P82987 (ATL3_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 74.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: ADAMTS-like protein 3 Short name=ADAMTSL-3 Alternative name(s): Punctin-2 | ||||
| Gene names |
| ||||
| Organism | Homo sapiens (Human) [Reference proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 1691 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is further processed into a mature form. |
| Protein existence | Evidence at transcript level |
General annotation (Comments)
| Subcellular location | Secreted › extracellular space › extracellular matrix Ref.3. |
| Tissue specificity | Expressed in epithelial cells of the colon, fallopian tube, skin, breast, prostate, epididymis, liver, pancreatic islets and bile ducts, as well as by vascular endothelial cells, smooth muscle cells, fibroblasts, cortical and ganglionic neurons and cardiac myocytes. Also expressed by malignant epithelial cells in colon cancer, as well as breast, prostate, renal and skin tumors. Expression is significantly reduced in colon cancer compared to normal colon. Ref.3 Ref.5 |
| Post-translational modification | Glycosylated By similarity. 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. |
| Sequence similarities | Contains 3 Ig-like C2-type (immunoglobulin-like) domains. Contains 1 PLAC domain. Contains 10 TSP type-1 domains. |
| Caution | Although strongly similar to members of the ADAMTS family it lacks the metalloprotease and disintegrin-like domains which are typical of that family. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Extracellular matrix Secreted |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | Repeat Signal |
| PTM | Disulfide bond Glycoprotein |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Cellular_component | proteinaceous extracellular matrix Inferred from electronic annotation. Source: UniProtKB-SubCell |
| Molecular_function | metallopeptidase activity Inferred from electronic annotation. Source: InterPro zinc ion bindingInferred from electronic annotation. Source: InterPro |
| Complete GO annotation... | |
Alternative products
| This entry describes 2 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: P82987-1) 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. | ||||||
| Isoform 2 (identifier: P82987-2) The sequence of this isoform differs from the canonical sequence as follows: 1657-1691: RDCTDTTHYCMFVKHLNLCSLDRYKQRCCQSCQEG → STYTSQTATNKGAASHVKRDKPLEGS |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||||
Molecule processing | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Signal peptide | 1 – 26 | 26 | Potential | ||||||||
| Chain | 27 – 1691 | 1665 | ADAMTS-like protein 3 | PRO_0000249684 | |||||||
Regions | |||||||||||
| Domain | 75 – 124 | 50 | TSP type-1 1 | ||||||||
| Domain | 418 – 468 | 51 | TSP type-1 2 | ||||||||
| Domain | 478 – 535 | 58 | TSP type-1 3 | ||||||||
| Domain | 564 – 626 | 63 | TSP type-1 4 | ||||||||
| Domain | 703 – 760 | 58 | TSP type-1 5 | ||||||||
| Domain | 763 – 818 | 56 | TSP type-1 6 | ||||||||
| Domain | 819 – 881 | 63 | TSP type-1 7 | ||||||||
| Domain | 896 – 992 | 97 | Ig-like C2-type 1 | ||||||||
| Domain | 1185 – 1279 | 95 | Ig-like C2-type 2 | ||||||||
| Domain | 1296 – 1378 | 83 | Ig-like C2-type 3 | ||||||||
| Domain | 1424 – 1482 | 59 | TSP type-1 8 | ||||||||
| Domain | 1483 – 1545 | 63 | TSP type-1 9 | ||||||||
| Domain | 1597 – 1644 | 48 | TSP type-1 10 | ||||||||
| Domain | 1655 – 1691 | 37 | PLAC | ||||||||
Amino acid modifications | |||||||||||
| Glycosylation | 293 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 681 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 797 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 915 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 927 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 1102 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 1191 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 1292 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 1316 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 1330 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 1343 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 1349 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 1356 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 1432 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 1516 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 1574 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 1591 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Disulfide bond | 87 ↔ 118 | By similarity | |||||||||
| Disulfide bond | 91 ↔ 123 | By similarity | |||||||||
| Disulfide bond | 102 ↔ 108 | By similarity | |||||||||
| Disulfide bond | 576 ↔ 620 | By similarity | |||||||||
| Disulfide bond | 580 ↔ 625 | By similarity | |||||||||
| Disulfide bond | 591 ↔ 609 | By similarity | |||||||||
| Disulfide bond | 831 ↔ 875 | By similarity | |||||||||
| Disulfide bond | 835 ↔ 880 | By similarity | |||||||||
| Disulfide bond | 846 ↔ 863 | By similarity | |||||||||
| Disulfide bond | 934 ↔ 982 | By similarity | |||||||||
| Disulfide bond | 1215 ↔ 1263 | By similarity | |||||||||
| Disulfide bond | 1321 ↔ 1367 | By similarity | |||||||||
Natural variations | |||||||||||
| Alternative sequence | 1657 – 1691 | 35 | RDCTD…SCQEG → STYTSQTATNKGAASHVKRD KPLEGS in isoform 2. | VSP_037810 | |||||||
| Natural variant | 146 | 1 | H → R. Ref.2 Corresponds to variant rs4483821 [ dbSNP | Ensembl ]. | VAR_027478 | |||||||
| Natural variant | 290 | 1 | L → V. Ref.3 Corresponds to variant rs4144691 [ dbSNP | Ensembl ]. | VAR_027479 | |||||||
| Natural variant | 330 | 1 | V → M in a colorectal cancer sample; somatic mutation. Ref.6 | VAR_035809 | |||||||
| Natural variant | 587 | 1 | R → H in a colorectal cancer sample; somatic mutation. Ref.6 | VAR_035810 | |||||||
| Natural variant | 661 | 1 | V → L. Ref.3 Corresponds to variant rs4842838 [ dbSNP | Ensembl ]. | VAR_027480 | |||||||
| Natural variant | 713 | 1 | G → R. Corresponds to variant rs34047645 [ dbSNP | Ensembl ]. | VAR_057365 | |||||||
| Natural variant | 855 | 1 | R → C in a colorectal cancer sample; somatic mutation. Ref.6 | VAR_035811 | |||||||
| Natural variant | 855 | 1 | R → H. Corresponds to variant rs2277848 [ dbSNP | Ensembl ]. | VAR_027481 | |||||||
| Natural variant | 869 | 1 | L → F. Ref.2 Corresponds to variant rs2277849 [ dbSNP | Ensembl ]. | VAR_027482 | |||||||
| Natural variant | 1315 | 1 | A → E in a colorectal cancer sample; somatic mutation. Ref.6 | VAR_035812 | |||||||
| Natural variant | 1370 | 1 | T → A. Corresponds to variant rs17158450 [ dbSNP | Ensembl ]. | VAR_027483 | |||||||
| Natural variant | 1558 | 1 | M → T. Corresponds to variant rs7175910 [ dbSNP | Ensembl ]. | VAR_027484 | |||||||
| Natural variant | 1660 | 1 | T → I. Corresponds to variant rs950169 [ dbSNP | Ensembl ]. | VAR_027485 | |||||||
| Natural variant | 1679 | 1 | R → H. Corresponds to variant rs11857906 [ dbSNP | Ensembl ]. | VAR_027486 | |||||||
Experimental info | |||||||||||
| Sequence conflict | 265 | 1 | A → V in AAK15041. Ref.3 | ||||||||
| Sequence conflict | 986 | 1 | S → F in AAI28390. Ref.2 | ||||||||
| Sequence conflict | 1526 | 1 | A → S in AAI28390. Ref.2 | ||||||||
Sequences
| ||||||||||||||||||||||||
References
| « Hide 'large scale' references | |
| [1] | "The DNA sequence and analysis of human chromosome 14." Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C., Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A., Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S., Sun H., Du H. Weissenbach J.Nature 421:601-607(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [2] | "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], VARIANTS ARG-146 AND PHE-869. |
| [3] | "ADAMTSL-3/punctin-2, a novel glycoprotein in extracellular matrix related to the ADAMTS family of metalloproteases." Hall N.G., Klenotic P., Anand-Apte B., Apte S.S. Matrix Biol. 22:501-510(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-766, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, VARIANTS VAL-290 AND LEU-661. |
| [4] | "Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro." Nagase T., Ishikawa K., Kikuno R., Hirosawa M., Nomura N., Ohara O. DNA Res. 6:337-345(1999) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 669-1691. Tissue: Brain. |
| [5] | "ADAMTSL3/punctin-2, a gene frequently mutated in colorectal tumors, is widely expressed in normal and malignant epithelial cells, vascular endothelial cells and other cell types, and its mRNA is reduced in colon cancer." Koo B.H., Hurskainen T., Mielke K., Aung P.P., Casey G., Autio-Harmainen H., Apte S.S. Int. J. Cancer 121:1710-1716(2007) [PubMed] [Europe PMC] [Abstract] Cited for: TISSUE SPECIFICITY. |
| [6] | "The consensus coding sequences of human breast and colorectal cancers." Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. Velculescu V.E.Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS [LARGE SCALE ANALYSIS] MET-330; HIS-587; CYS-855 AND GLU-1315. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AC087738 Genomic DNA. No translation available. AC116157 Genomic DNA. No translation available. AC027807 Genomic DNA. No translation available. BC128389 mRNA. Translation: AAI28390.1. BC128390 mRNA. Translation: AAI28391.1. AF237652 mRNA. Translation: AAK15041.1. AB033059 mRNA. Translation: BAA86547.1. |
| IPI | IPI00410588. IPI00788778. |
| RefSeq | NP_997400.2. NM_207517.2. |
| UniGene | Hs.459162. |
3D structure databases | |
| HSSP | HSSP built from PDB template 1LSL based on UniProtKB P07996. |
| ProteinModelPortal | P82987. |
| SMR | P82987. Positions 71-339, 421-509, 564-627, 705-761, 824-882, 923-994, 1164-1424, 1429-1454. |
| ModBase | Search... |
PTM databases | |
| PhosphoSite | P82987. |
Polymorphism databases | |
| DMDM | 308153648. |
Proteomic databases | |
| PaxDb | P82987. |
| PRIDE | P82987. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000286744; ENSP00000286744; ENSG00000156218. ENST00000567476; ENSP00000456313; ENSG00000156218. |
| GeneID | 57188. |
| KEGG | hsa:57188. |
| UCSC | uc002bjz.4. human. |
Organism-specific databases | |
| CTD | 57188. |
| GeneCards | GC15P084322. |
| H-InvDB | HIX0017599. |
| HGNC | HGNC:14633. ADAMTSL3. |
| HPA | HPA034773. |
| MIM | 609199. gene. |
| neXtProt | NX_P82987. |
| PharmGKB | PA134934525. |
| HUGE | Search... |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG272362. |
| HOGENOM | HOG000230906. |
| HOVERGEN | HBG079989. |
| InParanoid | P82987. |
| OMA | ANGQEVS. |
| OrthoDB | EOG483D40. |
| PhylomeDB | P82987. |
Gene expression databases | |
| Bgee | P82987. |
| CleanEx | HS_ADAMTSL3. |
| Genevestigator | P82987. |
Family and domain databases | |
| Gene3D | 2.60.40.10. 3 hits. |
| InterPro | IPR007110. Ig-like_dom. IPR013783. Ig-like_fold. IPR013098. Ig_I-set. IPR003599. Ig_sub. IPR003598. Ig_sub2. IPR013273. Peptidase_M12B_ADAM-TS. IPR010909. PLAC. IPR000884. Thrombospondin_1_rpt. [Graphical view] |
| Pfam | PF07679. I-set. 1 hit. PF08686. PLAC. 1 hit. PF00090. TSP_1. 9 hits. [Graphical view] |
| PRINTS | PR01857. ADAMTSFAMILY. |
| SMART | SM00409. IG. 1 hit. SM00408. IGc2. 2 hits. SM00209. TSP1. 12 hits. [Graphical view] |
| SUPFAM | SSF82895. TSP1. 12 hits. |
| PROSITE | PS50835. IG_LIKE. 3 hits. PS50900. PLAC. 1 hit. PS50092. TSP1. 10 hits. [Graphical view] |
| ProtoNet | Search... |
Other | |
| GenomeRNAi | 57188. |
| NextBio | 63254. |
| SOURCE | Search... |
Entry information
| Entry name | ATL3_HUMAN | ||||||||
| Accession | Primary (citable) accession number: P82987 Secondary accession number(s): A1A566, A1A567, Q9ULI7 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any 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. | ||||||||
Relevant documents
| Human chromosome 15 Human chromosome 15: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with
