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Q8TE56 (ATS17_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 116. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
A disintegrin and metalloproteinase with thrombospondin motifs 17

Short name=ADAM-TS 17
Short name=ADAM-TS17
Short name=ADAMTS-17
EC=3.4.24.-
Gene names
Name:ADAMTS17
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1095 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at transcript level

General annotation (Comments)

Subcellular location

Secretedextracellular spaceextracellular matrix By similarity.

Tissue specificity

Isoform 1 and isoform 2 are expressed at high levels in the lung, brain, whole eye and retina. Isoform 1 shows a weaker expression in the heart, kidney and skeletal muscle. Isoform 2 shows a weaker expression in the kidney, bone marrow and skeletal muscle. Isoform 1 and isoform 2 are expressed at high levels in the fetal heart, kidney, and whole eye, whereas a weak expression is seen in the fetal liver. Ref.5

Domain

The conserved cysteine present in the cysteine-switch motif binds the catalytic zinc ion, thus inhibiting the enzyme. The dissociation of the cysteine from the zinc ion upon the activation-peptide release activates the enzyme.

Post-translational modification

The precursor is cleaved by a furin endopeptidase By similarity.

Glycosylated. Can be O-fucosylated by POFUT2 on a serine or a threonine residue found within the consensus sequence C1-X(2)-(S/T)-C2-G of the TSP type-1 repeat domains where C1 and C2 are the first and second cysteine residue of the repeat, respectively. Fucosylated repeats can then be further glycosylated by the addition of a beta-1,3-glucose residue by the glucosyltransferase, B3GALTL. Fucosylation mediates the efficient secretion of ADAMTS family members. Also can be C-glycosylated with one or two mannose molecules on tryptophan residues within the consensus sequence W-X-X-W of the TPRs, and N-glycosylated. These other glycosylations can also facilitate secretion By similarity.

Involvement in disease

Weill-Marchesani-like syndrome (WMLS) [MIM:613195]: A disorder characterized by many of the key features of Weill-Marchesani syndrome, including lenticular myopia, ectopia lentis, glaucoma, spherophakia and short stature. However, the characteristic brachydactyly or decreased joint flexibility of Weill-Marchesani syndrome are absent.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.5

Sequence similarities

Contains 1 disintegrin domain.

Contains 1 peptidase M12B domain.

Contains 1 PLAC domain.

Contains 5 TSP type-1 domains.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Note: Additional isoforms may exist.
Isoform 1 (identifier: Q8TE56-1)

Also known as: a;

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 2 (identifier: Q8TE56-2)

Also known as: b;

The sequence of this isoform differs from the canonical sequence as follows:
     1-243: Missing.
     713-745: ALKDSGKGSINSDWKIELPGEFQIAGTTVRYVR → GYIEAAVIPAGARRIRVVEDKPAHSFLGKTQMT
     746-1095: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2727 Potential
Propeptide28 – 223196 By similarity
PRO_0000029198
Chain224 – 1095872A disintegrin and metalloproteinase with thrombospondin motifs 17
PRO_0000029199

Regions

Domain232 – 452221Peptidase M12B
Domain453 – 54290Disintegrin
Domain543 – 59856TSP type-1 1
Domain800 – 86061TSP type-1 2
Domain861 – 92262TSP type-1 3
Domain925 – 96844TSP type-1 4
Domain972 – 102958TSP type-1 5
Domain1045 – 108440PLAC
Region702 – 77978Spacer
Motif199 – 2068Cysteine switch By similarity
Compositional bias60 – 12061Arg-rich
Compositional bias599 – 701103Cys-rich

Sites

Active site3901 By similarity
Metal binding2011Zinc; in inhibited form By similarity
Metal binding3891Zinc; catalytic By similarity
Metal binding3931Zinc; catalytic By similarity
Metal binding3991Zinc; catalytic By similarity

Amino acid modifications

Glycosylation1671N-linked (GlcNAc...) Potential
Glycosylation4831N-linked (GlcNAc...) Potential
Glycosylation7851N-linked (GlcNAc...) Potential
Glycosylation7901N-linked (GlcNAc...) Potential
Glycosylation8321N-linked (GlcNAc...) Potential
Glycosylation8391N-linked (GlcNAc...) Potential
Glycosylation8941N-linked (GlcNAc...) Potential
Disulfide bond308 ↔ 373 By similarity
Disulfide bond348 ↔ 355 By similarity
Disulfide bond367 ↔ 447 By similarity
Disulfide bond406 ↔ 431 By similarity
Disulfide bond476 ↔ 500 By similarity
Disulfide bond487 ↔ 508 By similarity
Disulfide bond495 ↔ 527 By similarity
Disulfide bond521 ↔ 532 By similarity
Disulfide bond555 ↔ 592 By similarity
Disulfide bond559 ↔ 597 By similarity
Disulfide bond570 ↔ 582 By similarity
Disulfide bond873 ↔ 916 By similarity
Disulfide bond877 ↔ 921 By similarity
Disulfide bond888 ↔ 905 By similarity

Natural variations

Alternative sequence1 – 243243Missing in isoform 2.
VSP_040331
Alternative sequence713 – 74533ALKDS…VRYVR → GYIEAAVIPAGARRIRVVED KPAHSFLGKTQMT in isoform 2.
VSP_040332
Alternative sequence746 – 1095350Missing in isoform 2.
VSP_040333
Natural variant2161S → L. Ref.5
Corresponds to variant rs7496668 [ dbSNP | Ensembl ].
VAR_057081
Natural variant4821M → T. Ref.5
Corresponds to variant rs28567966 [ dbSNP | Ensembl ].
VAR_057082
Natural variant5661R → T. Ref.2
VAR_064041
Natural variant10941N → S. Ref.1 Ref.5
Corresponds to variant rs2573652 [ dbSNP | Ensembl ].
VAR_060317

Experimental info

Sequence conflict7021V → A in BAD18500. Ref.3

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 (a) [UniParc].

Last modified May 18, 2010. Version 2.
Checksum: A5D7A40484754D5D

FASTA1,095121,127
        10         20         30         40         50         60 
MCDGALLPPL VLPVLLLLVW GLDPGTAVGD AAADVEVVLP WRVRPDDVHL PPLPAAPGPR 

        70         80         90        100        110        120 
RRRRPRTPPA APRARPGERA LLLHLPAFGR DLYLQLRRDL RFLSRGFEVE EAGAARRRGR 

       130        140        150        160        170        180 
PAELCFYSGR VLGHPGSLVS LSACGAAGGL VGLIQLGQEQ VLIQPLNNSQ GPFSGREHLI 

       190        200        210        220        230        240 
RRKWSLTPSP SAEAQRPEQL CKVLTEKKKP TWGRPSRDWR ERRNAIRLTS EHTVETLVVA 

       250        260        270        280        290        300 
DADMVQYHGA EAAQRFILTV MNMVYNMFQH QSLGIKINIQ VTKLVLLRQR PAKLSIGHHG 

       310        320        330        340        350        360 
ERSLESFCHW QNEEYGGARY LGNNQVPGGK DDPPLVDAAV FVTRTDFCVH KDEPCDTVGI 

       370        380        390        400        410        420 
AYLGGVCSAK RKCVLAEDNG LNLAFTIAHE LGHNLGMNHD DDHSSCAGRS HIMSGEWVKG 

       430        440        450        460        470        480 
RNPSDLSWSS CSRDDLENFL KSKVSTCLLV TDPRSQHTVR LPHKLPGMHY SANEQCQILF 

       490        500        510        520        530        540 
GMNATFCRNM EHLMCAGLWC LVEGDTSCKT KLDPPLDGTE CGADKWCRAG ECVSKTPIPE 

       550        560        570        580        590        600 
HVDGDWSPWG AWSMCSRTCG TGARFRQRKC DNPPPGPGGT HCPGASVEHA VCENLPCPKG 

       610        620        630        640        650        660 
LPSFRDQQCQ AHDRLSPKKK GLLTAVVVDD KPCELYCSPL GKESPLLVAD RVLDGTPCGP 

       670        680        690        700        710        720 
YETDLCVHGK CQKIGCDGII GSAAKEDRCG VCSGDGKTCH LVKGDFSHAR GTALKDSGKG 

       730        740        750        760        770        780 
SINSDWKIEL PGEFQIAGTT VRYVRRGLWE KISAKGPTKL PLHLMVLLFH DQDYGIHYEY 

       790        800        810        820        830        840 
TVPVNRTAEN QSEPEKPQDS LFIWTHSGWE GCSVQCGGGE RRTIVSCTRI VNKTTTLVND 

       850        860        870        880        890        900 
SDCPQASRPE PQVRRCNLHP CQSRWVAGPW SPCSATCEKG FQHREVTCVY QLQNGTHVAT 

       910        920        930        940        950        960 
RPLYCPGPRP AAVQSCEGQD CLSIWEASEW SQCSASCGKG VWKRTVACTN SQGKCDASTR 

       970        980        990       1000       1010       1020 
PRAEEACEDY SGCYEWKTGD WSTCSSTCGK GLQSRVVQCM HKVTGRHGSE CPALSKPAPY 

      1030       1040       1050       1060       1070       1080 
RQCYQEVCND RINANTITSP RLAALTYKCT RDQWTVYCRV IREKNLCQDM RWYQRCCQTC 

      1090 
RDFYANKMRQ PPPNS 

« Hide

Isoform 2 (b) [UniParc].

Checksum: 6CABF495FDC4AE21
Show »

FASTA50254,757

References

« Hide 'large scale' references
[1]"Cloning, expression analysis, and structural characterization of seven novel human ADAMTSs, a family of metalloproteinases with disintegrin and thrombospondin-1 domains."
Cal S., Obaya A.J., Llamazares M., Garabaya C., Quesada V., Lopez-Otin C.
Gene 283:49-62(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT SER-1094.
[2]"Genetic variation in ADAMTS17 gene."
Tan J., Davila S., Hibberd M.L., Seielstad M.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT THR-566.
[3]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
Tissue: Thymus.
[4]"Analysis of the DNA sequence and duplication history of human chromosome 15."
Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K., Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N., Abouelleil A. expand/collapse author list , Arachchi H.M., Baradarani L., Birditt B., Bloom S., Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K., DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J., Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E., Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B., Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R., O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B., Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S., Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C.
Nature 440:671-675(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]"Homozygous mutations in ADAMTS10 and ADAMTS17 cause lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature."
Morales J., Al-Sharif L., Khalil D.S., Shinwari J.M., Bavi P., Al-Mahrouqi R.A., Al-Rajhi A., Alkuraya F.S., Meyer B.F., Al Tassan N.
Am. J. Hum. Genet. 85:558-568(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS LEU-216; THR-482 AND SER-1094, INVOLVEMENT IN WMLS, ALTERNATIVE SPLICING, TISSUE SPECIFICITY.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AJ315735 mRNA. Translation: CAC86016.1.
DQ217943 Genomic DNA. Translation: ABB70740.1.
AK131344 mRNA. Translation: BAD18500.1.
AC015723 Genomic DNA. No translation available.
AC022710 Genomic DNA. No translation available.
AC084855 Genomic DNA. No translation available.
AC113187 Genomic DNA. No translation available.
CCDSCCDS10383.1. [Q8TE56-1]
RefSeqNP_620688.2. NM_139057.2. [Q8TE56-1]
UniGeneHs.513200.

3D structure databases

ProteinModelPortalQ8TE56.
SMRQ8TE56. Positions 234-711.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid128083. 1 interaction.
STRING9606.ENSP00000268070.

Protein family/group databases

MEROPSM12.027.

PTM databases

PhosphoSiteQ8TE56.

Polymorphism databases

DMDM296434401.

Proteomic databases

PaxDbQ8TE56.
PRIDEQ8TE56.

Protocols and materials databases

DNASU170691.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000268070; ENSP00000268070; ENSG00000140470. [Q8TE56-1]
GeneID170691.
KEGGhsa:170691.
UCSCuc002bvv.1. human. [Q8TE56-1]
uc002bvx.1. human. [Q8TE56-2]

Organism-specific databases

CTD170691.
GeneCardsGC15M100511.
H-InvDBHIX0012615.
HGNCHGNC:17109. ADAMTS17.
MIM607511. gene.
613195. phenotype.
neXtProtNX_Q8TE56.
Orphanet363992. Ichthyosis-short stature-brachydactyly-microspherophakia syndrome.
PharmGKBPA24543.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG259740.
HOGENOMHOG000004800.
HOVERGENHBG050621.
InParanoidQ8TE56.
KOK08631.
OMAASEWSQC.
OrthoDBEOG722J7P.
PhylomeDBQ8TE56.
TreeFamTF313537.

Enzyme and pathway databases

ReactomeREACT_17015. Metabolism of proteins.

Gene expression databases

ArrayExpressQ8TE56.
BgeeQ8TE56.
CleanExHS_ADAMTS17.
GenevestigatorQ8TE56.

Family and domain databases

Gene3D3.40.390.10. 1 hit.
InterProIPR010294. ADAM_spacer1.
IPR024079. MetalloPept_cat_dom.
IPR001590. Peptidase_M12B.
IPR013273. Peptidase_M12B_ADAM-TS.
IPR002870. Peptidase_M12B_N.
IPR010909. PLAC.
IPR000884. Thrombospondin_1_rpt.
IPR007087. Znf_C2H2.
[Graphical view]
PfamPF05986. ADAM_spacer1. 1 hit.
PF01562. Pep_M12B_propep. 1 hit.
PF08686. PLAC. 1 hit.
PF01421. Reprolysin. 1 hit.
PF00090. TSP_1. 4 hits.
[Graphical view]
PRINTSPR01857. ADAMTSFAMILY.
SMARTSM00209. TSP1. 5 hits.
[Graphical view]
SUPFAMSSF82895. SSF82895. 5 hits.
PROSITEPS50215. ADAM_MEPRO. 1 hit.
PS50900. PLAC. 1 hit.
PS50092. TSP1. 5 hits.
PS00142. ZINC_PROTEASE. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSADAMTS17. human.
GenomeRNAi170691.
NextBio89106.
PROQ8TE56.
SOURCESearch...

Entry information

Entry nameATS17_HUMAN
AccessionPrimary (citable) accession number: Q8TE56
Secondary accession number(s): Q2I7G4, Q6ZN75
Entry history
Integrated into UniProtKB/Swiss-Prot: February 28, 2003
Last sequence update: May 18, 2010
Last modified: July 9, 2014
This is version 116 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

Peptidase families

Classification of peptidase families and list of entries

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 15

Human chromosome 15: entries, gene names and cross-references to MIM