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    Thsd1 thrombospondin, type I, domain 1 [ Mus musculus (house mouse) ]

    Gene ID: 56229, updated on 2-Nov-2024

    Summary

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    Official Symbol
    Thsd1provided by MGI
    Official Full Name
    thrombospondin, type I, domain 1provided by MGI
    Primary source
    MGI:MGI:1929096
    See related
    Ensembl:ENSMUSG00000031480 AllianceGenome:MGI:1929096
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Tmtsp; 4833423O18Rik
    Summary
    Predicted to enable extracellular matrix binding activity. Acts upstream of or within hematopoietic progenitor cell differentiation. Located in cell periphery; cell surface; and cytoplasm. Is expressed in several structures, including alimentary system; cardiovascular system; genitourinary system; immune system; and nervous system. Human ortholog(s) of this gene implicated in hereditary lymphedema and intracranial berry aneurysm 12. Orthologous to human THSD1 (thrombospondin type 1 domain containing 1). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in lung adult (RPKM 7.1), bladder adult (RPKM 3.0) and 25 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Thsd1 in Genome Data Viewer
    Location:
    8 A2; 8 11.16 cM
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 8 NC_000074.7 (22711623..22752973)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 8 NC_000074.6 (22220938..22262957)

    Chromosome 8 - NC_000074.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_20901 Neighboring gene predicted gene, 29878 Neighboring gene vacuolar protein sorting 36 Neighboring gene ribosomal protein L30, pseudogene 2 Neighboring gene transmembrane phosphatase with tensin homology Neighboring gene predicted gene, 46035 Neighboring gene solute carrier family 25 (mitochondrial carrier ornithine transporter), member 15 Neighboring gene STARR-positive B cell enhancer ABC_E6625

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. THSD1 preserves vascular integrity and protects against intraplaque haemorrhaging in ApoE-/- mice. Haasdijk RA, et al. Cardiovasc Res, 2016 May 1. PMID 26822228
    2. Genetic marking of hematopoietic stem and endothelial cells: identification of the Tmtsp gene encoding a novel cell surface protein with the thrombospondin-1 domain. Takayanagi S, et al. Blood, 2006 Jun 1. PMID 16455951
    3. Telencephalic embryonic subtractive sequences: a unique collection of neurodevelopmental genes. Bulfone A, et al. J Neurosci, 2005 Aug 17. PMID 16107646, Free PMC Article
    4. Nell1-deficient mice have reduced expression of extracellular matrix proteins causing cranial and vertebral defects. Desai J, et al. Hum Mol Genet, 2006 Apr 15. PMID 16537572
    5. A mouse knockout library for secreted and transmembrane proteins. Tang T, et al. Nat Biotechnol, 2010 Jul. PMID 20562862

    See all (21) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. THSD1 is a new regulator of endothelial barrier function during vascular development and protects intraplaque microvessels against haemorrhaging in advanced atherosclerotic lesions
      Title: THSD1 preserves vascular integrity and protects against intraplaque haemorrhaging in ApoE-/- mice.
    2. Expression profiling of Tmtsp demonstrated its specific expression in hematopoietic and endothelial cells
      Title: Genetic marking of hematopoietic stem and endothelial cells: identification of the Tmtsp gene encoding a novel cell surface protein with the thrombospondin-1 domain.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 
    • Targeted (4)  1 citation

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables extracellular matrix binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables extracellular matrix binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    involved_in focal adhesion assembly ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in focal adhesion assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    acts_upstream_of_or_within hematopoietic progenitor cell differentiation IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cell periphery IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cell periphery IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cell surface IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in endosome ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in endosome ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in endosome membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in focal adhesion ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in focal adhesion ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    thrombospondin type-1 domain-containing protein 1
    Names
    transmembrane molecule with thrombospondin module

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001205253.1 → NP_001192182.1  thrombospondin type-1 domain-containing protein 1 isoform 2

      See identical proteins and their annotated locations for NP_001192182.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks an exon in the 5' coding region and uses a downstream, in-frame start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus and lacks a predicted signal peptide, compared to isoform 1.
      Source sequence(s)
      AC121933, AK052555, BY075510
      Consensus CDS
      CCDS85512.1
      UniProtKB/Swiss-Prot
      Q8C7Q9, Q9JM61
      UniProtKB/TrEMBL
      A0A1B0GT60
      Related
      ENSMUSP00000148214.2, ENSMUST00000162447.2
      Conserved Domains (2) summary
      smart00209
      Location:281 → 330
      TSP1; Thrombospondin type 1 repeats
      PTZ00441
      Location:228 → 345
      PTZ00441; sporozoite surface protein 2 (SSP2); Provisional

    2. NM_001293688.1 → NP_001280617.1  thrombospondin type-1 domain-containing protein 1 isoform 3 precursor

      See identical proteins and their annotated locations for NP_001280617.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (3) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AC117665, AC121933, BC051957, BY075510
      Consensus CDS
      CCDS80862.1
      UniProtKB/Swiss-Prot
      Q8C7Q9, Q9JM61
      UniProtKB/TrEMBL
      G3XA27
      Related
      ENSMUSP00000125118.2, ENSMUST00000160585.2

    3. NM_019576.2 → NP_062522.1  thrombospondin type-1 domain-containing protein 1 isoform 1 precursor

      See identical proteins and their annotated locations for NP_062522.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC117665, AC121933
      Consensus CDS
      CCDS22172.1
      UniProtKB/Swiss-Prot
      Q8C7Q9, Q9JM61
      UniProtKB/TrEMBL
      A0A0R4J0U4
      Related
      ENSMUSP00000067701.4, ENSMUST00000069828.10
      Conserved Domains (2) summary
      smart00209
      Location:342 → 391
      TSP1; Thrombospondin type 1 repeats
      PTZ00441
      Location:289 → 406
      PTZ00441; sporozoite surface protein 2 (SSP2); Provisional

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000074.7 Reference GRCm39 C57BL/6J

      Range
      22711623..22752973
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006509174.5 → XP_006509237.1  thrombospondin type-1 domain-containing protein 1 isoform X1

      See identical proteins and their annotated locations for XP_006509237.1

      UniProtKB/Swiss-Prot
      Q8C7Q9, Q9JM61
      UniProtKB/TrEMBL
      A0A0R4J0U4
      Conserved Domains (2) summary
      smart00209
      Location:342 → 391
      TSP1; Thrombospondin type 1 repeats
      PTZ00441
      Location:289 → 406
      PTZ00441; sporozoite surface protein 2 (SSP2); Provisional

    2. XM_030243688.2 → XP_030099548.1  thrombospondin type-1 domain-containing protein 1 isoform X2

      UniProtKB/Swiss-Prot
      Q8C7Q9, Q9JM61
      Conserved Domains (2) summary
      smart00209
      Location:342 → 391
      TSP1; Thrombospondin type 1 repeats
      PTZ00441
      Location:289 → 406
      PTZ00441; sporozoite surface protein 2 (SSP2); Provisional

    3. XM_030243689.2 → XP_030099549.1  thrombospondin type-1 domain-containing protein 1 isoform X3

      UniProtKB/Swiss-Prot
      Q8C7Q9, Q9JM61
      UniProtKB/TrEMBL
      G3XA27

    4. XM_006509177.5 → XP_006509240.1  thrombospondin type-1 domain-containing protein 1 isoform X4

      UniProtKB/Swiss-Prot
      Q8C7Q9, Q9JM61

    5. XM_030243690.2 → XP_030099550.1  thrombospondin type-1 domain-containing protein 1 isoform X3

      UniProtKB/Swiss-Prot
      Q8C7Q9, Q9JM61
      UniProtKB/TrEMBL
      G3XA27

    6. XM_006509173.5 → XP_006509236.1  thrombospondin type-1 domain-containing protein 1 isoform X1

      See identical proteins and their annotated locations for XP_006509236.1

      UniProtKB/Swiss-Prot
      Q8C7Q9, Q9JM61
      UniProtKB/TrEMBL
      A0A0R4J0U4
      Conserved Domains (2) summary
      smart00209
      Location:342 → 391
      TSP1; Thrombospondin type 1 repeats
      PTZ00441
      Location:289 → 406
      PTZ00441; sporozoite surface protein 2 (SSP2); Provisional
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9JM61.2 GenPept UniProtKB/Swiss-Prot:Q9JM61

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