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ADAMTSL1 ADAMTS like 1 [ Homo sapiens (human) ]

Gene ID: 92949, updated on 7-Apr-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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Location:
9p22.2-p22.1
Exon count:
39
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (17906633..18910950)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (17919720..18923930)
105.20220307 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. 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
  5. 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

See all (29) 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)

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

  • 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

    See identical proteins and their annotated locations for NP_001035362.3

    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

    See identical proteins and their annotated locations for NP_443098.3

    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_2023_10

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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