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    ADAMTSL5 ADAMTS like 5 [ Homo sapiens (human) ]

    Gene ID: 339366, updated on 10-Nov-2018

    Summary

    Official Symbol
    ADAMTSL5provided by HGNC
    Official Full Name
    ADAMTS like 5provided by HGNC
    Primary source
    HGNC:HGNC:27912
    See related
    Ensembl:ENSG00000185761 Vega:OTTHUMG00000180093
    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
    THSD6
    Expression
    Broad expression in endometrium (RPKM 3.3), heart (RPKM 2.8) and 21 other tissues See more
    Orthologs

    Genomic context

    See ADAMTSL5 in Genome Data Viewer
    Location:
    19p13.3
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 19 NC_000019.10 (1505018..1513189, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (1505017..1513188, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene proprotein convertase subtilisin/kexin type 4 Neighboring gene receptor accessory protein 6 Neighboring gene uncharacterized LOC107985337 Neighboring gene polo like kinase 5

    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 Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Pathways from BioSystems

    • Defective B3GALTL causes Peters-plus syndrome (PpS), organism-specific biosystem (from REACTOME)
      Defective B3GALTL causes Peters-plus syndrome (PpS), organism-specific biosystemHuman beta-1,3-glucosyltransferase like protein (B3GALTL, HGNC Approved Gene Symbol: B3GLCT; MIM:610308; CAZy family GT31), localised on the ER membrane, glucosylates O-fucosylated proteins. The resu...
    • Disease, organism-specific biosystem (from REACTOME)
      Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
    • Diseases associated with O-glycosylation of proteins, organism-specific biosystem (from REACTOME)
      Diseases associated with O-glycosylation of proteins, organism-specific biosystemGlycosylation is the most abundant modification of proteins, variations of which occur in all living cells. Glycosylation can be further categorized into N-linked (where the oligosaccharide is conjug...
    • Diseases of glycosylation, organism-specific biosystem (from REACTOME)
      Diseases of glycosylation, organism-specific biosystemDiseases of glycosylation, usually referred to as congenital disorders of glycosylation (CDG), are rare inherited disorders ascribing defects of nucleotide-sugar biosynthesis and transport, glycosylt...
    • Metabolism of proteins, organism-specific biosystem (from REACTOME)
      Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
    • O-glycosylation of TSR domain-containing proteins, organism-specific biosystem (from REACTOME)
      O-glycosylation of TSR domain-containing proteins, organism-specific biosystemThe O-fucosylation of proteins containing thrombospondin type 1 repeat (TSR) domains is an important PTM, regulating many biological processes such as Notch signalling, inflammation, wound healing, a...
    • O-linked glycosylation, organism-specific biosystem (from REACTOME)
      O-linked glycosylation, organism-specific biosystemO-glycosylation is an important post-translational modification (PTM) required for correct functioning of many proteins (Van den Steen et al. 1998, Moremen et al. 2012). The O-glycosylation of protei...
    • Post-translational protein modification, organism-specific biosystem (from REACTOME)
      Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    heparin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    extracellular matrix IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular region IDA
    Inferred from Direct Assay
    more info
    PubMed 
    microfibril IDA
    Inferred from Direct Assay
    more info
    PubMed 
    colocalizes_with microfibril IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    ADAMTS-like protein 5
    Names
    ADAMTSL-5
    thrombospondin type-1 domain-containing protein 6
    thrombospondin, type I, domain containing 6

    NCBI Reference Sequences (RefSeq)

    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_001367197.1NP_001354126.1  ADAMTS-like protein 5 isoform 1 precursor

      Status: VALIDATED

      Source sequence(s)
      AC027307, AW167554, BX951496
    2. NM_213604.2NP_998769.2  ADAMTS-like protein 5 isoform 2 precursor

      Status: VALIDATED

      Source sequence(s)
      AK131571, BC040620, BC119796, DR979736
      Consensus CDS
      CCDS12071.1
      UniProtKB/Swiss-Prot
      Q6ZMM2
      UniProtKB/TrEMBL
      Q0VD77, X6R4H8
      Related
      ENSP00000327608.3, OTTHUMP00000263311, ENST00000330475.8, OTTHUMT00000449713
      Conserved Domains (4) summary
      smart00209
      Location:3887
      TSP1; Thrombospondin type 1 repeats
      cd03523
      Location:365466
      NTR_like; NTR_like domain; a beta barrel with an oligosaccharide/oligonucleotide-binding fold found in netrins, complement proteins, tissue inhibitors of metalloproteases (TIMP), and procollagen C-proteinase enhancers (PCOLCE), amongst others. In netrins, the ...
      pfam05986
      Location:196301
      ADAM_spacer1; ADAM-TS Spacer 1
      cl15456
      Location:96164
      ADAM_CR; ADAM cysteine-rich

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p12 Primary Assembly

      Range
      1505018..1513189 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005259549.3XP_005259606.1  ADAMTS-like protein 5 isoform X2

      UniProtKB/Swiss-Prot
      Q6ZMM2
      Conserved Domains (4) summary
      smart00209
      Location:4897
      TSP1; Thrombospondin type 1 repeats
      cd03523
      Location:375476
      NTR_like; NTR_like domain; a beta barrel with an oligosaccharide/oligonucleotide-binding fold found in netrins, complement proteins, tissue inhibitors of metalloproteases (TIMP), and procollagen C-proteinase enhancers (PCOLCE), amongst others. In netrins, the ...
      pfam05986
      Location:206311
      ADAM_spacer1; ADAM-TS Spacer 1
      cl15456
      Location:106174
      ADAM_CR; ADAM cysteine-rich
    2. XM_011527961.1XP_011526263.1  ADAMTS-like protein 5 isoform X1

      Conserved Domains (4) summary
      smart00209
      Location:4897
      TSP1; Thrombospondin type 1 repeats
      cd03523
      Location:379480
      NTR_like; NTR_like domain; a beta barrel with an oligosaccharide/oligonucleotide-binding fold found in netrins, complement proteins, tissue inhibitors of metalloproteases (TIMP), and procollagen C-proteinase enhancers (PCOLCE), amongst others. In netrins, the ...
      pfam05986
      Location:206315
      ADAM_spacer1; ADAM-TS Spacer 1
      cl15456
      Location:106174
      ADAM_CR; ADAM cysteine-rich
    3. XM_017026744.1XP_016882233.1  ADAMTS-like protein 5 isoform X3

    4. XM_011527963.1XP_011526265.1  ADAMTS-like protein 5 isoform X5

      See identical proteins and their annotated locations for XP_011526265.1

      UniProtKB/TrEMBL
      A4QPG6
      Conserved Domains (2) summary
      cd03523
      Location:134235
      NTR_like; NTR_like domain; a beta barrel with an oligosaccharide/oligonucleotide-binding fold found in netrins, complement proteins, tissue inhibitors of metalloproteases (TIMP), and procollagen C-proteinase enhancers (PCOLCE), amongst others. In netrins, the ...
      pfam05986
      Location:370
      ADAM_spacer1; ADAM-TS Spacer 1
    5. XM_017026745.1XP_016882234.1  ADAMTS-like protein 5 isoform X4

      UniProtKB/TrEMBL
      X6R4H8
      Conserved Domains (4) summary
      smart00209
      Location:3887
      TSP1; Thrombospondin type 1 repeats
      cd03523
      Location:365466
      NTR_like; NTR_like domain; a beta barrel with an oligosaccharide/oligonucleotide-binding fold found in netrins, complement proteins, tissue inhibitors of metalloproteases (TIMP), and procollagen C-proteinase enhancers (PCOLCE), amongst others. In netrins, the ...
      pfam05986
      Location:196301
      ADAM_spacer1; ADAM-TS Spacer 1
      cl15456
      Location:96164
      ADAM_CR; ADAM cysteine-rich
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