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Protein

A disintegrin and metalloproteinase with thrombospondin motifs 17

Gene

ADAMTS17

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

Keywordsi

Molecular functionHydrolase, Metalloprotease, Protease
LigandMetal-binding, Zinc

Enzyme and pathway databases

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

EuPathDBiHostDB:ENSG00000140470.13
HGNCiHGNC:17109 ADAMTS17
MIMi607511 gene
neXtProtiNX_Q8TE56

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Extracellular matrix, Secreted

Pathology & Biotechi

Involvement in diseasei

Weill-Marchesani syndrome 4 (WMS4)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive syndrome characterized by lenticular myopia, ectopia lentis, glaucoma, spherophakia and short stature. Brachydactyly and decreased joint flexibility are present in some patients.
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...) asparagineSequence analysis1
Disulfide bondi308 ↔ 373By similarity
Disulfide bondi348 ↔ 355By similarity
Disulfide bondi367 ↔ 447By similarity
Disulfide bondi406 ↔ 431By similarity
Disulfide bondi476 ↔ 500By similarity
Glycosylationi483N-linked (GlcNAc...) asparagineSequence 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...) asparagineSequence analysis1
Glycosylationi790N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi832N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi839N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi873 ↔ 916By similarity
Disulfide bondi877 ↔ 921By similarity
Disulfide bondi888 ↔ 905By similarity
Glycosylationi894N-linked (GlcNAc...) asparagineSequence 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-X2-(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
ProteomicsDBi74396
74397 [Q8TE56-2]

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 Expressed in 121 organ(s), highest expression level in right lobe of liver
CleanExiHS_ADAMTS17
ExpressionAtlasiQ8TE56 baseline and differential
GenevisibleiQ8TE56 HS

Organism-specific databases

HPAiHPA062487

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.

Keywords - Domaini

Repeat, Signal

Phylogenomic databases

eggNOGiKOG3538 Eukaryota
ENOG410XPKZ LUCA
GeneTreeiENSGT00900000140815
HOGENOMiHOG000004800
HOVERGENiHBG050621
InParanoidiQ8TE56
KOiK08631
OMAiEEACEDY
OrthoDBiEOG091G14M8
PhylomeDBiQ8TE56
TreeFamiTF313537

Family and domain databases

Gene3Di2.20.100.10, 5 hits
3.40.390.10, 1 hit
InterProiView protein in InterPro
IPR006586 ADAM_Cys-rich
IPR010294 ADAM_spacer1
IPR013273 ADAMTS/ADAMTS-like
IPR024079 MetalloPept_cat_dom_sf
IPR001590 Peptidase_M12B
IPR002870 Peptidase_M12B_N
IPR010909 PLAC
IPR000884 TSP1_rpt
IPR036383 TSP1_rpt_sf
IPR013087 Znf_C2H2_type
PfamiView protein in Pfam
PF05986 ADAM_spacer1, 1 hit
PF01562 Pep_M12B_propep, 1 hit
PF01421 Reprolysin, 1 hit
PF00090 TSP_1, 4 hits
PRINTSiPR01857 ADAMTSFAMILY
SMARTiView protein in SMART
SM00608 ACR, 1 hit
SM00209 TSP1, 5 hits
SUPFAMiSSF82895 SSF82895, 5 hits
PROSITEiView protein in PROSITE
PS50215 ADAM_MEPRO, 1 hit
PS50900 PLAC, 1 hit
PS50092 TSP1, 5 hits
PS00142 ZINC_PROTEASE, 1 hit

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.

This entry has 2 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0YMH1H0YMH1_HUMAN
A disintegrin and metalloproteinase...
ADAMTS17
68Annotation score:
H3BRA9H3BRA9_HUMAN
A disintegrin and metalloproteinase...
ADAMTS17
214Annotation score:
H3BV94H3BV94_HUMAN
A disintegrin and metalloproteinase...
ADAMTS17
120Annotation score:

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 → L1 PublicationCorresponds to variant dbSNP:rs7496668EnsemblClinVar.1
Natural variantiVAR_057082482M → T1 PublicationCorresponds to variant dbSNP:rs28567966EnsemblClinVar.1
Natural variantiVAR_064041566R → T1 Publication1
Natural variantiVAR_0603171094N → S2 PublicationsCorresponds to variant dbSNP:rs2573652EnsemblClinVar.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
ProteomicsDBi74396
74397 [Q8TE56-2]

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
EuPathDBiHostDB:ENSG00000140470.13
GeneCardsiADAMTS17
H-InvDBiHIX0012615
HGNCiHGNC:17109 ADAMTS17
HPAiHPA062487
MalaCardsiADAMTS17
MIMi607511 gene
613195 phenotype
neXtProtiNX_Q8TE56
OpenTargetsiENSG00000140470
Orphaneti363992 Ichthyosis-short stature-brachydactyly-microspherophakia syndrome
PharmGKBiPA24543
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3538 Eukaryota
ENOG410XPKZ LUCA
GeneTreeiENSGT00900000140815
HOGENOMiHOG000004800
HOVERGENiHBG050621
InParanoidiQ8TE56
KOiK08631
OMAiEEACEDY
OrthoDBiEOG091G14M8
PhylomeDBiQ8TE56
TreeFamiTF313537

Enzyme and pathway databases

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

Miscellaneous databases

ChiTaRSiADAMTS17 human
GenomeRNAii170691
PROiPR:Q8TE56
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000140470 Expressed in 121 organ(s), highest expression level in right lobe of liver
CleanExiHS_ADAMTS17
ExpressionAtlasiQ8TE56 baseline and differential
GenevisibleiQ8TE56 HS

Family and domain databases

Gene3Di2.20.100.10, 5 hits
3.40.390.10, 1 hit
InterProiView protein in InterPro
IPR006586 ADAM_Cys-rich
IPR010294 ADAM_spacer1
IPR013273 ADAMTS/ADAMTS-like
IPR024079 MetalloPept_cat_dom_sf
IPR001590 Peptidase_M12B
IPR002870 Peptidase_M12B_N
IPR010909 PLAC
IPR000884 TSP1_rpt
IPR036383 TSP1_rpt_sf
IPR013087 Znf_C2H2_type
PfamiView protein in Pfam
PF05986 ADAM_spacer1, 1 hit
PF01562 Pep_M12B_propep, 1 hit
PF01421 Reprolysin, 1 hit
PF00090 TSP_1, 4 hits
PRINTSiPR01857 ADAMTSFAMILY
SMARTiView protein in SMART
SM00608 ACR, 1 hit
SM00209 TSP1, 5 hits
SUPFAMiSSF82895 SSF82895, 5 hits
PROSITEiView protein in PROSITE
PS50215 ADAM_MEPRO, 1 hit
PS50900 PLAC, 1 hit
PS50092 TSP1, 5 hits
PS00142 ZINC_PROTEASE, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiATS17_HUMAN
AccessioniPrimary (citable) accession number: Q8TE56
Secondary accession number(s): Q2I7G4, Q6ZN75
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 28, 2003
Last sequence update: May 18, 2010
Last modified: November 7, 2018
This is version 149 of the entry and version 2 of the sequence. See 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 entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 15
    Human chromosome 15: entries, gene names and cross-references to MIM
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