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UniProtKB - Q9NS62 (THSD1_HUMAN)
Protein
Thrombospondin type-1 domain-containing protein 1
Gene
THSD1
Organism
Homo sapiens (Human)
Status
Functioni
Is a positive regulator of nascent focal adhesion assembly, involved in the modulation of endothelial cell attachment to the extracellular matrix.
2 PublicationsGO - Molecular functioni
- extracellular matrix binding Source: UniProtKB
GO - Biological processi
- focal adhesion assembly Source: UniProtKB
Enzyme and pathway databases
PathwayCommonsi | Q9NS62 |
Reactomei | R-HSA-5083635, Defective B3GALTL causes PpS R-HSA-5173214, O-glycosylation of TSR domain-containing proteins |
SignaLinki | Q9NS62 |
Names & Taxonomyi
Protein namesi | Recommended name: Thrombospondin type-1 domain-containing protein 1Alternative name(s): Transmembrane molecule with thrombospondin module |
Gene namesi | Name:THSD1 Synonyms:TMTSP ORF Names:UNQ3010/PRO9769 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:17754, THSD1 |
MIMi | 616821, gene |
neXtProti | NX_Q9NS62 |
VEuPathDBi | HostDB:ENSG00000136114 |
Subcellular locationi
Endosome
- Endosome membrane 1 Publication; Single-pass type I membrane protein Curated
Other locations
- focal adhesion 1 Publication
Note: Localizes to nascent focal adhesions.1 Publication
Other locations
- Membrane Curated; Single-pass type I membrane protein Curated
Extracellular region or secreted
Cytosol
- cytosol Source: HPA
Endosome
- endosome Source: UniProtKB
- endosome membrane Source: UniProtKB-SubCell
Extracellular region or secreted
- extracellular region Source: UniProtKB-SubCell
Other locations
- cell periphery Source: GO_Central
- focal adhesion Source: UniProtKB
- integral component of membrane Source: UniProtKB-KW
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 25 – 413 | ExtracellularSequence analysisAdd BLAST | 389 | |
Transmembranei | 414 – 434 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 435 – 852 | CytoplasmicSequence analysisAdd BLAST | 418 |
Keywords - Cellular componenti
Cell junction, Endosome, Membrane, SecretedPathology & Biotechi
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 OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_083714 | 5 | L → F in ANIB12; loss of function in endothelial cell-matrix adhesion; undetectable protein expression. 1 PublicationCorresponds to variant dbSNP:rs1380388780Ensembl. | 1 | |
Natural variantiVAR_083715 | 450 – 852 | Missing in ANIB12; loss of function in endothelial cell-matrix adhesion. 1 PublicationAdd BLAST | 403 | |
Natural variantiVAR_083716 | 460 | R → 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_083717 | 466 | E → 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_083718 | 600 | G → 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_083719 | 639 | P → L in ANIB12; decreased function in endothelial cell-matrix adhesion; decreased interaction with TLN1. 2 PublicationsCorresponds to variant dbSNP:rs1024014523Ensembl. | 1 | |
Natural variantiVAR_083720 | 653 | T → 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_083721 | 775 | S → 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 variantOrganism-specific databases
DisGeNETi | 55901 |
MalaCardsi | THSD1 |
MIMi | 618734, phenotype |
OpenTargetsi | ENSG00000136114 |
Orphaneti | 231160, Familial cerebral saccular aneurysm 363999, Non-immune hydrops fetalis |
PharmGKBi | PA134937912 |
Miscellaneous databases
Pharosi | Q9NS62, Tbio |
Genetic variation databases
BioMutai | THSD1 |
DMDMi | 74752936 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Signal peptidei | 1 – 24 | Sequence analysisAdd BLAST | 24 | |
ChainiPRO_0000249584 | 25 – 852 | Thrombospondin type-1 domain-containing protein 1Add BLAST | 828 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Glycosylationi | 39 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 53 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 58 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 69 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 80 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 135 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 304 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 352 ↔ 387 | PROSITE-ProRule annotation | ||
Disulfide bondi | 356 ↔ 392 | PROSITE-ProRule annotation | ||
Disulfide bondi | 367 ↔ 377 | PROSITE-ProRule annotation | ||
Modified residuei | 463 | PhosphoserineBy similarity | 1 |
Keywords - PTMi
Disulfide bond, Glycoprotein, PhosphoproteinProteomic databases
EPDi | Q9NS62 |
jPOSTi | Q9NS62 |
MassIVEi | Q9NS62 |
PaxDbi | Q9NS62 |
PeptideAtlasi | Q9NS62 |
PRIDEi | Q9NS62 |
ProteomicsDBi | 82492 [Q9NS62-1] 82493 [Q9NS62-2] 82494 [Q9NS62-3] |
PTM databases
GlyGeni | Q9NS62, 10 sites, 2 O-linked glycans (3 sites) |
iPTMneti | Q9NS62 |
PhosphoSitePlusi | Q9NS62 |
Expressioni
Gene expression databases
Bgeei | ENSG00000136114, Expressed in lung and 111 other tissues |
ExpressionAtlasi | Q9NS62, baseline and differential |
Genevisiblei | Q9NS62, HS |
Organism-specific databases
HPAi | ENSG00000136114, Low tissue specificity |
Interactioni
Subunit structurei
Protein-protein interaction databases
BioGRIDi | 120988, 2 interactors |
CORUMi | Q9NS62 |
IntActi | Q9NS62, 1 interactor |
STRINGi | 9606.ENSP00000258613 |
Miscellaneous databases
RNActi | Q9NS62, protein |
Structurei
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 340 – 393 | TSP type-1PROSITE-ProRule annotationAdd BLAST | 54 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 444 – 517 | DisorderedSequence analysisAdd BLAST | 74 | |
Regioni | 624 – 799 | DisorderedSequence analysisAdd BLAST | 176 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 457 – 471 | Basic and acidic residuesSequence analysisAdd BLAST | 15 | |
Compositional biasi | 637 – 665 | Basic and acidic residuesSequence analysisAdd BLAST | 29 | |
Compositional biasi | 667 – 686 | Polar residuesSequence analysisAdd BLAST | 20 | |
Compositional biasi | 687 – 714 | Basic and acidic residuesSequence analysisAdd BLAST | 28 | |
Compositional biasi | 768 – 799 | Polar residuesSequence analysisAdd BLAST | 32 |
Keywords - Domaini
Signal, Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | ENOG502QY3P, Eukaryota |
GeneTreei | ENSGT00390000013335 |
HOGENOMi | CLU_336470_0_0_1 |
InParanoidi | Q9NS62 |
OMAi | RNMETWS |
PhylomeDBi | Q9NS62 |
TreeFami | TF333148 |
Family and domain databases
Gene3Di | 2.20.100.10, 1 hit |
InterProi | View protein in InterPro IPR038877, THSD1 IPR000884, TSP1_rpt IPR036383, TSP1_rpt_sf |
PANTHERi | PTHR16311, PTHR16311, 1 hit |
Pfami | View protein in Pfam PF00090, TSP_1, 1 hit |
SMARTi | View protein in SMART SM00209, TSP1, 1 hit |
SUPFAMi | SSF82895, SSF82895, 1 hit |
PROSITEi | View protein in PROSITE PS50092, TSP1, 1 hit |
s (3)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketIsoform 1 (identifier: Q9NS62-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_083714 | 5 | L → F in ANIB12; loss of function in endothelial cell-matrix adhesion; undetectable protein expression. 1 PublicationCorresponds to variant dbSNP:rs1380388780Ensembl. | 1 | |
Natural variantiVAR_027474 | 125 | V → G. Corresponds to variant dbSNP:rs13313279Ensembl. | 1 | |
Natural variantiVAR_027475 | 224 | R → G. Corresponds to variant dbSNP:rs9536062Ensembl. | 1 | |
Natural variantiVAR_083715 | 450 – 852 | Missing in ANIB12; loss of function in endothelial cell-matrix adhesion. 1 PublicationAdd BLAST | 403 | |
Natural variantiVAR_083716 | 460 | R → 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_083717 | 466 | E → 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_061920 | 491 | D → H. Corresponds to variant dbSNP:rs56013270Ensembl. | 1 | |
Natural variantiVAR_083718 | 600 | G → 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_083719 | 639 | P → L in ANIB12; decreased function in endothelial cell-matrix adhesion; decreased interaction with TLN1. 2 PublicationsCorresponds to variant dbSNP:rs1024014523Ensembl. | 1 | |
Natural variantiVAR_083720 | 653 | T → 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_027476 | 768 | K → R. Corresponds to variant dbSNP:rs9536041Ensembl. | 1 | |
Natural variantiVAR_083721 | 775 | S → 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 key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_020521 | 341 – 393 | Missing in isoform 2. 1 PublicationAdd BLAST | 53 | |
Alternative sequenceiVSP_020522 | 394 – 429 | AFQPS…FIIIA → GGFSLCCPGWSAVARSWLTT SSASRVHAILLPQPPE in isoform 3. 1 PublicationAdd BLAST | 36 | |
Alternative sequenceiVSP_020523 | 430 – 852 | Missing in isoform 3. 1 PublicationAdd BLAST | 423 |
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 |
CCDSi | CCDS9432.1 [Q9NS62-1] CCDS9433.1 [Q9NS62-2] |
RefSeqi | NP_061146.1, NM_018676.3 [Q9NS62-1] NP_954872.1, NM_199263.2 [Q9NS62-2] |
Genome annotation databases
Ensembli | ENST00000258613; ENSP00000258613; ENSG00000136114 ENST00000349258; ENSP00000340650; ENSG00000136114 [Q9NS62-2] ENST00000648254; ENSP00000497520; ENSG00000136114 [Q9NS62-2] |
GeneIDi | 55901 |
KEGGi | hsa:55901 |
MANE-Selecti | ENST00000258613.5; ENSP00000258613.4; NM_018676.4; NP_061146.1 |
UCSCi | uc001vgo.4, human [Q9NS62-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
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 |
CCDSi | CCDS9432.1 [Q9NS62-1] CCDS9433.1 [Q9NS62-2] |
RefSeqi | NP_061146.1, NM_018676.3 [Q9NS62-1] NP_954872.1, NM_199263.2 [Q9NS62-2] |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 120988, 2 interactors |
CORUMi | Q9NS62 |
IntActi | Q9NS62, 1 interactor |
STRINGi | 9606.ENSP00000258613 |
PTM databases
GlyGeni | Q9NS62, 10 sites, 2 O-linked glycans (3 sites) |
iPTMneti | Q9NS62 |
PhosphoSitePlusi | Q9NS62 |
Genetic variation databases
BioMutai | THSD1 |
DMDMi | 74752936 |
Proteomic databases
EPDi | Q9NS62 |
jPOSTi | Q9NS62 |
MassIVEi | Q9NS62 |
PaxDbi | Q9NS62 |
PeptideAtlasi | Q9NS62 |
PRIDEi | Q9NS62 |
ProteomicsDBi | 82492 [Q9NS62-1] 82493 [Q9NS62-2] 82494 [Q9NS62-3] |
Protocols and materials databases
Antibodypediai | 2452, 236 antibodies from 23 providers |
DNASUi | 55901 |
Genome annotation databases
Ensembli | ENST00000258613; ENSP00000258613; ENSG00000136114 ENST00000349258; ENSP00000340650; ENSG00000136114 [Q9NS62-2] ENST00000648254; ENSP00000497520; ENSG00000136114 [Q9NS62-2] |
GeneIDi | 55901 |
KEGGi | hsa:55901 |
MANE-Selecti | ENST00000258613.5; ENSP00000258613.4; NM_018676.4; NP_061146.1 |
UCSCi | uc001vgo.4, human [Q9NS62-1] |
Organism-specific databases
CTDi | 55901 |
DisGeNETi | 55901 |
GeneCardsi | THSD1 |
HGNCi | HGNC:17754, THSD1 |
HPAi | ENSG00000136114, Low tissue specificity |
MalaCardsi | THSD1 |
MIMi | 616821, gene 618734, phenotype |
neXtProti | NX_Q9NS62 |
OpenTargetsi | ENSG00000136114 |
Orphaneti | 231160, Familial cerebral saccular aneurysm 363999, Non-immune hydrops fetalis |
PharmGKBi | PA134937912 |
VEuPathDBi | HostDB:ENSG00000136114 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502QY3P, Eukaryota |
GeneTreei | ENSGT00390000013335 |
HOGENOMi | CLU_336470_0_0_1 |
InParanoidi | Q9NS62 |
OMAi | RNMETWS |
PhylomeDBi | Q9NS62 |
TreeFami | TF333148 |
Enzyme and pathway databases
PathwayCommonsi | Q9NS62 |
Reactomei | R-HSA-5083635, Defective B3GALTL causes PpS R-HSA-5173214, O-glycosylation of TSR domain-containing proteins |
SignaLinki | Q9NS62 |
Miscellaneous databases
BioGRID-ORCSi | 55901, 4 hits in 1032 CRISPR screens |
ChiTaRSi | THSD1, human |
GeneWikii | THSD1 |
GenomeRNAii | 55901 |
Pharosi | Q9NS62, Tbio |
PROi | PR:Q9NS62 |
RNActi | Q9NS62, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000136114, Expressed in lung and 111 other tissues |
ExpressionAtlasi | Q9NS62, baseline and differential |
Genevisiblei | Q9NS62, HS |
Family and domain databases
Gene3Di | 2.20.100.10, 1 hit |
InterProi | View protein in InterPro IPR038877, THSD1 IPR000884, TSP1_rpt IPR036383, TSP1_rpt_sf |
PANTHERi | PTHR16311, PTHR16311, 1 hit |
Pfami | View protein in Pfam PF00090, TSP_1, 1 hit |
SMARTi | View protein in SMART SM00209, TSP1, 1 hit |
SUPFAMi | SSF82895, SSF82895, 1 hit |
PROSITEi | View protein in PROSITE PS50092, TSP1, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | THSD1_HUMAN | |
Accessioni | Q9NS62Primary (citable) accession number: Q9NS62 Secondary accession number(s): A2A3J3 Q6UXZ2 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | September 19, 2006 |
Last sequence update: | October 1, 2000 | |
Last modified: | February 23, 2022 | |
This is version 146 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 13
Human chromosome 13: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot