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Entry version 142 (13 Feb 2019)
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

  • peptidase activity Source: InterPro
  • protease binding Source: UniProtKB

GO - Biological processi

<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

Reactome - a knowledgebase of biological pathways and processes

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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_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 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_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:ADAMTSL4
Synonyms:TSRC1Imported
ORF Names:PP1396, UNQ2803/PRO34012
<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 1

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000143382.13

Human Gene Nomenclature Database

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HGNCi
HGNC:19706 ADAMTSL4

Online Mendelian Inheritance in Man (OMIM)

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MIMi
610113 gene

neXtProt; the human protein knowledge platform

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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; 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.
See also OMIM:225100
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.
See also OMIM:225200

Organism-specific databases

DisGeNET

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DisGeNETi
54507

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

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GeneReviewsi
ADAMTSL4

MalaCards human disease database

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MalaCardsi
ADAMTSL4
MIMi225100 phenotype
225200 phenotype

Open Targets

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OpenTargetsi
ENSG00000143382

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

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Orphaneti
1885 Isolated ectopia lentis

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA134879921

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
ADAMTSL4

Domain mapping of disease mutations (DMDM)

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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.<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_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>Glycosylationi490N-linked (GlcNAc...) (complex) asparagine2 Publications1
Glycosylationi773N-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

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

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EPDi
Q6UY14

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q6UY14

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

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PaxDbi
Q6UY14

PeptideAtlas

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PeptideAtlasi
Q6UY14

PRoteomics IDEntifications database

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PRIDEi
Q6UY14

ProteomicsDB human proteome resource

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ProteomicsDBi
67693
67694 [Q6UY14-2]

PTM databases

GlyConnect protein glycosylation platform

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GlyConnecti
991

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q6UY14

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

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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

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Bgeei
ENSG00000143382 Expressed in 160 organ(s), highest expression level in placenta

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q6UY14 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA006279

<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 CTSB. Interacts with FBN1.2 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">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="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

WithEntry#Exp.IntActNotes
Q53FW83EBI-10173507,EBI-10242473
ADAMTSL5Q6ZMM2-23EBI-10173507,EBI-10254938
AMMECR1Q9Y4X03EBI-10173507,EBI-8583355
AMMECR1Q9Y4X0-33EBI-10173507,EBI-12823597
ApoL6B3KTP43EBI-10173507,EBI-10175904
ASPSCR1Q9BZE93EBI-10173507,EBI-1993677
CCDC26Q8TAB73EBI-10173507,EBI-10271580
CFAP206Q8IYR05EBI-10173507,EBI-749051
CHCHD2Q9Y6H13EBI-10173507,EBI-2321769
CHRNGP07510-23EBI-10173507,EBI-11979451
CLEC18AA5D8T83EBI-10173507,EBI-10173491
CPNE7Q9UBL63EBI-10173507,EBI-744841
CREB5Q02930-35EBI-10173507,EBI-10192698
CST2P092283EBI-10173507,EBI-8832659
CTSBP078583EBI-742002,EBI-715062
CYP2S1Q96SQ93EBI-10173507,EBI-8633740
CYSRT1A8MQ034EBI-10173507,EBI-3867333
DIP2AQ14689-63EBI-10173507,EBI-10233719
DSCR8Q96T753EBI-10173507,EBI-10294182
EIF4E2O605733EBI-10173507,EBI-398610
FAHP169303EBI-10173507,EBI-4397076
FAM124BQ9H5Z63EBI-10173507,EBI-741626
FARS2O953633EBI-10173507,EBI-2513774
FBXW5Q969U65EBI-10173507,EBI-741068
FKBP1BP681063EBI-10173507,EBI-6693977
FLNAP21333-23EBI-10173507,EBI-9641086
FRS3O435595EBI-10173507,EBI-725515
GATA2P237693EBI-10173507,EBI-2806671
GIPP096813EBI-10173507,EBI-8588553
GMCL2Q8NEA95EBI-10173507,EBI-745707
GNEQ9Y2233EBI-10173507,EBI-4291090
GOLGA8DPQ0D2H93EBI-10173507,EBI-10181276
HEL-S-182mPV9HW603EBI-10173507,EBI-10180762
HGFP142103EBI-10173507,EBI-1039104
HOXA1P496397EBI-10173507,EBI-740785
Hoxa1P090223EBI-742002,EBI-3957603From Mus musculus.
KRTAP10-11P604123EBI-10173507,EBI-10217483
KRTAP10-5P603705EBI-10173507,EBI-10172150
KRTAP10-8P604105EBI-10173507,EBI-10171774
KRTAP10-9P604115EBI-10173507,EBI-10172052
KRTAP4-11Q9BYQ65EBI-10173507,EBI-10302392
KRTAP4-12Q9BQ663EBI-10173507,EBI-739863
KRTAP4-2Q9BYR55EBI-10173507,EBI-10172511
KRTAP5-6Q6L8G93EBI-10173507,EBI-10250562
KRTAP5-9P263719EBI-10173507,EBI-3958099
KRTAP9-2Q9BYQ45EBI-10173507,EBI-1044640
KRTAP9-4Q9BYQ23EBI-10173507,EBI-10185730
LCE1BQ5T7P35EBI-10173507,EBI-10245913
LCE2BO146334EBI-10173507,EBI-11478468
LCE2DQ5TA825EBI-10173507,EBI-10246750
LCE3CQ5T5A85EBI-10173507,EBI-10245291
LCE3EQ5T5B05EBI-10173507,EBI-10245456
LCE4AQ5TA785EBI-10173507,EBI-10246358
LGALS14Q8TCE93EBI-10173507,EBI-10274069
LHX4A0A0S2Z5S93EBI-10173507,EBI-16429099
LMO1P258003EBI-10173507,EBI-8639312
LMO2P257913EBI-10173507,EBI-739696
LONRF1Q17RB85EBI-10173507,EBI-2341787
LRRC29Q8WV353EBI-10173507,EBI-10276755
MAPKBP1O603365EBI-10173507,EBI-947402
MID2Q9UJV3-25EBI-10173507,EBI-10172526
MORN3Q6PF183EBI-10173507,EBI-9675802
NATD1Q8N6N65EBI-10173507,EBI-8656665
NMUR2Q9GZQ43EBI-10173507,EBI-10303844
NTF4P341303EBI-10173507,EBI-3907456
OLFM3Q96PB73EBI-10173507,EBI-10292253
PID1Q7Z2X43EBI-10173507,EBI-10256685
PIN1Q135263EBI-10173507,EBI-714158
PTGER3P43115-123EBI-10173507,EBI-10234038
RAB2BQ8WUD13EBI-10173507,EBI-5542466
RCHY1Q96PM53EBI-10173507,EBI-947779
RHOJQ9H4E53EBI-10173507,EBI-6285694
RYDENQ9NUL53EBI-10173507,EBI-10313866
SLC23A1Q9UHI73EBI-10173507,EBI-1759386
SLC6A20Q9NP913EBI-10173507,EBI-10311198
SMARCC1Q929225EBI-10173507,EBI-355653
SPATA8Q6RVD63EBI-10173507,EBI-8635958
SPINK2P201553EBI-10173507,EBI-10200479
STK16O757163EBI-742002,EBI-749295
SUSD6Q925373EBI-10173507,EBI-2866213
TCEA2Q155603EBI-10173507,EBI-710310
TMEM150AQ86TG13EBI-10173507,EBI-2799342
TOP3BO959853EBI-10173507,EBI-373403
TRIM42Q8IWZ53EBI-10173507,EBI-5235829
TRIP6Q156543EBI-10173507,EBI-742327
TSSK3Q96PN83EBI-10173507,EBI-3918381
VWC2Q2TAL64EBI-10173507,EBI-11957238
ZNF417Q8TAU35EBI-10173507,EBI-740727
ZNF587Q96SQ53EBI-10173507,EBI-6427977

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
120002, 112 interactors

Protein interaction database and analysis system

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IntActi
Q6UY14, 198 interactors

Molecular INTeraction database

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MINTi
Q6UY14

STRING: functional protein association networks

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STRINGi
9606.ENSP00000271643

<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

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q6UY14

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

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SMRi
Q6UY14

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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_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>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
ENOG41102GD LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000161136

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000034174

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG080879

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q6UY14

Identification of Orthologs from Complete Genome Data

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OMAi
PPCPPYW

Database of Orthologous Groups

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OrthoDBi
414258at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q6UY14

TreeFam database of animal gene trees

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TreeFami
TF316874

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
2.20.100.10, 6 hits

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR010294 ADAM_spacer1
IPR010909 PLAC
IPR000884 TSP1_rpt
IPR036383 TSP1_rpt_sf

Pfam protein domain database

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

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00209 TSP1, 6 hits

Superfamily database of structural and functional annotation

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SUPFAMi
SSF82895 SSF82895, 6 hits

PROSITE; a protein domain and family database

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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_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<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_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 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.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 11 Publication (identifier: Q6UY14-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
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
Note: Gene prediction confirmed by EST data.Curated
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.

Note: No experimental confirmation available.Curated
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

Note: No experimental confirmation available.
Show »
Length:1,097
Mass (Da):118,822
Checksum:iF7C5EB712A3EA448
GO

<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 at position 719.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]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.516243
Hs.732881

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]

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]
UniGeneiHs.516243
Hs.732881

3D structure databases

ProteinModelPortaliQ6UY14
SMRiQ6UY14
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120002, 112 interactors
IntActiQ6UY14, 198 interactors
MINTiQ6UY14
STRINGi9606.ENSP00000271643

PTM databases

GlyConnecti991
iPTMnetiQ6UY14
PhosphoSitePlusiQ6UY14

Polymorphism and mutation databases

BioMutaiADAMTSL4
DMDMi118573317

Proteomic databases

EPDiQ6UY14
jPOSTiQ6UY14
PaxDbiQ6UY14
PeptideAtlasiQ6UY14
PRIDEiQ6UY14
ProteomicsDBi67693
67694 [Q6UY14-2]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
54507
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000271643; ENSP00000271643; ENSG00000143382 [Q6UY14-1]
ENST00000369038; ENSP00000358034; ENSG00000143382 [Q6UY14-1]
ENST00000369039; ENSP00000358035; ENSG00000143382 [Q6UY14-3]
ENST00000369041; ENSP00000358037; ENSG00000143382 [Q6UY14-2]
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
HPAiHPA006279
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
ENOG41102GD LUCA
GeneTreeiENSGT00940000161136
HOGENOMiHOG000034174
HOVERGENiHBG080879
InParanoidiQ6UY14
OMAiPPCPPYW
OrthoDBi414258at2759
PhylomeDBiQ6UY14
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

Miscellaneous databases

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

Protein Ontology

More...
PROi
PR:Q6UY14

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000143382 Expressed in 160 organ(s), highest expression level in placenta
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, 5 hits
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...

<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_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: October 31, 2006
Last sequence update: October 31, 2006
Last modified: February 13, 2019
This is version 142 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

Complete proteome, Reference proteome

Documents

  1. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  2. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
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