Reviewed, UniProtKB/Swiss-Prot Q86TH1 (ATL2_HUMAN)

Names and origin

Protein names

Recommended name:
    ADAMTS-like protein 2
      Short name=ADAMTSL-2

Gene names

Name:	ADAMTSL2
Synonyms:	KIAA0605

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	951 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level.

General annotation (Comments)

Subunit structure	Interacts with LTBP1. Ref.4
Subcellular location	Secreted Potential.
Involvement in disease	Defects in ADAMTSL2 are the cause of geleophysic dysplasia [MIM:231050]. Geleophysic dysplasia is an autosomal recessive disorder characterized by short stature, brachydactyly, thick skin and cardiac valvular anomalies often responsible for an early death. Ref.4
Miscellaneous	There is a significant increase in total and active TGFB1 in the culture medium as well as nuclear localization of phosphorylated SMAD2 in fibroblasts from individuals with geleophysic dysplasia.
Sequence similarities	Contains 1 PLAC domain. Contains 7 TSP type-1 domains.
Caution	Although strongly similar to members of the ADAMTS family it lacks the metalloprotease and disintegrin-like domains which are typical of that family.

Ontologies

Keywords
Cellular component	Secreted
Coding sequence diversity	Polymorphism
Disease	Disease mutation
Domain	Repeat Signal
PTM	Disulfide bond Glycoprotein
Technical term	Complete proteome
Gene Ontology (GO)
Cellular component	proteinaceous extracellular matrix Inferred from electronic annotation. Source: InterPro
Molecular function	metalloendopeptidase activity Inferred from electronic annotation. Source: InterPro zinc ion binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 22	22	Potential
	Chain	23 – 951	929	ADAMTS-like protein 2		PRO_0000249682
Regions
	Domain	47 – 106	60	TSP type-1 1
	Domain	564 – 618	55	TSP type-1 2
	Domain	622 – 686	65	TSP type-1 3
	Domain	688 – 736	49	TSP type-1 4
	Domain	737 – 795	59	TSP type-1 5
	Domain	797 – 851	55	TSP type-1 6
	Domain	853 – 908	56	TSP type-1 7
	Domain	912 – 950	39	PLAC
Amino acid modifications
	Glycosylation	87	1	N-linked (GlcNAc...) Potential
	Glycosylation	367	1	N-linked (GlcNAc...) Potential
	Glycosylation	428	1	N-linked (GlcNAc...) Potential
	Glycosylation	475	1	N-linked (GlcNAc...) Potential
	Glycosylation	511	1	N-linked (GlcNAc...) Potential
	Glycosylation	524	1	N-linked (GlcNAc...) Potential
	Glycosylation	533	1	N-linked (GlcNAc...) Potential
	Glycosylation	544	1	N-linked (GlcNAc...) Potential
	Glycosylation	731	1	N-linked (GlcNAc...) Potential
	Glycosylation	807	1	N-linked (GlcNAc...) Potential
	Disulfide bond	59 ↔ 100		By similarity
	Disulfide bond	63 ↔ 105		By similarity
	Disulfide bond	74 ↔ 90		By similarity
Natural variations
	Natural variant	113	1	R → H in geleophysic dysplasia; leads to the reduced secretion of the mutated protein. Ref.4		VAR_054874
	Natural variant	114	1	E → K in geleophysic dysplasia. Ref.4		VAR_054875
	Natural variant	147	1	P → L in geleophysic dysplasia; leads to the reduced secretion of the mutated protein. Ref.4		VAR_054876
	Natural variant	364	1	V → I: dbSNP rs35767802. Ref.1		VAR_046011
	Natural variant	811	1	G → R in geleophysic dysplasia; leads to the reduced secretion of the mutated protein. Ref.4		VAR_054877
Experimental info
	Sequence conflict	59	1	C → F in BAA25531. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Q86TH1-1 [UniParc]. Last modified June 1, 2003. Version 1. Checksum: 93A9B0DC5BAB6CC7	FASTA	951	104,621
	10 20 30 40 50 60 MDGRWQCSCW AWFLLVLAVV AGDTVSTGST DNSPTSNSLE GGTDATAFWW GEWTKWTACS 70 80 90 100 110 120 RSCGGGVTSQ ERHCLQQRRK SVPGPGNRTC TGTSKRYQLC RVQECPPDGR SFREEQCVSF 130 140 150 160 170 180 NSHVYNGRTH QWKPLYPDDY VHISSKPCDL HCTTVDGQRQ LMVPARDGTS CKLTDLRGVC 190 200 210 220 230 240 VSGKCEPIGC DGVLFSTHTL DKCGICQGDG SSCTHVTGNY RKGNAHLGYS LVTHIPAGAR 250 260 270 280 290 300 DIQIVERKKS ADVLALADEA GYYFFNGNYK VDSPKNFNIA GTVVKYRRPM DVYETGIEYI 310 320 330 340 350 360 VAQGPTNQGL NVMVWNQNGK SPSITFEYTL LQPPHESRPQ PIYYGFSESA ESQGLDGAGL 370 380 390 400 410 420 MGFVPHNGSL YGQASSERLG LDNRLFGHPG LDMELGPSQG QETNEVCEQA GGGACEGPPR 430 440 450 460 470 480 GKGFRDRNVT GTPLTGDKDD EEVDTHFASQ EFFSANAISD QLLGAGSDLK DFTLNETVNS 490 500 510 520 530 540 IFAQGAPRSS LAESFFVDYE ENEGAGPYLL NGSYLELSSD RVANSSSEAP FPNVSTSLLT 550 560 570 580 590 600 SAGNRTHKAR TRPKARKQGV SPADMYRWKL SSHEPCSATC TTGVMSAYAM CVRYDGVEVD 610 620 630 640 650 660 DSYCDALTRP EPVHEFCAGR ECQPRWETSS WSECSRTCGE GYQFRVVRCW KMLSPGFDSS 670 680 690 700 710 720 VYSDLCEAAE AVRPEERKTC RNPACGPQWE MSEWSECTAK CGERSVVTRD IRCSEDEKLC 730 740 750 760 770 780 DPNTRPVGEK NCTGPPCDRQ WTVSDWGPCS GSCGQGRTIR HVYCKTSDGR VVPESQCQME 790 800 810 820 830 840 TKPLAIHPCG DKNCPAHWLA QDWERCNTTC GRGVKKRLVL CMELANGKPQ TRSGPECGLA 850 860 870 880 890 900 KKPPEESTCF ERPCFKWYTS PWSECTKTCG VGVRMRDVKC YQGTDIVRGC DPLVKPVGRQ 910 920 930 940 950 ACDLQPCPTE PPDDSCQDQP GTNCALAIKV NLCGHWYYSK ACCRSCRPPH S

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro." Nagase T., Ishikawa K., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O. DNA Res. 5:31-39(1998) [PubMed: 9628581] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT ILE-364. Tissue: Brain.
[2]	"DNA sequence and analysis of human chromosome 9." Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L. , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I. Nature 429:369-374(2004) [PubMed: 15164053] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: PNS.
[4]	"ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation." Le Goff C., Morice-Picard F., Dagoneau N., Wang L.W., Perrot C., Crow Y.J., Bauer F., Flori E., Prost-Squarcioni C., Krakow D., Ge G., Greenspan D.S., Bonnet D., Le Merrer M., Munnich A., Apte S.S., Cormier-Daire V. Nat. Genet. 40:1119-1123(2008) [PubMed: 18677313] [Abstract] Cited for: VARIANTS GELEOPHYSIC DYSPLASIA HIS-113; LYS-114; LEU-147 AND ARG-811, CHARACTERIZATION OF VARIANTS HIS-113; LEU-147 AND ARG-811, INTERACTION WITH LTBP1.

Web resources

GeneReviews

Cross-references

Sequence databases
EMBLGenBankDDBJ	AB011177 mRNA. Translation: BAA25531.2. Different initiation. BX324209, BX629352, BX649571 Genomic DNA. Translation: CAI17317.1. BX649571, BX324209, BX629352 Genomic DNA. Translation: CAI18773.1. BX629352, BX324209, BX649571 Genomic DNA. Translation: CAI23592.1. BC050544 mRNA. Translation: AAH50544.1.
IPI	IPI00644346.
PIR	T00260.
RefSeq	NP_001138792.1. NP_055509.2.
UniGene	Hs.522543
3D structure databases
HSSP	HSSP built from PDB template 1LSL based on UniProtKB P07996.
ModBase	Search...
Protein-protein interaction databases
STRING	Q86TH1.
Proteomic databases
PRIDE	Q86TH1.
Genome annotation databases
Ensembl	ENST00000354484; ENSP00000346478; ENSG00000197859; Homo sapiens. [Genome view] ENST00000393060; ENSP00000376780; ENSG00000197859; Homo sapiens. [Genome view] ENST00000393061; ENSP00000376781; ENSG00000197859; Homo sapiens. [Genome view]
GeneID	9719.
KEGG	hsa:9719.
UCSC	uc004cei.1. human.
Organism-specific databases
CTD	9719.
GeneCards	GC09P135387. GC09P135388.
HGNC	HGNC:14631. ADAMTSL2.
MIM	231050. phenotype. 612277. gene.
Orphanet	2623. Geleophysic dwarfism.
PharmGKB	PA134920655.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
HOVERGEN	Q86TH1.
InParanoid	Q86TH1.
OrthoDB	EOG94XN26.
Gene expression databases
ArrayExpress	Q86TH1.
Bgee	Q86TH1.
CleanEx	HS_ADAMTSL2.
Genevestigator	Q86TH1.
GermOnline	ENSG00000197859. Homo sapiens.
Family and domain databases
InterPro	IPR010294. ADAM_spacer1. IPR013273. Peptidase_M12B_ADAM-TS. IPR010909. PLAC. IPR000884. Thrombospondin_1_rpt. [Graphical view]
Pfam	PF05986. ADAM_spacer1. 1 hit. PF08686. PLAC. 1 hit. PF00090. TSP_1. 4 hits. [Graphical view]
PRINTS	PR01857. ADAMTSFAMILY.
SMART	SM00209. TSP1. 7 hits. [Graphical view]
PROSITE	PS50900. PLAC. 1 hit. PS50092. TSP1. 4 hits. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	36549.
SOURCE	Search...

Entry information

Entry name

ATL2_HUMAN

Accession

Primary (citable) accession number: Q86TH1
Secondary accession number(s): B1B0D5, O60345

Entry history

Integrated into UniProtKB/Swiss-Prot:	September 19, 2006
Last sequence update:	June 1, 2003
Last modified:	December 15, 2009
This is version 54 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.