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ADAMTS6 ADAM metallopeptidase with thrombospondin type 1 motif 6 [ Homo sapiens (human) ]

Gene ID: 11174, updated on 10-Dec-2019

Summary

Official Symbol
ADAMTS6provided by HGNC
Official Full Name
ADAM metallopeptidase with thrombospondin type 1 motif 6provided by HGNC
Primary source
HGNC:HGNC:222
See related
Ensembl:ENSG00000049192 MIM:605008
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
ADAM-TS6; ADAMTS-6; ADAM-TS 6
Summary
This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family 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 enzyme. Expression of this gene may be regulated by the cytokine TNF-alpha. [provided by RefSeq, Mar 2016]
Expression
Broad expression in placenta (RPKM 1.3), gall bladder (RPKM 1.1) and 19 other tissues See more
Orthologs

Genomic context

See ADAMTS6 in Genome Data Viewer
Location:
5q12.3
Exon count:
33
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (65148736..65482663, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (64444563..64777704, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene CWC27 spliceosome associated cyclophilin Neighboring gene uncharacterized LOC107986419 Neighboring gene ribosomal protein L5 pseudogene Neighboring gene ribulose-5-phosphate-3-epimerase pseudogene 1 Neighboring gene ribosomal protein S2 pseudogene 23 Neighboring gene centromere protein K Neighboring gene peptidylprolyl isomerase domain and WD repeat containing 1

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

NHGRI GWAS Catalog

Description
A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.
NHGRI GWA Catalog
Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.
NHGRI GWA Catalog
Genome-wide association study identifies two susceptibility loci for osteosarcoma.
NHGRI GWA Catalog
Genome-wide association study of clinical dimensions of schizophrenia: polygenic effect on disorganized symptoms.
NHGRI GWA Catalog

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
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
metalloendopeptidase activity IEA
Inferred from Electronic Annotation
more info
 
metallopeptidase activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
aorta development IEA
Inferred from Electronic Annotation
more info
 
cardiac septum development IEA
Inferred from Electronic Annotation
more info
 
coronary vasculature development IEA
Inferred from Electronic Annotation
more info
 
proteolysis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
extracellular region IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
A disintegrin and metalloproteinase with thrombospondin motifs 6
Names
a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 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_197941.4NP_922932.2  A disintegrin and metalloproteinase with thrombospondin motifs 6 preproprotein

    See identical proteins and their annotated locations for NP_922932.2

    Status: REVIEWED

    Source sequence(s)
    AY692422, AY692423, AY692424, AY692426
    Consensus CDS
    CCDS3983.2
    UniProtKB/Swiss-Prot
    Q9UKP5
    UniProtKB/TrEMBL
    Q5IR90
    Related
    ENSP00000370443.3, ENST00000381055.8
    Conserved Domains (6) summary
    smart00209
    Location:561613
    TSP1; Thrombospondin type 1 repeats
    cd04273
    Location:250465
    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:250468
    Reprolysin; Reprolysin (M12B) family zinc metalloprotease
    pfam01562
    Location:69190
    Pep_M12B_propep; Reprolysin family propeptide
    pfam05986
    Location:719829
    ADAM_spacer1; ADAM-TS Spacer 1
    pfam08686
    Location:10831115
    PLAC; PLAC (protease and lacunin) domain

RNA

  1. NR_135689.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AB209685, AY692422, AY692423, AY692424
    Related
    ENST00000381052.8

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    65148736..65482663 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011543117.2XP_011541419.1  A disintegrin and metalloproteinase with thrombospondin motifs 6 isoform X4

    Conserved Domains (6) summary
    smart00209
    Location:410462
    TSP1; Thrombospondin type 1 repeats
    cd04273
    Location:99314
    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:99317
    Reprolysin; Reprolysin (M12B) family zinc metalloprotease
    pfam01562
    Location:439
    Pep_M12B_propep; Reprolysin family propeptide
    pfam05986
    Location:568678
    ADAM_spacer1; ADAM-TS Spacer 1
    pfam08686
    Location:932964
    PLAC; PLAC (protease and lacunin) domain
  2. XM_011543115.3XP_011541417.1  A disintegrin and metalloproteinase with thrombospondin motifs 6 isoform X2

    Conserved Domains (6) summary
    smart00209
    Location:852910
    TSP1; Thrombospondin type 1 repeats
    cd04273
    Location:250465
    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:250468
    Reprolysin; Reprolysin (M12B) family zinc metalloprotease
    pfam01562
    Location:69190
    Pep_M12B_propep; Reprolysin family propeptide
    pfam05986
    Location:669779
    ADAM_spacer1; ADAM-TS Spacer 1
    pfam08686
    Location:10331065
    PLAC; PLAC (protease and lacunin) domain
  3. XM_011543116.3XP_011541418.1  A disintegrin and metalloproteinase with thrombospondin motifs 6 isoform X3

    Conserved Domains (6) summary
    smart00209
    Location:806864
    TSP1; Thrombospondin type 1 repeats
    cd04273
    Location:250458
    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:250458
    Reprolysin; Reprolysin (M12B) family zinc metalloprotease
    pfam01562
    Location:69190
    Pep_M12B_propep; Reprolysin family propeptide
    pfam05986
    Location:623733
    ADAM_spacer1; ADAM-TS Spacer 1
    pfam08686
    Location:9871019
    PLAC; PLAC (protease and lacunin) domain
  4. XM_011543113.3XP_011541415.1  A disintegrin and metalloproteinase with thrombospondin motifs 6 isoform X1

    See identical proteins and their annotated locations for XP_011541415.1

    UniProtKB/Swiss-Prot
    Q9UKP5
    Conserved Domains (6) summary
    smart00209
    Location:561613
    TSP1; Thrombospondin type 1 repeats
    cd04273
    Location:250465
    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:250468
    Reprolysin; Reprolysin (M12B) family zinc metalloprotease
    pfam01562
    Location:69190
    Pep_M12B_propep; Reprolysin family propeptide
    pfam05986
    Location:719829
    ADAM_spacer1; ADAM-TS Spacer 1
    pfam08686
    Location:10831115
    PLAC; PLAC (protease and lacunin) domain
  5. XM_011543114.3XP_011541416.1  A disintegrin and metalloproteinase with thrombospondin motifs 6 isoform X1

    See identical proteins and their annotated locations for XP_011541416.1

    UniProtKB/Swiss-Prot
    Q9UKP5
    Conserved Domains (6) summary
    smart00209
    Location:561613
    TSP1; Thrombospondin type 1 repeats
    cd04273
    Location:250465
    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:250468
    Reprolysin; Reprolysin (M12B) family zinc metalloprotease
    pfam01562
    Location:69190
    Pep_M12B_propep; Reprolysin family propeptide
    pfam05986
    Location:719829
    ADAM_spacer1; ADAM-TS Spacer 1
    pfam08686
    Location:10831115
    PLAC; PLAC (protease and lacunin) domain
  6. XM_011543121.2XP_011541423.2  A disintegrin and metalloproteinase with thrombospondin motifs 6 isoform X7

  7. XM_011543123.2XP_011541425.1  A disintegrin and metalloproteinase with thrombospondin motifs 6 isoform X9

    Conserved Domains (4) summary
    smart00209
    Location:182234
    TSP1; Thrombospondin type 1 repeats
    pfam05986
    Location:340450
    ADAM_spacer1; ADAM-TS Spacer 1
    pfam08686
    Location:704736
    PLAC; PLAC (protease and lacunin) domain
    cl00064
    Location:186
    ZnMc; Zinc-dependent metalloprotease. This super-family of metalloproteases contains two major branches, the astacin-like proteases and the adamalysin/reprolysin-like proteases. Both branches have wide phylogenetic distribution, and contain sub-families, which ...
  8. XM_011543125.1XP_011541427.1  A disintegrin and metalloproteinase with thrombospondin motifs 6 isoform X11

    Conserved Domains (3) summary
    smart00209
    Location:417471
    TSP1; Thrombospondin type 1 repeats
    pfam05986
    Location:230340
    ADAM_spacer1; ADAM-TS Spacer 1
    pfam08686
    Location:594626
    PLAC; PLAC (protease and lacunin) domain
  9. XM_011543124.2XP_011541426.1  A disintegrin and metalloproteinase with thrombospondin motifs 6 isoform X10

    Conserved Domains (3) summary
    smart00209
    Location:117169
    TSP1; Thrombospondin type 1 repeats
    pfam05986
    Location:275385
    ADAM_spacer1; ADAM-TS Spacer 1
    pfam08686
    Location:639671
    PLAC; PLAC (protease and lacunin) domain
  10. XM_011543119.3XP_011541421.1  A disintegrin and metalloproteinase with thrombospondin motifs 6 isoform X5

    Conserved Domains (5) summary
    smart00209
    Location:561613
    TSP1; Thrombospondin type 1 repeats
    cd04273
    Location:250465
    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:250468
    Reprolysin; Reprolysin (M12B) family zinc metalloprotease
    pfam01562
    Location:69190
    Pep_M12B_propep; Reprolysin family propeptide
    pfam05986
    Location:719829
    ADAM_spacer1; ADAM-TS Spacer 1
  11. XM_011543120.3XP_011541422.1  A disintegrin and metalloproteinase with thrombospondin motifs 6 isoform X6

    Conserved Domains (5) summary
    smart00209
    Location:561613
    TSP1; Thrombospondin type 1 repeats
    cd04273
    Location:250465
    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:250468
    Reprolysin; Reprolysin (M12B) family zinc metalloprotease
    pfam01562
    Location:69190
    Pep_M12B_propep; Reprolysin family propeptide
    pfam05986
    Location:719829
    ADAM_spacer1; ADAM-TS Spacer 1
  12. XM_011543122.3XP_011541424.1  A disintegrin and metalloproteinase with thrombospondin motifs 6 isoform X8

    Conserved Domains (5) summary
    smart00209
    Location:561613
    TSP1; Thrombospondin type 1 repeats
    cd04273
    Location:250465
    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:250468
    Reprolysin; Reprolysin (M12B) family zinc metalloprotease
    pfam01562
    Location:69190
    Pep_M12B_propep; Reprolysin family propeptide
    pfam05986
    Location:719815
    ADAM_spacer1; ADAM-TS Spacer 1
  13. XM_011543127.3XP_011541429.1  A disintegrin and metalloproteinase with thrombospondin motifs 6 isoform X13

    Conserved Domains (4) summary
    smart00209
    Location:561611
    TSP1; Thrombospondin type 1 repeats
    cd04273
    Location:250465
    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:250468
    Reprolysin; Reprolysin (M12B) family zinc metalloprotease
    pfam01562
    Location:69190
    Pep_M12B_propep; Reprolysin family propeptide
  14. XM_011543126.3XP_011541428.1  A disintegrin and metalloproteinase with thrombospondin motifs 6 isoform X12

    Conserved Domains (4) summary
    smart00209
    Location:561610
    TSP1; Thrombospondin type 1 repeats
    cd04273
    Location:250465
    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:250468
    Reprolysin; Reprolysin (M12B) family zinc metalloprotease
    pfam01562
    Location:69190
    Pep_M12B_propep; Reprolysin family propeptide

RNA

  1. XR_948232.3 RNA Sequence

  2. XR_948233.3 RNA Sequence

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