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

Gene Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	92949
Gene name Gene Name - the full gene name approved by the HGNC.	ADAMTS like 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	ADAMTSL1
Synonyms (NCBI Gene) Gene synonyms aliases	ADAMTSL-1, ADAMTSR1, C9orf94, PUNCTIN
Chromosome Chromosome number	9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	9p22.2-p22.1
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a secreted protein and member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) family. This protein lacks the metalloproteinase and disintegrin-like domains, which are typical of the ADAMTS family, but contai

Show/Hide all(109)

miRTarBase ID	miRNA	Experiments	Reference
MIRT021814	hsa-miR-132-3p	Microarray	17612493
MIRT050243	hsa-miR-25-3p	CLASH	23622248
MIRT766834	hsa-miR-2355-5p	CLIP-seq
MIRT766835	hsa-miR-3122	CLIP-seq
MIRT766836	hsa-miR-3132	CLIP-seq
MIRT766837	hsa-miR-3672	CLIP-seq
MIRT766838	hsa-miR-3679-3p	CLIP-seq
MIRT766839	hsa-miR-3913-5p	CLIP-seq
MIRT766840	hsa-miR-4286	CLIP-seq
MIRT766841	hsa-miR-4435	CLIP-seq
MIRT766842	hsa-miR-4446-5p	CLIP-seq
MIRT766843	hsa-miR-4451	CLIP-seq
MIRT766844	hsa-miR-4464	CLIP-seq
MIRT766845	hsa-miR-4726-3p	CLIP-seq
MIRT766846	hsa-miR-4748	CLIP-seq
MIRT766847	hsa-miR-4786-5p	CLIP-seq
MIRT766848	hsa-miR-769-5p	CLIP-seq
MIRT1925898	hsa-miR-499a-5p	CLIP-seq
MIRT1925899	hsa-miR-649	CLIP-seq
MIRT2167275	hsa-miR-4530	CLIP-seq
MIRT2167276	hsa-miR-4662a-5p	CLIP-seq
MIRT2167277	hsa-miR-4676-5p	CLIP-seq
MIRT2167278	hsa-miR-575	CLIP-seq
MIRT2383916	hsa-miR-219-1-3p	CLIP-seq
MIRT2383917	hsa-miR-3907	CLIP-seq
MIRT2383918	hsa-miR-4663	CLIP-seq
MIRT2383919	hsa-miR-4682	CLIP-seq
MIRT2383920	hsa-miR-4684-3p	CLIP-seq
MIRT2383921	hsa-miR-571	CLIP-seq
MIRT2469885	hsa-miR-1267	CLIP-seq
MIRT2469886	hsa-miR-128	CLIP-seq
MIRT2469887	hsa-miR-1291	CLIP-seq
MIRT2469888	hsa-miR-15a	CLIP-seq
MIRT2469889	hsa-miR-15b	CLIP-seq
MIRT2469890	hsa-miR-16	CLIP-seq
MIRT2469891	hsa-miR-195	CLIP-seq
MIRT2469892	hsa-miR-2114	CLIP-seq
MIRT2469893	hsa-miR-214	CLIP-seq
MIRT2469894	hsa-miR-3121-3p	CLIP-seq
MIRT2469895	hsa-miR-3128	CLIP-seq
MIRT2469896	hsa-miR-3135b	CLIP-seq
MIRT2469897	hsa-miR-3161	CLIP-seq
MIRT2469898	hsa-miR-3194-3p	CLIP-seq
MIRT2469899	hsa-miR-326	CLIP-seq
MIRT2469900	hsa-miR-328	CLIP-seq
MIRT2469901	hsa-miR-330-5p	CLIP-seq
MIRT2469902	hsa-miR-3605-5p	CLIP-seq
MIRT2469903	hsa-miR-3619-5p	CLIP-seq
MIRT2469904	hsa-miR-383	CLIP-seq
MIRT2469905	hsa-miR-3921	CLIP-seq
MIRT2469906	hsa-miR-3940-5p	CLIP-seq
MIRT2469907	hsa-miR-424	CLIP-seq
MIRT2469908	hsa-miR-4265	CLIP-seq
MIRT2469909	hsa-miR-4292	CLIP-seq
MIRT2469910	hsa-miR-4296	CLIP-seq
MIRT2469911	hsa-miR-4303	CLIP-seq
MIRT2469912	hsa-miR-4308	CLIP-seq
MIRT2469913	hsa-miR-4322	CLIP-seq
MIRT2469914	hsa-miR-4327	CLIP-seq
MIRT2469915	hsa-miR-4417	CLIP-seq
MIRT2469916	hsa-miR-4487	CLIP-seq
MIRT2469917	hsa-miR-4495	CLIP-seq
MIRT2469918	hsa-miR-4496	CLIP-seq
MIRT2469919	hsa-miR-4506	CLIP-seq
MIRT2469920	hsa-miR-4507	CLIP-seq
MIRT2469921	hsa-miR-450b-3p	CLIP-seq
MIRT2469922	hsa-miR-4633-3p	CLIP-seq
MIRT2469923	hsa-miR-4653-5p	CLIP-seq
MIRT2469924	hsa-miR-4713-3p	CLIP-seq
MIRT2469925	hsa-miR-4720-5p	CLIP-seq
MIRT766847	hsa-miR-4786-5p	CLIP-seq
MIRT2469926	hsa-miR-4799-3p	CLIP-seq
MIRT2469927	hsa-miR-4802-3p	CLIP-seq
MIRT2469928	hsa-miR-497	CLIP-seq
MIRT2469929	hsa-miR-545	CLIP-seq
MIRT2469930	hsa-miR-569	CLIP-seq
MIRT2469931	hsa-miR-638	CLIP-seq
MIRT2469932	hsa-miR-651	CLIP-seq
MIRT2469933	hsa-miR-662	CLIP-seq
MIRT2469934	hsa-miR-760	CLIP-seq
MIRT2469935	hsa-miR-761	CLIP-seq
MIRT2469936	hsa-miR-769-3p	CLIP-seq
MIRT766848	hsa-miR-769-5p	CLIP-seq
MIRT2469885	hsa-miR-1267	CLIP-seq
MIRT2469893	hsa-miR-214	CLIP-seq
MIRT2469894	hsa-miR-3121-3p	CLIP-seq
MIRT2469896	hsa-miR-3135b	CLIP-seq
MIRT2469898	hsa-miR-3194-3p	CLIP-seq
MIRT2469902	hsa-miR-3605-5p	CLIP-seq
MIRT2469903	hsa-miR-3619-5p	CLIP-seq
MIRT2469905	hsa-miR-3921	CLIP-seq
MIRT2469908	hsa-miR-4265	CLIP-seq
MIRT2469910	hsa-miR-4296	CLIP-seq
MIRT2469911	hsa-miR-4303	CLIP-seq
MIRT2469913	hsa-miR-4322	CLIP-seq
MIRT2469914	hsa-miR-4327	CLIP-seq
MIRT2469915	hsa-miR-4417	CLIP-seq
MIRT2469916	hsa-miR-4487	CLIP-seq
MIRT2469917	hsa-miR-4495	CLIP-seq
MIRT2469918	hsa-miR-4496	CLIP-seq
MIRT2469922	hsa-miR-4633-3p	CLIP-seq
MIRT2469923	hsa-miR-4653-5p	CLIP-seq
MIRT766847	hsa-miR-4786-5p	CLIP-seq
MIRT2469927	hsa-miR-4802-3p	CLIP-seq
MIRT2469932	hsa-miR-651	CLIP-seq
MIRT2469933	hsa-miR-662	CLIP-seq
MIRT2469934	hsa-miR-760	CLIP-seq
MIRT2469935	hsa-miR-761	CLIP-seq
MIRT766848	hsa-miR-769-5p	CLIP-seq

Show/Hide all(5)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004222	Function	Metalloendopeptidase activity	IBA	21873635
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0006508	Process	Proteolysis	IEA
GO:0030198	Process	Extracellular matrix organization	IBA	21873635
GO:0031012	Component	Extracellular matrix	IBA	21873635

MIM	HGNC	e!Ensembl
609198	14632	ENSG00000178031

Protein

UniProt ID

Q8N6G6

Protein name

ADAMTS-like protein 1 (ADAMTSL-1) (Punctin-1)

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00090	TSP_1	37 → 81	Thrombospondin type 1 domain	Domain
PF19030	TSP1_ADAMTS	301 → 359		Domain
PF19030	TSP1_ADAMTS	380 → 437		Domain
PF19030	TSP1_ADAMTS	440 → 492		Domain
PF19030	TSP1_ADAMTS	526 → 583		Domain
PF19030	TSP1_ADAMTS	611 → 666		Domain
PF19030	TSP1_ADAMTS	670 → 728		Domain
PF19030	TSP1_ADAMTS	732 → 788		Domain
PF19030	TSP1_ADAMTS	792 → 849		Domain
PF13927	Ig_3	887 → 950		Domain
PF07679	I-set	1180 → 1267	Immunoglobulin I-set domain	Domain
PF13927	Ig_3	1285 → 1357		Domain
PF07679	I-set	1395 → 1486	Immunoglobulin I-set domain	Domain
PF19030	TSP1_ADAMTS	1549 → 1607		Domain
PF19030	TSP1_ADAMTS	1610 → 1666		Domain
PF19030	TSP1_ADAMTS	1670 → 1725		Domain
PF08686	PLAC	1730 → 1760	PLAC (protease and lacunin) domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed primarily in adult skeletal muscle. {ECO:0000269|PubMed:11805097}.

Sequence

MECCRRATPGTLLLFLAFLLLSSRTARSEEDRDGLWDAWGPWSECSRTCGGGASYSLRRC
LSSKSCEGRNIRYRTCSNVDCPPEAGDFRAQQCSAHNDVKHHGQFYEWLPVSNDPDNPCS
LKCQAKGTTLVVELAPKVLDGTRCYTESLDMCISGLCQIVGCDHQLGSTVKEDNCGVCNG
DGSTCRLVRGQYKSQLSATKSDDTVVAIPYGSRHIRLVLKGPDHLYLETKTLQGTKGENS
LSSTGTFLVDNSSVDFQKFPDKEILRMAGPLTADFIVKIRNSGSADSTVQFIFYQPIIHR
WRETDFFPCSATCGGGYQLTSAECYDLRSNRVVADQYCHYYPENIKPKPKLQECNLDPCP
ASDGYKQIMPYDLYHPLPRWEATPWTACSSSCGGGIQSRAVSCVEEDIQGHVTSVEEWKC
MYTPKMPIAQPCNIFDCPKWLAQEWSPCTVTCGQGLRYRVVLCIDHRGMHTGGCSPKTKP
HIKEECIVPTPCYKPKEKLPVEAKLPWFKQAQELEEGAAVSEEPSFIPEAWSACTVTCGV
GTQVRIVRCQVLLSFSQSVADLPIDECEGPKPASQRACYAGPCSGEIPEFNPDETDGLFG
GLQDFDELYDWEYEGFTKCSESCGGGVQEAVVSCLNKQTREPAEENLCVTSRRPPQLLKS
CNLDPCPARWEIGKWSPCSLTCGVGLQTRDVFCSHLLSREMNETVILADELCRQPKPSTV
QACNRFNCPPAWYPAQWQPCSRTCGGGVQKREVLCKQRMADGSFLELPETFCSASKPACQ
QACKKDDCPSEWLLSDWTECSTSCGEGTQTRSAICRKMLKTGLSTVVNSTLCPPLPFSSS
IRPCMLATCARPGRPSTKHSPHIAAARKVYIQTRRQRKLHFVVGGFAYLLPKTAVVLRCP
ARRVRKPLITWEKDGQHLISSTHVTVAPFGYLKIHRLKPSDAGVYTCSAGPAREHFVIKL
IGGNRKLVARPLSPRSEEEVLAGRKGGPKEALQTHKHQNGIFSNGSKAEKRGLAANPGSR
YDDLVSRLLEQGGWPGELLASWEAQDSAERNTTSEEDPGAEQVLLHLPFTMVTEQRRLDD
ILGNLSQQPEELRDLYSKHLVAQLAQEIFRSHLEHQDTLLKPSERRTSPVTLSPHKHVSG
FSSSLRTSSTGDAGGGSRRPHRKPTILRKISAAQQLSASEVVTHLGQTVALASGTLSVLL
HCEAIGHPRPTISWARNGEEVQFSDRILLQPDDSLQILAPVEADVGFYTCNATNALGYDS
VSIAVTLAGKPLVKTSRMTVINTEKPAVTVDIGSTIKTVQGVNVTINCQVAGVPEAEVTW
FRNKSKLGSPHHLHEGSLLLTNVSSSDQGLYSCRAANLHGELTESTQLLILDPPQVPTQL
EDIRALLAATGPNLPSVLTSPLGTQLVLDPGNSALLGCPIKGHPVPNITWFHGGQPIVTA
TGLTHHILAAGQILQVANLSGGSQGEFSCLAQNEAGVLMQKASLVIQDYWWSVDRLATCS
ASCGNRGVQQPRLRCLLNSTEVNPAHCAGKVRPAVQPIACNRRDCPSRWMVTSWSACTRS
CGGGVQTRRVTCQKLKASGISTPVSNDMCTQVAKRPVDTQACNQQLCVEWAFSSWGQCNG
PCIGPHLAVQHRQVFCQTRDGITLPSEQCSALPRPVSTQNCWSEACSVHWRVSLWTLCTA
TCGNYGFQSRRVECVHARTNKAVPEHLCSWGPRPANWQRCNITPCENMECRDTTRYCEKV
KQLKLCQLSQFKSRCCGTCGKA

Sequence length

1762

Interactions

View interactions

	Reactome
			Defective B3GALTL causes Peters-plus syndrome (PpS) O-glycosylation of TSR domain-containing proteins

Show/Hide Causal Diseases (10)

Disease term	Disease name	dbSNP ID	References
Causal
Axenfeld anomaly	Rieger eye malformation sequence	rs104893857, rs1560590094, rs104893858, rs1198152064, rs104893859, rs104893860, rs121909249, rs104893862, rs104893957, rs104893951, rs104893952, rs104893953, rs121909339, rs387906810, rs372857241 View all (33 more)
Congenital glaucoma	Primary congenital glaucoma	rs28936700, rs28936701, rs55989760, rs72549389, rs72549387, rs104893629, rs587778873, rs587778875, rs766425037, rs72549380, rs148542782, rs893198212, rs749073455, rs377049098, rs771076928, rs56010818, rs777678299, rs72549376 View all (3 more)
Congenital hypothyroidism	Congenital Hypothyroidism	rs121909180, rs121912646, rs121912648, rs1587178555, rs530719719, rs189261858, rs567500345, rs560702757, rs374620255, rs774517670
Glaucoma	Glaucoma	rs121918355, rs1566660365, rs1566635134, rs121918356, rs1566634475, rs28936700, rs55771538, rs28936701, rs104893622, rs55989760, rs72549387, rs104893628, rs2125316417, rs104893629, rs74315328 View all (29 more)	21532571
Lung carcinoma	Small cell carcinoma of lung	rs1805076, rs121909071, rs121913530, rs112445441, rs121913529, rs121913535, rs121913297, rs121913279, rs104886003, rs397516975, rs11554290, rs121913364, rs121913351, rs121913369, rs121913355 View all (44 more)	28604730
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019 View all (280 more)
Migraine	Migraine Disorders	rs794727411
Myopia	Myopia	rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805 View all (6 more)	27182965
Parkinson disease	Parkinson Disease	rs33939927, rs35801418, rs34805604, rs35870237, rs34995376, rs74315355, rs28940284, rs74315356, rs74315357, rs28940285, rs730880302, rs750664040, rs74315359, rs74315360, rs45539432 View all (84 more)	17052657
Retinal detachment	Retinal Detachment	rs1555976049, rs1592230091

Show/Hide Unknown Diseases (10)

Disease term	Disease name	Evidence	References	Source
Unknown
Asthma	Asthma		25918132	ClinVar
Heart failure	Heart failure		20445134	ClinVar
Multiple Sclerosis	Multiple Sclerosis			GWAS
Heart Failure	Heart Failure			GWAS
Prostate cancer	Prostate cancer	Together, these results show that PRRX2 is an oncogene and might play a role in the aggressiveness of PC within the DNPC population.		GWAS, CBGDA
Pelvic Organ Prolapse	Pelvic Organ Prolapse			GWAS
Uveal Melanoma	Uveal Melanoma	Furthermore, knocking-down GPS2 promoted the proliferation and metastatic abilities of UM cells both in vivo and in vitro.		GWAS, CBGDA
Psoriasis	Psoriasis			GWAS
Oligodendroglioma	Oligodendroglioma			GWAS
Renal Carcinoma	Renal Carcinoma			GWAS

Show/Hide Text Mining Associations (9)

Disease Name	Relationship Type	References
Associations from Text Mining
Bipolar Disorder	Associate	39999946
Diabetes Gestational	Associate	37779084
Diabetes Mellitus Type 2	Associate	36339449
Down Syndrome	Associate	29049012
Glaucoma	Associate	28722276
Glaucoma 3 Primary Congenital A	Associate	28722276
Mucopolysaccharidosis I	Associate	39769211
Primary Ovarian Insufficiency	Associate	33109206
Schizophrenia	Associate	39999946

ADAMTSL1 (ADAMTS like 1)