ADAMTS14 ADAM metallopeptidase with thrombospondin type 1 motif 14 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ADAMTS14provided by HGNC
Official Full Name: ADAM metallopeptidase with thrombospondin type 1 motif 14provided by HGNC
Primary source: HGNC:HGNC:14899
See related: Ensembl:ENSG00000138316 MIM:607506; AllianceGenome:HGNC:14899
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
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 encoded preproprotein is proteolytically processed to generate the mature enzyme. This enzyme cleaves amino-terminal propeptides from type I procollagen, a necessary step in the formation of collagen fibers. Mutations in this gene may be associated with osteoarthritis in human patients. [provided by RefSeq, May 2016]
Expression: Biased expression in gall bladder (RPKM 3.7), placenta (RPKM 3.6) and 13 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 10q22.1

Exon count:: 26

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (70672506..70762441)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (71542163..71632194)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (72432262..72522197)

Chromosome 10 - NC_000010.11 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
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?

Opposing roles for ADAMTS2 and ADAMTS14 in myofibroblast differentiation and function.
Title: Opposing roles for ADAMTS2 and ADAMTS14 in myofibroblast differentiation and function.
Association between ADAMTS14_rs4747096 gene polymorphism and bone mineral density of Chinese Han population residing in fluorine exposed areas in ShanXi Province, China.
Title: Association between ADAMTS14_rs4747096 gene polymorphism and bone mineral density of Chinese Han population residing in fluorine exposed areas in ShanXi Province, China.
Correlation investigation between a single nucleotide polymorphism in ADAMTS14 (rs4747096) and osteoarthritis: a meta-analysis.
Title: Correlation investigation between a single nucleotide polymorphism in ADAMTS14 (rs4747096) and osteoarthritis: a meta-analysis.
Large scale phenotype imputation and in vivo functional validation implicate ADAMTS14 as an adiposity gene.
Title: Large scale phenotype imputation and in vivo functional validation implicate ADAMTS14 as an adiposity gene.
Survival Prognosis, Tumor Immune Landscape, and Immune Responses of ADAMTS14 in Clear Cell Renal Cell Carcinoma and Its Potential Mechanisms.
Title: Survival Prognosis, Tumor Immune Landscape, and Immune Responses of ADAMTS14 in Clear Cell Renal Cell Carcinoma and Its Potential Mechanisms.
Identification of crucial noncoding RNAs and mRNAs in hypertrophic scars via RNA sequencing.
Title: Identification of crucial noncoding RNAs and mRNAs in hypertrophic scars via RNA sequencing.
The expression of ADAMTS14 is regulated by promoter DNA methylation and is associated with poor prognosis in colorectal cancer.
Title: The expression of ADAMTS14 is regulated by promoter DNA methylation and is associated with poor prognosis in colorectal cancer.
Lack of association between MMP13 (rs3819089), ADAM12 (rs3740199-rs1871054) and ADAMTS14 (rs4747096) genotypes and advanced-stage knee osteoarthritis.
Title: Lack of association between MMP13 (rs3819089), ADAM12 (rs3740199-rs1871054) and ADAMTS14 (rs4747096) genotypes and advanced-stage knee osteoarthritis.
Inflammasome components and ADAMTS4 in premature rupture of membranes.
Title: Inflammasome components and ADAMTS4 in premature rupture of membranes.
Our results demonstrated that circADAMTS14 might suppress hepatocellular carcinoma (HCC) progression through regulating miR-572/ RCAN1 as the competing endogenous RNA.
Title: The competing endogenous circular RNA ADAMTS14 suppressed hepatocellular carcinoma progression through regulating microRNA-572/regulator of calcineurin 1.

Submit: New GeneRIF Correction See all GeneRIFs (22)

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

EBI GWAS Catalog

Description
A genome-wide association study of sleep habits and insomnia. EBI GWAS Catalog EBI GWAS CatalogPubMed
Linkage and genome-wide association analysis of obesity-related phenotypes: association of weight with the MGAT1 gene. EBI GWAS Catalog EBI GWAS CatalogPubMed
Propensity score-based nonparametric test revealing genetic variants underlying bipolar disorder. 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

D10S1685 (e-PCR), detects polymorphism
- UniSTS:8266

ADAMTS14_2587 (e-PCR)
- UniSTS:280431

RH17783 (e-PCR)
- UniSTS:56992

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
enables metalloendopeptidase activity	TAS Traceable Author Statement more info

Process	Evidence Code	Pubs
involved_in collagen catabolic process	IEA Inferred from Electronic Annotation more info
involved_in collagen fibril organization	TAS Traceable Author Statement more info
involved_in extracellular matrix organization	IBA Inferred from Biological aspect of Ancestor 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
is_active_in extracellular matrix	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular region	TAS Traceable Author Statement more info

General protein information

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Preferred Names: A disintegrin and metalloproteinase with thrombospondin motifs 14

Names: a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14

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.

Genomic

NG_042147.1 RefSeqGene

Range

4704..94639

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_080722.4 → NP_542453.2 A disintegrin and metalloproteinase with thrombospondin motifs 14 isoform 2 preproprotein

See identical proteins and their annotated locations for NP_542453.2

Status: REVIEWED

Description

Transcript Variant: This variant (2) represents the shorter transcript and encodes the shorter isoform (2).

Source sequence(s)

AF358666, AF366351, AK128469, AL355344, AL358817, CN398634

Consensus CDS

CCDS7306.1

UniProtKB/Swiss-Prot

Q5T4G0, Q5T4G1, Q8TE55, Q8TEY8, Q8WXS8

Related

ENSP00000362303.1, ENST00000373207.2

Conserved Domains (5) summary

smart00209
Location:555 → 607

TSP1; Thrombospondin type 1 repeats

cd04273
Location:273 → 457

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:104 → 206

Pep_M12B_propep; Reprolysin family propeptide

pfam05986
Location:714 → 829

ADAM_spacer1; ADAM-TS Spacer 1

pfam06679
Location:1111 → 1185

DUF1180; Protein of unknown function (DUF1180)
NM_139155.3 → NP_631894.2 A disintegrin and metalloproteinase with thrombospondin motifs 14 isoform 1 precursor

See identical proteins and their annotated locations for NP_631894.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) uses an alternate in-frame splice site in the 5' coding region compared to variant 1. The encoded isoform (1) is longer than isoform 2, but may undergo proteolytic processing similar to isoform 2.

Source sequence(s)

AF366351, AK128469, AL355344, AL358817, CN398634

Consensus CDS

CCDS7307.1

UniProtKB/Swiss-Prot

Q8WXS8

Related

ENSP00000362304.1, ENST00000373208.5

Conserved Domains (5) summary

smart00209
Location:558 → 610

TSP1; Thrombospondin type 1 repeats

cd04273
Location:273 → 460

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:104 → 206

Pep_M12B_propep; Reprolysin family propeptide

pfam05986
Location:717 → 832

ADAM_spacer1; ADAM-TS Spacer 1

pfam06679
Location:1114 → 1188

DUF1180; Protein of unknown function (DUF1180)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000010.11 Reference GRCh38.p14 Primary Assembly

Range

70672506..70762441

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011539300.3 → XP_011537602.1 A disintegrin and metalloproteinase with thrombospondin motifs 14 isoform X1

Conserved Domains (6) summary

smart00209
Location:558 → 610

TSP1; Thrombospondin type 1 repeats

cd04273
Location:273 → 460

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:104 → 206

Pep_M12B_propep; Reprolysin family propeptide

pfam05986
Location:717 → 812

ADAM_spacer1; ADAM-TS Spacer 1

pfam06679
Location:944 → 1018

DUF1180; Protein of unknown function (DUF1180)

cl15456
Location:508 → 543

ADAM_CR; ADAM cysteine-rich
XM_011539308.3 → XP_011537610.1 A disintegrin and metalloproteinase with thrombospondin motifs 14 isoform X4

See identical proteins and their annotated locations for XP_011537610.1

Conserved Domains (5) summary

smart00209
Location:558 → 610

TSP1; Thrombospondin type 1 repeats

cd04273
Location:273 → 460

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:104 → 206

Pep_M12B_propep; Reprolysin family propeptide

pfam05986
Location:717 → 757

ADAM_spacer1; ADAM-TS Spacer 1

cl15456
Location:508 → 543

ADAM_CR; ADAM cysteine-rich
XM_011539306.3 → XP_011537608.1 A disintegrin and metalloproteinase with thrombospondin motifs 14 isoform X4

See identical proteins and their annotated locations for XP_011537608.1

Conserved Domains (5) summary

smart00209
Location:558 → 610

TSP1; Thrombospondin type 1 repeats

cd04273
Location:273 → 460

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:104 → 206

Pep_M12B_propep; Reprolysin family propeptide

pfam05986
Location:717 → 757

ADAM_spacer1; ADAM-TS Spacer 1

cl15456
Location:508 → 543

ADAM_CR; ADAM cysteine-rich
XM_011539303.3 → XP_011537605.1 A disintegrin and metalloproteinase with thrombospondin motifs 14 isoform X3

Conserved Domains (5) summary

smart00209
Location:558 → 610

TSP1; Thrombospondin type 1 repeats

cd04273
Location:273 → 460

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:104 → 206

Pep_M12B_propep; Reprolysin family propeptide

pfam05986
Location:717 → 812

ADAM_spacer1; ADAM-TS Spacer 1

cl15456
Location:508 → 543

ADAM_CR; ADAM cysteine-rich
XM_011539307.3 → XP_011537609.1 A disintegrin and metalloproteinase with thrombospondin motifs 14 isoform X4

See identical proteins and their annotated locations for XP_011537609.1

Conserved Domains (5) summary

smart00209
Location:558 → 610

TSP1; Thrombospondin type 1 repeats

cd04273
Location:273 → 460

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:104 → 206

Pep_M12B_propep; Reprolysin family propeptide

pfam05986
Location:717 → 757

ADAM_spacer1; ADAM-TS Spacer 1

cl15456
Location:508 → 543

ADAM_CR; ADAM cysteine-rich
XM_011539302.2 → XP_011537604.1 A disintegrin and metalloproteinase with thrombospondin motifs 14 isoform X2

See identical proteins and their annotated locations for XP_011537604.1

Conserved Domains (5) summary

smart00209
Location:246 → 298

TSP1; Thrombospondin type 1 repeats

pfam00090
Location:666 → 712

TSP_1; Thrombospondin type 1 domain

pfam05986
Location:405 → 520

ADAM_spacer1; ADAM-TS Spacer 1

pfam06679
Location:802 → 876

DUF1180; Protein of unknown function (DUF1180)

cl00064
Location:1 → 148

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 ...
XM_011539301.2 → XP_011537603.1 A disintegrin and metalloproteinase with thrombospondin motifs 14 isoform X2

See identical proteins and their annotated locations for XP_011537603.1

Conserved Domains (5) summary

smart00209
Location:246 → 298

TSP1; Thrombospondin type 1 repeats

pfam00090
Location:666 → 712

TSP_1; Thrombospondin type 1 domain

pfam05986
Location:405 → 520

ADAM_spacer1; ADAM-TS Spacer 1

pfam06679
Location:802 → 876

DUF1180; Protein of unknown function (DUF1180)

cl00064
Location:1 → 148

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 ...
XM_011539309.2 → XP_011537611.1 A disintegrin and metalloproteinase with thrombospondin motifs 14 isoform X5

Conserved Domains (4) summary

smart00209
Location:78 → 130

TSP1; Thrombospondin type 1 repeats

pfam00090
Location:498 → 544

TSP_1; Thrombospondin type 1 domain

pfam05986
Location:237 → 352

ADAM_spacer1; ADAM-TS Spacer 1

pfam06679
Location:634 → 708

DUF1180; Protein of unknown function (DUF1180)

RNA

XR_001747025.2 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

NC_060934.1 Alternate T2T-CHM13v2.0

Range

71542163..71632194

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054364860.1 → XP_054220835.1 A disintegrin and metalloproteinase with thrombospondin motifs 14 isoform X1
XM_054364866.1 → XP_054220841.1 A disintegrin and metalloproteinase with thrombospondin motifs 14 isoform X4
XM_054364865.1 → XP_054220840.1 A disintegrin and metalloproteinase with thrombospondin motifs 14 isoform X4
XM_054364863.1 → XP_054220838.1 A disintegrin and metalloproteinase with thrombospondin motifs 14 isoform X3
XM_054364864.1 → XP_054220839.1 A disintegrin and metalloproteinase with thrombospondin motifs 14 isoform X4
XM_054364862.1 → XP_054220837.1 A disintegrin and metalloproteinase with thrombospondin motifs 14 isoform X2
XM_054364861.1 → XP_054220836.1 A disintegrin and metalloproteinase with thrombospondin motifs 14 isoform X2
XM_054364867.1 → XP_054220842.1 A disintegrin and metalloproteinase with thrombospondin motifs 14 isoform X5