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

Gene ID: 11174, updated on 5-Aug-2022

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; AllianceGenome:HGNC:222
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
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Genomic context

See ADAMTS6 in Genome Data Viewer
Location:
5q12.3
Exon count:
31
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (65148738..65481920, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (65968856..66303685, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (64444565..64777747, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 13369 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 uncharacterized LOC124900986 Neighboring gene centromere protein K

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

EBI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables metalloendopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables metallopeptidase activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
involved_in aorta development IEA
Inferred from Electronic Annotation
more info
 
involved_in cardiac septum development IEA
Inferred from Electronic Annotation
more info
 
involved_in coronary vasculature development IEA
Inferred from Electronic Annotation
more info
 
involved_in extracellular matrix organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in kidney development IEA
Inferred from Electronic Annotation
more info
 
involved_in proteolysis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
is_active_in extracellular matrix IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in 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)

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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
    Q68DL1, 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 Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    65148738..65481920 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011543117.3XP_011541419.1  A disintegrin and metalloproteinase with thrombospondin motifs 6 isoform X3

    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_011543113.4XP_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
    Q68DL1, 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
  3. XM_047416675.1XP_047272631.1  A disintegrin and metalloproteinase with thrombospondin motifs 6 isoform X2

  4. XM_011543114.4XP_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
    Q68DL1, 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_011543121.3XP_011541423.3  A disintegrin and metalloproteinase with thrombospondin motifs 6 isoform X5

  6. XM_011543123.3XP_011541425.1  A disintegrin and metalloproteinase with thrombospondin motifs 6 isoform X7

    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 ...
  7. XM_011543125.2XP_011541427.1  A disintegrin and metalloproteinase with thrombospondin motifs 6 isoform X9

    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
  8. XM_011543124.3XP_011541426.1  A disintegrin and metalloproteinase with thrombospondin motifs 6 isoform X8

    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
  9. XM_047416676.1XP_047272632.1  A disintegrin and metalloproteinase with thrombospondin motifs 6 isoform X4

  10. XM_047416677.1XP_047272633.1  A disintegrin and metalloproteinase with thrombospondin motifs 6 isoform X6

    Related
    ENST00000464680.6
  11. XM_047416678.1XP_047272634.1  A disintegrin and metalloproteinase with thrombospondin motifs 6 isoform X10

RNA

  1. XR_007058575.1 RNA Sequence

  2. XR_007058576.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    65968856..66303685 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_014273.2: Suppressed sequence

    Description
    NM_014273.2: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.