ADAMTSL4 (ADAMTS like 4)

Gene

• Entrez ID: 54507
• Gene name: ADAMTS like 4
• Gene symbol: ADAMTSL4
• Synonyms: ADAMTSL-4, ECTOL2, TSRC1
• Chromosome: 1
• Chromosome location: 1q21.2
• Summary: This gene is a member of ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs)-like gene family and encodes a protein with seven thrombospondin type 1 repeats. The thrombospondin type 1 repeat domain is found in many proteins with divers

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs781691587	G>A	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant, downstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT023704	hsa-miR-1-3p	Microarray	18668037
MIRT766873	hsa-miR-34a	CLIP-seq
MIRT766874	hsa-miR-34c-5p	CLIP-seq
MIRT766875	hsa-miR-449a	CLIP-seq
MIRT766876	hsa-miR-449b	CLIP-seq
MIRT1925929	hsa-miR-1827	CLIP-seq
MIRT1925930	hsa-miR-4753-3p	CLIP-seq
MIRT766873	hsa-miR-34a	CLIP-seq
MIRT766874	hsa-miR-34c-5p	CLIP-seq
MIRT766875	hsa-miR-449a	CLIP-seq
MIRT766876	hsa-miR-449b	CLIP-seq
MIRT2674508	hsa-miR-1207-5p	CLIP-seq
MIRT2674509	hsa-miR-1321	CLIP-seq
MIRT1925929	hsa-miR-1827	CLIP-seq
MIRT2674510	hsa-miR-1909	CLIP-seq
MIRT2674511	hsa-miR-3162-5p	CLIP-seq
MIRT2674512	hsa-miR-3612	CLIP-seq
MIRT2674513	hsa-miR-4688	CLIP-seq
MIRT2674514	hsa-miR-4739	CLIP-seq
MIRT2674515	hsa-miR-4756-5p	CLIP-seq
MIRT2674516	hsa-miR-4763-3p	CLIP-seq
MIRT2674517	hsa-miR-650	CLIP-seq
MIRT2674518	hsa-miR-940	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002020	Function	Protease binding	IPI	16364318
GO:0002064	Process	Epithelial cell development	IEA
GO:0004222	Function	Metalloendopeptidase activity	IBA	21873635
GO:0005515	Function	Protein binding	IPI	16189514, 16364318, 19060904, 23088713, 29758265
GO:0005614	Component	Interstitial matrix	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0006508	Process	Proteolysis	IEA
GO:0006915	Process	Apoptotic process	IEA
GO:0030198	Process	Extracellular matrix organization	IBA	21873635
GO:0031012	Component	Extracellular matrix	IBA	21873635
GO:0043065	Process	Positive regulation of apoptotic process	IDA	16364318
GO:0062023	Component	Collagen-containing extracellular matrix	HDA	25037231
GO:0062023	Component	Collagen-containing extracellular matrix	HDA	28327460

Other IDs

• MIM: 610113
• HGNC: 19706
• e!Ensembl: ENSG00000143382

Protein

• UniProt ID: Q6UY14
• Protein name: ADAMTS-like protein 4 (ADAMTSL-4) (Thrombospondin repeat-containing protein 1)
• Protein function: Positive regulation of apoptosis. May facilitate FBN1 microfibril biogenesis.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00090	TSP_1	48 → 82	Thrombospondin type 1 domain	Domain
  PF05986	ADAM_spacer1	485 → 600	ADAM-TS Spacer 1	Family
  PF19030	TSP1_ADAMTS	727 → 783		Domain
  PF19030	TSP1_ADAMTS	786 → 841		Domain
  PF19030	TSP1_ADAMTS	845 → 908		Domain
  PF19030	TSP1_ADAMTS	914 → 970		Domain
  PF19030	TSP1_ADAMTS	974 → 1025		Domain
  PF08686	PLAC	1033 → 1063	PLAC (protease and lacunin) domain	Domain

• Sequence:

  MENWTGRPWLYLLLLLSLPQLCLDQEVLSGHSLQTPTEEGQGPEGVWGPWVQWASCSQPC
  GVGVQRRSRTCQLPTVQLHPSLPLPPRPPRHPEALLPRGQGPRPQTSPETLPLYRTQSRG
  RGGPLRGPASHLGREETQEIRAARRSRLRDPIKPGMFGYGRVPFALPLHRNRRHPRSPPR
  SELSLISSRGEEAIPSPTPRAEPFSANGSPQTELPPTELSVHTPSPQAEPLSPETAQTEV
  APRTRPAPLRHHPRAQASGTEPPSPTHSLGEGGFFRASPQPRRPSSQGWASPQVAGRRPD
  PFPSVPRGRGQQGQGPWGTGGTPHGPRLEPDPQHPGAWLPLLSNGPHASSLWSLFAPSSP
  IPRCSGESEQLRACSQAPCPPEQPDPRALQCAAFNSQEFMGQLYQWEPFTEVQGSQRCEL
  NCRPRGFRFYVRHTEKVQDGTLCQPGAPDICVAGRCLSPGCDGILGSGRRPDGCGVCGGD
  DSTCRLVSGNLTDRGGPLGYQKILWIPAGALRLQIAQLRPSSNYLALRGPGGRSIINGNW
  AVDPPGSYRAGGTVFRYNRPPREEGKGESLSAEGPTTQPVDVYMIFQEENPGVFYQYVIS
  SPPPILENPTPEPPVPQLQPEILRVEPPLAPAPRPARTPGTLQRQVRIPQMPAPPHPRTP
  LGSPAAYWKRVGHSACSASCGKGVWRPIFLCISRESGEELDERSCAAGARPPASPEPCHG
  TPCPPYWEAGEWTSCSRSCGPGTQHRQLQCRQEFGGGGSSVPPERCGHLPRPNITQSCQL
  RLCGHWEVGSPWSQCSVRCGRGQRSRQVRCVGNNGDEVSEQECASGPPQPPSREACDMGP
  CTTAWFHSDWSSKCSAECGTGIQRRSVVCLGSGAALGPGQGEAGAGTGQSCPTGSRPPDM
  RACSLGPCERTWRWYTGPWGECSSECGSGTQRRDIICVSKLGTEFNVTSPSNCSHLPRPP
  ALQPCQGQACQDRWFSTPWSPCSRSCQGGTQTREVQCLSTNQTLSTRCPPQLRPSRKRPC
  NSQPCSQRPDDQCKDSSPHCPLVVQARLCVYPYYTATCCRSCAHVLERSPQDPS

• Sequence length: 1074

Pathways

Reactome:

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

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Cataract	Cataract	rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322, rs121917775, rs121917735, rs121917736, rs137853199, rs137853200, rs121917867, rs121917869, rs121913555, rs104893736, rs121909595, rs121909596, rs121909597, rs28931605, rs121909598, rs104893618, rs1695062782, rs74315486, rs74315487, rs74315490, rs74315489, rs745938679, rs1566402656, rs74315439, rs74315441, rs121912973, rs121917823, rs1593332981, rs121917825, rs121917827, rs113994108, rs387906963, rs387906964, rs1240503246, rs387906965, rs387906966, rs750207077, rs387907336, rs387907337, rs387907342, rs140332366, rs397514703, rs398122937, rs398122378, rs398122392, rs398122944, rs137853924, rs398122947, rs397515623, rs397515624, rs397515625, rs397515626, rs398122948, rs587778872, rs398123066, rs587777601, rs370424081, rs786205221, rs786205222, rs864309684, rs864309688, rs864309701, rs864309689, rs864309690, rs864309681, rs864309686, rs864309696, rs864309693, rs864309687, rs864309691, rs864309692, rs864309695, rs864309678, rs864309685, rs864309700, rs864309698, rs864309683, rs864309682, rs864309679, rs111534978, rs864309680, rs864309702, rs864622780, rs756898971, rs869312732, rs775038545, rs878852983, rs1114167312, rs1114167313, rs1114167314, rs1114167315, rs1114167307, rs886041410, rs886041412, rs1057518738, rs1057517926, rs1057518878, rs1057519616, rs12799308, rs1064793935, rs1064797219, rs1085307126, rs1085307127, rs765628635, rs1114167427, rs1114167433, rs1554744860, rs1554743428, rs747093432, rs1411557416, rs1555179713, rs1481963503, rs1555549755, rs1456161420, rs1555547008, rs1555889308, rs1555888762, rs766522434, rs1264025914, rs1553585262, rs1567671947, rs1337897299, rs764945940, rs1307969607, rs949335475, rs1184095219, rs776129797, rs1569203234, rs1567668570, rs749141857, rs764098604, rs1184398243, rs1578956689, rs1568480054, rs1564745688, rs1564722302, rs1564723150, rs1571175950, rs1569602837, rs1576552712, rs1575369255, rs981126461, rs1570403798, rs200557771, rs1477743112, rs1651879427, rs1651881222, rs1651919374, rs2024441691, rs148284531, rs1246080692
Ectopia lentis	Ectopia Lentis, Ectopia Lentis with Ectopia of Pupil, Familial ectopia lentis, ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE	rs118203985, rs137854464, rs137854480, rs587776927, rs199473693, rs794726688, rs368482584, rs794726689, rs747160538, rs397514558, rs397515793, rs757318536, rs781691587, rs363806	21051722, 20702823, 28642162, 20564469, 20702823, 22871183, 22736615, 25975359, 20702823, 21051722, 20564469
Hypertension	Hypertensive disease	rs13306026, rs13333226
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896

Unknown
Disease name	Disease term	dbSNP ID	References
Congenital anomaly of eye	Congenital ectopic pupil
Ectopia lentis isolated	Ectopia lentis isolated, Ectopia Lentis, Isolated, Autosomal Recessive
Impaired cognition	Impaired cognition
Isolated ectopia lentis	Isolated ectopia lentis
Malocclusion	Class III malocclusion