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ADAMTSL3 ADAMTS like 3 [ Homo sapiens (human) ]

Gene ID: 57188, updated on 5-Mar-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, Apr 2022]
Expression
Broad expression in lung (RPKM 4.5), placenta (RPKM 4.0) and 24 other tissues See more
Orthologs
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Genomic context

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Location:
15q25.2
Exon count:
34
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (83654123..84039842)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (81522060..81905793)
105.20220307 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. 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
  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. 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
  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)

Genotypes

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_2023_10

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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