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    ADAMTSL1 ADAMTS like 1 [ Homo sapiens (human) ]

    Gene ID: 92949, updated on 27-Nov-2024

    Summary

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    Official Symbol
    ADAMTSL1provided by HGNC
    Official Full Name
    ADAMTS like 1provided by HGNC
    Primary source
    HGNC:HGNC:14632
    See related
    Ensembl:ENSG00000178031 MIM:609198; AllianceGenome:HGNC:14632
    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
    C9orf94; PUNCTIN; ADAMTSR1; ADAMTSL-1
    Summary
    This gene encodes a secreted protein and member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) family. This protein lacks the metalloproteinase and disintegrin-like domains, which are typical of the ADAMTS family, but contains other ADAMTS domains, including the thrombospondin type 1 motif. This protein may have important functions in the extracellular matrix. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in endometrium (RPKM 1.9), prostate (RPKM 1.7) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ADAMTSL1 in Genome Data Viewer
    Location:
    9p22.2-p22.1
    Exon count:
    39
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (17906633..18910950)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (17919720..18923930)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (18474151..18910948)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107987051 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:17577876-17578074 Neighboring gene poly(A) binding protein cytoplasmic 1 pseudogene 11 Neighboring gene SH3 domain containing GRB2 like 2, endophilin A1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28217 Neighboring gene uncharacterized LOC105375987 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:17906806-17907350 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:17907351-17907895 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:18071016-18072215 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_107194 Neighboring gene pseudouridylate synthase 7 pseudogene 1 Neighboring gene NANOG hESC enhancer GRCh37_chr9:18285808-18286309 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr9:18333062-18333625 Neighboring gene uncharacterized LOC107986990 Neighboring gene VISTA enhancer hs2537 Neighboring gene NANOG hESC enhancer GRCh37_chr9:18366642-18367143 Neighboring gene uncharacterized LOC105369293 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:18438649-18439204 Neighboring gene NANOG hESC enhancer GRCh37_chr9:18606678-18607287 Neighboring gene uncharacterized LOC102724102 Neighboring gene microRNA 3152 Neighboring gene RN7SK pseudogene 258 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:18711541-18712126 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28218 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr9:18769932-18771131 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_107208 Neighboring gene uncharacterized LOC124902127 Neighboring gene RAP1B pseudogene 1 Neighboring gene uncharacterized LOC105375985 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:19032529-19033082 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:19033083-19033636 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:19049365-19049886 Neighboring gene stabilizer of axonemal microtubules 1 Neighboring gene proteasome 26S subunit, ATPase 3 pseudogene 1 Neighboring gene Ras related GTP binding A

    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. ADAMTSL1 and mandibular prognathism. Kantaputra PN, et al. Clin Genet, 2019 Apr. PMID 30714143
    2. Germline variation in ADAMTSL1 is associated with prognosis following breast cancer treatment in young women. Kadalayil L, et al. Nat Commun, 2017 Nov 21. PMID 29158497, Free PMC Article
    3. Identification and functional analysis of an ADAMTSL1 variant associated with a complex phenotype including congenital glaucoma, craniofacial, and other systemic features in a three-generation human pedigree. Hendee K, et al. Hum Mutat, 2017 Nov. PMID 28722276, Free PMC Article
    4. O-fucosylation of thrombospondin type 1 repeats in ADAMTS-like-1/punctin-1 regulates secretion: implications for the ADAMTS superfamily. Wang LW, et al. J Biol Chem, 2007 Jun 8. PMID 17395588
    5. Post-translational modification of thrombospondin type-1 repeats in ADAMTS-like 1/punctin-1 by C-mannosylation of tryptophan. Wang LW, et al. J Biol Chem, 2009 Oct 30. PMID 19671700, Free PMC Article

    See all (32) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. This explains why the patients with ADAMTSL1 mutations had abnormal mandibles but normal long bones. This is the first report that mutations in ADAMTSL1 are responsible for the pathogenesis of mandibular prognathism.
      Title: ADAMTSL1 and mandibular prognathism.
    2. ADAMTSL1 are associated with breast cancer prognosis and may involve an interaction with AREG expression.
      Title: Germline variation in ADAMTSL1 is associated with prognosis following breast cancer treatment in young women.
    3. These data imply a multisystem role for ADAMTSL1 and present the first disease-associated variant affecting a C-mannosylation motif.
      Title: Identification and functional analysis of an ADAMTSL1 variant associated with a complex phenotype including congenital glaucoma, craniofacial, and other systemic features in a three-generation human pedigree.
    4. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    5. Observational study of gene-disease association. (HuGE Navigator)
      Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    6. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    7. thrombospondin type-1 repeats from punctin-1 carries C-mannosylation in close proximity to O-linked fucose
      Title: Post-translational modification of thrombospondin type-1 repeats in ADAMTS-like 1/punctin-1 by C-mannosylation of tryptophan.
    8. Observational study of gene-disease association, gene-gene interaction, and gene-environment interaction. (HuGE Navigator)
      Title: Association and interaction analyses of eight genes under asthma linkage peaks.
    9. Punctin, a novel ADAMTS-like molecule, ADAMTSL-1, in extracellular matrix
      Title: Punctin, a novel ADAMTS-like molecule, ADAMTSL-1, in extracellular matrix.
    10. data define a critical role for N-glycosylation and O-fucosylation in the biosynthesis of punctin-1
      Title: O-fucosylation of thrombospondin type 1 repeats in ADAMTS-like-1/punctin-1 regulates secretion: implications for the ADAMTS superfamily.
    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
    Drug-gene interactions and the search for missing heritability: a cross-sectional pharmacogenomics study of the QT interval.
    EBI GWAS Catalog
    Gene by stress genome-wide interaction analysis and path analysis identify EBF1 as a cardiovascular and metabolic risk gene.
    EBI GWAS Catalog
    Genes linked to energy metabolism and immunoregulatory mechanisms are associated with subcutaneous adipose tissue distribution in HIV-infected men.
    EBI GWAS Catalog
    Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    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

    • FLJ35283, FLJ41032, FLJ46891, MGC40193, MGC118803, MGC118805, DKFZp686L03130

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in extracellular matrix organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in endoplasmic reticulum lumen TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    ADAMTS-like protein 1
    Names
    ADAM-TS related protein 1
    punctin-1

    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_001040272.6 → NP_001035362.3  ADAMTS-like protein 1 isoform 4 precursor

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) encodes the longer isoform (4).
      Source sequence(s)
      AF251058, AI750970, AL158150, AL591423, BC100790, BU626040, BX640951, CX758410, DA549329, DA598045
      Consensus CDS
      CCDS47954.1
      UniProtKB/Swiss-Prot
      A6PVN1, A8K7E1, Q496M6, Q496M8, Q5T708, Q5VZT8, Q8N6G6, Q8NAI9, Q96RW4, Q9BXY3
      UniProtKB/TrEMBL
      A0A7P0T9B9
      Related
      ENSP00000369921.4, ENST00000380548.9
      Conserved Domains (7) summary
      smart00408
      Location:1300 → 1360
      IGc2; Immunoglobulin C-2 Type
      smart00209
      Location:36 → 82
      TSP1; Thrombospondin type 1 repeats
      smart00410
      Location:1286 → 1370
      IG_like; Immunoglobulin like
      pfam07679
      Location:1395 → 1486
      I-set; Immunoglobulin I-set domain
      pfam08686
      Location:1730 → 1759
      PLAC; PLAC (protease and lacunin) domain
      cl11960
      Location:1197 → 1257
      Ig; Immunoglobulin domain
      cl15278
      Location:735 → 788
      TSP_1; Thrombospondin type 1 domain

    2. NM_052866.5 → NP_443098.3  ADAMTS-like protein 1 isoform 2 precursor

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) has an alternate 3' exon, as compared to variant 4, resulting in immediate translation termination. Isoform 2 is truncated at the C-terminus, compared to isoform 4.
      Source sequence(s)
      AF251058, AY358327, CX758410, DA598045
      Consensus CDS
      CCDS6485.1
      UniProtKB/TrEMBL
      A8K3Q2
      Related
      ENSP00000327887.7, ENST00000327883.11
      Conserved Domains (2) summary
      smart00209
      Location:36 → 82
      TSP1; Thrombospondin type 1 repeats
      pfam05986
      Location:205 → 279
      ADAM_spacer1; ADAM-TS Spacer 1

    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_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      17906633..18910950
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011518064.4 → XP_011516366.1  ADAMTS-like protein 1 isoform X3

      UniProtKB/TrEMBL
      A0A7P0T9B9
      Related
      ENSP00000505591.1, ENST00000680146.1
      Conserved Domains (7) summary
      smart00408
      Location:1351 → 1411
      IGc2; Immunoglobulin C-2 Type
      smart00209
      Location:87 → 133
      TSP1; Thrombospondin type 1 repeats
      smart00410
      Location:1337 → 1421
      IG_like; Immunoglobulin like
      pfam07679
      Location:1446 → 1537
      I-set; Immunoglobulin I-set domain
      pfam08686
      Location:1781 → 1810
      PLAC; PLAC (protease and lacunin) domain
      cl11960
      Location:1248 → 1308
      Ig; Immunoglobulin domain
      cl15278
      Location:786 → 839
      TSP_1; Thrombospondin type 1 domain

    2. XM_017015312.3 → XP_016870801.1  ADAMTS-like protein 1 isoform X5

      UniProtKB/TrEMBL
      A0A7P0T9B9

    3. XM_011518063.3 → XP_011516365.1  ADAMTS-like protein 1 isoform X1

      UniProtKB/TrEMBL
      A0A7P0T9B9
      Conserved Domains (7) summary
      smart00408
      Location:1366 → 1426
      IGc2; Immunoglobulin C-2 Type
      smart00209
      Location:102 → 148
      TSP1; Thrombospondin type 1 repeats
      smart00410
      Location:1352 → 1436
      IG_like; Immunoglobulin like
      pfam07679
      Location:1461 → 1552
      I-set; Immunoglobulin I-set domain
      pfam00090
      Location:801 → 854
      TSP_1; Thrombospondin type 1 domain
      pfam08686
      Location:1796 → 1825
      PLAC; PLAC (protease and lacunin) domain
      cl11960
      Location:1263 → 1323
      Ig; Immunoglobulin domain

    4. XM_017015311.2 → XP_016870800.1  ADAMTS-like protein 1 isoform X4

      UniProtKB/TrEMBL
      A0A7P0T9B9

    5. XM_017015314.2 → XP_016870803.1  ADAMTS-like protein 1 isoform X10

    6. XM_047424077.1 → XP_047280033.1  ADAMTS-like protein 1 isoform X11

    7. XM_047424072.1 → XP_047280028.1  ADAMTS-like protein 1 isoform X9

    8. XM_017015310.2 → XP_016870799.1  ADAMTS-like protein 1 isoform X2

      UniProtKB/TrEMBL
      A0A7P0T9B9

    9. XM_047424074.1 → XP_047280030.1  ADAMTS-like protein 1 isoform X7

    10. XM_047424076.1 → XP_047280032.1  ADAMTS-like protein 1 isoform X7

    11. XM_017015313.1 → XP_016870802.1  ADAMTS-like protein 1 isoform X7

      UniProtKB/TrEMBL
      A0A7P0T9B9
      Conserved Domains (7) summary
      smart00408
      Location:1150 → 1210
      IGc2; Immunoglobulin C-2 Type
      smart00209
      Location:1402 → 1457
      TSP1; Thrombospondin type 1 repeats
      smart00410
      Location:1136 → 1220
      IG_like; Immunoglobulin like
      pfam07679
      Location:1245 → 1336
      I-set; Immunoglobulin I-set domain
      pfam00090
      Location:585 → 638
      TSP_1; Thrombospondin type 1 domain
      pfam08686
      Location:1580 → 1609
      PLAC; PLAC (protease and lacunin) domain
      cl11960
      Location:1047 → 1107
      Ig; Immunoglobulin domain

    12. XM_047424073.1 → XP_047280029.1  ADAMTS-like protein 1 isoform X6

    13. XM_047424078.1 → XP_047280034.1  ADAMTS-like protein 1 isoform X12

    14. XM_047424079.1 → XP_047280035.1  ADAMTS-like protein 1 isoform X13

    15. XM_011518067.1 → XP_011516369.1  ADAMTS-like protein 1 isoform X8

      Related
      ENST00000380559.7
      Conserved Domains (7) summary
      smart00408
      Location:932 → 992
      IGc2; Immunoglobulin C-2 Type
      smart00209
      Location:1184 → 1239
      TSP1; Thrombospondin type 1 repeats
      smart00410
      Location:918 → 1002
      IG_like; Immunoglobulin like
      pfam07679
      Location:1027 → 1118
      I-set; Immunoglobulin I-set domain
      pfam08686
      Location:1362 → 1391
      PLAC; PLAC (protease and lacunin) domain
      cl11960
      Location:829 → 889
      Ig; Immunoglobulin domain
      cl15278
      Location:367 → 420
      TSP_1; Thrombospondin type 1 domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      17919720..18923930
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054364166.1 → XP_054220141.1  ADAMTS-like protein 1 isoform X3

    2. XM_054364168.1 → XP_054220143.1  ADAMTS-like protein 1 isoform X5

    3. XM_054364164.1 → XP_054220139.1  ADAMTS-like protein 1 isoform X1

    4. XM_054364167.1 → XP_054220142.1  ADAMTS-like protein 1 isoform X4

    5. XM_054364165.1 → XP_054220140.1  ADAMTS-like protein 1 isoform X2

    6. XM_054364170.1 → XP_054220145.1  ADAMTS-like protein 1 isoform X7

    7. XM_054364171.1 → XP_054220146.1  ADAMTS-like protein 1 isoform X7

    8. XM_054364172.1 → XP_054220147.1  ADAMTS-like protein 1 isoform X7

    9. XM_054364169.1 → XP_054220144.1  ADAMTS-like protein 1 isoform X6

    10. XM_054364173.1 → XP_054220148.1  ADAMTS-like protein 1 isoform X8

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_139238.1: Suppressed sequence

      Description
      NM_139238.1: This RefSeq was permanently suppressed because currently there is not sufficient data to support this transcript.

    2. NM_139264.1: Suppressed sequence

      Description
      NM_139264.1: This RefSeq was permanently suppressed because currently there is not sufficient data to support this transcript.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N6G6.4 GenPept UniProtKB/Swiss-Prot:Q8N6G6

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