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    Thsd4 thrombospondin, type I, domain containing 4 [ Mus musculus (house mouse) ]

    Gene ID: 207596, updated on 4-Jan-2025

    Summary

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    Official Symbol
    Thsd4provided by MGI
    Official Full Name
    thrombospondin, type I, domain containing 4provided by MGI
    Primary source
    MGI:MGI:2672033
    See related
    Ensembl:ENSMUSG00000032289 AllianceGenome:MGI:2672033
    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
    ADAMTSL6; Adamtsl4; ADAMTSL-6; B230114P05Rik
    Summary
    Predicted to enable hydrolase activity. Acts upstream of or within elastic fiber assembly. Located in microfibril. Is expressed in several structures, including alimentary system; cardiovascular system; connective tissue; forebrain; and metatarsal bone. Human ortholog(s) of this gene implicated in thoracic aortic aneurysm. Orthologous to human THSD4 (thrombospondin type 1 domain containing 4). [provided by Alliance of Genome Resources, Jan 2025]
    Expression
    Broad expression in limb E14.5 (RPKM 8.5), bladder adult (RPKM 6.0) and 23 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Thsd4 in Genome Data Viewer
    Location:
    9 B; 9 32.38 cM
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 9 NC_000075.7 (59874214..60429394, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 9 NC_000075.6 (59966931..60522113, complement)

    Chromosome 9 - NC_000075.7Genomic Context describing neighboring genes Neighboring gene myosin IXa Neighboring gene STARR-seq mESC enhancer starr_24313 Neighboring gene predicted gene, 20275 Neighboring gene 60S ribosomal protein L37 pseudogene Neighboring gene STARR-seq mESC enhancer starr_24314 Neighboring gene predicted gene 7616 Neighboring gene nuclear receptor subfamily 2, group E, member 3 Neighboring gene STARR-seq mESC enhancer starr_24316 Neighboring gene STARR-seq mESC enhancer starr_24317 Neighboring gene STARR-seq mESC enhancer starr_24318 Neighboring gene STARR-seq mESC enhancer starr_24319 Neighboring gene RIKEN cDNA 2010001M07 gene Neighboring gene predicted gene, 22099 Neighboring gene RIKEN cDNA 9230112J17 gene Neighboring gene STARR-seq mESC enhancer starr_24321 Neighboring gene STARR-seq mESC enhancer starr_24322 Neighboring gene predicted gene, 51679 Neighboring gene annexin A7 pseudogene

    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
    • 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. Pathogenic variants in THSD4, encoding the ADAMTS-like 6 protein, predispose to inherited thoracic aortic aneurysm. Elbitar S, et al. Genet Med, 2021 Jan. PMID 32855533, Free PMC Article
    2. Cardiac physiologic and genetic predictors of hyperoxia-induced acute lung injury in mice. Howden R, et al. Am J Respir Cell Mol Biol, 2012 Apr. PMID 22052878, Free PMC Article
    3. ADAMTSL6β protein rescues fibrillin-1 microfibril disorder in a Marfan syndrome mouse model through the promotion of fibrillin-1 assembly. Saito M, et al. J Biol Chem, 2011 Nov 4. PMID 21880733, Free PMC Article
    4. ADAMTSL-6 is a novel extracellular matrix protein that binds to fibrillin-1 and promotes fibrillin-1 fibril formation. Tsutsui K, et al. J Biol Chem, 2010 Feb 12. PMID 19940141, Free PMC Article
    5. Altered gene expression and spongiotrophoblast differentiation in placenta from a mouse model of diabetes in pregnancy. Salbaum JM, et al. Diabetologia, 2011 Jul. PMID 21491160, Free PMC Article

    See all (22) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Pathogenic variants in THSD4, encoding the ADAMTS-like 6 protein, predispose to inherited thoracic aortic aneurysm.
      Title: Pathogenic variants in THSD4, encoding the ADAMTS-like 6 protein, predispose to inherited thoracic aortic aneurysm.
    2. ADAMTSL6beta has a role in fibrillin-1 microfibril formation
      Title: ADAMTSL6β protein rescues fibrillin-1 microfibril disorder in a Marfan syndrome mouse model through the promotion of fibrillin-1 assembly.
    3. Results indicated that ADAMTSL-6 is a novel microfibril-associated protein that binds directly to fibrillin-1 and promotes fibrillin-1 matrix assembly.
      Title: ADAMTSL-6 is a novel extracellular matrix protein that binds to fibrillin-1 and promotes fibrillin-1 fibril formation.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (3) 
    • Targeted (2)  1 citation

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_or_within elastic fiber assembly IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in microfibril assembly ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in microfibril assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in extracellular matrix IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in microfibril IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in microfibril ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    thrombospondin type-1 domain-containing protein 4
    Names
    A disintegrin and metalloproteinase with thrombospondin motifs-like protein 6
    ADAMTS-like protein 4
    ADAMTS-like protein 6
    ADAMTSL-4

    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_001040426.3 → NP_001035516.2  thrombospondin type-1 domain-containing protein 4 isoform a precursor

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      AC131749, AK138976
      Consensus CDS
      CCDS40661.1
      UniProtKB/Swiss-Prot
      Q3UTY6, Q8BLE5
      Related
      ENSMUSP00000096257.4, ENSMUST00000098660.10
      Conserved Domains (4) summary
      smart00209
      Location:57 → 81
      TSP1; Thrombospondin type 1 repeats
      pfam05986
      Location:412 → 528
      ADAM_spacer1; ADAM-TS Spacer 1
      pfam08686
      Location:975 → 1005
      PLAC; PLAC (protease and lacunin) domain
      pfam19030
      Location:856 → 912
      TSP1_ADAMTS; Thrombospondin type 1 domain

    2. NM_172444.4 → NP_766032.1  thrombospondin type-1 domain-containing protein 4 isoform b precursor

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (b) has a distinct N-terminus and is shorter than isoform a.
      Source sequence(s)
      AC131749, AK045414, CV559893
      Consensus CDS
      CCDS23256.1
      UniProtKB/TrEMBL
      B2RTG1
      Related
      ENSMUSP00000034829.6, ENSMUST00000034829.6
      Conserved Domains (4) summary
      smart00209
      Location:559 → 607
      TSP1; Thrombospondin type 1 repeats
      pfam05986
      Location:52 → 168
      ADAM_spacer1; ADAM-TS Spacer 1
      pfam08686
      Location:615 → 645
      PLAC; PLAC (protease and lacunin) domain
      pfam16885
      Location:179 → 255
      CAC1F_C; Voltage-gated calcium channel subunit alpha, C-term

    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_000075.7 Reference GRCm39 C57BL/6J

      Range
      59874214..60429394 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006510906.5 → XP_006510969.1  thrombospondin type-1 domain-containing protein 4 isoform X1

      UniProtKB/Swiss-Prot
      Q3UTY6, Q8BLE5
      Conserved Domains (4) summary
      smart00209
      Location:57 → 81
      TSP1; Thrombospondin type 1 repeats
      pfam05986
      Location:412 → 528
      ADAM_spacer1; ADAM-TS Spacer 1
      pfam08686
      Location:975 → 1005
      PLAC; PLAC (protease and lacunin) domain
      pfam19030
      Location:856 → 912
      TSP1_ADAMTS; Thrombospondin type 1 domain

    2. XM_006510907.4 → XP_006510970.1  thrombospondin type-1 domain-containing protein 4 isoform X1

      UniProtKB/Swiss-Prot
      Q3UTY6, Q8BLE5
      Related
      ENSMUSP00000131418.2, ENSMUST00000171654.8
      Conserved Domains (4) summary
      smart00209
      Location:57 → 81
      TSP1; Thrombospondin type 1 repeats
      pfam05986
      Location:412 → 528
      ADAM_spacer1; ADAM-TS Spacer 1
      pfam08686
      Location:975 → 1005
      PLAC; PLAC (protease and lacunin) domain
      pfam19030
      Location:856 → 912
      TSP1_ADAMTS; Thrombospondin type 1 domain

    3. XM_036154759.1 → XP_036010652.1  thrombospondin type-1 domain-containing protein 4 isoform X1

      UniProtKB/Swiss-Prot
      Q3UTY6, Q8BLE5
      Conserved Domains (4) summary
      smart00209
      Location:57 → 81
      TSP1; Thrombospondin type 1 repeats
      pfam05986
      Location:412 → 528
      ADAM_spacer1; ADAM-TS Spacer 1
      pfam08686
      Location:975 → 1005
      PLAC; PLAC (protease and lacunin) domain
      pfam19030
      Location:856 → 912
      TSP1_ADAMTS; Thrombospondin type 1 domain
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q3UTY6.2 GenPept UniProtKB/Swiss-Prot:Q3UTY6

    Gene LinkOut

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