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

Gene ID: 207596, updated on 16-Apr-2024

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 cricoid cartilage; diencephalon; lip; metatarsal bone; and trunk. Orthologous to human THSD4 (thrombospondin type 1 domain containing 4). [provided by Alliance of Genome Resources, Apr 2022]
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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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 (21) 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)
  • Targeted (2)  1 citation
  • Endonuclease-mediated (3) 

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 extracellular matrix organization IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in microfibril assembly ISO
Inferred from Sequence Orthology
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

    See identical proteins and their annotated locations for NP_001035516.2

    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

    See identical proteins and their annotated locations for NP_766032.1

    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

    See identical proteins and their annotated locations for XP_006510969.1

    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

    See identical proteins and their annotated locations for XP_006510970.1

    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

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