ADAMTS15 ADAM metallopeptidase with thrombospondin type 1 motif 15 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ADAMTS15provided by HGNC
Official Full Name: ADAM metallopeptidase with thrombospondin type 1 motif 15provided by HGNC
Primary source: HGNC:HGNC:16305
See related: Ensembl:ENSG00000166106 MIM:607509; AllianceGenome:HGNC:16305
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: DA12
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 enzyme, which may play a role in versican processing during skeletal muscle development. This gene may function as a tumor suppressor in colorectal and breast cancers. [provided by RefSeq, May 2016]
Expression: Biased expression in fat (RPKM 10.9), placenta (RPKM 8.5) and 13 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11q24.3

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (130448645..130476645)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (130484367..130513939)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (130318540..130346540)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposis.
Title: Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposis.
ADAMTS-15 Has a Tumor Suppressor Role in Prostate Cancer.
Title: ADAMTS-15 Has a Tumor Suppressor Role in Prostate Cancer.
ADAMTS4 and ADAMTS15 were upregulated in symptomatic uterine leiomyomas.
Title: Versican Proteolysis by ADAMTS Proteases and Its Influence on Sex Steroid Receptor Expression in Uterine Leiomyoma.
ADAMTS15 expression is significantly upregulated in human masticatory mucosa during wound healing
Title: Human gingiva transcriptome during wound healing.
ADAMTS15 is a candidate gene for intracranial aneurysms
Title: Genetic study of intracranial aneurysms.
ADAMTS-15 has multiple actions on tumor pathophysiology including modulation of cell-extracellular matrix interactions, which likely involve syndecan-4.
Title: Metalloproteinase-dependent and -independent processes contribute to inhibition of breast cancer cell migration, angiogenesis and liver metastasis by a disintegrin and metalloproteinase with thrombospondin motifs-15.
Versican processing by ADAMTS5 and ADAMTS15 contribute to muscle fiber formation.
Title: Versican processing by a disintegrin-like and metalloproteinase domain with thrombospondin-1 repeats proteinases-5 and -15 facilitates myoblast fusion.
ADAMTS-15 but not ADAMTS-1 expression was downregulated by androgen in LNCaP prostate cancer cells, possibly through androgen response elements associated with the gene
Title: Androgen regulates ADAMTS15 gene expression in prostate cancer cells.
ADAMTS15 may be target of inactivating mutations in human cancer.
Title: Genetic inactivation of ADAMTS15 metalloprotease in human colorectal cancer.
ADAMTS8 and ADAMTS15 have emerged as novel predictors of survival in patients with breast carcinoma
Title: ADAMTS8 and ADAMTS15 expression predicts survival in human breast carcinoma.

Submit: New GeneRIF Correction See all GeneRIFs (11)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Arthrogryposis, distal, type 12 MedGen: CN375615 OMIM: 620545 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
Genome-wide association study of chronic periodontitis in a general German population. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-145973 (e-PCR)
- UniSTS:172548

D11S3451 (e-PCR)
- UniSTS:152692

D11S3457 (e-PCR)
- UniSTS:152698

RH81015 (e-PCR)
- UniSTS:92052

D11S2776 (e-PCR)
- UniSTS:151976

RH47034 (e-PCR)
- UniSTS:1200

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables endopeptidase activity	ISS Inferred from Sequence or Structural Similarity more info
enables extracellular matrix binding	IEA Inferred from Electronic Annotation more info
enables heparin binding	IEA Inferred from Electronic Annotation more info
enables metalloendopeptidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables zinc ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in extracellular matrix disassembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in extracellular matrix organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in myoblast fusion	ISS Inferred from Sequence or Structural Similarity more info
involved_in proteolysis	IBA Inferred from Biological aspect of Ancestor more info
involved_in proteolysis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cell surface	IEA Inferred from Electronic Annotation more info
located_in collagen-containing extracellular matrix	IEA Inferred from Electronic Annotation more info
is_active_in extracellular matrix	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular space	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: A disintegrin and metalloproteinase with thrombospondin motifs 15

Names: a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 15, preproprotein; metalloprotease disintegrin 15 with thrombospondin domains

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)

NM_139055.4 → NP_620686.1 A disintegrin and metalloproteinase with thrombospondin motifs 15 preproprotein

See identical proteins and their annotated locations for NP_620686.1

Status: REVIEWED

Source sequence(s)

AP002986, AP003459

Consensus CDS

CCDS8488.1

UniProtKB/Swiss-Prot

Q32MI6, Q8TE58

Related

ENSP00000299164.2, ENST00000299164.4

Conserved Domains (5) summary

smart00209
Location:519 → 571

TSP1; Thrombospondin type 1 repeats

cd04273
Location:218 → 424

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 ...

pfam01562
Location:24 → 142

Pep_M12B_propep; Reprolysin family propeptide

pfam05986
Location:683 → 801

ADAM_spacer1; ADAM-TS Spacer 1

cl15456
Location:437 → 506

ADAM_CR; ADAM cysteine-rich

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000011.10 Reference GRCh38.p14 Primary Assembly

Range

130448645..130476645

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005271419.5 → XP_005271476.1 A disintegrin and metalloproteinase with thrombospondin motifs 15 isoform X1

Conserved Domains (4) summary

smart00209
Location:188 → 240

TSP1; Thrombospondin type 1 repeats

pfam05986
Location:352 → 470

ADAM_spacer1; ADAM-TS Spacer 1

cl00064
Location:1 → 93

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 ...

cl15456
Location:106 → 175

ADAM_CR; ADAM cysteine-rich