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

Gene ID: 140766, updated on 26-Jul-2021

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
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
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Genomic context

See ADAMTS14 in Genome Data Viewer
Location:
10q22.1
Exon count:
25
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (70672506..70762441)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (72432262..72522197)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 11165 Neighboring gene CRISPRi-validated cis-regulatory element chr10.2252 Neighboring gene Sharpr-MPRA regulatory region 12298 Neighboring gene thymus, brain and testes associated Neighboring gene ribosomal protein S26 pseudogene 40

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

Associated conditions

Description Tests
A genome-wide association study of sleep habits and insomnia.
GeneReviews: Not available
Linkage and genome-wide association analysis of obesity-related phenotypes: association of weight with the MGAT1 gene.
GeneReviews: Not available
Propensity score-based nonparametric test revealing genetic variants underlying bipolar disorder.
GeneReviews: Not available

General gene information

Markers

Homology

Clone Names

  • FLJ32820

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 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
PubMed 
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 TAS
Traceable Author Statement
more info
 

General protein information

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

  1. NG_042147.1 RefSeqGene

    Range
    4704..94639
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_080722.4NP_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
    Q8WXS8
    Related
    ENSP00000362303.1, ENST00000373207.2
    Conserved Domains (5) summary
    smart00209
    Location:555607
    TSP1; Thrombospondin type 1 repeats
    cd04273
    Location:273457
    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:104206
    Pep_M12B_propep; Reprolysin family propeptide
    pfam05986
    Location:714829
    ADAM_spacer1; ADAM-TS Spacer 1
    pfam06679
    Location:11111185
    DUF1180; Protein of unknown function (DUF1180)
  2. NM_139155.3NP_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:558610
    TSP1; Thrombospondin type 1 repeats
    cd04273
    Location:273460
    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:104206
    Pep_M12B_propep; Reprolysin family propeptide
    pfam05986
    Location:717832
    ADAM_spacer1; ADAM-TS Spacer 1
    pfam06679
    Location:11141188
    DUF1180; Protein of unknown function (DUF1180)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

    Range
    70672506..70762441
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011539308.2XP_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:558610
    TSP1; Thrombospondin type 1 repeats
    cd04273
    Location:273460
    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:104206
    Pep_M12B_propep; Reprolysin family propeptide
    pfam05986
    Location:717757
    ADAM_spacer1; ADAM-TS Spacer 1
    cl15456
    Location:508543
    ADAM_CR; ADAM cysteine-rich
  2. XM_011539306.2XP_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:558610
    TSP1; Thrombospondin type 1 repeats
    cd04273
    Location:273460
    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:104206
    Pep_M12B_propep; Reprolysin family propeptide
    pfam05986
    Location:717757
    ADAM_spacer1; ADAM-TS Spacer 1
    cl15456
    Location:508543
    ADAM_CR; ADAM cysteine-rich
  3. XM_011539303.2XP_011537605.1  A disintegrin and metalloproteinase with thrombospondin motifs 14 isoform X3

    Conserved Domains (5) summary
    smart00209
    Location:558610
    TSP1; Thrombospondin type 1 repeats
    cd04273
    Location:273460
    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:104206
    Pep_M12B_propep; Reprolysin family propeptide
    pfam05986
    Location:717812
    ADAM_spacer1; ADAM-TS Spacer 1
    cl15456
    Location:508543
    ADAM_CR; ADAM cysteine-rich
  4. XM_011539307.2XP_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:558610
    TSP1; Thrombospondin type 1 repeats
    cd04273
    Location:273460
    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:104206
    Pep_M12B_propep; Reprolysin family propeptide
    pfam05986
    Location:717757
    ADAM_spacer1; ADAM-TS Spacer 1
    cl15456
    Location:508543
    ADAM_CR; ADAM cysteine-rich
  5. XM_011539300.2XP_011537602.1  A disintegrin and metalloproteinase with thrombospondin motifs 14 isoform X1

    Conserved Domains (6) summary
    smart00209
    Location:558610
    TSP1; Thrombospondin type 1 repeats
    cd04273
    Location:273460
    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:104206
    Pep_M12B_propep; Reprolysin family propeptide
    pfam05986
    Location:717812
    ADAM_spacer1; ADAM-TS Spacer 1
    pfam06679
    Location:9441018
    DUF1180; Protein of unknown function (DUF1180)
    cl15456
    Location:508543
    ADAM_CR; ADAM cysteine-rich
  6. XM_011539302.2XP_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:246298
    TSP1; Thrombospondin type 1 repeats
    pfam00090
    Location:666712
    TSP_1; Thrombospondin type 1 domain
    pfam05986
    Location:405520
    ADAM_spacer1; ADAM-TS Spacer 1
    pfam06679
    Location:802876
    DUF1180; Protein of unknown function (DUF1180)
    cl00064
    Location:1148
    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_011539301.2XP_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:246298
    TSP1; Thrombospondin type 1 repeats
    pfam00090
    Location:666712
    TSP_1; Thrombospondin type 1 domain
    pfam05986
    Location:405520
    ADAM_spacer1; ADAM-TS Spacer 1
    pfam06679
    Location:802876
    DUF1180; Protein of unknown function (DUF1180)
    cl00064
    Location:1148
    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_011539309.1XP_011537611.1  A disintegrin and metalloproteinase with thrombospondin motifs 14 isoform X5

    Conserved Domains (4) summary
    smart00209
    Location:78130
    TSP1; Thrombospondin type 1 repeats
    pfam00090
    Location:498544
    TSP_1; Thrombospondin type 1 domain
    pfam05986
    Location:237352
    ADAM_spacer1; ADAM-TS Spacer 1
    pfam06679
    Location:634708
    DUF1180; Protein of unknown function (DUF1180)

RNA

  1. XR_001747025.1 RNA Sequence

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