ADAMTS1 ADAM metallopeptidase with thrombospondin type 1 motif 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ADAMTS1provided by HGNC
Official Full Name: ADAM metallopeptidase with thrombospondin type 1 motif 1provided by HGNC
Primary source: HGNC:HGNC:217
See related: Ensembl:ENSG00000154734 MIM:605174; AllianceGenome:HGNC:217
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: C3-C5; METH1
Summary: This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) 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 protein encoded by this gene contains two disintegrin loops and three C-terminal TS motifs and has anti-angiogenic activity. The expression of this gene may be associated with various inflammatory processes as well as development of cancer cachexia. This gene is likely to be necessary for normal growth, fertility, and organ morphology and function. [provided by RefSeq, Jul 2008]
Expression: Broad expression in ovary (RPKM 126.2), placenta (RPKM 77.2) and 17 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 21q21.3

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	21	NC_000021.9 (26835755..26845409, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	21	NC_060945.1 (25193845..25203500, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	21	NC_000021.8 (28208074..28217728, complement)

Chromosome 21 - NC_000021.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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?

The oncogenic ADAMTS1-VCAN-EGFR cyclic axis drives anoikis resistance and invasion in renal cell carcinoma.
Title: The oncogenic ADAMTS1-VCAN-EGFR cyclic axis drives anoikis resistance and invasion in renal cell carcinoma.
Cyclic increase in the ADAMTS1-L1CAM-EGFR axis promotes the EMT and cervical lymph node metastasis of oral squamous cell carcinoma.
Title: Cyclic increase in the ADAMTS1-L1CAM-EGFR axis promotes the EMT and cervical lymph node metastasis of oral squamous cell carcinoma.
ADAMTS-1 has nuclear localization in cells with epithelial origin and leads to decreased cell migration.
Title: ADAMTS-1 has nuclear localization in cells with epithelial origin and leads to decreased cell migration.
Missense Mutation in Human CHD4 Causes Ventricular Noncompaction by Repressing ADAMTS1.
Title: Missense Mutation in Human CHD4 Causes Ventricular Noncompaction by Repressing ADAMTS1.
Differential gene expression of ADAMTS-1, ADAMTS-9 and TIMP-3 in periodontitis.
Title: Differential gene expression of ADAMTS-1, ADAMTS-9 and TIMP-3 in periodontitis.
ADAMTS1 as potential prognostic biomarker promotes malignant invasion of glioma.
Title: ADAMTS1 as potential prognostic biomarker promotes malignant invasion of glioma.
The role of serum ADAMTS-1 levels in Hyperemesis Gravidarum.
Title: The role of serum ADAMTS-1 levels in Hyperemesis Gravidarum.
ADAMTS1, MPDZ, MVD, and SEZ6: candidate genes for autosomal recessive nonsyndromic hearing impairment.
Title: ADAMTS1, MPDZ, MVD, and SEZ6: candidate genes for autosomal recessive nonsyndromic hearing impairment.
Metalloprotease ADAMTS-1 decreases cell migration and invasion modulating the spatiotemporal dynamics of Cdc42 activity.
Title: Metalloprotease ADAMTS-1 decreases cell migration and invasion modulating the spatiotemporal dynamics of Cdc42 activity.
Melatonin-triggered post-transcriptional and post-translational modifications of ADAMTS1 coordinately retard tumorigenesis and metastasis of renal cell carcinoma.
Title: Melatonin-triggered post-transcriptional and post-translational modifications of ADAMTS1 coordinately retard tumorigenesis and metastasis of renal cell carcinoma.

Submit: New GeneRIF Correction See all GeneRIFs (94)

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

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

D21S1964 (e-PCR)
- UniSTS:63269

A005R14 (e-PCR)
- UniSTS:61779

D21S2033 (e-PCR)
- UniSTS:61020

SHGC-51859 (e-PCR)
- UniSTS:61021

STS-R76276 (e-PCR)
- UniSTS:32124

G32278 (e-PCR)
- UniSTS:116876

MARC_10651-10652:1000474642:1 (e-PCR)
- UniSTS:267184

ADAMTS1_209 (e-PCR)
- UniSTS:276969

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables heparin binding	IEA Inferred from Electronic Annotation more info
enables metalloendopeptidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables metalloendopeptidase activity	IDA Inferred from Direct Assay more info	PubMed
enables metallopeptidase activity	TAS Traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables zinc ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in extracellular matrix organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in heart trabecula formation	IEA Inferred from Electronic Annotation more info
involved_in integrin-mediated signaling pathway	TAS Traceable Author Statement more info	PubMed
involved_in kidney development	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within negative regulation of angiogenesis	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of cell population proliferation	TAS Traceable Author Statement more info	PubMed
involved_in ovulation from ovarian follicle	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of G1/S transition of mitotic cell cycle	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of vascular associated smooth muscle cell migration	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of vascular associated smooth muscle cell proliferation	IGI Inferred from Genetic Interaction more info	PubMed
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 basement membrane	IEA Inferred from Electronic Annotation more info
colocalizes_with collagen-containing extracellular matrix	HDA more info	PubMed
located_in cytoplasmic vesicle	IEA Inferred from Electronic Annotation more info
is_active_in extracellular matrix	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular region	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: A disintegrin and metalloproteinase with thrombospondin motifs 1

Names: ADAM-TS 1; ADAM-TS1; ADAMTS-1; METH-1; a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 1; human metalloproteinase with thrombospondin type 1 motifs; metalloprotease and thrombospondin-1

NP_008919.3

EC 3.4.24.-

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_006988.5 → NP_008919.3 A disintegrin and metalloproteinase with thrombospondin motifs 1 preproprotein

See identical proteins and their annotated locations for NP_008919.3

Status: REVIEWED

Source sequence(s)

AF207664, AK314475, AP001599

Consensus CDS

CCDS33524.1

UniProtKB/Swiss-Prot

D3DSD5, Q9NSJ8, Q9P2K0, Q9UH83, Q9UHI8, Q9UP80

UniProtKB/TrEMBL

Q5HYL0, Q8NE26

Related

ENSP00000284984.2, ENST00000284984.8

Conserved Domains (6) summary

smart00209
Location:562 → 614

TSP1; Thrombospondin type 1 repeats

cd04273
Location:258 → 463

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:258 → 467

Reprolysin; Reprolysin (M12B) family zinc metalloprotease

pfam01562
Location:66 → 166

Pep_M12B_propep; Reprolysin family propeptide

pfam05986
Location:725 → 842

ADAM_spacer1; ADAM-TS Spacer 1

cl15456
Location:468 → 548

ADAM_CR; ADAM cysteine-rich