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Protein

A disintegrin and metalloproteinase with thrombospondin motifs 17

Gene

ADAMTS17

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at transcript leveli

Functioni

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi201Zinc; in inhibited formBy similarity1
Metal bindingi389Zinc; catalyticBy similarity1
Active sitei390PROSITE-ProRule annotation1
Metal bindingi393Zinc; catalyticBy similarity1
Metal bindingi399Zinc; catalyticBy similarity1

GO - Molecular functioni

Complete GO annotation...

Keywords - Molecular functioni

Hydrolase, Metalloprotease, Protease

Keywords - Ligandi

Metal-binding, Zinc

Enzyme and pathway databases

BioCyciZFISH:ENSG00000140470-MONOMER.
ReactomeiR-HSA-5083635. Defective B3GALTL causes Peters-plus syndrome (PpS).
R-HSA-5173214. O-glycosylation of TSR domain-containing proteins.

Protein family/group databases

MEROPSiM12.027.

Names & Taxonomyi

Protein namesi
Recommended name:
A disintegrin and metalloproteinase with thrombospondin motifs 17 (EC:3.4.24.-)
Short name:
ADAM-TS 17
Short name:
ADAM-TS17
Short name:
ADAMTS-17
Gene namesi
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 15

Organism-specific databases

HGNCiHGNC:17109. ADAMTS17.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Extracellular matrix, Secreted

Pathology & Biotechi

Involvement in diseasei

Weill-Marchesani-like syndrome (WMLS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:613195

Keywords - Diseasei

Deafness, Dwarfism

Organism-specific databases

DisGeNETi170691.
MalaCardsiADAMTS17.
MIMi613195. phenotype.
OpenTargetsiENSG00000140470.
Orphaneti363992. Ichthyosis-short stature-brachydactyly-microspherophakia syndrome.
PharmGKBiPA24543.

Polymorphism and mutation databases

BioMutaiADAMTS17.
DMDMi296434401.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 27Sequence analysisAdd BLAST27
PropeptideiPRO_000002919828 – 223By similarityAdd BLAST196
ChainiPRO_0000029199224 – 1095A disintegrin and metalloproteinase with thrombospondin motifs 17Add BLAST872

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi167N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi308 ↔ 373By similarity
Disulfide bondi348 ↔ 355By similarity
Disulfide bondi367 ↔ 447By similarity
Disulfide bondi406 ↔ 431By similarity
Disulfide bondi476 ↔ 500By similarity
Glycosylationi483N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi487 ↔ 508By similarity
Disulfide bondi495 ↔ 527By similarity
Disulfide bondi521 ↔ 532By similarity
Disulfide bondi555 ↔ 592By similarity
Disulfide bondi559 ↔ 597By similarity
Disulfide bondi570 ↔ 582By similarity
Glycosylationi785N-linked (GlcNAc...)Sequence analysis1
Glycosylationi790N-linked (GlcNAc...)Sequence analysis1
Glycosylationi832N-linked (GlcNAc...)Sequence analysis1
Glycosylationi839N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi873 ↔ 916By similarity
Disulfide bondi877 ↔ 921By similarity
Disulfide bondi888 ↔ 905By similarity
Glycosylationi894N-linked (GlcNAc...)Sequence analysis1

Post-translational modificationi

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).By similarity

Keywords - PTMi

Cleavage on pair of basic residues, Disulfide bond, Glycoprotein, Zymogen

Proteomic databases

PaxDbiQ8TE56.
PeptideAtlasiQ8TE56.
PRIDEiQ8TE56.

PTM databases

iPTMnetiQ8TE56.
PhosphoSitePlusiQ8TE56.

Expressioni

Tissue specificityi

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.1 Publication

Gene expression databases

BgeeiENSG00000140470.
CleanExiHS_ADAMTS17.
ExpressionAtlasiQ8TE56. baseline and differential.
GenevisibleiQ8TE56. HS.

Interactioni

Protein-protein interaction databases

BioGridi128083. 1 interactor.
STRINGi9606.ENSP00000268070.

Structurei

3D structure databases

ProteinModelPortaliQ8TE56.
SMRiQ8TE56.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini232 – 452Peptidase M12BPROSITE-ProRule annotationAdd BLAST221
Domaini453 – 542DisintegrinAdd BLAST90
Domaini543 – 598TSP type-1 1PROSITE-ProRule annotationAdd BLAST56
Domaini800 – 860TSP type-1 2PROSITE-ProRule annotationAdd BLAST61
Domaini861 – 922TSP type-1 3PROSITE-ProRule annotationAdd BLAST62
Domaini925 – 968TSP type-1 4PROSITE-ProRule annotationAdd BLAST44
Domaini972 – 1029TSP type-1 5PROSITE-ProRule annotationAdd BLAST58
Domaini1045 – 1084PLACPROSITE-ProRule annotationAdd BLAST40

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni702 – 779SpacerAdd BLAST78

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi199 – 206Cysteine switchBy similarity8

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi60 – 120Arg-richAdd BLAST61
Compositional biasi599 – 701Cys-richAdd BLAST103

Domaini

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.

Sequence similaritiesi

Contains 1 disintegrin domain.Curated
Contains 1 peptidase M12B domain.PROSITE-ProRule annotation
Contains 1 PLAC domain.PROSITE-ProRule annotation
Contains 5 TSP type-1 domains.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, Signal

Phylogenomic databases

eggNOGiKOG3538. Eukaryota.
ENOG410XPKZ. LUCA.
GeneTreeiENSGT00760000118880.
HOGENOMiHOG000004800.
HOVERGENiHBG050621.
InParanoidiQ8TE56.
KOiK08631.
OMAiQGKCDAS.
OrthoDBiEOG091G14M8.
PhylomeDBiQ8TE56.
TreeFamiTF313537.

Family and domain databases

Gene3Di3.40.390.10. 1 hit.
InterProiIPR006586. ADAM_Cys-rich.
IPR010294. ADAM_spacer1.
IPR024079. MetalloPept_cat_dom.
IPR001590. Peptidase_M12B.
IPR013273. Peptidase_M12B_ADAM-TS.
IPR002870. Peptidase_M12B_N.
IPR010909. PLAC.
IPR000884. TSP1_rpt.
IPR007087. Znf_C2H2.
[Graphical view]
PfamiPF05986. ADAM_spacer1. 1 hit.
PF01562. Pep_M12B_propep. 1 hit.
PF01421. Reprolysin. 1 hit.
PF00090. TSP_1. 4 hits.
[Graphical view]
PRINTSiPR01857. ADAMTSFAMILY.
SMARTiSM00608. ACR. 1 hit.
SM00209. TSP1. 5 hits.
[Graphical view]
SUPFAMiSSF82895. SSF82895. 5 hits.
PROSITEiPS50215. ADAM_MEPRO. 1 hit.
PS50900. PLAC. 1 hit.
PS50092. TSP1. 5 hits.
PS00142. ZINC_PROTEASE. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Note: Additional isoforms may exist.
Isoform 1 (identifier: Q8TE56-1) [UniParc]FASTAAdd to basket
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.

« Hide

        10         20         30         40         50
MCDGALLPPL VLPVLLLLVW GLDPGTAVGD AAADVEVVLP WRVRPDDVHL
60 70 80 90 100
PPLPAAPGPR RRRRPRTPPA APRARPGERA LLLHLPAFGR DLYLQLRRDL
110 120 130 140 150
RFLSRGFEVE EAGAARRRGR PAELCFYSGR VLGHPGSLVS LSACGAAGGL
160 170 180 190 200
VGLIQLGQEQ VLIQPLNNSQ GPFSGREHLI RRKWSLTPSP SAEAQRPEQL
210 220 230 240 250
CKVLTEKKKP TWGRPSRDWR ERRNAIRLTS EHTVETLVVA DADMVQYHGA
260 270 280 290 300
EAAQRFILTV MNMVYNMFQH QSLGIKINIQ VTKLVLLRQR PAKLSIGHHG
310 320 330 340 350
ERSLESFCHW QNEEYGGARY LGNNQVPGGK DDPPLVDAAV FVTRTDFCVH
360 370 380 390 400
KDEPCDTVGI AYLGGVCSAK RKCVLAEDNG LNLAFTIAHE LGHNLGMNHD
410 420 430 440 450
DDHSSCAGRS HIMSGEWVKG RNPSDLSWSS CSRDDLENFL KSKVSTCLLV
460 470 480 490 500
TDPRSQHTVR LPHKLPGMHY SANEQCQILF GMNATFCRNM EHLMCAGLWC
510 520 530 540 550
LVEGDTSCKT KLDPPLDGTE CGADKWCRAG ECVSKTPIPE HVDGDWSPWG
560 570 580 590 600
AWSMCSRTCG TGARFRQRKC DNPPPGPGGT HCPGASVEHA VCENLPCPKG
610 620 630 640 650
LPSFRDQQCQ AHDRLSPKKK GLLTAVVVDD KPCELYCSPL GKESPLLVAD
660 670 680 690 700
RVLDGTPCGP YETDLCVHGK CQKIGCDGII GSAAKEDRCG VCSGDGKTCH
710 720 730 740 750
LVKGDFSHAR GTALKDSGKG SINSDWKIEL PGEFQIAGTT VRYVRRGLWE
760 770 780 790 800
KISAKGPTKL PLHLMVLLFH DQDYGIHYEY TVPVNRTAEN QSEPEKPQDS
810 820 830 840 850
LFIWTHSGWE GCSVQCGGGE RRTIVSCTRI VNKTTTLVND SDCPQASRPE
860 870 880 890 900
PQVRRCNLHP CQSRWVAGPW SPCSATCEKG FQHREVTCVY QLQNGTHVAT
910 920 930 940 950
RPLYCPGPRP AAVQSCEGQD CLSIWEASEW SQCSASCGKG VWKRTVACTN
960 970 980 990 1000
SQGKCDASTR PRAEEACEDY SGCYEWKTGD WSTCSSTCGK GLQSRVVQCM
1010 1020 1030 1040 1050
HKVTGRHGSE CPALSKPAPY RQCYQEVCND RINANTITSP RLAALTYKCT
1060 1070 1080 1090
RDQWTVYCRV IREKNLCQDM RWYQRCCQTC RDFYANKMRQ PPPNS
Length:1,095
Mass (Da):121,127
Last modified:May 18, 2010 - v2
Checksum:iA5D7A40484754D5D
GO
Isoform 2 (identifier: Q8TE56-2) [UniParc]FASTAAdd to basket
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.
Show »
Length:502
Mass (Da):54,757
Checksum:i6CABF495FDC4AE21
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti702V → A in BAD18500 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_057081216S → L.1 PublicationCorresponds to variant rs7496668dbSNPEnsembl.1
Natural variantiVAR_057082482M → T.1 PublicationCorresponds to variant rs28567966dbSNPEnsembl.1
Natural variantiVAR_064041566R → T.1 Publication1
Natural variantiVAR_0603171094N → S.2 PublicationsCorresponds to variant rs2573652dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0403311 – 243Missing in isoform 2. 1 PublicationAdd BLAST243
Alternative sequenceiVSP_040332713 – 745ALKDS…VRYVR → GYIEAAVIPAGARRIRVVED KPAHSFLGKTQMT in isoform 2. 1 PublicationAdd BLAST33
Alternative sequenceiVSP_040333746 – 1095Missing in isoform 2. 1 PublicationAdd BLAST350

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS10383.1. [Q8TE56-1]
RefSeqiNP_620688.2. NM_139057.3. [Q8TE56-1]
XP_016877473.1. XM_017021984.1. [Q8TE56-2]
UniGeneiHs.513200.

Genome annotation databases

EnsembliENST00000268070; ENSP00000268070; ENSG00000140470. [Q8TE56-1]
GeneIDi170691.
KEGGihsa:170691.
UCSCiuc002bvv.2. human. [Q8TE56-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS10383.1. [Q8TE56-1]
RefSeqiNP_620688.2. NM_139057.3. [Q8TE56-1]
XP_016877473.1. XM_017021984.1. [Q8TE56-2]
UniGeneiHs.513200.

3D structure databases

ProteinModelPortaliQ8TE56.
SMRiQ8TE56.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi128083. 1 interactor.
STRINGi9606.ENSP00000268070.

Protein family/group databases

MEROPSiM12.027.

PTM databases

iPTMnetiQ8TE56.
PhosphoSitePlusiQ8TE56.

Polymorphism and mutation databases

BioMutaiADAMTS17.
DMDMi296434401.

Proteomic databases

PaxDbiQ8TE56.
PeptideAtlasiQ8TE56.
PRIDEiQ8TE56.

Protocols and materials databases

DNASUi170691.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000268070; ENSP00000268070; ENSG00000140470. [Q8TE56-1]
GeneIDi170691.
KEGGihsa:170691.
UCSCiuc002bvv.2. human. [Q8TE56-1]

Organism-specific databases

CTDi170691.
DisGeNETi170691.
GeneCardsiADAMTS17.
H-InvDBHIX0012615.
HGNCiHGNC:17109. ADAMTS17.
MalaCardsiADAMTS17.
MIMi607511. gene.
613195. phenotype.
neXtProtiNX_Q8TE56.
OpenTargetsiENSG00000140470.
Orphaneti363992. Ichthyosis-short stature-brachydactyly-microspherophakia syndrome.
PharmGKBiPA24543.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3538. Eukaryota.
ENOG410XPKZ. LUCA.
GeneTreeiENSGT00760000118880.
HOGENOMiHOG000004800.
HOVERGENiHBG050621.
InParanoidiQ8TE56.
KOiK08631.
OMAiQGKCDAS.
OrthoDBiEOG091G14M8.
PhylomeDBiQ8TE56.
TreeFamiTF313537.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000140470-MONOMER.
ReactomeiR-HSA-5083635. Defective B3GALTL causes Peters-plus syndrome (PpS).
R-HSA-5173214. O-glycosylation of TSR domain-containing proteins.

Miscellaneous databases

GenomeRNAii170691.
PROiQ8TE56.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000140470.
CleanExiHS_ADAMTS17.
ExpressionAtlasiQ8TE56. baseline and differential.
GenevisibleiQ8TE56. HS.

Family and domain databases

Gene3Di3.40.390.10. 1 hit.
InterProiIPR006586. ADAM_Cys-rich.
IPR010294. ADAM_spacer1.
IPR024079. MetalloPept_cat_dom.
IPR001590. Peptidase_M12B.
IPR013273. Peptidase_M12B_ADAM-TS.
IPR002870. Peptidase_M12B_N.
IPR010909. PLAC.
IPR000884. TSP1_rpt.
IPR007087. Znf_C2H2.
[Graphical view]
PfamiPF05986. ADAM_spacer1. 1 hit.
PF01562. Pep_M12B_propep. 1 hit.
PF01421. Reprolysin. 1 hit.
PF00090. TSP_1. 4 hits.
[Graphical view]
PRINTSiPR01857. ADAMTSFAMILY.
SMARTiSM00608. ACR. 1 hit.
SM00209. TSP1. 5 hits.
[Graphical view]
SUPFAMiSSF82895. SSF82895. 5 hits.
PROSITEiPS50215. ADAM_MEPRO. 1 hit.
PS50900. PLAC. 1 hit.
PS50092. TSP1. 5 hits.
PS00142. ZINC_PROTEASE. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiATS17_HUMAN
AccessioniPrimary (citable) accession number: Q8TE56
Secondary accession number(s): Q2I7G4, Q6ZN75
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 28, 2003
Last sequence update: May 18, 2010
Last modified: November 2, 2016
This is version 137 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 15
    Human chromosome 15: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Peptidase families
    Classification of peptidase families and list of entries
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.