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UniProtKB - Q6UY14 (ATL4_HUMAN)

Entry version 155 (07 Oct 2020)
Sequence version 2 (31 Oct 2006)
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Protein

ADAMTS-like protein 4

Gene

ADAMTSL4

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

Positive regulation of apoptosis. May facilitate FBN1 microfibril biogenesis.2 Publications

Caution

Although 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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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>Keywordsi

Biological processApoptosis

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q6UY14

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

<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%5Fand%5Ftaxonomy%5Fsection">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 4
Short name:
ADAMTSL-4
Alternative name(s):
Thrombospondin repeat-containing protein 1
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:ADAMTSL4
Synonyms:TSRC1Imported
ORF Names:PP1396, UNQ2803/PRO34012
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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 1

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000143382.13

Human Gene Nomenclature Database

More...HGNCi		HGNC:19706, ADAMTSL4

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		610113, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q6UY14

<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

Keywords - Cellular componenti

Extracellular matrix, 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

Ectopia lentis 2, isolated, autosomal recessive (ECTOL2)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn ocular abnormality characterized by partial or complete displacement of the lens from its space resulting from defective zonule formation.
Related information in OMIM
Ectopia lentis et pupillae (ECTOLP)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn ocular abnormality characterized by displacement of the lenses and the pupils, associated with other ocular anomalies, but without systemic manifestations. The condition is usually bilateral, with the lenses and pupils displaced in opposite directions. Additional signs include enlarged corneal diameter, increased corneal astigmatism, increased anterior chamber depth, thinning and flattening of the iris with loss of crypts, angle malformation caused by enlarged iris processes, persistent pupillary membrane, loss of zonular fibers, tilted disk, and increased axial length. Secondary manifestations include refractive errors, glaucoma, early cataract development, and retinal detachment. Membrane formation on the posterior aspect of the iris has been observed both in histologic sections and on ultrasound biomicroscopy.
Related information in OMIM

Organism-specific databases

DisGeNET

More...DisGeNETi		54507

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

More...GeneReviewsi		ADAMTSL4

MalaCards human disease database

More...MalaCardsi		ADAMTSL4
MIMi225100, phenotype
225200, phenotype

Open Targets

More...OpenTargetsi		ENSG00000143382

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

More...Orphaneti		1885, Isolated ectopia lentis

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA134879921

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q6UY14, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		ADAMTSL4

Domain mapping of disease mutations (DMDM)

More...DMDMi		118573317

<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 – 24Sequence analysisAdd BLAST24
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000025796625 – 1074ADAMTS-like protein 4Sequence analysisAdd BLAST1050

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">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>Glycosylationi490N-linked (GlcNAc...) (complex) asparagine2 Publications1
Glycosylationi773N-linked (GlcNAc...) asparagineSequence analysis1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">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

N-glycosylated. Can be O-fucosylated by POFUT2 on a serine or a threonine residue found within the consensus sequence C1-X2-(S/T)-C2-G of the TSP type-1 repeat domains where C1 and C2 are the first and second cysteine residue of the repeat, respectively. Fucosylated repeats can then be further glycosylated by the addition of a beta-1,3-glucose residue by the glucosyltransferase, B3GALTL. Fucosylation mediates the efficient secretion of ADAMTS family members. Also can be C-glycosylated with one or two mannose molecules on tryptophan residues within the consensus sequence W-X-X-W of the TPRs. N- and C-glycosylations can also facilitate secretion (By similarity).By similarity

Keywords - PTMi

Glycoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q6UY14

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q6UY14

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

More...PaxDbi		Q6UY14

PeptideAtlas

More...PeptideAtlasi		Q6UY14

PRoteomics IDEntifications database

More...PRIDEi		Q6UY14

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		30475
67693 [Q6UY14-1]
67694 [Q6UY14-2]

PTM databases

GlyConnect protein glycosylation platform

More...GlyConnecti		991, 2 N-Linked glycans (1 site)

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		Q6UY14, 14 sites, 3 O-linked glycans (11 sites)

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q6UY14

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

More...PhosphoSitePlusi		Q6UY14

<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

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed in colon, heart, leukocyte, liver, lung, skeletal muscle, spleen, testis and placenta. Weaker expression in bone marrow, brain tissue, kidney and pancreas. Expression studies in fetal tissues reveal strong expression in heart, kidney, liver, lung and skeletal muscle, but weaker expression in fetal brain and skin.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000143382, Expressed in esophagus and 182 other tissues

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q6UY14, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000143382, Tissue enriched (placenta)

<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%5Fsection">'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%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with CTSB.

Interacts with FBN1.

2 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Q6UY14
With#Exp.IntAct
CTSB [P07858]3EBI-742002,EBI-715062
STK16 [O75716]3EBI-742002,EBI-749295
Hoxa1 [P09022] from Mus musculus.3EBI-742002,EBI-3957603
Lox [P28301] from Mus musculus.2EBI-742002,EBI-642911
ADAMTSL4 - isoform 3 [Q6UY14-3]
With#Exp.IntAct
ADAM12 - isoform 4 [O43184-4]3EBI-10173507,EBI-12006944
itself3EBI-10173507,EBI-10173507
ADAMTSL5 - isoform 2 [Q6ZMM2-2]3EBI-10173507,EBI-10254938
ALPP [P05187]3EBI-10173507,EBI-1211484
AMMECR1 [Q9Y4X0]3EBI-10173507,EBI-8583355
AMMECR1 - isoform 3 [Q9Y4X0-3]3EBI-10173507,EBI-12823597
ApoL6 [B3KTP4]3EBI-10173507,EBI-10175904
APOL6 [Q9BWW8]3EBI-10173507,EBI-11574440
ASPSCR1 [Q9BZE9]3EBI-10173507,EBI-1993677
ATG9A - isoform 3 [Q7Z3C6-3]3EBI-10173507,EBI-12006308
BAG4 [O95429]3EBI-10173507,EBI-2949658
BANF2 - isoform 2 [Q9H503-2]3EBI-10173507,EBI-11977289
BOLA2B [A0A087WZT3]3EBI-10173507,EBI-12006120
C19orf57 - isoform 2 [Q0VDD7-2]3EBI-10173507,EBI-12040255
CATSPER1 [Q8NEC5]3EBI-10173507,EBI-744545
CBX3 [Q13185]3EBI-10173507,EBI-78176
CCDC26 [Q8TAB7]3EBI-10173507,EBI-10271580
CFAP206 [Q8IYR0]6EBI-10173507,EBI-749051
CHCHD2 [Q9Y6H1]3EBI-10173507,EBI-2321769
CHERP [Q8IWX8]3EBI-10173507,EBI-2555370
CHIC2 [Q9UKJ5]3EBI-10173507,EBI-741528
CHRD [Q9H2X0]3EBI-10173507,EBI-947551
CHRNG - isoform 2 [P07510-2]3EBI-10173507,EBI-11979451
CLEC18A [A5D8T8]3EBI-10173507,EBI-10173491
CPNE7 [Q9UBL6]3EBI-10173507,EBI-744841
CPNE7 - isoform 2 [Q9UBL6-2]3EBI-10173507,EBI-12012272
CREB5 - isoform 3 [Q02930-3]6EBI-10173507,EBI-10192698
CST2 [P09228]3EBI-10173507,EBI-8832659
CYP2S1 [Q96SQ9]3EBI-10173507,EBI-8633740
CYSRT1 [A8MQ03]3EBI-10173507,EBI-3867333
DGCR6L [Q9BY27]3EBI-10173507,EBI-742953
DIP2A - isoform 6 [Q14689-6]3EBI-10173507,EBI-10233719
DSCR8 [Q96T75]3EBI-10173507,EBI-10294182
EFEMP2 [O95967]3EBI-10173507,EBI-743414
EIF4E2 [O60573]3EBI-10173507,EBI-398610
EPDR1 [Q9UM22]3EBI-10173507,EBI-946972
ERCC3 [P19447]3EBI-10173507,EBI-1183307
EXOSC5 [Q9NQT4]3EBI-10173507,EBI-371876
FAH [P16930]3EBI-10173507,EBI-4397076
FAM124B [Q9H5Z6]3EBI-10173507,EBI-741626
FARS2 [O95363]3EBI-10173507,EBI-2513774
FBXO17 [Q96EF6]3EBI-10173507,EBI-2510157
FBXW5 [Q969U6]6EBI-10173507,EBI-741068
FKBP1B [P68106]3EBI-10173507,EBI-6693977
FLNA - isoform 2 [P21333-2]3EBI-10173507,EBI-9641086
FRS3 [O43559]3EBI-10173507,EBI-725515
GATA2 [P23769]3EBI-10173507,EBI-2806671
GIP [P09681]3EBI-10173507,EBI-8588553
GLYCTK [Q8IVS8]3EBI-10173507,EBI-748515
GMCL2 [Q8NEA9]3EBI-10173507,EBI-745707
GNE [Q9Y223]3EBI-10173507,EBI-4291090
GNE - isoform 2 [Q9Y223-2]3EBI-10173507,EBI-11975289
GNG13 [Q9P2W3]3EBI-10173507,EBI-11427343
GOLGA8DP [Q0D2H9]3EBI-10173507,EBI-10181276
GSTP1 [P09211]3EBI-10173507,EBI-353467
GUCD1 - isoform 2 [Q96NT3-2]3EBI-10173507,EBI-11978177
hCG_1987119 [A0A024R8L2]3EBI-10173507,EBI-14103818
HEL-S-182mP [V9HW60]3EBI-10173507,EBI-10180762
HEXIM2 [Q96MH2]3EBI-10173507,EBI-5460660
HGF [P14210]3EBI-10173507,EBI-1039104
HOXA1 [P49639]10EBI-10173507,EBI-740785
HOXC8 [P31273]3EBI-10173507,EBI-1752118
HSD3B7 [Q9H2F3]3EBI-10173507,EBI-3918847
INS [P01308]3EBI-10173507,EBI-7090529
IP6K1 [Q92551]3EBI-10173507,EBI-751911
ITGB2 [P05107]3EBI-10173507,EBI-300173
ITGB4 - isoform Beta-4A [P16144-2]3EBI-10173507,EBI-11051601
JOSD1 [Q15040]3EBI-10173507,EBI-2510602
KCTD7 - isoform 2 [Q96MP8-2]3EBI-10173507,EBI-11954971
KCTD9 [Q7L273]3EBI-10173507,EBI-4397613
KLHL38 [Q2WGJ6]3EBI-10173507,EBI-6426443
KRTAP1-1 [Q07627]3EBI-10173507,EBI-11959885
KRTAP1-5 [Q9BYS1]3EBI-10173507,EBI-11741292
KRTAP10-11 [P60412]3EBI-10173507,EBI-10217483
KRTAP10-5 [P60370]6EBI-10173507,EBI-10172150
KRTAP10-8 [P60410]6EBI-10173507,EBI-10171774
KRTAP10-9 [P60411]8EBI-10173507,EBI-10172052
KRTAP12-3 [P60328]3EBI-10173507,EBI-11953334
KRTAP19-2 [Q3LHN2]3EBI-10173507,EBI-12196745
KRTAP21-2 [Q3LI59]3EBI-10173507,EBI-18395721
KRTAP4-11 [Q9BYQ6]6EBI-10173507,EBI-10302392
KRTAP4-12 [Q9BQ66]3EBI-10173507,EBI-739863
KRTAP4-2 [Q9BYR5]6EBI-10173507,EBI-10172511
KRTAP4-4 [Q9BYR3]3EBI-10173507,EBI-11958132
KRTAP5-2 [Q701N4]3EBI-10173507,EBI-11958178
KRTAP5-3 [Q6L8H2]3EBI-10173507,EBI-11974251
KRTAP5-4 [Q6L8H1]3EBI-10173507,EBI-11963072
KRTAP5-6 [Q6L8G9]3EBI-10173507,EBI-10250562
KRTAP5-7 [Q6L8G8]3EBI-10173507,EBI-11987425
KRTAP5-9 [P26371]8EBI-10173507,EBI-3958099
KRTAP6-2 [Q3LI66]3EBI-10173507,EBI-11962084
KRTAP9-2 [Q9BYQ4]6EBI-10173507,EBI-1044640
KRTAP9-3 [Q9BYQ3]3EBI-10173507,EBI-1043191
KRTAP9-4 [Q9BYQ2]3EBI-10173507,EBI-10185730
LCE1A [Q5T7P2]3EBI-10173507,EBI-11962058
LCE1B [Q5T7P3]6EBI-10173507,EBI-10245913
LCE1C [Q5T751]3EBI-10173507,EBI-12224199
LCE1F [Q5T754]3EBI-10173507,EBI-11958008
LCE2A [Q5TA79]3EBI-10173507,EBI-10246607
LCE2B [O14633]6EBI-10173507,EBI-11478468
LCE2C [Q5TA81]3EBI-10173507,EBI-11973993
LCE2D [Q5TA82]6EBI-10173507,EBI-10246750
LCE3A [Q5TA76]3EBI-10173507,EBI-9394625
LCE3C [Q5T5A8]6EBI-10173507,EBI-10245291
LCE3D [Q9BYE3]3EBI-10173507,EBI-6658837
LCE3E [Q5T5B0]6EBI-10173507,EBI-10245456
LCE4A [Q5TA78]6EBI-10173507,EBI-10246358
LGALS14 [Q8TCE9]3EBI-10173507,EBI-10274069
LHX4 [A0A0S2Z5S9]3EBI-10173507,EBI-16429099
LMO1 [P25800]3EBI-10173507,EBI-8639312
LMO2 [P25791]3EBI-10173507,EBI-739696
LMO2 - isoform 3 [P25791-3]3EBI-10173507,EBI-11959475
LMO4 [P61968]3EBI-10173507,EBI-2798728
LNX1 [Q8TBB1]3EBI-10173507,EBI-739832
LONRF1 [Q17RB8]6EBI-10173507,EBI-2341787
LRFN4 [Q6PJG9]3EBI-10173507,EBI-7910762
LRRC29 [Q8WV35]3EBI-10173507,EBI-10276755
MAGOHB [Q96A72]3EBI-10173507,EBI-746778
MAPKBP1 [O60336]6EBI-10173507,EBI-947402
MID2 - isoform 2 [Q9UJV3-2]6EBI-10173507,EBI-10172526
MKRN3 [Q13064]3EBI-10173507,EBI-2340269
MORN3 [Q6PF18]3EBI-10173507,EBI-9675802
MYLIP [Q8WY64]3EBI-10173507,EBI-6952711
NATD1 [Q8N6N6]6EBI-10173507,EBI-8656665
NEK8 [Q86SG6]3EBI-10173507,EBI-1752987
NFKBID [Q8NI38]3EBI-10173507,EBI-10271199
NMUR2 [Q9GZQ4]3EBI-10173507,EBI-10303844
NOTCH2NLC [P0DPK4]3EBI-10173507,EBI-22310682
NR4A3 [Q92570]3EBI-10173507,EBI-13644623
NTAQ1 [Q96HA8]3EBI-10173507,EBI-741158
NTF4 [P34130]3EBI-10173507,EBI-3907456
NUFIP2 [Q7Z417]3EBI-10173507,EBI-1210753
OLFM3 [Q96PB7]3EBI-10173507,EBI-10292253
OTX1 [P32242]3EBI-10173507,EBI-740446
PCSK5 - isoform PC6A [Q92824-2]3EBI-10173507,EBI-11956269
PID1 [Q7Z2X4]3EBI-10173507,EBI-10256685
PIN1 [Q13526]3EBI-10173507,EBI-714158
PKN1 [Q16512]3EBI-10173507,EBI-602382
PLSCR4 [Q9NRQ2]3EBI-10173507,EBI-769257
POLD1 [P28340]3EBI-10173507,EBI-716569
POLR1C [O15160]3EBI-10173507,EBI-1055079
POU4F2 [Q12837]3EBI-10173507,EBI-17236143
PRKAB2 [O43741]4EBI-10173507,EBI-1053424
PRR19 - isoform 2 [A6NJB7-2]3EBI-10173507,EBI-11998870
PTGER3 - isoform 12 [P43115-12]3EBI-10173507,EBI-10234038
PTPMT1 [Q8WUK0]3EBI-10173507,EBI-7199479
QPRT [Q15274]3EBI-10173507,EBI-739851
R3HDM2 [Q9Y2K5]3EBI-10173507,EBI-948428
RAB2B [Q8WUD1]3EBI-10173507,EBI-5542466
RCHY1 [Q96PM5]3EBI-10173507,EBI-947779
RGL2 [O15211]3EBI-10173507,EBI-712355
RHOJ [Q9H4E5]3EBI-10173507,EBI-6285694
RPS19BP1 [Q86WX3]3EBI-10173507,EBI-4479407
RUNX1T1 - isoform MTG8A [Q06455-2]3EBI-10173507,EBI-11984663
SCNM1 [Q9BWG6]3EBI-10173507,EBI-748391
SHFL [Q9NUL5]3EBI-10173507,EBI-10313866
SHFL - isoform 4 [Q9NUL5-4]3EBI-10173507,EBI-11955083
SLC13A5 [Q86YT5]3EBI-10173507,EBI-12002412
SLC23A1 [Q9UHI7]3EBI-10173507,EBI-1759386
SLC6A20 [Q9NP91]3EBI-10173507,EBI-10311198
SLIT1 [O75093]3EBI-10173507,EBI-947791
SMARCC1 [Q92922]6EBI-10173507,EBI-355653
SPATA8 [Q6RVD6]3EBI-10173507,EBI-8635958
SPINK2 [P20155]3EBI-10173507,EBI-10200479
SPRY1 [O43609]3EBI-10173507,EBI-3866665
STK16 [O75716]3EBI-10173507,EBI-749295
SUSD6 [Q92537]3EBI-10173507,EBI-2866213
TCEA2 [Q15560]3EBI-10173507,EBI-710310
TFAP2D [Q7Z6R9]3EBI-10173507,EBI-11952651
TGFB1 [P01137]3EBI-10173507,EBI-779636
THAP6 [Q8TBB0]3EBI-10173507,EBI-3925505
TMEM150A [Q86TG1]3EBI-10173507,EBI-2799342
TOP3B [O95985]3EBI-10173507,EBI-373403
TRIM42 [Q8IWZ5]3EBI-10173507,EBI-5235829
TRIP6 [Q15654]3EBI-10173507,EBI-742327
TSSK3 [Q96PN8]3EBI-10173507,EBI-3918381
USP21 [Q9UK80]3EBI-10173507,EBI-373242
VASN [Q6EMK4]3EBI-10173507,EBI-10249550
VENTX [O95231]3EBI-10173507,EBI-10191303
VWC2 [Q2TAL6]6EBI-10173507,EBI-11957238
ZFHX2 [A2RRC6]3EBI-10173507,EBI-11994144
ZNF330 [Q9Y3S2]3EBI-10173507,EBI-373456
ZNF414 [Q96IQ9]3EBI-10173507,EBI-744257
ZNF417 [Q8TAU3]6EBI-10173507,EBI-740727
ZNF587 [Q96SQ5]3EBI-10173507,EBI-6427977
Q53FW83EBI-10173507,EBI-10242473

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		120002, 210 interactors

Protein interaction database and analysis system

More...IntActi		Q6UY14, 210 interactors

Molecular INTeraction database

More...MINTi		Q6UY14

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000358035

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q6UY14, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q6UY14

Database of comparative protein structure models

More...ModBasei		Search...

<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%5Fand%5Fdomains%5Fsection">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>Domaini48 – 93TSP type-1 1PROSITE-ProRule annotationAdd BLAST46
Domaini723 – 782TSP type-1 2PROSITE-ProRule annotationAdd BLAST60
Domaini783 – 842TSP type-1 3PROSITE-ProRule annotationAdd BLAST60
Domaini845 – 909TSP type-1 4PROSITE-ProRule annotationAdd BLAST65
Domaini910 – 969TSP type-1 5PROSITE-ProRule annotationAdd BLAST60
Domaini970 – 1026TSP type-1 6PROSITE-ProRule annotationAdd BLAST57
Domaini1029 – 1066PLACPROSITE-ProRule annotationAdd BLAST38

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi602 – 664Pro-richSequence analysisAdd BLAST63

Keywords - Domaini

Repeat, Signal

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG3538, Eukaryota
KOG4597, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000161136

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_000660_6_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q6UY14

KEGG Orthology (KO)

More...KOi		K23369

Identification of Orthologs from Complete Genome Data

More...OMAi		QICNTIP

Database of Orthologous Groups

More...OrthoDBi		414258at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q6UY14

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, 6 hits

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR010294, ADAM_spacer1
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, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00209, TSP1, 6 hits

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF82895, SSF82895, 6 hits

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50900, PLAC, 1 hit
PS50092, TSP1, 6 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%5Flength">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>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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 describes 3 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 11 Publication (identifier: Q6UY14-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
MENWTGRPWL YLLLLLSLPQ LCLDQEVLSG HSLQTPTEEG QGPEGVWGPW 
        60         70         80         90        100
VQWASCSQPC GVGVQRRSRT CQLPTVQLHP SLPLPPRPPR HPEALLPRGQ 
       110        120        130        140        150
GPRPQTSPET LPLYRTQSRG RGGPLRGPAS HLGREETQEI RAARRSRLRD 
       160        170        180        190        200
PIKPGMFGYG RVPFALPLHR NRRHPRSPPR SELSLISSRG EEAIPSPTPR 
       210        220        230        240        250
AEPFSANGSP QTELPPTELS VHTPSPQAEP LSPETAQTEV APRTRPAPLR 
       260        270        280        290        300
HHPRAQASGT EPPSPTHSLG EGGFFRASPQ PRRPSSQGWA SPQVAGRRPD 
       310        320        330        340        350
PFPSVPRGRG QQGQGPWGTG GTPHGPRLEP DPQHPGAWLP LLSNGPHASS 
       360        370        380        390        400
LWSLFAPSSP IPRCSGESEQ LRACSQAPCP PEQPDPRALQ CAAFNSQEFM 
       410        420        430        440        450
GQLYQWEPFT EVQGSQRCEL NCRPRGFRFY VRHTEKVQDG TLCQPGAPDI 
       460        470        480        490        500
CVAGRCLSPG CDGILGSGRR PDGCGVCGGD DSTCRLVSGN LTDRGGPLGY 
       510        520        530        540        550
QKILWIPAGA LRLQIAQLRP SSNYLALRGP GGRSIINGNW AVDPPGSYRA 
       560        570        580        590        600
GGTVFRYNRP PREEGKGESL SAEGPTTQPV DVYMIFQEEN PGVFYQYVIS 
       610        620        630        640        650
SPPPILENPT PEPPVPQLQP EILRVEPPLA PAPRPARTPG TLQRQVRIPQ 
       660        670        680        690        700
MPAPPHPRTP LGSPAAYWKR VGHSACSASC GKGVWRPIFL CISRESGEEL 
       710        720        730        740        750
DERSCAAGAR PPASPEPCHG TPCPPYWEAG EWTSCSRSCG PGTQHRQLQC 
       760        770        780        790        800
RQEFGGGGSS VPPERCGHLP RPNITQSCQL RLCGHWEVGS PWSQCSVRCG 
       810        820        830        840        850
RGQRSRQVRC VGNNGDEVSE QECASGPPQP PSREACDMGP CTTAWFHSDW 
       860        870        880        890        900
SSKCSAECGT GIQRRSVVCL GSGAALGPGQ GEAGAGTGQS CPTGSRPPDM 
       910        920        930        940        950
RACSLGPCER TWRWYTGPWG ECSSECGSGT QRRDIICVSK LGTEFNVTSP 
       960        970        980        990       1000
SNCSHLPRPP ALQPCQGQAC QDRWFSTPWS PCSRSCQGGT QTREVQCLST 
      1010       1020       1030       1040       1050
NQTLSTRCPP QLRPSRKRPC NSQPCSQRPD DQCKDSSPHC PLVVQARLCV 
      1060       1070 
YPYYTATCCR SCAHVLERSP QDPS
Length:1,074
Mass (Da):116,545
Last modified:October 31, 2006 - v2
<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:i79AE0E5DF5488CA1
GO
Isoform 21 Publication (identifier: Q6UY14-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     854-877: CSAECGTGIQRRSVVCLGSGAALG → VSPEPPAISCILGNHAQDTSAFPA
     878-1074: Missing.

Show »
Length:877
Mass (Da):95,132
Checksum:iB778D79DB24E4EA9
GO
Isoform 3 (identifier: Q6UY14-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     411-411: E → EAPLLPLRHAFFLLPGAGSGDSTG

Show »
Length:1,097
Mass (Da):118,822
Checksum:iF7C5EB712A3EA448
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
A0A669KBE7A0A669KBE7_HUMAN
ADAMTS-like protein 4
ADAMTSL4
1,035Annotation 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 AAG17217 differs from that shown. Reason: Frameshift.Curated

Natural variant

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_061918193A → P1 PublicationCorresponds to variant dbSNP:rs41317515EnsemblClinVar.1
Natural variantiVAR_0619191028R → H. Corresponds to variant dbSNP:rs56411234Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_055759411E → EAPLLPLRHAFFLLPGAGSG DSTG in isoform 3. Curated1
Alternative sequenceiVSP_052183854 – 877CSAEC…GAALG → VSPEPPAISCILGNHAQDTS AFPA in isoform 2. 2 PublicationsAdd BLAST24
Alternative sequenceiVSP_052184878 – 1074Missing in isoform 2. 2 PublicationsAdd BLAST197

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
AY358122 mRNA Translation: AAQ88489.1
AL356356 Genomic DNA Translation: CAI15499.1
AL356356 Genomic DNA Translation: CAI15500.2
BC027478 mRNA Translation: AAH27478.2
BC071852 mRNA Translation: AAH71852.1
BC094811 mRNA Translation: AAH94811.1
BC140800 mRNA Translation: AAI40801.1
AF217974 mRNA Translation: AAG17217.1 Frameshift.

The Consensus CDS (CCDS) project

More...CCDSi		CCDS30852.1 [Q6UY14-2]
CCDS72908.1 [Q6UY14-3]
CCDS955.1 [Q6UY14-1]

NCBI Reference Sequences

More...RefSeqi		NP_001275536.1, NM_001288607.1
NP_001275537.1, NM_001288608.1 [Q6UY14-3]
NP_061905.2, NM_019032.5 [Q6UY14-1]
NP_079284.2, NM_025008.4 [Q6UY14-2]
XP_011507950.1, XM_011509648.2 [Q6UY14-3]
XP_016856995.1, XM_017001506.1 [Q6UY14-3]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000271643; ENSP00000271643; ENSG00000143382 [Q6UY14-1]
ENST00000369038; ENSP00000358034; ENSG00000143382 [Q6UY14-1]
ENST00000369039; ENSP00000358035; ENSG00000143382 [Q6UY14-3]
ENST00000369041; ENSP00000358037; ENSG00000143382 [Q6UY14-2]
ENST00000674043; ENSP00000501295; ENSG00000143382 [Q6UY14-3]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		54507

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:54507

UCSC genome browser

More...UCSCi		uc001euw.5, human [Q6UY14-1]

Keywords - Coding sequence diversityi

Alternative splicing, 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
AY358122 mRNA Translation: AAQ88489.1
AL356356 Genomic DNA Translation: CAI15499.1
AL356356 Genomic DNA Translation: CAI15500.2
BC027478 mRNA Translation: AAH27478.2
BC071852 mRNA Translation: AAH71852.1
BC094811 mRNA Translation: AAH94811.1
BC140800 mRNA Translation: AAI40801.1
AF217974 mRNA Translation: AAG17217.1 Frameshift.
CCDSiCCDS30852.1 [Q6UY14-2]
CCDS72908.1 [Q6UY14-3]
CCDS955.1 [Q6UY14-1]
RefSeqiNP_001275536.1, NM_001288607.1
NP_001275537.1, NM_001288608.1 [Q6UY14-3]
NP_061905.2, NM_019032.5 [Q6UY14-1]
NP_079284.2, NM_025008.4 [Q6UY14-2]
XP_011507950.1, XM_011509648.2 [Q6UY14-3]
XP_016856995.1, XM_017001506.1 [Q6UY14-3]

3D structure databases

SMRiQ6UY14
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi120002, 210 interactors
IntActiQ6UY14, 210 interactors
MINTiQ6UY14
STRINGi9606.ENSP00000358035

PTM databases

GlyConnecti991, 2 N-Linked glycans (1 site)
GlyGeniQ6UY14, 14 sites, 3 O-linked glycans (11 sites)
iPTMnetiQ6UY14
PhosphoSitePlusiQ6UY14

Polymorphism and mutation databases

BioMutaiADAMTSL4
DMDMi118573317

Proteomic databases

EPDiQ6UY14
MassIVEiQ6UY14
PaxDbiQ6UY14
PeptideAtlasiQ6UY14
PRIDEiQ6UY14
ProteomicsDBi30475
67693 [Q6UY14-1]
67694 [Q6UY14-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		1665, 90 antibodies

The DNASU plasmid repository

More...DNASUi		54507

Genome annotation databases

EnsembliENST00000271643; ENSP00000271643; ENSG00000143382 [Q6UY14-1]
ENST00000369038; ENSP00000358034; ENSG00000143382 [Q6UY14-1]
ENST00000369039; ENSP00000358035; ENSG00000143382 [Q6UY14-3]
ENST00000369041; ENSP00000358037; ENSG00000143382 [Q6UY14-2]
ENST00000674043; ENSP00000501295; ENSG00000143382 [Q6UY14-3]
GeneIDi54507
KEGGihsa:54507
UCSCiuc001euw.5, human [Q6UY14-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		54507
DisGeNETi54507
EuPathDBiHostDB:ENSG00000143382.13

GeneCards: human genes, protein and diseases

More...GeneCardsi		ADAMTSL4
GeneReviewsiADAMTSL4
HGNCiHGNC:19706, ADAMTSL4
HPAiENSG00000143382, Tissue enriched (placenta)
MalaCardsiADAMTSL4
MIMi225100, phenotype
225200, phenotype
610113, gene
neXtProtiNX_Q6UY14
OpenTargetsiENSG00000143382
Orphaneti1885, Isolated ectopia lentis
PharmGKBiPA134879921

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG3538, Eukaryota
KOG4597, Eukaryota
GeneTreeiENSGT00940000161136
HOGENOMiCLU_000660_6_0_1
InParanoidiQ6UY14
KOiK23369
OMAiQICNTIP
OrthoDBi414258at2759
PhylomeDBiQ6UY14
TreeFamiTF316874

Enzyme and pathway databases

PathwayCommonsiQ6UY14
ReactomeiR-HSA-5083635, Defective B3GALTL causes Peters-plus syndrome (PpS)
R-HSA-5173214, O-glycosylation of TSR domain-containing proteins

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		54507, 43 hits in 873 CRISPR screens

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

More...ChiTaRSi		ADAMTSL4, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		ADAMTSL4

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

More...GenomeRNAii		54507
PharosiQ6UY14, Tbio

Protein Ontology

More...PROi		PR:Q6UY14
RNActiQ6UY14, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000143382, Expressed in esophagus and 182 other tissues
GenevisibleiQ6UY14, HS

Family and domain databases

Gene3Di2.20.100.10, 6 hits
InterProiView protein in InterPro
IPR010294, ADAM_spacer1
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, 1 hit
SMARTiView protein in SMART
SM00209, TSP1, 6 hits
SUPFAMiSSF82895, SSF82895, 6 hits
PROSITEiView protein in PROSITE
PS50900, PLAC, 1 hit
PS50092, TSP1, 6 hits

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...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 nameiATL4_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: Q6UY14
Secondary accession number(s): B2RTT0
, F8WAD0, Q5T5F7, Q6IPM6, Q8N643, Q9HBS6
<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%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 31, 2006
Last sequence update: October 31, 2006
Last modified: October 7, 2020
This is version 155 of the entry and version 2 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 polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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