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

Gene ID: 170692, updated on 22-Aug-2020

Summary

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 MIM:607512
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]
Expression
Biased expression in placenta (RPKM 9.8), endometrium (RPKM 0.6) and 1 other tissue See more
Orthologs

Genomic context

See ADAMTS18 in Genome Data Viewer
Location:
16q23.1
Exon count:
23
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (77282128..77435034, 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 long intergenic non-protein coding RNA 2131

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

Associated conditions

Description Tests
A genome-wide search for genetic influences and biological pathways related to the brain's white matter integrity.
GeneReviews: Not available
Genome-wide association and follow-up replication studies identified ADAMTS18 and TGFBR3 as bone mass candidate genes in different ethnic groups.
GeneReviews: Not available
Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.
GeneReviews: Not available
Microcornea, myopic chorioretinal atrophy, and telecanthus
MedGen: C3809567 OMIM: 615458 GeneReviews: Not available
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Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
metalloendopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
extracellular matrix organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
extracellular matrix IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

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

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.

Genomic

  1. NG_031879.2 RefSeqGene

    Range
    5081..157987
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001326358.2NP_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
    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:10161046
    PLAC; PLAC (protease and lacunin) domain
  2. NM_199355.4NP_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
    ENSP00000282849.5, ENST00000282849.10
    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:86202
    Pep_M12B_propep; Reprolysin family propeptide
    pfam05986
    Location:749861
    ADAM_spacer1; ADAM-TS Spacer 1
    pfam08686
    Location:11881218
    PLAC; PLAC (protease and lacunin) domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

    Range
    77282128..77435034 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011522923.1XP_011521225.1  A disintegrin and metalloproteinase with thrombospondin motifs 18 isoform X1

    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:10161046
    PLAC; PLAC (protease and lacunin) domain
  2. XM_017022988.2XP_016878477.1  A disintegrin and metalloproteinase with thrombospondin motifs 18 isoform X3

  3. XM_011522924.2XP_011521226.1  A disintegrin and metalloproteinase with thrombospondin motifs 18 isoform X2

    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:945975
    PLAC; PLAC (protease and lacunin) domain
  4. XM_017022989.1XP_016878478.1  A disintegrin and metalloproteinase with thrombospondin motifs 18 isoform X3

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.
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