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UniProtKB - O95450 (ATS2_HUMAN)

Protein

A disintegrin and metalloproteinase with thrombospondin motifs 2

Gene

ADAMTS2

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

Functioni

Cleaves the propeptides of type I and II collagen prior to fibril assembly. Does not act on type III collagen. May also play a role in development that is independent of its role in collagen biosynthesis.

Caution

Has sometimes been referred to as ADAMTS3.Curated

Catalytic activityi

Cleaves the N-propeptide of collagen chain alpha-1(I) at Pro-|-Gln and of alpha-1(II) and alpha-2(I) at Ala-|-Gln.

Cofactori

Zn2+By similarityNote: Binds 1 zinc ion per subunit.By similarity

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi408Zinc; catalyticPROSITE-ProRule annotation1
Active sitei409PROSITE-ProRule annotation1
Metal bindingi412Zinc; catalyticPROSITE-ProRule annotation1
Metal bindingi418Zinc; catalyticPROSITE-ProRule annotation1

GO - Molecular functioni

  • metalloendopeptidase activity Source: Reactome
  • metallopeptidase activity Source: ProtInc
  • zinc ion binding Source: InterPro
View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionHydrolase, Metalloprotease, Protease
Biological processCollagen degradation
LigandMetal-binding, Zinc

Enzyme and pathway databases

ReactomeiR-HSA-1650814 Collagen biosynthesis and modifying enzymes
R-HSA-5083635 Defective B3GALTL causes Peters-plus syndrome (PpS)
R-HSA-5173214 O-glycosylation of TSR domain-containing proteins

Protein family/group databases

MEROPSiM12.301

Names & Taxonomyi

Protein namesi
Recommended name:
A disintegrin and metalloproteinase with thrombospondin motifs 2 (EC:3.4.24.14)
Short name:
ADAM-TS 2
Short name:
ADAM-TS2
Short name:
ADAMTS-2
Alternative name(s):
Procollagen I N-proteinase
Short name:
PC I-NP
Procollagen I/II amino propeptide-processing enzyme
Procollagen N-endopeptidase
Short name:
pNPI
Gene namesi
Name:ADAMTS2
Synonyms:PCINP, PCPNI
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

EuPathDBiHostDB:ENSG00000087116.13
HGNCiHGNC:218 ADAMTS2
MIMi604539 gene
neXtProtiNX_O95450

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

Ehlers-Danlos syndrome, dermatosparaxis type (EDSDERMS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. EDSDERMS is an autosomal recessive form characterized by extreme skin fragility and easy bruising, large fontanels, blue sclerae, puffy eyelids, micrognathia, umbilical hernia, and short fingers. Joint hypermobility becomes more important with age.
See also OMIM:225410

Keywords - Diseasei

Ehlers-Danlos syndrome

Organism-specific databases

DisGeNETi9509
MalaCardsiADAMTS2
MIMi225410 phenotype
OpenTargetsiENSG00000087116
Orphaneti1901 Ehlers-Danlos syndrome, dermatosparaxis type
PharmGKBiPA24546

Polymorphism and mutation databases

BioMutaiADAMTS2

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 29Sequence analysisAdd BLAST29
PropeptideiPRO_000002915830 – 253By similarityAdd BLAST224
ChainiPRO_0000029159254 – 1211A disintegrin and metalloproteinase with thrombospondin motifs 2Add BLAST958

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi112N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi251N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi343 ↔ 392By similarity
Disulfide bondi386 ↔ 465By similarity
Disulfide bondi425 ↔ 451By similarity
Disulfide bondi492 ↔ 517By similarity
Disulfide bondi503 ↔ 526By similarity
Disulfide bondi512 ↔ 545By similarity
Disulfide bondi539 ↔ 550By similarity
Disulfide bondi573 ↔ 610By similarity
Disulfide bondi577 ↔ 615By similarity
Disulfide bondi588 ↔ 600By similarity
Glycosylationi949N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi987 ↔ 1023By similarity
Disulfide bondi991 ↔ 1028By similarity
Glycosylationi993N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi1002 ↔ 1012By similarity
Glycosylationi1031N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1098N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1145N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1150N-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

Disulfide bond, Glycoprotein, Zymogen

Proteomic databases

PaxDbiO95450
PeptideAtlasiO95450
PRIDEiO95450
ProteomicsDBi50883
50884 [O95450-2]

PTM databases

iPTMnetiO95450
PhosphoSitePlusiO95450

Expressioni

Tissue specificityi

Expressed at high level in skin, bone, tendon and aorta and at low levels in thymus and brain.

Gene expression databases

BgeeiENSG00000087116 Expressed in 166 organ(s), highest expression level in female gonad
CleanExiHS_ADAMTS2
ExpressionAtlasiO95450 baseline and differential
GenevisibleiO95450 HS

Organism-specific databases

HPAiHPA028444

Interactioni

Subunit structurei

May belong to a multimeric complex. Binds specifically to collagen type XIV (By similarity).By similarity

Protein-protein interaction databases

BioGridi114887, 26 interactors
IntActiO95450, 1 interactor
STRINGi9606.ENSP00000251582

Structurei

3D structure databases

ProteinModelPortaliO95450
SMRiO95450
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini266 – 470Peptidase M12BPROSITE-ProRule annotationAdd BLAST205
Domaini480 – 560DisintegrinAdd BLAST81
Domaini561 – 616TSP type-1 1PROSITE-ProRule annotationAdd BLAST56
Domaini854 – 912TSP type-1 2PROSITE-ProRule annotationAdd BLAST59
Domaini914 – 971TSP type-1 3PROSITE-ProRule annotationAdd BLAST58
Domaini975 – 1029TSP type-1 4PROSITE-ProRule annotationAdd BLAST55
Domaini1059 – 1097PLACPROSITE-ProRule annotationAdd BLAST39

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni723 – 851SpacerAdd BLAST129

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi691 – 693Cell attachment siteSequence analysis3

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi40 – 43Poly-Ala4
Compositional biasi185 – 188Poly-Glu4
Compositional biasi618 – 722Cys-richAdd BLAST105

Domaini

The spacer domain and the TSP type-1 domains are important for a tight interaction with the extracellular matrix.

Keywords - Domaini

Repeat, Signal

Phylogenomic databases

eggNOGiENOG410INDA Eukaryota
ENOG410XSRH LUCA
GeneTreeiENSGT00900000140815
HOGENOMiHOG000034222
HOVERGENiHBG004314
InParanoidiO95450
KOiK08618
OMAiCHLYCES
OrthoDBiEOG091G0790
PhylomeDBiO95450
TreeFamiTF313537

Family and domain databases

Gene3Di2.20.100.10, 4 hits
3.40.390.10, 1 hit
InterProiView protein in InterPro
IPR010294 ADAM_spacer1
IPR013273 ADAMTS/ADAMTS-like
IPR024079 MetalloPept_cat_dom_sf
IPR013275 Pept_M12B_ADAM-TS2
IPR001590 Peptidase_M12B
IPR002870 Peptidase_M12B_N
IPR010909 PLAC
IPR000884 TSP1_rpt
IPR036383 TSP1_rpt_sf
PfamiView protein in Pfam
PF05986 ADAM_spacer1, 1 hit
PF01562 Pep_M12B_propep, 1 hit
PF01421 Reprolysin, 1 hit
PF00090 TSP_1, 4 hits
PRINTSiPR01859 ADAMTS2
PR01857 ADAMTSFAMILY
SMARTiView protein in SMART
SM00209 TSP1, 4 hits
SUPFAMiSSF82895 SSF82895, 4 hits
PROSITEiView protein in PROSITE
PS50215 ADAM_MEPRO, 1 hit
PS50900 PLAC, 1 hit
PS50092 TSP1, 4 hits

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

This entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform LpNPI (identifier: O95450-1) [UniParc]FASTAAdd to basket

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
MDPPAGAARR LLCPALLLLL LLLPPPLLPP PPPPANARLA AAADPPGGPL 
        60         70         80         90        100
GHGAERILAV PVRTDAQGRL VSHVVSAATS RAGVRARRAA PVRTPSFPGG 
       110        120        130        140        150
NEEEPGSHLF YNVTVFGRDL HLRLRPNARL VAPGATMEWQ GEKGTTRVEP 
       160        170        180        190        200
LLGSCLYVGD VAGLAEASSV ALSNCDGLAG LIRMEEEEFF IEPLEKGLAA 
       210        220        230        240        250
QEAEQGRVHV VYRRPPTSPP LGGPQALDTG ASLDSLDSLS RALGVLEEHA 
       260        270        280        290        300
NSSRRRARRH AADDDYNIEV LLGVDDSVVQ FHGKEHVQKY LLTLMNIVNE 
       310        320        330        340        350
IYHDESLGAH INVVLVRIIL LSYGKSMSLI EIGNPSQSLE NVCRWAYLQQ 
       360        370        380        390        400
KPDTGHDEYH DHAIFLTRQD FGPSGMQGYA PVTGMCHPVR SCTLNHEDGF 
       410        420        430        440        450
SSAFVVAHET GHVLGMEHDG QGNRCGDEVR LGSIMAPLVQ AAFHRFHWSR 
       460        470        480        490        500
CSQQELSRYL HSYDCLLDDP FAHDWPALPQ LPGLHYSMNE QCRFDFGLGY 
       510        520        530        540        550
MMCTAFRTFD PCKQLWCSHP DNPYFCKTKK GPPLDGTMCA PGKHCFKGHC 
       560        570        580        590        600
IWLTPDILKR DGSWGAWSPF GSCSRTCGTG VKFRTRQCDN PHPANGGRTC 
       610        620        630        640        650
SGLAYDFQLC SRQDCPDSLA DFREEQCRQW DLYFEHGDAQ HHWLPHEHRD 
       660        670        680        690        700
AKERCHLYCE SRETGEVVSM KRMVHDGTRC SYKDAFSLCV RGDCRKVGCD 
       710        720        730        740        750
GVIGSSKQED KCGVCGGDNS HCKVVKGTFT RSPKKHGYIK MFEIPAGARH 
       760        770        780        790        800
LLIQEVDATS HHLAVKNLET GKFILNEEND VDASSKTFIA MGVEWEYRDE 
       810        820        830        840        850
DGRETLQTMG PLHGTITVLV IPVGDTRVSL TYKYMIHEDS LNVDDNNVLE 
       860        870        880        890        900
EDSVVYEWAL KKWSPCSKPC GGGSQFTKYG CRRRLDHKMV HRGFCAALSK 
       910        920        930        940        950
PKAIRRACNP QECSQPVWVT GEWEPCSQTC GRTGMQVRSV RCIQPLHDNT 
       960        970        980        990       1000
TRSVHAKHCN DARPESRRAC SRELCPGRWR AGPWSQCSVT CGNGTQERPV 
      1010       1020       1030       1040       1050
LCRTADDSFG ICQEERPETA RTCRLGPCPR NISDPSKKSY VVQWLSRPDP 
      1060       1070       1080       1090       1100
DSPIRKISSK GHCQGDKSIF CRMEVLSRYC SIPGYNKLCC KSCNLYNNLT 
      1110       1120       1130       1140       1150
NVEGRIEPPP GKHNDIDVFM PTLPVPTVAM EVRPSPSTPL EVPLNASSTN 
      1160       1170       1180       1190       1200
ATEDHPETNA VDEPYKIHGL EDEVQPPNLI PRRPSPYEKT RNQRIQELID 
      1210 
EMRKKEMLGK F
Length:1,211
Mass (Da):134,755
Last modified:December 16, 2008 - v2
Checksum:i6C4F2C2D46A1F925
GO
Isoform SpNPI (identifier: O95450-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     544-566: HCFKGHCIWLTPDILKRDGSWGA → FRPGAVAHACYPSTLGGQGRWIA
     567-1211: Missing.

Note: Has no significant N-procollagen peptidase activity.
Show »
Length:566
Mass (Da):61,756
Checksum:i4D0D641B94307BA2
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A1B0GTY3A0A1B0GTY3_HUMAN
A disintegrin and metalloproteinase...
ADAMTS2
106Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti1001L → P in CAA05880 (PubMed:10417273).Curated1
Sequence conflicti1089C → S in CAA05880 (PubMed:10417273).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04792774V → M. Corresponds to variant dbSNP:rs2271211EnsemblClinVar.1
Natural variantiVAR_047928241R → H. Corresponds to variant dbSNP:rs11750821EnsemblClinVar.1
Natural variantiVAR_020058245V → I. Corresponds to variant dbSNP:rs398829EnsemblClinVar.1
Natural variantiVAR_047929331E → K. Corresponds to variant dbSNP:rs17667857EnsemblClinVar.1
Natural variantiVAR_047930665G → R. Corresponds to variant dbSNP:rs35372714EnsemblClinVar.1
Natural variantiVAR_047931827R → Q. Corresponds to variant dbSNP:rs35445112EnsemblClinVar.1
Natural variantiVAR_0200591177P → S. Corresponds to variant dbSNP:rs1054480EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_005497544 – 566HCFKG…GSWGA → FRPGAVAHACYPSTLGGQGR WIA in isoform SpNPI. 1 PublicationAdd BLAST23
Alternative sequenceiVSP_005498567 – 1211Missing in isoform SpNPI. 1 PublicationAdd BLAST645

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ003125 mRNA Translation: CAA05880.1
AC008544 Genomic DNA No translation available.
AC010216 Genomic DNA No translation available.
AC109479 Genomic DNA No translation available.
CCDSiCCDS34311.1 [O95450-2]
CCDS4444.1 [O95450-1]
RefSeqiNP_055059.2, NM_014244.4 [O95450-1]
NP_067610.1, NM_021599.3 [O95450-2]
UniGeneiHs.23871

Genome annotation databases

EnsembliENST00000251582; ENSP00000251582; ENSG00000087116 [O95450-1]
ENST00000274609; ENSP00000274609; ENSG00000087116 [O95450-2]
ENST00000639107; ENSP00000492365; ENSG00000283802 [O95450-2]
ENST00000639986; ENSP00000492346; ENSG00000283802 [O95450-1]
GeneIDi9509
KEGGihsa:9509
UCSCiuc003mjw.3 human [O95450-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ003125 mRNA Translation: CAA05880.1
AC008544 Genomic DNA No translation available.
AC010216 Genomic DNA No translation available.
AC109479 Genomic DNA No translation available.
CCDSiCCDS34311.1 [O95450-2]
CCDS4444.1 [O95450-1]
RefSeqiNP_055059.2, NM_014244.4 [O95450-1]
NP_067610.1, NM_021599.3 [O95450-2]
UniGeneiHs.23871

3D structure databases

ProteinModelPortaliO95450
SMRiO95450
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114887, 26 interactors
IntActiO95450, 1 interactor
STRINGi9606.ENSP00000251582

Protein family/group databases

MEROPSiM12.301

PTM databases

iPTMnetiO95450
PhosphoSitePlusiO95450

Polymorphism and mutation databases

BioMutaiADAMTS2

Proteomic databases

PaxDbiO95450
PeptideAtlasiO95450
PRIDEiO95450
ProteomicsDBi50883
50884 [O95450-2]

Protocols and materials databases

DNASUi9509
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000251582; ENSP00000251582; ENSG00000087116 [O95450-1]
ENST00000274609; ENSP00000274609; ENSG00000087116 [O95450-2]
ENST00000639107; ENSP00000492365; ENSG00000283802 [O95450-2]
ENST00000639986; ENSP00000492346; ENSG00000283802 [O95450-1]
GeneIDi9509
KEGGihsa:9509
UCSCiuc003mjw.3 human [O95450-1]

Organism-specific databases

CTDi9509
DisGeNETi9509
EuPathDBiHostDB:ENSG00000087116.13
GeneCardsiADAMTS2
HGNCiHGNC:218 ADAMTS2
HPAiHPA028444
MalaCardsiADAMTS2
MIMi225410 phenotype
604539 gene
neXtProtiNX_O95450
OpenTargetsiENSG00000087116
Orphaneti1901 Ehlers-Danlos syndrome, dermatosparaxis type
PharmGKBiPA24546
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410INDA Eukaryota
ENOG410XSRH LUCA
GeneTreeiENSGT00900000140815
HOGENOMiHOG000034222
HOVERGENiHBG004314
InParanoidiO95450
KOiK08618
OMAiCHLYCES
OrthoDBiEOG091G0790
PhylomeDBiO95450
TreeFamiTF313537

Enzyme and pathway databases

ReactomeiR-HSA-1650814 Collagen biosynthesis and modifying enzymes
R-HSA-5083635 Defective B3GALTL causes Peters-plus syndrome (PpS)
R-HSA-5173214 O-glycosylation of TSR domain-containing proteins

Miscellaneous databases

ChiTaRSiADAMTS2 human
GeneWikiiADAMTS2
GenomeRNAii9509
PROiPR:O95450
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000087116 Expressed in 166 organ(s), highest expression level in female gonad
CleanExiHS_ADAMTS2
ExpressionAtlasiO95450 baseline and differential
GenevisibleiO95450 HS

Family and domain databases

Gene3Di2.20.100.10, 4 hits
3.40.390.10, 1 hit
InterProiView protein in InterPro
IPR010294 ADAM_spacer1
IPR013273 ADAMTS/ADAMTS-like
IPR024079 MetalloPept_cat_dom_sf
IPR013275 Pept_M12B_ADAM-TS2
IPR001590 Peptidase_M12B
IPR002870 Peptidase_M12B_N
IPR010909 PLAC
IPR000884 TSP1_rpt
IPR036383 TSP1_rpt_sf
PfamiView protein in Pfam
PF05986 ADAM_spacer1, 1 hit
PF01562 Pep_M12B_propep, 1 hit
PF01421 Reprolysin, 1 hit
PF00090 TSP_1, 4 hits
PRINTSiPR01859 ADAMTS2
PR01857 ADAMTSFAMILY
SMARTiView protein in SMART
SM00209 TSP1, 4 hits
SUPFAMiSSF82895 SSF82895, 4 hits
PROSITEiView protein in PROSITE
PS50215 ADAM_MEPRO, 1 hit
PS50900 PLAC, 1 hit
PS50092 TSP1, 4 hits
ProtoNetiSearch...

Entry informationi

Entry nameiATS2_HUMAN
AccessioniPrimary (citable) accession number: O95450
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: December 16, 2008
Last modified: November 7, 2018
This is version 189 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 5
    Human chromosome 5: entries, gene names and cross-references to MIM
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