ADAMTSL1 (ADAMTS like 1)

Gene

• Entrez ID: 92949
• Gene name: ADAMTS like 1
• Gene symbol: ADAMTSL1
• Synonyms (NCBI Gene): ADAMTSL-1, ADAMTSR1, C9orf94, PUNCTIN
• 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

miRNA

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

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
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

Other IDs

• MIM: 609198
• HGNC: 14632
• e!Ensembl: 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

Pathways

Reactome:

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

Associated diseases

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ADAMTSL1-related disorder	Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANGIOEDEMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GESTATIONAL DIABETES	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROCEPHALY, FACIAL DYSMORPHISM, OCULAR ANOMALIES, MULTIPLE CONGENITAL ANOMALIES SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROCEPHALY-FACIAL DYSMORPHISM-OCULAR ANOMALIES-MULTIPLE CONGENITAL ANOMALIES SYNDROME	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-ALCOHOLIC FATTY LIVER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Orofacial cleft 1	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
PELVIC ORGAN PROLAPSE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SMALL CELL LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPORADIC AMYOTROPHIC LATERAL SCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UVEAL MELANOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Asthma	Asthma	GWASCAT_DG	25918132		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar disorder	Pubtator	39999946	Associate	★☆☆☆☆ Found in Text Mining only
Brachycephaly	Brachycephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	BEFREE	24634412		★☆☆☆☆ Found in Text Mining only
Class III malocclusion	Malocclusion	BEFREE	30714143		★☆☆☆☆ Found in Text Mining only
Class III malocclusion	Malocclusion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Hypothyroidism	Congenital Hypothyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	37779084	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	36339449	Associate	★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	29049012	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	GWASDB_DG	21532571		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	Pubtator	28722276	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma 3 Primary Congenital A	Glaucoma	Pubtator	28722276	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	GWASCAT_DG	20445134		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart failure	Heart Failure	GWASDB_DG	20445134		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hydrophthalmos	Glaucoma, congenital	BEFREE	28722276		★☆☆☆☆ Found in Text Mining only
Hydrophthalmos	Glaucoma, congenital	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macrotia	Macrotia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome	Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Migraine Disorders	Migraine	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mucopolysaccharidosis I	Mucopolysaccharidosis	Pubtator	39769211	Associate	★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	GWASCAT_DG	27182965		★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nephrolithiasis	Nephrolithiasis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	GWASDB_DG	17052657		★☆☆☆☆ Found in Text Mining only
Primary congenital glaucoma	Congenital glaucoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinal Detachment	Retinal Detachment	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rieger eye malformation sequence	Axenfeld anomaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rieger syndrome	Rieger syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	39999946	Associate	★☆☆☆☆ Found in Text Mining only
Sensorineural hearing loss, bilateral	Sensorineural hearing loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	GWASCAT_DG	28604730		★☆☆☆☆ Found in Text Mining only
Thyroid Hypoplasia	Thyroid Hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vertebrobasilar Dolichoectasia	Vertebrobasilar Dolichoectasia	HPO_DG			★☆☆☆☆ Found in Text Mining only