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    ADAMTSL1 ADAMTS like 1 [ Homo sapiens (human) ]

    Gene ID: 92949, updated on 10-Dec-2024

    Summary

    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
    NEW
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    Genomic context

    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (14 hits/1265 screens)

    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

    Interactions

    General gene information

    Clone Names

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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables hydrolase activity  
    Component Evidence Code Pubs
    located_in endoplasmic reticulum lumen  
    located_in extracellular region  

    General protein information

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_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

      UniProtKB/TrEMBL
      A0A7P0T9B9
    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

      UniProtKB/TrEMBL
      A0A7P0T9B9
    10. XM_047424076.1 → XP_047280032.1  ADAMTS-like protein 1 isoform X7

      UniProtKB/TrEMBL
      A0A7P0T9B9
    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

      UniProtKB/TrEMBL
      A0A7P0T9B9
    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

      UniProtKB/TrEMBL
      A0A7P0T9B9
    2. XM_054364168.1 → XP_054220143.1  ADAMTS-like protein 1 isoform X5

      UniProtKB/TrEMBL
      A0A7P0T9B9
    3. XM_054364164.1 → XP_054220139.1  ADAMTS-like protein 1 isoform X1

      UniProtKB/TrEMBL
      A0A7P0T9B9
    4. XM_054364167.1 → XP_054220142.1  ADAMTS-like protein 1 isoform X4

      UniProtKB/TrEMBL
      A0A7P0T9B9
    5. XM_054364165.1 → XP_054220140.1  ADAMTS-like protein 1 isoform X2

      UniProtKB/TrEMBL
      A0A7P0T9B9
    6. XM_054364170.1 → XP_054220145.1  ADAMTS-like protein 1 isoform X7

      UniProtKB/TrEMBL
      A0A7P0T9B9
    7. XM_054364171.1 → XP_054220146.1  ADAMTS-like protein 1 isoform X7

      UniProtKB/TrEMBL
      A0A7P0T9B9
    8. XM_054364172.1 → XP_054220147.1  ADAMTS-like protein 1 isoform X7

      UniProtKB/TrEMBL
      A0A7P0T9B9
    9. XM_054364169.1 → XP_054220144.1  ADAMTS-like protein 1 isoform X6

      UniProtKB/TrEMBL
      A0A7P0T9B9
    10. XM_054364173.1 → XP_054220148.1  ADAMTS-like protein 1 isoform X8

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