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    ADAMTSL3 ADAMTS like 3 [ Homo sapiens (human) ]

    Gene ID: 57188, updated on 27-Nov-2024

    Summary

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    Official Symbol
    ADAMTSL3provided by HGNC
    Official Full Name
    ADAMTS like 3provided by HGNC
    Primary source
    HGNC:HGNC:14633
    See related
    Ensembl:ENSG00000156218 MIM:609199; AllianceGenome:HGNC:14633
    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
    ADAMTSL-3
    Summary
    Predicted to be involved in extracellular matrix organization. Located in intracellular membrane-bounded organelle. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in lung (RPKM 4.5), placenta (RPKM 4.0) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ADAMTSL3 in Genome Data Viewer
    Location:
    15q25.2
    Exon count:
    34
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (83654123..84039842)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (81522060..81905793)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (84322875..84708594)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370934 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:84047926-84049125 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:84052681-84053310 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr15:84067046-84068245 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9972 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9973 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:84124682-84125286 Neighboring gene SH3 domain containing GRB2 like 3, endophilin A3 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:84198348-84198848 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_41536 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_41540 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_41539 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_41541 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_41543 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_41546 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:84361608-84362108 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:84362109-84362609 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_41575 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_41592 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_41598 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_41616 Neighboring gene RNA, U6 small nuclear 401, pseudogene Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_41626 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9974 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_41632 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_41636 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_41638 Neighboring gene tubulin alpha pseudogene 4 Neighboring gene RNA, U6 small nuclear 1339, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9975 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9976 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9977 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9978 Neighboring gene uncharacterized LOC105370935 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6764 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9979 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9980 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_41714 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_41724 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:84710870-84712069 Neighboring gene stabilizer of axonemal microtubules 2 pseudogene Neighboring gene elongation factor like GTPase 1 pseudogene 1

    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
    • 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. Whole-exome sequencing in a Japanese family with highly aggregated diabetes identifies a candidate susceptibility mutation in ADAMTSL3. Jambaljav B, et al. Diabetes Res Clin Pract, 2018 Jan. PMID 29162515
    2. ADAMTSL3/punctin-2, a gene frequently mutated in colorectal tumors, is widely expressed in normal and malignant epithelial cells, vascular endothelial cells and other cell types, and its mRNA is reduced in colon cancer. Koo BH, et al. Int J Cancer, 2007 Oct 15. PMID 17597111
    3. ADAMTSL3 as a candidate gene for schizophrenia: gene sequencing and ultra-high density association analysis by imputation. Dow DJ, et al. Schizophr Res, 2011 Apr. PMID 21239144
    4. Nonmosaic tetrasomy 15q25.2 → qter identified with SNP microarray in a patient with characteristic facial appearance and review of the literature. Xu H, et al. Eur J Med Genet, 2014 Jul. PMID 24793337
    5. Genome-wide CRISPR knockout screens identify ADAMTSL3 and PTEN genes as suppressors of HCC proliferation and metastasis, respectively. Zhou X, et al. J Cancer Res Clin Oncol, 2020 Jun. PMID 32266537

    See all (27) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. knocking out either the ADAMTSL3 or PTEN genes promoted either the proliferation or metastasis of hepatocellular carcinoma cells, respectively
      Title: Genome-wide CRISPR knockout screens identify ADAMTSL3 and PTEN genes as suppressors of HCC proliferation and metastasis, respectively.
    2. A137T in ADAMTSL3 may be a susceptibility mutation for diabetes.
      Title: Whole-exome sequencing in a Japanese family with highly aggregated diabetes identifies a candidate susceptibility mutation in ADAMTSL3.
    3. Compared with the George-Abraham' study [2012], ADAMTSL3 might be more related to the cardiac disorders in tetrasomy 15q patients
      Title: Nonmosaic tetrasomy 15q25.2 → qter identified with SNP microarray in a patient with characteristic facial appearance and review of the literature.
    4. The results of this study suggested that the ADAMTSL3 as a candidate gene for schizophrenia.
      Title: ADAMTSL3 as a candidate gene for schizophrenia: gene sequencing and ultra-high density association analysis by imputation.
    5. Observational study of gene-disease association. (HuGE Navigator)
      Title: The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature.
    6. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
      Title: Genome-wide association study of height and body mass index in Australian twin families.
    7. ADAMTSL3 is expressed in numerous tissues, suggesting a broader regulatory role than in colorectal epithelium alone, and that colorectal cancer has both structural mutations as well as decreased expression of ADAMTSL3.
      Title: ADAMTSL3/punctin-2, a gene frequently mutated in colorectal tumors, is widely expressed in normal and malignant epithelial cells, vascular endothelial cells and other cell types, and its mRNA is reduced in colon cancer.
    8. Highest expression of ADAMTSL3 was found in liver, kidney, heart and skeletal muscle.
      Title: ADAMTSL-3/punctin-2, a novel glycoprotein in extracellular matrix related to the ADAMTS family of metalloproteases.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    A genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci.
    EBI GWAS Catalog
    Biological insights from 108 schizophrenia-associated genetic loci.
    EBI GWAS Catalog
    Genome-wide association analysis identifies 20 loci that influence adult height.
    EBI GWAS Catalog
    Genome-wide association study of height and body mass index in Australian twin families.
    EBI GWAS Catalog
    Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
    EBI GWAS Catalog
    Hundreds of variants clustered in genomic loci and biological pathways affect human height.
    EBI GWAS Catalog
    Identification of ten loci associated with height highlights new biological pathways in human growth.
    EBI GWAS Catalog
    Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry.
    EBI GWAS Catalog
    Many sequence variants affecting diversity of adult human height.
    EBI GWAS Catalog
    Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
    EBI GWAS Catalog
    Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA1233, MGC150716, MGC150717

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    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
    is_active_in extracellular matrix IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    ADAMTS-like protein 3
    Names
    a disintegrin-like and metalloprotease domain with thrombospondin type I motifs-like 3
    punctin-2

    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_001301110.2 → NP_001288039.1  ADAMTS-like protein 3 isoform b precursor

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses two alternate splice sites that result in a frameshift in the 3' coding region, compared to variant 1. The encoded isoform (b) has a distinct C-terminus and is shorter than isoform a.
      Source sequence(s)
      AC027807, AC116157, AW029535, BC128390
      Consensus CDS
      CCDS73773.1
      UniProtKB/Swiss-Prot
      P82987
      Related
      ENSP00000456313.1, ENST00000567476.1
      Conserved Domains (6) summary
      cd00096
      Location:1211 → 1275
      Ig; Immunoglobulin domain
      smart00408
      Location:1314 → 1374
      IGc2; Immunoglobulin C-2 Type
      smart00209
      Location:78 → 124
      TSP1; Thrombospondin type 1 repeats
      smart00410
      Location:1309 → 1383
      IG_like; Immunoglobulin like
      cl11960
      Location:929 → 993
      Ig; Immunoglobulin domain
      cl15278
      Location:1489 → 1544
      TSP_1; Thrombospondin type 1 domain

    2. NM_207517.3 → NP_997400.2  ADAMTS-like protein 3 isoform a precursor

      See identical proteins and their annotated locations for NP_997400.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      AC027807, AC116157, AF237652, BC128389
      Consensus CDS
      CCDS10326.1
      UniProtKB/Swiss-Prot
      A1A566, A1A567, P82987, Q9ULI7
      Related
      ENSP00000286744.5, ENST00000286744.10
      Conserved Domains (7) summary
      cd00096
      Location:1211 → 1275
      Ig; Immunoglobulin domain
      smart00408
      Location:1314 → 1374
      IGc2; Immunoglobulin C-2 Type
      smart00209
      Location:78 → 124
      TSP1; Thrombospondin type 1 repeats
      smart00410
      Location:1309 → 1383
      IG_like; Immunoglobulin like
      pfam08686
      Location:1659 → 1689
      PLAC; PLAC (protease and lacunin) domain
      cl11960
      Location:929 → 993
      Ig; Immunoglobulin domain
      cl15278
      Location:1489 → 1544
      TSP_1; Thrombospondin type 1 domain

    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_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      83654123..84039842
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011521823.3 → XP_011520125.1  ADAMTS-like protein 3 isoform X3

      Conserved Domains (6) summary
      cd00096
      Location:1238 → 1302
      Ig; Immunoglobulin domain
      smart00408
      Location:1341 → 1401
      IGc2; Immunoglobulin C-2 Type
      smart00209
      Location:78 → 124
      TSP1; Thrombospondin type 1 repeats
      smart00410
      Location:1336 → 1410
      IG_like; Immunoglobulin like
      cl11960
      Location:956 → 1020
      Ig; Immunoglobulin domain
      cl15278
      Location:1516 → 1571
      TSP_1; Thrombospondin type 1 domain

    2. XM_017022434.2 → XP_016877923.1  ADAMTS-like protein 3 isoform X2

      Conserved Domains (6) summary
      cd00096
      Location:1238 → 1302
      Ig; Immunoglobulin domain
      smart00408
      Location:1341 → 1401
      IGc2; Immunoglobulin C-2 Type
      smart00209
      Location:78 → 124
      TSP1; Thrombospondin type 1 repeats
      smart00410
      Location:1336 → 1410
      IG_like; Immunoglobulin like
      cl11960
      Location:956 → 1020
      Ig; Immunoglobulin domain
      cl15278
      Location:1516 → 1571
      TSP_1; Thrombospondin type 1 domain

    3. XM_011521822.3 → XP_011520124.1  ADAMTS-like protein 3 isoform X1

      Conserved Domains (7) summary
      cd00096
      Location:1238 → 1302
      Ig; Immunoglobulin domain
      smart00408
      Location:1341 → 1401
      IGc2; Immunoglobulin C-2 Type
      smart00209
      Location:78 → 124
      TSP1; Thrombospondin type 1 repeats
      smart00410
      Location:1336 → 1410
      IG_like; Immunoglobulin like
      pfam08686
      Location:1686 → 1716
      PLAC; PLAC (protease and lacunin) domain
      cl11960
      Location:956 → 1020
      Ig; Immunoglobulin domain
      cl15278
      Location:1516 → 1571
      TSP_1; Thrombospondin type 1 domain

    4. XM_011521824.3 → XP_011520126.1  ADAMTS-like protein 3 isoform X4

      Conserved Domains (6) summary
      cd00096
      Location:1238 → 1302
      Ig; Immunoglobulin domain
      smart00408
      Location:1341 → 1401
      IGc2; Immunoglobulin C-2 Type
      smart00209
      Location:78 → 124
      TSP1; Thrombospondin type 1 repeats
      smart00410
      Location:1336 → 1410
      IG_like; Immunoglobulin like
      cl11960
      Location:956 → 1020
      Ig; Immunoglobulin domain
      cl15278
      Location:1516 → 1571
      TSP_1; Thrombospondin type 1 domain

    5. XM_047432886.1 → XP_047288842.1  ADAMTS-like protein 3 isoform X6

    6. XM_047432887.1 → XP_047288843.1  ADAMTS-like protein 3 isoform X7

    7. XM_011521825.3 → XP_011520127.1  ADAMTS-like protein 3 isoform X8

      Related
      ENST00000561483.5
      Conserved Domains (5) summary
      cd00096
      Location:1238 → 1302
      Ig; Immunoglobulin domain
      smart00408
      Location:1341 → 1401
      IGc2; Immunoglobulin C-2 Type
      smart00209
      Location:78 → 124
      TSP1; Thrombospondin type 1 repeats
      smart00410
      Location:1336 → 1410
      IG_like; Immunoglobulin like
      cl11960
      Location:956 → 1020
      Ig; Immunoglobulin domain

    8. XM_047432888.1 → XP_047288844.1  ADAMTS-like protein 3 isoform X9

    9. XM_047432889.1 → XP_047288845.1  ADAMTS-like protein 3 isoform X10

    10. XM_047432885.1 → XP_047288841.1  ADAMTS-like protein 3 isoform X5

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_025791797.1 Reference GRCh38.p14 PATCHES

      Range
      259917..645636
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054333160.1 → XP_054189135.1  ADAMTS-like protein 3 isoform X3

    2. XM_054333159.1 → XP_054189134.1  ADAMTS-like protein 3 isoform X2

    3. XM_054333158.1 → XP_054189133.1  ADAMTS-like protein 3 isoform X1

    4. XM_054333161.1 → XP_054189136.1  ADAMTS-like protein 3 isoform X4

    5. XM_054333163.1 → XP_054189138.1  ADAMTS-like protein 3 isoform X6

    6. XM_054333164.1 → XP_054189139.1  ADAMTS-like protein 3 isoform X7

    7. XM_054333165.1 → XP_054189140.1  ADAMTS-like protein 3 isoform X8

    8. XM_054333166.1 → XP_054189141.1  ADAMTS-like protein 3 isoform X9

    9. XM_054333167.1 → XP_054189142.1  ADAMTS-like protein 3 isoform X10

    10. XM_054333162.1 → XP_054189137.1  ADAMTS-like protein 3 isoform X5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      81522060..81905793
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054378492.1 → XP_054234467.1  ADAMTS-like protein 3 isoform X3

    2. XM_054378491.1 → XP_054234466.1  ADAMTS-like protein 3 isoform X2

    3. XM_054378490.1 → XP_054234465.1  ADAMTS-like protein 3 isoform X1

    4. XM_054378493.1 → XP_054234468.1  ADAMTS-like protein 3 isoform X4

    5. XM_054378495.1 → XP_054234470.1  ADAMTS-like protein 3 isoform X6

    6. XM_054378496.1 → XP_054234471.1  ADAMTS-like protein 3 isoform X7

    7. XM_054378497.1 → XP_054234472.1  ADAMTS-like protein 3 isoform X8

    8. XM_054378498.1 → XP_054234473.1  ADAMTS-like protein 3 isoform X9

    9. XM_054378499.1 → XP_054234474.1  ADAMTS-like protein 3 isoform X10

    10. XM_054378494.1 → XP_054234469.1  ADAMTS-like protein 3 isoform X5

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P82987.4 GenPept UniProtKB/Swiss-Prot:P82987

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