Human Gene THSD1 (ENST00000258613.5) from GENCODE V44
  Description: Homo sapiens thrombospondin type 1 domain containing 1 (THSD1), transcript variant 1, mRNA. (from RefSeq NM_018676)
RefSeq Summary (NM_018676): The protein encoded by this gene contains a type 1 thrombospondin domain, which is found in a number of proteins involved in the complement pathway, as well as in extracellular matrix proteins. Alternatively spliced transcript variants encoding different isoforms have been observed for this gene. [provided by RefSeq, Jan 2009].
Gencode Transcript: ENST00000258613.5
Gencode Gene: ENSG00000136114.17
Transcript (Including UTRs)
   Position: hg38 chr13:52,377,167-52,406,172 Size: 29,006 Total Exon Count: 5 Strand: -
Coding Region
   Position: hg38 chr13:52,377,411-52,402,600 Size: 25,190 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr13:52,377,167-52,406,172)mRNA (may differ from genome)Protein (852 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: THSD1_HUMAN
DESCRIPTION: RecName: Full=Thrombospondin type-1 domain-containing protein 1; AltName: Full=Transmembrane molecule with thrombospondin module; Flags: Precursor;
SUBCELLULAR LOCATION: Isoform 1: Membrane; Single-pass type I membrane protein (Potential).
SUBCELLULAR LOCATION: Isoform 2: Membrane; Single-pass type I membrane protein (Potential).
SUBCELLULAR LOCATION: Isoform 3: Secreted.
SIMILARITY: Contains 1 TSP type-1 domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: THSD1
Diseases sorted by gene-association score: intracranial aneurysm (7), cerebral arterial disease (5)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 7.65 RPKM in Lung
Total median expression: 144.18 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -79.50223-0.357 Picture PostScript Text
3' UTR -59.90244-0.245 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000884 - Thrombospondin_1_rpt

Pfam Domains:
PF00090 - Thrombospondin type 1 domain

ModBase Predicted Comparative 3D Structure on Q9NS62
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsembl   
Protein SequenceProtein SequenceProtein Sequence   
AlignmentAlignmentAlignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Cellular Component:
GO:0005576 extracellular region
GO:0005829 cytosol
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  AY358149 - Homo sapiens clone DNA129620 THSD1 (UNQ3010) mRNA, complete cds.
BC063842 - Homo sapiens thrombospondin, type I, domain containing 1, mRNA (cDNA clone MGC:74971 IMAGE:6181100), complete cds.
AK298974 - Homo sapiens cDNA FLJ57564 complete cds, highly similar to Homo sapiens thrombospondin, type I, domain containing 1 (THSD1), transcript variant 1, mRNA.
AK096289 - Homo sapiens cDNA FLJ38970 fis, clone NT2RI2002391, highly similar to Homo sapiens thrombospondin, type I, domain containing 1 (THSD1), transcript variant 2, mRNA.
AB044385 - Homo sapiens TMTSP mRNA for transmembrane molecule with thrombospondin module, complete cds.
JD232277 - Sequence 213301 from Patent EP1572962.
JD046213 - Sequence 27237 from Patent EP1572962.
JD047233 - Sequence 28257 from Patent EP1572962.
AK315087 - Homo sapiens cDNA, FLJ96043, Homo sapiens thrombospondin, type I, domain 1 (THSD1), mRNA.
JD171761 - Sequence 152785 from Patent EP1572962.
JD167767 - Sequence 148791 from Patent EP1572962.
JD058252 - Sequence 39276 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9NS62 (Reactome details) participates in the following event(s):

R-HSA-5173005 B3GALTL transfers glucose to O-fucosyl-proteins
R-HSA-5173192 POFUT2 transfers fucose to TSR domain-containing proteins
R-HSA-5173214 O-glycosylation of TSR domain-containing proteins
R-HSA-5083635 Defective B3GALTL causes Peters-plus syndrome (PpS)
R-HSA-5173105 O-linked glycosylation
R-HSA-3906995 Diseases associated with O-glycosylation of proteins
R-HSA-597592 Post-translational protein modification
R-HSA-3781865 Diseases of glycosylation
R-HSA-392499 Metabolism of proteins
R-HSA-1643685 Disease

-  Other Names for This Gene
  Alternate Gene Symbols: A2A3J3, B2RCF5, ENST00000258613.1, ENST00000258613.2, ENST00000258613.3, ENST00000258613.4, NM_018676, Q6P3U1, Q6UXZ2, Q9NS62, THSD1_HUMAN, TMTSP, uc001vgo.1, uc001vgo.2, uc001vgo.3, uc001vgo.4, uc001vgo.5, UNQ3010/PRO9769
UCSC ID: ENST00000258613.5
RefSeq Accession: NM_018676
Protein: Q9NS62 (aka THSD1_HUMAN)
CCDS: CCDS9432.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.