVLP	SLVLVPLHTT	PKAVEKELNA	LYDVFLEVSQ	HWQSKDVILL
190	200	210	220	230	240
GDFNADCASL	TKKRLDKLEL	RTEPGFHWVI	ADGEDTTVRA	STHCTYDRVV	LHGERCRSLL
250	260	270	280	290	300
HTAAAFDFPT	SFQLTEEEAL	NISDHYPVEV	ELKLSQAHSV	QPLSLTVLLL	LSLLSPQLCP

AA