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	92949
Gene name	ADAMTS like 1
Gene symbol	ADAMTSL1
Synonyms (NCBI Gene)	ADAMTSL-1ADAMTSR1C9orf94PUNCTIN
Chromosome	9
Chromosome location	9p22.2-p22.1
Summary	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

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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 (4)

GO ID	Ontology	Definition	Evidence
GO:0005576	Component	Extracellular region	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0016787	Function	Hydrolase activity	IEA
GO:0030198	Process	Extracellular matrix organization	IEA

MIM	HGNC	e!Ensembl
609198	14632	ENSG00000178031

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 Unknown Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
ADAMTSL1-related disorder	Uncertain significance; Likely benign	rs142112150, rs141659739, rs756681951, rs967099976, rs570893519, rs749925109, rs146511703, rs192971740, rs113130831, rs200963194	RCV003936636 RCV003928900 RCV003936693 RCV003414154 RCV003898927 RCV003894163 RCV003941590 RCV003922023 RCV003957296 RCV003966940
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	rs200086377	RCV004558118
Orofacial cleft 1	Uncertain significance	rs190050504	RCV003321464
Uterine corpus endometrial carcinoma	Benign	rs116801223	RCV005906199

Show/Hide Text Mining Associations (9)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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)