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UniProtKB - Q9NS62 (THSD1_HUMAN)

Entry version 143 (07 Apr 2021)
Sequence version 1 (01 Oct 2000)
Previous versions | rss
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Protein

Thrombospondin type-1 domain-containing protein 1

Gene

THSD1

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

Is a positive regulator of nascent focal adhesion assembly, involved in the modulation of endothelial cell attachment to the extracellular matrix.2 Publications

<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

  • focal adhesion assembly Source: UniProtKB
Complete GO annotation on QuickGO ...

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q9NS62

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:
Thrombospondin type-1 domain-containing protein 1
Alternative name(s):
Transmembrane molecule with thrombospondin module
<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:THSD1
Synonyms:TMTSP
ORF Names:UNQ3010/PRO9769
<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 13

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:17754, THSD1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		616821, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9NS62

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000136114.15

<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

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini25 – 413ExtracellularSequence analysisAdd BLAST389
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei414 – 434HelicalSequence analysisAdd BLAST21
Topological domaini435 – 852CytoplasmicSequence analysisAdd BLAST418

<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

Cell junction, Endosome, Membrane, 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

Aneurysm, intracranial berry, 12 (ANIB12)2 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA form of cerebral aneurysm, a focal abnormal dilatation of a blood vessel in the brain. Berry intracranial aneurysms, also known as saccular aneurysms, have a characteristic rounded shape and account for the vast majority of intracranial aneurysms. They are the most common cause of non-traumatic subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death. Several risk factors such as smoking, hypertension, and excessive alcohol intake are associated with subarachnoid hemorrhage.
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_0837145L → F in ANIB12; loss of function in endothelial cell-matrix adhesion; undetectable protein expression. 1 PublicationCorresponds to variant dbSNP:rs1380388780Ensembl.1
Natural variantiVAR_083715450 – 852Missing in ANIB12; loss of function in endothelial cell-matrix adhesion. 1 PublicationAdd BLAST403
Natural variantiVAR_083716460R → W in ANIB12; unknown pathological significance; decreased function in endothelial cell-matrix adhesion; decreased interaction with TLN1. 2 PublicationsCorresponds to variant dbSNP:rs776400380Ensembl.1
Natural variantiVAR_083717466E → G in ANIB12; unknown pathological significance; loss of function in endothelial cell-matrix adhesion; decreased interaction with TLN1. 2 PublicationsCorresponds to variant dbSNP:rs201805081Ensembl.1
Natural variantiVAR_083718600G → E in ANIB12; unknown pathological significance; loss of function in endothelial cell-matrix adhesion; decreased interaction with TLN1. 2 PublicationsCorresponds to variant dbSNP:rs141140186Ensembl.1
Natural variantiVAR_083719639P → L in ANIB12; decreased function in endothelial cell-matrix adhesion; decreased interaction with TLN1. 2 PublicationsCorresponds to variant dbSNP:rs1024014523Ensembl.1
Natural variantiVAR_083720653T → I in ANIB12; unknown pathological significance; loss of function in endothelial cell-matrix adhesion; decreased interaction with TLN1. 2 PublicationsCorresponds to variant dbSNP:rs371717283Ensembl.1
Natural variantiVAR_083721775S → P in ANIB12; unknown pathological significance; loss of function in endothelial cell-matrix adhesion; decreased interaction with TLN1. 2 PublicationsCorresponds to variant dbSNP:rs780150341Ensembl.1

Keywords - Diseasei

Disease variant

Organism-specific databases

DisGeNET

More...DisGeNETi		55901

MalaCards human disease database

More...MalaCardsi		THSD1
MIMi618734, phenotype

Open Targets

More...OpenTargetsi		ENSG00000136114

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

More...Orphaneti		231160, Familial cerebral saccular aneurysm
363999, Non-immune hydrops fetalis

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA134937912

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q9NS62, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		THSD1

Domain mapping of disease mutations (DMDM)

More...DMDMi		74752936

<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_000024958425 – 852Thrombospondin type-1 domain-containing protein 1Add BLAST828

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>Glycosylationi39N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi53N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi58N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi69N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi80N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi135N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi304N-linked (GlcNAc...) asparagineSequence analysis1
<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 bondi352 ↔ 387PROSITE-ProRule annotation
Disulfide bondi356 ↔ 392PROSITE-ProRule annotation
Disulfide bondi367 ↔ 377PROSITE-ProRule annotation
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei463PhosphoserineBy similarity1

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q9NS62

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q9NS62

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q9NS62

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

More...PaxDbi		Q9NS62

PeptideAtlas

More...PeptideAtlasi		Q9NS62

PRoteomics IDEntifications database

More...PRIDEi		Q9NS62

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		82492 [Q9NS62-1]
82493 [Q9NS62-2]
82494 [Q9NS62-3]

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		Q9NS62, 8 sites, 1 O-linked glycan (1 site)

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9NS62

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

More...PhosphoSitePlusi		Q9NS62

<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		ENSG00000136114, Expressed in lung and 110 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q9NS62, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9NS62, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000136114, Low tissue specificity

<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

Part of a complex composed of THSD1, PTK2/FAK1, TLN1 and VCL (PubMed:29069646).

Interacts with TLN1 (PubMed:27895300, PubMed:29069646).

2 Publications

Protein-protein interaction databases

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		Q9NS62

Protein interaction database and analysis system

More...IntActi		Q9NS62, 1 interactor

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000258613

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q9NS62, 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		Q9NS62

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>Domaini340 – 393TSP type-1PROSITE-ProRule annotationAdd BLAST54

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG502QY3P, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00390000013335

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_336470_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9NS62

Identification of Orthologs from Complete Genome Data

More...OMAi		RNMETWS

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9NS62

TreeFam database of animal gene trees

More...TreeFami		TF333148

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		2.20.100.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR038877, THSD1
IPR000884, TSP1_rpt
IPR036383, TSP1_rpt_sf

The PANTHER Classification System

More...PANTHERi		PTHR16311, PTHR16311, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00090, TSP_1, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00209, TSP1, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF82895, SSF82895, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50092, TSP1, 1 hit

<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
Isoform 1 (identifier: Q9NS62-1) [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
MKPMLKDFSN LLLVVLCDYV LGEAEYLLLR EPGHVALSND TVYVDFQYFD 
        60         70         80         90        100
GANGTLRNVS VLLLEANTNQ TVTTKYLLTN QSQGTLKFEC FYFKEAGDYW 
       110        120        130        140        150
FTMTPEATDN STPFPWWEKS AFLKVEWPVF HVDLNRSAKA AEGTFQVGLF 
       160        170        180        190        200
TSQPLCPFPV DKPNIVVDVI FTNSLPEARR NSRQPLEIRT SKRTELAQGQ 
       210        220        230        240        250
WVEFGCAPLG PEAYVTVVLK LLGRDSVITS TGPIDLAQKF GYKLVMVPEL 
       260        270        280        290        300
TCESGVEVTV LPPPCTFVQG VVTVFKEAPR YPGKRTIHLA ENSLPLGERR 
       310        320        330        340        350
TIFNCTLFDM GKNKYCFDFG ISSRSHFSAK EECMLIQRNT ETWGLWQPWS 
       360        370        380        390        400
QCSATCGDGV RERRRVCLTS FPSSPVCPGM SLEASLCSLE ECAAFQPSSP 
       410        420        430        440        450
SPLQPQGPVK SNNIVTVTGI SLCLFIIIAT VLITLWRRFG RPAKCSTPAR 
       460        470        480        490        500
HNSIHSPSFR KNSDEENICE LSEQRGSFSD GGDGPTGSPG DTGIPLTYRR 
       510        520        530        540        550
SGPVPPEDDA SGSESFQSNA QKIIPPLFSY RLAQQQLKEM KKKGLTETTK 
       560        570        580        590        600
VYHVSQSPLT DTAIDAAPSA PLDLESPEEA AANKFRIKSP FPEQPAVSAG 
       610        620        630        640        650
ERPPSRLDLN VTQASCAISP SQTLIRKSQA RHVGSRGGPS ERSHARNAHF 
       660        670        680        690        700
RRTASFHEAR QARPFRERSM STLTPRQAPA YSSRTRTCEQ AEDRFRPQSR 
       710        720        730        740        750
GAHLFPEKLE HFQEASGTRG PLNPLPKSYT LGQPLRKPDL GDHQAGLVAG 
       760        770        780        790        800
IERTEPHRAR RGPSPSHKSV SRKQSSPISP KDNYQRVSSL SPSQCRKDKC 
       810        820        830        840        850
QSFPTHPEFA FYDNTSFGLT EAEQRMLDLP GYFGSNEEDE TTSTLSVEKL 

VI
Length:852
Mass (Da):94,584
Last modified:October 1, 2000 - 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:i597461CFDDC07147
GO
Isoform 2 (identifier: Q9NS62-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     341-393: Missing.

Show »
Length:799
Mass (Da):88,793
Checksum:i8EE64302930687B6
GO
Isoform 3 (identifier: Q9NS62-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     394-429: AFQPSSPSPLQPQGPVKSNNIVTVTGISLCLFIIIA → GGFSLCCPGWSAVARSWLTTSSASRVHAILLPQPPE
     430-852: Missing.

Show »
Length:429
Mass (Da):47,864
Checksum:i65F11FC187DAB6B0
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0837145L → F in ANIB12; loss of function in endothelial cell-matrix adhesion; undetectable protein expression. 1 PublicationCorresponds to variant dbSNP:rs1380388780Ensembl.1
Natural variantiVAR_027474125V → G. Corresponds to variant dbSNP:rs13313279Ensembl.1
Natural variantiVAR_027475224R → G. Corresponds to variant dbSNP:rs9536062Ensembl.1
Natural variantiVAR_083715450 – 852Missing in ANIB12; loss of function in endothelial cell-matrix adhesion. 1 PublicationAdd BLAST403
Natural variantiVAR_083716460R → W in ANIB12; unknown pathological significance; decreased function in endothelial cell-matrix adhesion; decreased interaction with TLN1. 2 PublicationsCorresponds to variant dbSNP:rs776400380Ensembl.1
Natural variantiVAR_083717466E → G in ANIB12; unknown pathological significance; loss of function in endothelial cell-matrix adhesion; decreased interaction with TLN1. 2 PublicationsCorresponds to variant dbSNP:rs201805081Ensembl.1
Natural variantiVAR_061920491D → H. Corresponds to variant dbSNP:rs56013270Ensembl.1
Natural variantiVAR_083718600G → E in ANIB12; unknown pathological significance; loss of function in endothelial cell-matrix adhesion; decreased interaction with TLN1. 2 PublicationsCorresponds to variant dbSNP:rs141140186Ensembl.1
Natural variantiVAR_083719639P → L in ANIB12; decreased function in endothelial cell-matrix adhesion; decreased interaction with TLN1. 2 PublicationsCorresponds to variant dbSNP:rs1024014523Ensembl.1
Natural variantiVAR_083720653T → I in ANIB12; unknown pathological significance; loss of function in endothelial cell-matrix adhesion; decreased interaction with TLN1. 2 PublicationsCorresponds to variant dbSNP:rs371717283Ensembl.1
Natural variantiVAR_027476768K → R. Corresponds to variant dbSNP:rs9536041Ensembl.1
Natural variantiVAR_083721775S → P in ANIB12; unknown pathological significance; loss of function in endothelial cell-matrix adhesion; decreased interaction with TLN1. 2 PublicationsCorresponds to variant dbSNP:rs780150341Ensembl.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_020521341 – 393Missing in isoform 2. 1 PublicationAdd BLAST53
Alternative sequenceiVSP_020522394 – 429AFQPS…FIIIA → GGFSLCCPGWSAVARSWLTT SSASRVHAILLPQPPE in isoform 3. 1 PublicationAdd BLAST36
Alternative sequenceiVSP_020523430 – 852Missing in isoform 3. 1 PublicationAdd BLAST423

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
AB044385 mRNA Translation: BAA96553.1
AY358149 mRNA Translation: AAQ88516.1
AK315087 mRNA Translation: BAG37552.1
AL359513 Genomic DNA No translation available.
CH471274 Genomic DNA Translation: EAW55891.1
CH471274 Genomic DNA Translation: EAW55894.1
BC063842 mRNA Translation: AAH63842.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS9432.1 [Q9NS62-1]
CCDS9433.1 [Q9NS62-2]

NCBI Reference Sequences

More...RefSeqi		NP_061146.1, NM_018676.3 [Q9NS62-1]
NP_954872.1, NM_199263.2 [Q9NS62-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000258613; ENSP00000258613; ENSG00000136114 [Q9NS62-1]
ENST00000349258; ENSP00000340650; ENSG00000136114 [Q9NS62-2]
ENST00000648254; ENSP00000497520; ENSG00000136114 [Q9NS62-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		55901

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:55901

UCSC genome browser

More...UCSCi		uc001vgo.4, human [Q9NS62-1]

Keywords - Coding sequence diversityi

Alternative splicing

<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
AB044385 mRNA Translation: BAA96553.1
AY358149 mRNA Translation: AAQ88516.1
AK315087 mRNA Translation: BAG37552.1
AL359513 Genomic DNA No translation available.
CH471274 Genomic DNA Translation: EAW55891.1
CH471274 Genomic DNA Translation: EAW55894.1
BC063842 mRNA Translation: AAH63842.1
CCDSiCCDS9432.1 [Q9NS62-1]
CCDS9433.1 [Q9NS62-2]
RefSeqiNP_061146.1, NM_018676.3 [Q9NS62-1]
NP_954872.1, NM_199263.2 [Q9NS62-2]

3D structure databases

SMRiQ9NS62
ModBaseiSearch...

Protein-protein interaction databases

CORUMiQ9NS62
IntActiQ9NS62, 1 interactor
STRINGi9606.ENSP00000258613

PTM databases

GlyGeniQ9NS62, 8 sites, 1 O-linked glycan (1 site)
iPTMnetiQ9NS62
PhosphoSitePlusiQ9NS62

Genetic variation databases

BioMutaiTHSD1
DMDMi74752936

Proteomic databases

EPDiQ9NS62
jPOSTiQ9NS62
MassIVEiQ9NS62
PaxDbiQ9NS62
PeptideAtlasiQ9NS62
PRIDEiQ9NS62
ProteomicsDBi82492 [Q9NS62-1]
82493 [Q9NS62-2]
82494 [Q9NS62-3]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		2452, 239 antibodies

Genome annotation databases

EnsembliENST00000258613; ENSP00000258613; ENSG00000136114 [Q9NS62-1]
ENST00000349258; ENSP00000340650; ENSG00000136114 [Q9NS62-2]
ENST00000648254; ENSP00000497520; ENSG00000136114 [Q9NS62-2]
GeneIDi55901
KEGGihsa:55901
UCSCiuc001vgo.4, human [Q9NS62-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		55901
DisGeNETi55901

GeneCards: human genes, protein and diseases

More...GeneCardsi		THSD1
HGNCiHGNC:17754, THSD1
HPAiENSG00000136114, Low tissue specificity
MalaCardsiTHSD1
MIMi616821, gene
618734, phenotype
neXtProtiNX_Q9NS62
OpenTargetsiENSG00000136114
Orphaneti231160, Familial cerebral saccular aneurysm
363999, Non-immune hydrops fetalis
PharmGKBiPA134937912
VEuPathDBiHostDB:ENSG00000136114.15

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG502QY3P, Eukaryota
GeneTreeiENSGT00390000013335
HOGENOMiCLU_336470_0_0_1
InParanoidiQ9NS62
OMAiRNMETWS
PhylomeDBiQ9NS62
TreeFamiTF333148

Enzyme and pathway databases

PathwayCommonsiQ9NS62
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		55901, 4 hits in 981 CRISPR screens

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

More...ChiTaRSi		THSD1, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		THSD1

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

More...GenomeRNAii		55901
PharosiQ9NS62, Tbio

Protein Ontology

More...PROi		PR:Q9NS62
RNActiQ9NS62, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000136114, Expressed in lung and 110 other tissues
ExpressionAtlasiQ9NS62, baseline and differential
GenevisibleiQ9NS62, HS

Family and domain databases

Gene3Di2.20.100.10, 1 hit
InterProiView protein in InterPro
IPR038877, THSD1
IPR000884, TSP1_rpt
IPR036383, TSP1_rpt_sf
PANTHERiPTHR16311, PTHR16311, 1 hit
PfamiView protein in Pfam
PF00090, TSP_1, 1 hit
SMARTiView protein in SMART
SM00209, TSP1, 1 hit
SUPFAMiSSF82895, SSF82895, 1 hit
PROSITEiView protein in PROSITE
PS50092, TSP1, 1 hit

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 nameiTHSD1_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: Q9NS62
Secondary accession number(s): A2A3J3
, B2RCF5, Q6P3U1, Q6UXZ2
<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: September 19, 2006
Last sequence update: October 1, 2000
Last modified: April 7, 2021
This is version 143 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 13
    Human chromosome 13: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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