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Q8TE60

- ATS18_HUMAN

UniProt

Q8TE60 - ATS18_HUMAN

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Protein

A disintegrin and metalloproteinase with thrombospondin motifs 18

Gene

ADAMTS18

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

Functioni

Cofactori

Binds 1 zinc ion per subunit.By similarity

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Metal bindingi254 – 2541Zinc; in inhibited formBy similarity
Metal bindingi436 – 4361Zinc; catalyticPROSITE-ProRule annotation
Active sitei437 – 4371PROSITE-ProRule annotation
Metal bindingi440 – 4401Zinc; catalyticPROSITE-ProRule annotation
Metal bindingi446 – 4461Zinc; catalyticPROSITE-ProRule annotation

GO - Molecular functioni

  1. metalloendopeptidase activity Source: InterPro
  2. zinc ion binding Source: InterPro

GO - Biological processi

  1. eye development Source: UniProtKB
  2. negative regulation of platelet aggregation Source: MGI
Complete GO annotation...

Keywords - Molecular functioni

Hydrolase, Metalloprotease, Protease

Keywords - Ligandi

Metal-binding, Zinc

Enzyme and pathway databases

ReactomeiREACT_118572. Degradation of the extracellular matrix.
REACT_200626. O-glycosylation of TSR domain-containing proteins.
REACT_201925. Degradation of the extracellular matrix.

Protein family/group databases

MEROPSiM12.028.

Names & Taxonomyi

Protein namesi
Recommended name:
A disintegrin and metalloproteinase with thrombospondin motifs 18 (EC:3.4.24.-)
Short name:
ADAM-TS 18
Short name:
ADAM-TS18
Short name:
ADAMTS-18
Gene namesi
Name:ADAMTS18
Synonyms:ADAMTS21
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 16

Organism-specific databases

HGNCiHGNC:17110. ADAMTS18.

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

Microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) [MIM:615458]: A ocular syndrome characterized by microcornea and myopic chorioretinal atrophy. Microcornea is defined by a corneal diameter inferior to 10 mm in both meridians in an otherwise normal eye. In addition to ocular findings, some patients have telecanthus and posteriorly rotated ears.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti202 – 2021L → P in MMCAT. 1 Publication
VAR_070849
Natural varianti577 – 5771C → W in MMCAT. 1 Publication
VAR_070850

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi615458. phenotype.
Orphaneti369970. Microcornea-myopic chorioretinal atrophy-telecanthus syndrome.
PharmGKBiPA24544.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 4747Sequence AnalysisAdd
BLAST
Propeptidei48 – 284237By similarityPRO_0000029200Add
BLAST
Chaini285 – 1221937A disintegrin and metalloproteinase with thrombospondin motifs 18PRO_0000042163Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi151 – 1511N-linked (GlcNAc...)Sequence Analysis
Glycosylationi190 – 1901N-linked (GlcNAc...)Sequence Analysis
Glycosylationi313 – 3131N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi369 ↔ 420By similarity
Disulfide bondi395 ↔ 402By similarity
Disulfide bondi414 ↔ 493By similarity
Disulfide bondi453 ↔ 477By similarity
Disulfide bondi521 ↔ 546By similarity
Disulfide bondi532 ↔ 553By similarity
Disulfide bondi541 ↔ 572By similarity
Disulfide bondi566 ↔ 577By similarity
Disulfide bondi601 ↔ 638By similarity
Disulfide bondi605 ↔ 643By similarity
Disulfide bondi616 ↔ 628By similarity
Glycosylationi745 – 7451N-linked (GlcNAc...)Sequence Analysis
Glycosylationi838 – 8381N-linked (GlcNAc...)Sequence Analysis
Glycosylationi909 – 9091N-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

PaxDbiQ8TE60.
PRIDEiQ8TE60.

PTM databases

PhosphoSiteiQ8TE60.

Expressioni

Tissue specificityi

Expressed in fetal lung, liver, and kidney and in adult brain, prostate, submaxillary gland, and endothelium.

Gene expression databases

BgeeiQ8TE60.
CleanExiHS_ADAMTS18.
ExpressionAtlasiQ8TE60. baseline and differential.
GenevestigatoriQ8TE60.

Organism-specific databases

HPAiHPA044326.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000282849.

Structurei

3D structure databases

ProteinModelPortaliQ8TE60.
SMRiQ8TE60. Positions 295-813.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini293 – 498206Peptidase M12BPROSITE-ProRule annotationAdd
BLAST
Domaini498 – 57780DisintegrinAdd
BLAST
Domaini589 – 64456TSP type-1 1PROSITE-ProRule annotationAdd
BLAST
Domaini931 – 99060TSP type-1 2PROSITE-ProRule annotationAdd
BLAST
Domaini991 – 104959TSP type-1 3PROSITE-ProRule annotationAdd
BLAST
Domaini1052 – 111665TSP type-1 4PROSITE-ProRule annotationAdd
BLAST
Domaini1123 – 117856TSP type-1 5PROSITE-ProRule annotationAdd
BLAST
Domaini1184 – 122138PLACPROSITE-ProRule annotationAdd
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni750 – 876127SpacerAdd
BLAST

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi252 – 2598Cysteine switchBy similarity

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi644 – 749106Cys-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

eggNOGiNOG237764.
GeneTreeiENSGT00760000118880.
HOGENOMiHOG000004800.
HOVERGENiHBG004315.
InParanoidiQ8TE60.
KOiK08632.
OMAiCPAHPVY.
OrthoDBiEOG73FQKT.
PhylomeDBiQ8TE60.
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.
[Graphical view]
PfamiPF05986. ADAM_spacer1. 1 hit.
PF01562. Pep_M12B_propep. 1 hit.
PF08686. PLAC. 1 hit.
PF01421. Reprolysin. 1 hit.
PF00090. TSP_1. 5 hits.
[Graphical view]
PRINTSiPR01857. ADAMTSFAMILY.
SMARTiSM00209. TSP1. 6 hits.
[Graphical view]
SUPFAMiSSF82895. SSF82895. 5 hits.
PROSITEiPS50215. ADAM_MEPRO. 1 hit.
PS50900. PLAC. 1 hit.
PS50092. TSP1. 5 hits.
[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

Isoform 1 (identifier: Q8TE60-1) [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
MECALLLACA FPAAGSGPPR GLAGLGRVAK ALQLCCLCCA SVAAALASDS
60 70 80 90 100
SSGASGLNDD YVFVTPVEVD SAGSYISHDI LHNGRKKRSA QNARSSLHYR
110 120 130 140 150
FSAFGQELHL ELKPSAILSS HFIVQVLGKD GASETQKPEV QQCFYQGFIR
160 170 180 190 200
NDSSSSVAVS TCAGLSGLIR TRKNEFLISP LPQLLAQEHN YSSPAGHHPH
210 220 230 240 250
VLYKRTAEEK IQRYRGYPGS GRNYPGYSPS HIPHASQSRE TEYHHRRLQK
260 270 280 290 300
QHFCGRRKKY APKPPTEDTY LRFDEYGSSG RPRRSAGKSQ KGLNVETLVV
310 320 330 340 350
ADKKMVEKHG KGNVTTYILT VMNMVSGLFK DGTIGSDINV VVVSLILLEQ
360 370 380 390 400
EPGGLLINHH ADQSLNSFCQ WQSALIGKNG KRHDHAILLT GFDICSWKNE
410 420 430 440 450
PCDTLGFAPI SGMCSKYRSC TINEDTGLGL AFTIAHESGH NFGMIHDGEG
460 470 480 490 500
NPCRKAEGNI MSPTLTGNNG VFSWSSCSRQ YLKKFLSTPQ AGCLVDEPKQ
510 520 530 540 550
AGQYKYPDKL PGQIYDADTQ CKWQFGAKAK LCSLGFVKDI CKSLWCHRVG
560 570 580 590 600
HRCETKFMPA AEGTVCGLSM WCRQGQCVKF GELGPRPIHG QWSAWSKWSE
610 620 630 640 650
CSRTCGGGVK FQERHCNNPK PQYGGLFCPG SSRIYQLCNI NPCNENSLDF
660 670 680 690 700
RAQQCAEYNS KPFRGWFYQW KPYTKVEEED RCKLYCKAEN FEFFFAMSGK
710 720 730 740 750
VKDGTPCSPN KNDVCIDGVC ELVGCDHELG SKAVSDACGV CKGDNSTCKF
760 770 780 790 800
YKGLYLNQHK ANEYYPVVLI PAGARSIEIQ ELQVSSSYLA VRSLSQKYYL
810 820 830 840 850
TGGWSIDWPG EFPFAGTTFE YQRSFNRPER LYAPGPTNET LVFEILMQGK
860 870 880 890 900
NPGIAWKYAL PKVMNGTPPA TKRPAYTWSI VQSECSVSCG GGYINVKAIC
910 920 930 940 950
LRDQNTQVNS SFCSAKTKPV TEPKICNAFS CPAYWMPGEW STCSKACAGG
960 970 980 990 1000
QQSRKIQCVQ KKPFQKEEAV LHSLCPVSTP TQVQACNSHA CPPQWSLGPW
1010 1020 1030 1040 1050
SQCSKTCGRG VRKRELLCKG SAAETLPESQ CTSLPRPELQ EGCVLGRCPK
1060 1070 1080 1090 1100
NSRLQWVASS WSECSATCGL GVRKREMKCS EKGFQGKLIT FPERRCRNIK
1110 1120 1130 1140 1150
KPNLDLEETC NRRACPAHPV YNMVAGWYSL PWQQCTVTCG GGVQTRSVHC
1160 1170 1180 1190 1200
VQQGRPSSSC LLHQKPPVLR ACNTNFCPAP EKREDPSCVD FFNWCHLVPQ
1210 1220
HGVCNHKFYG KQCCKSCTRK I
Length:1,221
Mass (Da):135,167
Last modified:May 18, 2010 - v3
Checksum:i4F662B2D2ABF5CA3
GO
Isoform 2 (identifier: Q8TE60-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1064-1082: CSATCGLGVRKREMKCSEK → VWIRSHCWVRRLRPSWLTQ
     1083-1221: Missing.

Note: No experimental confirmation available.

Show »
Length:1,082
Mass (Da):119,768
Checksum:i5620CE80BDFEEA8E
GO

Sequence cautioni

The sequence CAC83612.1 differs from that shown. Reason: Probable intron retention.
The sequence CAC83612.1 differs from that shown. Reason: Aberrant splicing.
The sequence BAC85503.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti410 – 4101I → T in CAC83612. (PubMed:11867212)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti179 – 1791S → L.2 Publications
Corresponds to variant rs387906972 [ dbSNP | Ensembl ].
VAR_066554
Natural varianti191 – 1911Y → H.1 Publication
Corresponds to variant rs11643211 [ dbSNP | Ensembl ].
VAR_060231
Natural varianti202 – 2021L → P in MMCAT. 1 Publication
VAR_070849
Natural varianti382 – 3821R → K in a colorectal cancer sample; somatic mutation. 1 Publication
VAR_036152
Natural varianti455 – 4551K → T in a colorectal cancer sample; somatic mutation. 1 Publication
VAR_036153
Natural varianti577 – 5771C → W in MMCAT. 1 Publication
VAR_070850
Natural varianti626 – 6261L → I.2 Publications
Corresponds to variant rs11640912 [ dbSNP | Ensembl ].
VAR_060232
Natural varianti769 – 7691L → I.1 Publication
Corresponds to variant rs9930984 [ dbSNP | Ensembl ].
VAR_057083
Natural varianti946 – 9461A → S.1 Publication
Corresponds to variant rs12935394 [ dbSNP | Ensembl ].
VAR_057084
Natural varianti1080 – 10801S → R.1 Publication
Corresponds to variant rs35478105 [ dbSNP | Ensembl ].
VAR_057085
Natural varianti1159 – 11591S → T.
Corresponds to variant rs3743749 [ dbSNP | Ensembl ].
VAR_057086

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1064 – 108219CSATC…KCSEK → VWIRSHCWVRRLRPSWLTQ in isoform 2. 1 PublicationVSP_015776Add
BLAST
Alternative sequencei1083 – 1221139Missing in isoform 2. 1 PublicationVSP_015777Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AJ311903 mRNA. Translation: CAC83612.1. Sequence problems.
AC009139 Genomic DNA. No translation available.
AC010548 Genomic DNA. No translation available.
AC025284 Genomic DNA. No translation available.
BC063283 mRNA. Translation: AAH63283.1.
AK122677 mRNA. Translation: BAC85503.1. Different initiation.
CCDSiCCDS10926.1. [Q8TE60-1]
RefSeqiNP_955387.1. NM_199355.2. [Q8TE60-1]
UniGeneiHs.188746.

Genome annotation databases

EnsembliENST00000282849; ENSP00000282849; ENSG00000140873. [Q8TE60-1]
GeneIDi170692.
KEGGihsa:170692.
UCSCiuc002ffc.4. human. [Q8TE60-1]
uc010chc.1. human. [Q8TE60-2]

Polymorphism databases

DMDMi296439427.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AJ311903 mRNA. Translation: CAC83612.1 . Sequence problems.
AC009139 Genomic DNA. No translation available.
AC010548 Genomic DNA. No translation available.
AC025284 Genomic DNA. No translation available.
BC063283 mRNA. Translation: AAH63283.1 .
AK122677 mRNA. Translation: BAC85503.1 . Different initiation.
CCDSi CCDS10926.1. [Q8TE60-1 ]
RefSeqi NP_955387.1. NM_199355.2. [Q8TE60-1 ]
UniGenei Hs.188746.

3D structure databases

ProteinModelPortali Q8TE60.
SMRi Q8TE60. Positions 295-813.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

STRINGi 9606.ENSP00000282849.

Protein family/group databases

MEROPSi M12.028.

PTM databases

PhosphoSitei Q8TE60.

Polymorphism databases

DMDMi 296439427.

Proteomic databases

PaxDbi Q8TE60.
PRIDEi Q8TE60.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000282849 ; ENSP00000282849 ; ENSG00000140873 . [Q8TE60-1 ]
GeneIDi 170692.
KEGGi hsa:170692.
UCSCi uc002ffc.4. human. [Q8TE60-1 ]
uc010chc.1. human. [Q8TE60-2 ]

Organism-specific databases

CTDi 170692.
GeneCardsi GC16M077316.
H-InvDB HIX0026938.
HGNCi HGNC:17110. ADAMTS18.
HPAi HPA044326.
MIMi 607512. gene.
615458. phenotype.
neXtProti NX_Q8TE60.
Orphaneti 369970. Microcornea-myopic chorioretinal atrophy-telecanthus syndrome.
PharmGKBi PA24544.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG237764.
GeneTreei ENSGT00760000118880.
HOGENOMi HOG000004800.
HOVERGENi HBG004315.
InParanoidi Q8TE60.
KOi K08632.
OMAi CPAHPVY.
OrthoDBi EOG73FQKT.
PhylomeDBi Q8TE60.
TreeFami TF313537.

Enzyme and pathway databases

Reactomei REACT_118572. Degradation of the extracellular matrix.
REACT_200626. O-glycosylation of TSR domain-containing proteins.
REACT_201925. Degradation of the extracellular matrix.

Miscellaneous databases

GenomeRNAii 170692.
NextBioi 89110.
PROi Q8TE60.
SOURCEi Search...

Gene expression databases

Bgeei Q8TE60.
CleanExi HS_ADAMTS18.
ExpressionAtlasi Q8TE60. baseline and differential.
Genevestigatori Q8TE60.

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.
[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. 5 hits.
[Graphical view ]
PRINTSi PR01857. ADAMTSFAMILY.
SMARTi SM00209. TSP1. 6 hits.
[Graphical view ]
SUPFAMi SSF82895. SSF82895. 5 hits.
PROSITEi PS50215. ADAM_MEPRO. 1 hit.
PS50900. PLAC. 1 hit.
PS50092. TSP1. 5 hits.
[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 2), VARIANTS ILE-626 AND SER-946.
  2. "The sequence and analysis of duplication-rich human chromosome 16."
    Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G., Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E., Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J.
    , Buckingham J.M., Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C., Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M., Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M., Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E., Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H., Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y., Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J., Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D., Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S., Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A., Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M., Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H., Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A., Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J., DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J., Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M., Myers R.M., Rubin E.M., Pennacchio L.A.
    Nature 432:988-994(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANTS HIS-191; ILE-626 AND ILE-769.
    Tissue: Placenta.
  4. "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] OF 761-1221 (ISOFORM 1), VARIANT ARG-1080.
    Tissue: Cerebellum.
  5. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
    Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
    Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Leukemic T-cell.
  6. Cited for: VARIANTS [LARGE SCALE ANALYSIS] LYS-382 AND THR-455.
  7. Cited for: VARIANT LEU-179.
  8. "The syndrome of microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) is caused by mutations in ADAMTS18."
    Aldahmesh M.A., Alshammari M.J., Khan A.O., Mohamed J.Y., Alhabib F.A., Alkuraya F.S.
    Hum. Mutat. 34:1195-1199(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS MMCAT PRO-202 AND TRP-577.
  9. Cited for: VARIANT LEU-179, LACK OF INVOLVEMENT IN KNOBLOCH SYNDROME.

Entry informationi

Entry nameiATS18_HUMAN
AccessioniPrimary (citable) accession number: Q8TE60
Secondary accession number(s): Q6P4R5, Q6ZWJ9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 25, 2003
Last sequence update: May 18, 2010
Last modified: October 29, 2014
This is version 119 of the entry and version 3 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 16
    Human chromosome 16: 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