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Q8TE56

- ATS17_HUMAN

UniProt

Q8TE56 - ATS17_HUMAN

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Protein

A disintegrin and metalloproteinase with thrombospondin motifs 17

Gene

ADAMTS17

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

Functioni

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Metal bindingi201 – 2011Zinc; in inhibited formBy similarity
Metal bindingi389 – 3891Zinc; catalyticBy similarity
Active sitei390 – 3901PROSITE-ProRule annotation
Metal bindingi393 – 3931Zinc; catalyticBy similarity
Metal bindingi399 – 3991Zinc; catalyticBy similarity

GO - Molecular functioni

  1. metalloendopeptidase activity Source: InterPro
  2. zinc ion binding Source: InterPro
Complete GO annotation...

Keywords - Molecular functioni

Hydrolase, Metalloprotease, Protease

Keywords - Ligandi

Metal-binding, Zinc

Enzyme and pathway databases

ReactomeiREACT_200626. 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
ProteomesiUP000005640: Chromosome 15

Organism-specific databases

HGNCiHGNC:17109. ADAMTS17.

Subcellular locationi

GO - Cellular componenti

  1. proteinaceous extracellular matrix Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Extracellular matrix, Secreted

Pathology & Biotechi

Involvement in diseasei

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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.

Keywords - Diseasei

Deafness, Dwarfism

Organism-specific databases

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

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2727Sequence AnalysisAdd
BLAST
Propeptidei28 – 223196By similarityPRO_0000029198Add
BLAST
Chaini224 – 1095872A disintegrin and metalloproteinase with thrombospondin motifs 17PRO_0000029199Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi167 – 1671N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi308 ↔ 373By similarity
Disulfide bondi348 ↔ 355By similarity
Disulfide bondi367 ↔ 447By similarity
Disulfide bondi406 ↔ 431By similarity
Disulfide bondi476 ↔ 500By similarity
Glycosylationi483 – 4831N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi487 ↔ 508By similarity
Disulfide bondi495 ↔ 527By similarity
Disulfide bondi521 ↔ 532By similarity
Disulfide bondi555 ↔ 592By similarity
Disulfide bondi559 ↔ 597By similarity
Disulfide bondi570 ↔ 582By similarity
Glycosylationi785 – 7851N-linked (GlcNAc...)Sequence Analysis
Glycosylationi790 – 7901N-linked (GlcNAc...)Sequence Analysis
Glycosylationi832 – 8321N-linked (GlcNAc...)Sequence Analysis
Glycosylationi839 – 8391N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi873 ↔ 916By similarity
Disulfide bondi877 ↔ 921By similarity
Disulfide bondi888 ↔ 905By similarity
Glycosylationi894 – 8941N-linked (GlcNAc...)Sequence Analysis

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.
PRIDEiQ8TE56.

PTM databases

PhosphoSiteiQ8TE56.

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

BgeeiQ8TE56.
CleanExiHS_ADAMTS17.
ExpressionAtlasiQ8TE56. baseline and differential.
GenevestigatoriQ8TE56.

Interactioni

Protein-protein interaction databases

BioGridi128083. 1 interaction.
STRINGi9606.ENSP00000268070.

Structurei

3D structure databases

ProteinModelPortaliQ8TE56.
SMRiQ8TE56. Positions 234-711.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini232 – 452221Peptidase M12BPROSITE-ProRule annotationAdd
BLAST
Domaini453 – 54290DisintegrinAdd
BLAST
Domaini543 – 59856TSP type-1 1PROSITE-ProRule annotationAdd
BLAST
Domaini800 – 86061TSP type-1 2PROSITE-ProRule annotationAdd
BLAST
Domaini861 – 92262TSP type-1 3PROSITE-ProRule annotationAdd
BLAST
Domaini925 – 96844TSP type-1 4PROSITE-ProRule annotationAdd
BLAST
Domaini972 – 102958TSP type-1 5PROSITE-ProRule annotationAdd
BLAST
Domaini1045 – 108440PLACPROSITE-ProRule annotationAdd
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni702 – 77978SpacerAdd
BLAST

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi199 – 2068Cysteine switchBy similarity

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi60 – 12061Arg-richAdd
BLAST
Compositional biasi599 – 701103Cys-richAdd
BLAST

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

eggNOGiNOG259740.
GeneTreeiENSGT00760000118880.
HOGENOMiHOG000004800.
HOVERGENiHBG050621.
InParanoidiQ8TE56.
KOiK08631.
OMAiASEWSQC.
OrthoDBiEOG722J7P.
PhylomeDBiQ8TE56.
TreeFamiTF313537.

Family and domain databases

Gene3Di3.40.390.10. 1 hit.
InterProiIPR010294. 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]
PfamiPF05986. 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]
PRINTSiPR01857. ADAMTSFAMILY.
SMARTiSM00209. 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. Align

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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti702 – 7021V → A in BAD18500. (PubMed:14702039)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti216 – 2161S → L.1 Publication
Corresponds to variant rs7496668 [ dbSNP | Ensembl ].
VAR_057081
Natural varianti482 – 4821M → T.1 Publication
Corresponds to variant rs28567966 [ dbSNP | Ensembl ].
VAR_057082
Natural varianti566 – 5661R → T.1 Publication
VAR_064041
Natural varianti1094 – 10941N → S.2 Publications
Corresponds to variant rs2573652 [ dbSNP | Ensembl ].
VAR_060317

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 243243Missing in isoform 2. 1 PublicationVSP_040331Add
BLAST
Alternative sequencei713 – 74533ALKDS…VRYVR → GYIEAAVIPAGARRIRVVED KPAHSFLGKTQMT in isoform 2. 1 PublicationVSP_040332Add
BLAST
Alternative sequencei746 – 1095350Missing in isoform 2. 1 PublicationVSP_040333Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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_139057.2. [Q8TE56-1]
UniGeneiHs.513200.

Genome annotation databases

EnsembliENST00000268070; ENSP00000268070; ENSG00000140470. [Q8TE56-1]
GeneIDi170691.
KEGGihsa:170691.
UCSCiuc002bvv.1. human. [Q8TE56-1]
uc002bvx.1. human. [Q8TE56-2]

Polymorphism databases

DMDMi296434401.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.
CCDSi CCDS10383.1. [Q8TE56-1 ]
RefSeqi NP_620688.2. NM_139057.2. [Q8TE56-1 ]
UniGenei Hs.513200.

3D structure databases

ProteinModelPortali Q8TE56.
SMRi Q8TE56. Positions 234-711.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 128083. 1 interaction.
STRINGi 9606.ENSP00000268070.

Protein family/group databases

MEROPSi M12.027.

PTM databases

PhosphoSitei Q8TE56.

Polymorphism databases

DMDMi 296434401.

Proteomic databases

PaxDbi Q8TE56.
PRIDEi Q8TE56.

Protocols and materials databases

DNASUi 170691.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000268070 ; ENSP00000268070 ; ENSG00000140470 . [Q8TE56-1 ]
GeneIDi 170691.
KEGGi hsa:170691.
UCSCi uc002bvv.1. human. [Q8TE56-1 ]
uc002bvx.1. human. [Q8TE56-2 ]

Organism-specific databases

CTDi 170691.
GeneCardsi GC15M100511.
H-InvDB HIX0012615.
HGNCi HGNC:17109. ADAMTS17.
MIMi 607511. gene.
613195. phenotype.
neXtProti NX_Q8TE56.
Orphaneti 363992. Ichthyosis-short stature-brachydactyly-microspherophakia syndrome.
PharmGKBi PA24543.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG259740.
GeneTreei ENSGT00760000118880.
HOGENOMi HOG000004800.
HOVERGENi HBG050621.
InParanoidi Q8TE56.
KOi K08631.
OMAi ASEWSQC.
OrthoDBi EOG722J7P.
PhylomeDBi Q8TE56.
TreeFami TF313537.

Enzyme and pathway databases

Reactomei REACT_200626. O-glycosylation of TSR domain-containing proteins.

Miscellaneous databases

ChiTaRSi ADAMTS17. human.
GenomeRNAii 170691.
NextBioi 89106.
PROi Q8TE56.
SOURCEi Search...

Gene expression databases

Bgeei Q8TE56.
CleanExi HS_ADAMTS17.
ExpressionAtlasi Q8TE56. baseline and differential.
Genevestigatori Q8TE56.

Family and domain databases

Gene3Di 3.40.390.10. 1 hit.
InterProi IPR010294. 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 ]
Pfami PF05986. 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 ]
PRINTSi PR01857. ADAMTSFAMILY.
SMARTi SM00209. TSP1. 5 hits.
[Graphical view ]
SUPFAMi SSF82895. SSF82895. 5 hits.
PROSITEi PS50215. ADAM_MEPRO. 1 hit.
PS50900. PLAC. 1 hit.
PS50092. TSP1. 5 hits.
PS00142. ZINC_PROTEASE. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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.
    , 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.

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: October 29, 2014
This is version 119 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

External Data

Dasty 3