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ADAMTS18 ADAM metallopeptidase with thrombospondin type 1 motif 18 [ Homo sapiens (human) ]

Gene ID: 170692, updated on 17-May-2016
Official Symbol
ADAMTS18provided by HGNC
Official Full Name
ADAM metallopeptidase with thrombospondin type 1 motif 18provided by HGNC
Primary source
HGNC:HGNC:17110
See related
Ensembl:ENSG00000140873 HPRD:06333; MIM:607512; Vega:OTTHUMG00000137619
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
KNO2; MMCAT; ADAMTS21
Summary
This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature protein, which may regulate hemostatic balance and function as a tumor suppressor. Mutations in this gene may be associated with microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) and cone-rod dystrophy in human patients. [provided by RefSeq, May 2016]
Orthologs
Location:
16q23
Exon count:
23
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 16 NC_000016.10 (77282128..77435114, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (77316025..77469011, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene MON1 homolog B, secretory trafficking associated Neighboring gene synaptonemal complex central element protein 1 like Neighboring gene vomeronasal 2 receptor 10 pseudogene Neighboring gene uncharacterized LOC105376775 Neighboring gene uncharacterized LOC105371350

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Microcornea, myopic chorioretinal atrophy, and telecanthus
MedGen: C3809567 OMIM: 615458 GeneReviews: Not available
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NHGRI GWAS Catalog

Description
A genome-wide search for genetic influences and biological pathways related to the brain's white matter integrity.
NHGRI GWA Catalog
Genome-wide association and follow-up replication studies identified ADAMTS18 and TGFBR3 as bone mass candidate genes in different ethnic groups.
NHGRI GWA Catalog
Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.
NHGRI GWA Catalog
  • 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...
  • Degradation of the extracellular matrix, organism-specific biosystem (from REACTOME)
    Degradation of the extracellular matrix, organism-specific biosystemMatrix metalloproteinases (MMPs), previously referred to as matrixins because of their role in degradation of the extracellular matrix (ECM), are zinc and calcium dependent proteases belonging to the...
  • 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...
  • Extracellular matrix organization, organism-specific biosystem (from REACTOME)
    Extracellular matrix organization, organism-specific biosystemThe extracellular matrix is a component of all mammalian tissues, a network consisting largely of the fibrous proteins collagen, elastin and associated-microfibrils, fibronectin and laminins embedded...
  • 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...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
metalloendopeptidase activity IEA
Inferred from Electronic Annotation
more info
 
zinc ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
eye development IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of platelet aggregation IDA
Inferred from Direct Assay
more info
PubMed 
proteolysis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
proteinaceous extracellular matrix IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
A disintegrin and metalloproteinase with thrombospondin motifs 18
Names
a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18
a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 21
disintegrin and metalloprotease-like protein

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.

Genomic

  1. NG_031879.2 RefSeqGene

    Range
    5001..157987
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001326358.1NP_001313287.1  A disintegrin and metalloproteinase with thrombospondin motifs 18 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) encodes isoform 3. The encoded isoform (3) lacks a predicted signal peptide and a portion of the propeptide compared to isoform 1.
    Source sequence(s)
    AC009139, AC010548, AC025284, BM684970
  2. NM_199355.3NP_955387.1  A disintegrin and metalloproteinase with thrombospondin motifs 18 isoform 1 preproprotein

    See identical proteins and their annotated locations for NP_955387.1

    Status: REVIEWED

    Source sequence(s)
    AC009139, AC010548, AJ311903, AK131403, AY172951, BC063283, BM684970
    Consensus CDS
    CCDS10926.1
    UniProtKB/Swiss-Prot
    Q8TE60
    UniProtKB/TrEMBL
    Q2VYF7, Q6ZN25
    Related
    ENSP00000282849, OTTHUMP00000174960, ENST00000282849, OTTHUMT00000269037
    Conserved Domains (6) summary
    smart00209
    Location:592643
    TSP1; Thrombospondin type 1 repeats
    cd04273
    Location:293494
    ZnMc_ADAMTS_like; Zinc-dependent metalloprotease, ADAMTS_like subgroup. ADAMs (A Disintegrin And Metalloprotease) are glycoproteins, which play roles in cell signaling, cell fusion, and cell-cell interactions. This particular subfamily represents domain architectures that ...
    pfam01421
    Location:295498
    Reprolysin; Reprolysin (M12B) family zinc metalloprotease
    pfam01562
    Location:61203
    Pep_M12B_propep; Reprolysin family propeptide
    pfam05986
    Location:749861
    ADAM_spacer1; ADAM-TS Spacer 1
    pfam08686
    Location:11871219
    PLAC; PLAC (protease and lacunin) domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p2 Primary Assembly

    Range
    77282128..77435114 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011522923.1XP_011521225.1  

    Conserved Domains (5) summary
    smart00209
    Location:420471
    TSP1; Thrombospondin type 1 repeats
    cd04273
    Location:121322
    ZnMc_ADAMTS_like; Zinc-dependent metalloprotease, ADAMTS_like subgroup. ADAMs (A Disintegrin And Metalloprotease) are glycoproteins, which play roles in cell signaling, cell fusion, and cell-cell interactions. This particular subfamily represents domain architectures that ...
    pfam01421
    Location:123326
    Reprolysin; Reprolysin (M12B) family zinc metalloprotease
    pfam05986
    Location:577689
    ADAM_spacer1; ADAM-TS Spacer 1
    pfam08686
    Location:10151047
    PLAC; PLAC (protease and lacunin) domain
  2. XM_011522924.1XP_011521226.1  

    Conserved Domains (5) summary
    smart00209
    Location:420471
    TSP1; Thrombospondin type 1 repeats
    cd04273
    Location:121322
    ZnMc_ADAMTS_like; Zinc-dependent metalloprotease, ADAMTS_like subgroup. ADAMs (A Disintegrin And Metalloprotease) are glycoproteins, which play roles in cell signaling, cell fusion, and cell-cell interactions. This particular subfamily represents domain architectures that ...
    pfam01421
    Location:123326
    Reprolysin; Reprolysin (M12B) family zinc metalloprotease
    pfam05986
    Location:577689
    ADAM_spacer1; ADAM-TS Spacer 1
    pfam08686
    Location:944976
    PLAC; PLAC (protease and lacunin) domain
  3. XM_006721158.2XP_006721221.1  

    Conserved Domains (3) summary
    smart00209
    Location:299353
    TSP1; Thrombospondin type 1 repeats
    pfam05986
    Location:53165
    ADAM_spacer1; ADAM-TS Spacer 1
    pfam08686
    Location:491523
    PLAC; PLAC (protease and lacunin) domain

Alternate CHM1_1.1

Genomic

  1. NC_018927.2 Alternate CHM1_1.1

    Range
    78727567..78880505 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_139054.2: Suppressed sequence

    Description
    NM_139054.2: This RefSeq was temporarily suppressed because currently there is not sufficient data to support this transcript.