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Entry version 135 (11 Dec 2019)
Sequence version 1 (01 Jun 2003)
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Protein

ADAMTS-like protein 2

Gene

ADAMTSL2

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

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Miscellaneous

There is a significant increase in total and active TGFB1 in the culture medium as well as nuclear localization of phosphorylated SMAD2 in fibroblasts from individuals with geleophysic dysplasia.

Caution

Although strongly similar to members of the ADAMTS family it lacks the metalloprotease and disintegrin-like domains which are typical of that family.Curated

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

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

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...
SignaLinki
Q86TH1

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
ADAMTS-like protein 2
Short name:
ADAMTSL-2
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:ADAMTSL2
Synonyms:KIAA0605
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 9

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000197859.9

Human Gene Nomenclature Database

More...
HGNCi
HGNC:14631 ADAMTSL2

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
612277 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q86TH1

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Cellular componenti

Secreted

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Geleophysic dysplasia 1 (GPHYSD1)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder characterized by severe short stature, short hands and feet, joint limitations, and skin thickening. Radiologic features include delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies. Affected individuals have characteristic facial features including a 'happy' face with full cheeks, shortened nose, hypertelorism, long and flat philtrum, and thin upper lip. Other distinctive features include progressive cardiac valvular thickening often leading to an early death, toe walking, tracheal stenosis, respiratory insufficiency, and lysosomal-like storage vacuoles in various tissues.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_06654350W → C in GPHYSD1. 1 PublicationCorresponds to variant dbSNP:rs1395219766Ensembl.1
Natural variantiVAR_06654472R → Q in GPHYSD1. 1 PublicationCorresponds to variant dbSNP:rs387907064EnsemblClinVar.1
Natural variantiVAR_054874113R → H in GPHYSD1; leads to the reduced secretion of the mutated protein. 1 PublicationCorresponds to variant dbSNP:rs113994122EnsemblClinVar.1
Natural variantiVAR_054875114E → K in GPHYSD1. 2 PublicationsCorresponds to variant dbSNP:rs113994123EnsemblClinVar.1
Natural variantiVAR_054876147P → L in GPHYSD1; leads to the reduced secretion of the mutated protein. 1 PublicationCorresponds to variant dbSNP:rs113994121EnsemblClinVar.1
Natural variantiVAR_066545159R → W in GPHYSD1. 1 PublicationCorresponds to variant dbSNP:rs776178041Ensembl.1
Natural variantiVAR_066546165A → T in GPHYSD1. 1 PublicationCorresponds to variant dbSNP:rs764516811EnsemblClinVar.1
Natural variantiVAR_066547171C → R in GPHYSD1. 1 Publication1
Natural variantiVAR_066548221R → C in GPHYSD1. 1 PublicationCorresponds to variant dbSNP:rs387907065EnsemblClinVar.1
Natural variantiVAR_066549239A → T in GPHYSD1. 1 Publication1
Natural variantiVAR_066550383 – 392Missing in GPHYSD1. 1 Publication10
Natural variantiVAR_066551593R → C in GPHYSD1. 1 Publication1
Natural variantiVAR_066552635S → L in GPHYSD1. 1 Publication1
Natural variantiVAR_054877811G → R in GPHYSD1; leads to the reduced secretion of the mutated protein. 1 PublicationCorresponds to variant dbSNP:rs113994124EnsemblClinVar.1
Natural variantiVAR_066553906P → L in GPHYSD1. 1 PublicationCorresponds to variant dbSNP:rs969732840EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Dwarfism

Organism-specific databases

DisGeNET

More...
DisGeNETi
9719

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
ADAMTSL2

MalaCards human disease database

More...
MalaCardsi
ADAMTSL2
MIMi231050 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000197859

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
2623 Geleophysic dysplasia

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134920655

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q86TH1 Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
ADAMTSL2

Domain mapping of disease mutations (DMDM)

More...
DMDMi
74750384

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 22Sequence analysisAdd BLAST22
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000024968223 – 951ADAMTS-like protein 2Add BLAST929

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi59 ↔ 100PROSITE-ProRule annotation
Disulfide bondi63 ↔ 105PROSITE-ProRule annotation
Disulfide bondi74 ↔ 90PROSITE-ProRule annotation
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi87N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi367N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi428N-linked (GlcNAc...) (complex) asparagine1 Publication1
Glycosylationi475N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi511N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi524N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi533N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi544N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi731N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi807N-linked (GlcNAc...) asparagineSequence analysis1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Glycosylated (By similarity). 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

Proteomic databases

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q86TH1

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q86TH1

PeptideAtlas

More...
PeptideAtlasi
Q86TH1

PRoteomics IDEntifications database

More...
PRIDEi
Q86TH1

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
69695

PTM databases

GlyConnect protein glycosylation platform

More...
GlyConnecti
1911

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q86TH1

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q86TH1

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000197859 Expressed in 96 organ(s), highest expression level in right atrium auricular region

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q86TH1 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q86TH1 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA045634
HPA053812

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with LTBP1.

1 Publication

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
115068, 1 interactor

Protein interaction database and analysis system

More...
IntActi
Q86TH1, 2 interactors

Molecular INTeraction database

More...
MINTi
Q86TH1

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000346478

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q86TH1 protein

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini47 – 106TSP type-1 1PROSITE-ProRule annotationAdd BLAST60
Domaini564 – 618TSP type-1 2PROSITE-ProRule annotationAdd BLAST55
Domaini622 – 686TSP type-1 3PROSITE-ProRule annotationAdd BLAST65
Domaini688 – 736TSP type-1 4PROSITE-ProRule annotationAdd BLAST49
Domaini737 – 795TSP type-1 5PROSITE-ProRule annotationAdd BLAST59
Domaini797 – 851TSP type-1 6PROSITE-ProRule annotationAdd BLAST55
Domaini853 – 908TSP type-1 7PROSITE-ProRule annotationAdd BLAST56
Domaini912 – 950PLACPROSITE-ProRule annotationAdd BLAST39

Keywords - Domaini

Repeat, Signal

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IND9 Eukaryota
ENOG410Y9HP LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000159447

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000116076

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q86TH1

Database of Orthologous Groups

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OrthoDBi
84598at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q86TH1

TreeFam database of animal gene trees

More...
TreeFami
TF316874

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
2.20.100.10, 5 hits

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR010294 ADAM_spacer1
IPR013273 ADAMTS/ADAMTS-like
IPR010909 PLAC
IPR000884 TSP1_rpt
IPR036383 TSP1_rpt_sf

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF05986 ADAM_spacer1, 1 hit
PF08686 PLAC, 1 hit
PF00090 TSP_1, 5 hits

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR01857 ADAMTSFAMILY

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00209 TSP1, 7 hits

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF82895 SSF82895, 7 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50900 PLAC, 1 hit
PS50092 TSP1, 4 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

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

Q86TH1-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MDGRWQCSCW AWFLLVLAVV AGDTVSTGST DNSPTSNSLE GGTDATAFWW
60 70 80 90 100
GEWTKWTACS RSCGGGVTSQ ERHCLQQRRK SVPGPGNRTC TGTSKRYQLC
110 120 130 140 150
RVQECPPDGR SFREEQCVSF NSHVYNGRTH QWKPLYPDDY VHISSKPCDL
160 170 180 190 200
HCTTVDGQRQ LMVPARDGTS CKLTDLRGVC VSGKCEPIGC DGVLFSTHTL
210 220 230 240 250
DKCGICQGDG SSCTHVTGNY RKGNAHLGYS LVTHIPAGAR DIQIVERKKS
260 270 280 290 300
ADVLALADEA GYYFFNGNYK VDSPKNFNIA GTVVKYRRPM DVYETGIEYI
310 320 330 340 350
VAQGPTNQGL NVMVWNQNGK SPSITFEYTL LQPPHESRPQ PIYYGFSESA
360 370 380 390 400
ESQGLDGAGL MGFVPHNGSL YGQASSERLG LDNRLFGHPG LDMELGPSQG
410 420 430 440 450
QETNEVCEQA GGGACEGPPR GKGFRDRNVT GTPLTGDKDD EEVDTHFASQ
460 470 480 490 500
EFFSANAISD QLLGAGSDLK DFTLNETVNS IFAQGAPRSS LAESFFVDYE
510 520 530 540 550
ENEGAGPYLL NGSYLELSSD RVANSSSEAP FPNVSTSLLT SAGNRTHKAR
560 570 580 590 600
TRPKARKQGV SPADMYRWKL SSHEPCSATC TTGVMSAYAM CVRYDGVEVD
610 620 630 640 650
DSYCDALTRP EPVHEFCAGR ECQPRWETSS WSECSRTCGE GYQFRVVRCW
660 670 680 690 700
KMLSPGFDSS VYSDLCEAAE AVRPEERKTC RNPACGPQWE MSEWSECTAK
710 720 730 740 750
CGERSVVTRD IRCSEDEKLC DPNTRPVGEK NCTGPPCDRQ WTVSDWGPCS
760 770 780 790 800
GSCGQGRTIR HVYCKTSDGR VVPESQCQME TKPLAIHPCG DKNCPAHWLA
810 820 830 840 850
QDWERCNTTC GRGVKKRLVL CMELANGKPQ TRSGPECGLA KKPPEESTCF
860 870 880 890 900
ERPCFKWYTS PWSECTKTCG VGVRMRDVKC YQGTDIVRGC DPLVKPVGRQ
910 920 930 940 950
ACDLQPCPTE PPDDSCQDQP GTNCALAIKV NLCGHWYYSK ACCRSCRPPH

S
Length:951
Mass (Da):104,621
Last modified:June 1, 2003 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i93A9B0DC5BAB6CC7
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
B1B0D4B1B0D4_HUMAN
ADAMTS-like protein 2
ADAMTSL2
1,060Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAA25531 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti59C → F in BAA25531 (PubMed:9628581).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06654350W → C in GPHYSD1. 1 PublicationCorresponds to variant dbSNP:rs1395219766Ensembl.1
Natural variantiVAR_06654472R → Q in GPHYSD1. 1 PublicationCorresponds to variant dbSNP:rs387907064EnsemblClinVar.1
Natural variantiVAR_054874113R → H in GPHYSD1; leads to the reduced secretion of the mutated protein. 1 PublicationCorresponds to variant dbSNP:rs113994122EnsemblClinVar.1
Natural variantiVAR_054875114E → K in GPHYSD1. 2 PublicationsCorresponds to variant dbSNP:rs113994123EnsemblClinVar.1
Natural variantiVAR_054876147P → L in GPHYSD1; leads to the reduced secretion of the mutated protein. 1 PublicationCorresponds to variant dbSNP:rs113994121EnsemblClinVar.1
Natural variantiVAR_066545159R → W in GPHYSD1. 1 PublicationCorresponds to variant dbSNP:rs776178041Ensembl.1
Natural variantiVAR_066546165A → T in GPHYSD1. 1 PublicationCorresponds to variant dbSNP:rs764516811EnsemblClinVar.1
Natural variantiVAR_066547171C → R in GPHYSD1. 1 Publication1
Natural variantiVAR_066548221R → C in GPHYSD1. 1 PublicationCorresponds to variant dbSNP:rs387907065EnsemblClinVar.1
Natural variantiVAR_066549239A → T in GPHYSD1. 1 Publication1
Natural variantiVAR_046011364V → I1 PublicationCorresponds to variant dbSNP:rs35767802Ensembl.1
Natural variantiVAR_066550383 – 392Missing in GPHYSD1. 1 Publication10
Natural variantiVAR_066551593R → C in GPHYSD1. 1 Publication1
Natural variantiVAR_066552635S → L in GPHYSD1. 1 Publication1
Natural variantiVAR_054877811G → R in GPHYSD1; leads to the reduced secretion of the mutated protein. 1 PublicationCorresponds to variant dbSNP:rs113994124EnsemblClinVar.1
Natural variantiVAR_066553906P → L in GPHYSD1. 1 PublicationCorresponds to variant dbSNP:rs969732840EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
AB011177 mRNA Translation: BAA25531.2 Different initiation.
BX324209 Genomic DNA No translation available.
BX649571 Genomic DNA No translation available.
BX629352 Genomic DNA No translation available.
BC050544 mRNA Translation: AAH50544.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS6976.1

Protein sequence database of the Protein Information Resource

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PIRi
T00260

NCBI Reference Sequences

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RefSeqi
NP_001138792.1, NM_001145320.1
NP_055509.2, NM_014694.3
XP_005272296.1, XM_005272239.2

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000354484; ENSP00000346478; ENSG00000197859
ENST00000393060; ENSP00000376780; ENSG00000197859
ENST00000651351; ENSP00000498961; ENSG00000197859

Database of genes from NCBI RefSeq genomes

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GeneIDi
9719

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:9719

UCSC genome browser

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UCSCi
uc011mdl.2 human

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB011177 mRNA Translation: BAA25531.2 Different initiation.
BX324209 Genomic DNA No translation available.
BX649571 Genomic DNA No translation available.
BX629352 Genomic DNA No translation available.
BC050544 mRNA Translation: AAH50544.1
CCDSiCCDS6976.1
PIRiT00260
RefSeqiNP_001138792.1, NM_001145320.1
NP_055509.2, NM_014694.3
XP_005272296.1, XM_005272239.2

3D structure databases

Database of comparative protein structure models

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ModBasei
Search...

SWISS-MODEL Interactive Workspace

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SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

BioGridi115068, 1 interactor
IntActiQ86TH1, 2 interactors
MINTiQ86TH1
STRINGi9606.ENSP00000346478

PTM databases

GlyConnecti1911
iPTMnetiQ86TH1
PhosphoSitePlusiQ86TH1

Polymorphism and mutation databases

BioMutaiADAMTSL2
DMDMi74750384

Proteomic databases

MassIVEiQ86TH1
PaxDbiQ86TH1
PeptideAtlasiQ86TH1
PRIDEiQ86TH1
ProteomicsDBi69695

Genome annotation databases

EnsembliENST00000354484; ENSP00000346478; ENSG00000197859
ENST00000393060; ENSP00000376780; ENSG00000197859
ENST00000651351; ENSP00000498961; ENSG00000197859
GeneIDi9719
KEGGihsa:9719
UCSCiuc011mdl.2 human

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
9719
DisGeNETi9719
EuPathDBiHostDB:ENSG00000197859.9

GeneCards: human genes, protein and diseases

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GeneCardsi
ADAMTSL2
GeneReviewsiADAMTSL2
HGNCiHGNC:14631 ADAMTSL2
HPAiHPA045634
HPA053812
MalaCardsiADAMTSL2
MIMi231050 phenotype
612277 gene
neXtProtiNX_Q86TH1
OpenTargetsiENSG00000197859
Orphaneti2623 Geleophysic dysplasia
PharmGKBiPA134920655

Human Unidentified Gene-Encoded large proteins database

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HUGEi
Search...

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IND9 Eukaryota
ENOG410Y9HP LUCA
GeneTreeiENSGT00940000159447
HOGENOMiHOG000116076
InParanoidiQ86TH1
OrthoDBi84598at2759
PhylomeDBiQ86TH1
TreeFamiTF316874

Enzyme and pathway databases

ReactomeiR-HSA-5083635 Defective B3GALTL causes Peters-plus syndrome (PpS)
R-HSA-5173214 O-glycosylation of TSR domain-containing proteins
SignaLinkiQ86TH1

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
ADAMTSL2 human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
9719
PharosiQ86TH1 Tbio

Protein Ontology

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PROi
PR:Q86TH1
RNActiQ86TH1 protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000197859 Expressed in 96 organ(s), highest expression level in right atrium auricular region
ExpressionAtlasiQ86TH1 baseline and differential
GenevisibleiQ86TH1 HS

Family and domain databases

Gene3Di2.20.100.10, 5 hits
InterProiView protein in InterPro
IPR010294 ADAM_spacer1
IPR013273 ADAMTS/ADAMTS-like
IPR010909 PLAC
IPR000884 TSP1_rpt
IPR036383 TSP1_rpt_sf
PfamiView protein in Pfam
PF05986 ADAM_spacer1, 1 hit
PF08686 PLAC, 1 hit
PF00090 TSP_1, 5 hits
PRINTSiPR01857 ADAMTSFAMILY
SMARTiView protein in SMART
SM00209 TSP1, 7 hits
SUPFAMiSSF82895 SSF82895, 7 hits
PROSITEiView protein in PROSITE
PS50900 PLAC, 1 hit
PS50092 TSP1, 4 hits

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiATL2_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q86TH1
Secondary accession number(s): B1B0D5, O60345
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 19, 2006
Last sequence update: June 1, 2003
Last modified: December 11, 2019
This is version 135 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. Human chromosome 9
    Human chromosome 9: 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
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