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

Gene ID: 56229, updated on 28-Oct-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, Oct 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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