ADAMTSL3 (ADAMTS like 3)

Gene

• Entrez ID: 57188
• Gene name: ADAMTS like 3
• Gene symbol: ADAMTSL3
• Synonyms (NCBI Gene): ADAMTSL-3
• Chromosome: 15
• Chromosome location: 15q25.2

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT766860	hsa-miR-101	CLIP-seq
MIRT766861	hsa-miR-1272	CLIP-seq
MIRT766862	hsa-miR-144	CLIP-seq
MIRT766863	hsa-miR-199a-3p	CLIP-seq
MIRT766864	hsa-miR-199b-3p	CLIP-seq
MIRT766865	hsa-miR-3129-5p	CLIP-seq
MIRT766866	hsa-miR-3130-5p	CLIP-seq
MIRT766867	hsa-miR-4272	CLIP-seq
MIRT766868	hsa-miR-4473	CLIP-seq
MIRT766869	hsa-miR-4482	CLIP-seq
MIRT766870	hsa-miR-512-3p	CLIP-seq
MIRT766871	hsa-miR-516a-5p	CLIP-seq
MIRT766872	hsa-miR-520f	CLIP-seq
MIRT1925914	hsa-miR-214	CLIP-seq
MIRT1925915	hsa-miR-3153	CLIP-seq
MIRT1925916	hsa-miR-3177-5p	CLIP-seq
MIRT1925917	hsa-miR-3619-5p	CLIP-seq
MIRT1925918	hsa-miR-3665	CLIP-seq
MIRT1925919	hsa-miR-3667-5p	CLIP-seq
MIRT1925920	hsa-miR-3934	CLIP-seq
MIRT1925921	hsa-miR-4329	CLIP-seq
MIRT1925922	hsa-miR-4438	CLIP-seq
MIRT1925923	hsa-miR-4514	CLIP-seq
MIRT1925924	hsa-miR-4692	CLIP-seq
MIRT1925925	hsa-miR-4786-5p	CLIP-seq
MIRT1925926	hsa-miR-5095	CLIP-seq
MIRT1925927	hsa-miR-761	CLIP-seq
MIRT1925928	hsa-miR-769-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	25416956, 32296183
GO:0005576	Component	Extracellular region	IEA
GO:0030198	Process	Extracellular matrix organization	IEA
GO:0031012	Component	Extracellular matrix	IBA

Other IDs

• MIM: 609199
• HGNC: 14633
• e!Ensembl: ENSG00000156218

Protein

• UniProt ID: P82987
• Protein name: ADAMTS-like protein 3 (ADAMTSL-3) (Punctin-2)
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00090	TSP_1	79 → 123	Thrombospondin type 1 domain	Domain
  PF19030	TSP1_ADAMTS	343 → 401		Domain
  PF19030	TSP1_ADAMTS	422 → 479		Domain
  PF19030	TSP1_ADAMTS	482 → 534		Domain
  PF19030	TSP1_ADAMTS	568 → 625		Domain
  PF19030	TSP1_ADAMTS	648 → 703		Domain
  PF19030	TSP1_ADAMTS	707 → 759		Domain
  PF19030	TSP1_ADAMTS	763 → 819		Domain
  PF19030	TSP1_ADAMTS	824 → 880		Domain
  PF07679	I-set	1307 → 1384	Immunoglobulin I-set domain	Domain
  PF19030	TSP1_ADAMTS	1428 → 1483		Domain
  PF19030	TSP1_ADAMTS	1487 → 1544		Domain
  PF19030	TSP1_ADAMTS	1601 → 1655		Domain
  PF08686	PLAC	1659 → 1689	PLAC (protease and lacunin) domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in epithelial cells of the colon, fallopian tube, skin, breast, prostate, epididymis, liver, pancreatic islets and bile ducts, as well as by vascular endothelial cells, smooth muscle cells, fibroblasts, cortical and ganglioni
• Sequence:

  MASWTSPWWVLIGMVFMHSPLPQTTAEKSPGAYFLPEFALSPQGSFLEDTTGEQFLTYRY
  DDQTSRNTRSDEDKDGNWDAWGDWSDCSRTCGGGASYSLRRCLTGRNCEGQNIRYKTCSN
  HDCPPDAEDFRAQQCSAYNDVQYQGHYYEWLPRYNDPAAPCALKCHAQGQNLVVELAPKV
  LDGTRCNTDSLDMCISGICQAVGCDRQLGSNAKEDNCGVCAGDGSTCRLVRGQSKSHVSP
  EKREENVIAVPLGSRSVRITVKGPAHLFIESKTLQGSKGEHSFNSPGVFLVENTTVEFQR
  GSERQTFKIPGPLMADFIFKTRYTAAKDSVVQFFFYQPISHQWRQTDFFPCTVTCGGGYQ
  LNSAECVDIRLKRVVPDHYCHYYPENVKPKPKLKECSMDPCPSSDGFKEIMPYDHFQPLP
  RWEHNPWTACSVSCGGGIQRRSFVCVEESMHGEILQVEEWKCMYAPKPKVMQTCNLFDCP
  KWIAMEWSQCTVTCGRGLRYRVVLCINHRGEHVGGCNPQLKLHIKEECVIPIPCYKPKEK
  SPVEAKLPWLKQAQELEETRIATEEPTFIPEPWSACSTTCGPGVQVREVKCRVLLTFTQT
  ETELPEEECEGPKLPTERPCLLEACDESPASRELDIPLPEDSETTYDWEYAGFTPCTATC
  VGGHQEAIAVCLHIQTQQTVNDSLCDMVHRPPAMSQACNTEPCPPRWHVGSWGPCSATCG
  VGIQTRDVYCLHPGETPAPPEECRDEKPHALQACNQFDCPPGWHIEEWQQCSRTCGGGTQ
  NRRVTCRQLLTDGSFLNLSDELCQGPKASSHKSCARTDCPPHLAVGDWSKCSVSCGVGIQ
  RRKQVCQRLAAKGRRIPLSEMMCRDLPGLPLVRSCQMPECSKIKSEMKTKLGEQGPQILS
  VQRVYIQTREEKRINLTIGSRAYLLPNTSVIIKCPVRRFQKSLIQWEKDGRCLQNSKRLG
  ITKSGSLKIHGLAAPDIGVYRCIAGSAQETVVLKLIGTDNRLIARPALREPMREYPGMDH
  SEANSLGVTWHKMRQMWNNKNDLYLDDDHISNQPFLRALLGHCSNSAGSTNSWELKNKQF
  EAAVKQGAYSMDTAQFDELIRNMSQLMETGEVSDDLASQLIYQLVAELAKAQPTHMQWRG
  IQEETPPAAQLRGETGSVSQSSHAKNSGKLTFKPKGPVLMRQSQPPSISFNKTINSRIGN
  TVYITKRTEVINILCDLITPSEATYTWTKDGTLLQPSVKIILDGTGKIQIQNPTRKEQGI
  YECSVANHLGSDVESSSVLYAEAPVILSVERNITKPEHNHLSVVVGGIVEAALGANVTIR
  CPVKGVPQPNITWLKRGGSLSGNVSLLFNGSLLLQNVSLENEGTYVCIATNALGKAVATS
  VLHLLERRWPESRIVFLQGHKKYILQATNTRTNSNDPTGEPPPQEPFWEPGNWSHCSATC
  GHLGARIQRPQCVMANGQEVSEALCDHLQKPLAGFEPCNIRDCPARWFTSVWSQCSVSCG
  EGYHSRQVTCKRTKANGTVQVVSPRACAPKDRPLGRKPCFGHPCVQWEPGNRCPGRCMGR
  AVRMQQRHTACQHNSSDSNCDDRKRPTLRRNCTSGACDVCWHTGPWKPCTAACGRGFQSR
  KVDCIHTRSCKPVAKRHCVQKKKPISWRHCLGPSCDRDCTDTTHYCMFVKHLNLCSLDRY
  KQRCCQSCQEG

• Sequence length: 1691

Pathways

Reactome:

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

Associated diseases

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Cervical cancer	Likely benign	rs62026486	RCV005908766
Cholangiocarcinoma	Benign	rs149499512	RCV005906682
Colon adenocarcinoma	Uncertain significance; Likely benign	rs148020587, rs62026486	RCV005928908 RCV005908765
Familial cancer of breast	Benign	rs149499512	RCV005906680
Gastric cancer	Uncertain significance	rs748231362	RCV005937422
Lung adenocarcinoma	Uncertain significance	rs2548818934, rs2548495130	RCV003129666 RCV003129704
Lung cancer	Benign; Likely benign	rs149499512, rs62026486	RCV005906683 RCV005908769
Malignant lymphoma, large B-cell, diffuse	Benign	rs12439867	RCV005919830
Sarcoma	Benign; Likely benign	rs149499512, rs62026486	RCV005906681 RCV005908767
Squamous cell carcinoma	Uncertain significance	rs2548371578, rs2548371577, rs2548313413	RCV003129641 RCV003129642 RCV003129648
Thyroid cancer, nonmedullary, 1	Likely benign	rs62026486	RCV005908768

Associations from Text Mining
Disease Name	Relationship Type	References
Carcinoma Non Small Cell Lung	Associate	26462029
Colorectal Neoplasms	Associate	28865443
Death	Associate	26462029
Diabetes Mellitus Type 2	Associate	34390125
Hernia Inguinal	Associate	35680855
Neoplasms	Associate	28193203
Periodontitis	Associate	36927684