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    ADAMTSL5 ADAMTS like 5 [ Homo sapiens (human) ]

    Gene ID: 339366, updated on 2-Nov-2024

    Summary

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    Official Symbol
    ADAMTSL5provided by HGNC
    Official Full Name
    ADAMTS like 5provided by HGNC
    Primary source
    HGNC:HGNC:27912
    See related
    Ensembl:ENSG00000185761 AllianceGenome:HGNC:27912
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    THSD6
    Summary
    Enables heparin binding activity and microfibril binding activity. Predicted to be involved in extracellular matrix organization. Located in extracellular region and microfibril. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in endometrium (RPKM 3.3), heart (RPKM 2.8) and 21 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ADAMTSL5 in Genome Data Viewer
    Location:
    19p13.3
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (1505022..1513019, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (1475471..1483468, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (1505021..1513018, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:1482223-1482834 Neighboring gene proprotein convertase subtilisin/kexin type 4 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9722 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9723 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9724 Neighboring gene receptor accessory protein 6 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:1497018-1497572 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:1507743-1508592 Neighboring gene uncharacterized LOC124904609 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9726 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9727 Neighboring gene uncharacterized LOC107985337 Neighboring gene polo like kinase 5 (inactive)

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Circular RNA circPFKP suppresses the proliferation and metastasis of gastric cancer cell via sponging miR-644 and regulating ADAMTSL5 expression. Kong S, et al. Bioengineered, 2022 May. PMID 35587154, Free PMC Article
    2. Melanocyte antigen triggers autoimmunity in human psoriasis. Arakawa A, et al. J Exp Med, 2015 Dec 14. PMID 26621454, Free PMC Article
    3. ADAMTSL5 and CDH11: putative epigenetic markers for therapeutic resistance in acute lymphoblastic leukemia. Abdullah M, et al. Hematology, 2017 Aug. PMID 28292214
    4. A disintegrin-like and metalloprotease domain containing thrombospondin type 1 motif-like 5 (ADAMTSL5) is a novel fibrillin-1-, fibrillin-2-, and heparin-binding member of the ADAMTS superfamily containing a netrin-like module. Bader HL, et al. Matrix Biol, 2012 Sep-Oct. PMID 23010571, Free PMC Article
    5. Pan-genome isolation of low abundance transcripts using SAGE tag. Kim YC, et al. FEBS Lett, 2006 Dec 11. PMID 17113583, Free PMC Article

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Circular RNA circPFKP suppresses the proliferation and metastasis of gastric cancer cell via sponging miR-644 and regulating ADAMTSL5 expression.
      Title: Circular RNA circPFKP suppresses the proliferation and metastasis of gastric cancer cell via sponging miR-644 and regulating ADAMTSL5 expression.
    2. Chemoresistant B-ALL patients are associated with increased methylation in ADAMTSL5 and CDH11.
      Title: ADAMTSL5 and CDH11: putative epigenetic markers for therapeutic resistance in acute lymphoblastic leukemia.
    3. ADAMTSL5 could have a role in modulating microfibril functions.
      Title: A disintegrin-like and metalloprotease domain containing thrombospondin type 1 motif-like 5 (ADAMTSL5) is a novel fibrillin-1-, fibrillin-2-, and heparin-binding member of the ADAMTS superfamily containing a netrin-like module.
    4. Observational study of gene-disease association. (HuGE Navigator)
      Title: Association of genetic variants with hemorrhagic stroke in Japanese individuals.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables heparin binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables microfibril binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in extracellular matrix organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in extracellular matrix IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in extracellular region IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in microfibril IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    ADAMTS-like protein 5
    Names
    ADAMTSL-5
    thrombospondin type-1 domain-containing protein 6
    thrombospondin, type I, domain containing 6

    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_001367197.1 → NP_001354126.1  ADAMTS-like protein 5 isoform 1 precursor

      Status: VALIDATED

      Source sequence(s)
      AC027307, AW167554, BX951496
      UniProtKB/Swiss-Prot
      B4DXK7, Q6ZMM2, Q8IW95
      Conserved Domains (4) summary
      smart00209
      Location:48 → 97
      TSP1; Thrombospondin type 1 repeats
      cd03523
      Location:375 → 476
      NTR_like; NTR_like domain; a beta barrel with an oligosaccharide/oligonucleotide-binding fold found in netrins, complement proteins, tissue inhibitors of metalloproteases (TIMP), and procollagen C-proteinase enhancers (PCOLCE), amongst others. In netrins, the ...
      pfam05986
      Location:206 → 311
      ADAM_spacer1; ADAM-TS Spacer 1
      cl15456
      Location:106 → 174
      ADAM_CR; ADAM cysteine-rich

    2. NM_213604.3 → NP_998769.2  ADAMTS-like protein 5 isoform 2 precursor

      Status: VALIDATED

      Source sequence(s)
      AK131571, BC040620, BC119796, DR979736
      Consensus CDS
      CCDS12071.1
      UniProtKB/TrEMBL
      X6R4H8
      Related
      ENSP00000327608.3, ENST00000330475.9
      Conserved Domains (4) summary
      smart00209
      Location:38 → 87
      TSP1; Thrombospondin type 1 repeats
      cd03523
      Location:365 → 466
      NTR_like; NTR_like domain; a beta barrel with an oligosaccharide/oligonucleotide-binding fold found in netrins, complement proteins, tissue inhibitors of metalloproteases (TIMP), and procollagen C-proteinase enhancers (PCOLCE), amongst others. In netrins, the ...
      pfam05986
      Location:196 → 301
      ADAM_spacer1; ADAM-TS Spacer 1
      cl15456
      Location:96 → 164
      ADAM_CR; ADAM cysteine-rich

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      1505022..1513019 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047438758.1 → XP_047294714.1  ADAMTS-like protein 5 isoform X5

      UniProtKB/TrEMBL
      A4QPG6

    2. XM_047438757.1 → XP_047294713.1  ADAMTS-like protein 5 isoform X5

      UniProtKB/TrEMBL
      A4QPG6

    3. XM_047438756.1 → XP_047294712.1  ADAMTS-like protein 5 isoform X5

      UniProtKB/TrEMBL
      A4QPG6

    4. XM_047438755.1 → XP_047294711.1  ADAMTS-like protein 5 isoform X5

      UniProtKB/TrEMBL
      A4QPG6

    5. XM_011527961.2 → XP_011526263.1  ADAMTS-like protein 5 isoform X1

      Conserved Domains (4) summary
      smart00209
      Location:48 → 97
      TSP1; Thrombospondin type 1 repeats
      cd03523
      Location:379 → 480
      NTR_like; NTR_like domain; a beta barrel with an oligosaccharide/oligonucleotide-binding fold found in netrins, complement proteins, tissue inhibitors of metalloproteases (TIMP), and procollagen C-proteinase enhancers (PCOLCE), amongst others. In netrins, the ...
      pfam05986
      Location:206 → 315
      ADAM_spacer1; ADAM-TS Spacer 1
      cl15456
      Location:106 → 174
      ADAM_CR; ADAM cysteine-rich

    6. XM_017026745.2 → XP_016882234.1  ADAMTS-like protein 5 isoform X3

      UniProtKB/TrEMBL
      X6R4H8
      Conserved Domains (4) summary
      smart00209
      Location:38 → 87
      TSP1; Thrombospondin type 1 repeats
      cd03523
      Location:365 → 466
      NTR_like; NTR_like domain; a beta barrel with an oligosaccharide/oligonucleotide-binding fold found in netrins, complement proteins, tissue inhibitors of metalloproteases (TIMP), and procollagen C-proteinase enhancers (PCOLCE), amongst others. In netrins, the ...
      pfam05986
      Location:196 → 301
      ADAM_spacer1; ADAM-TS Spacer 1
      cl15456
      Location:96 → 164
      ADAM_CR; ADAM cysteine-rich

    7. XM_047438751.1 → XP_047294707.1  ADAMTS-like protein 5 isoform X2

    8. XM_047438754.1 → XP_047294710.1  ADAMTS-like protein 5 isoform X4

    9. XM_047438752.1 → XP_047294708.1  ADAMTS-like protein 5 isoform X4

    10. XM_047438753.1 → XP_047294709.1  ADAMTS-like protein 5 isoform X4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      1475471..1483468 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054320836.1 → XP_054176811.1  ADAMTS-like protein 5 isoform X5

      UniProtKB/TrEMBL
      A4QPG6

    2. XM_054320835.1 → XP_054176810.1  ADAMTS-like protein 5 isoform X5

      UniProtKB/TrEMBL
      A4QPG6

    3. XM_054320834.1 → XP_054176809.1  ADAMTS-like protein 5 isoform X5

      UniProtKB/TrEMBL
      A4QPG6

    4. XM_054320833.1 → XP_054176808.1  ADAMTS-like protein 5 isoform X5

      UniProtKB/TrEMBL
      A4QPG6

    5. XM_054320827.1 → XP_054176802.1  ADAMTS-like protein 5 isoform X1

    6. XM_054320829.1 → XP_054176804.1  ADAMTS-like protein 5 isoform X3

      UniProtKB/TrEMBL
      X6R4H8

    7. XM_054320828.1 → XP_054176803.1  ADAMTS-like protein 5 isoform X2

    8. XM_054320832.1 → XP_054176807.1  ADAMTS-like protein 5 isoform X4

    9. XM_054320830.1 → XP_054176805.1  ADAMTS-like protein 5 isoform X4

    10. XM_054320831.1 → XP_054176806.1  ADAMTS-like protein 5 isoform X4

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6ZMM2.3 GenPept UniProtKB/Swiss-Prot:Q6ZMM2

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