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ADAMTS4 ADAM metallopeptidase with thrombospondin type 1 motif 4 [ Homo sapiens (human) ]

Gene ID: 9507, updated on 3-Nov-2024

Summary

Official Symbol
ADAMTS4provided by HGNC
Official Full Name
ADAM metallopeptidase with thrombospondin type 1 motif 4provided by HGNC
Primary source
HGNC:HGNC:220
See related
Ensembl:ENSG00000158859 MIM:603876; AllianceGenome:HGNC:220
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
ADMP-1; ADAMTS-2; ADAMTS-4
Summary
This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of this 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 enzyme encoded by this gene lacks a C-terminal TS motif. The encoded preproprotein is proteolytically processed to generate the mature protease. This protease is responsible for the degradation of aggrecan, a major proteoglycan of cartilage, and brevican, a brain-specific extracellular matrix protein. The expression of this gene is upregulated in arthritic disease and this may contribute to disease progression through the degradation of aggrecan. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016]
Expression
Broad expression in gall bladder (RPKM 12.3), appendix (RPKM 11.7) and 19 other tissues See more
Orthologs
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Genomic context

See ADAMTS4 in Genome Data Viewer
Location:
1q23.3
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (161184302..161199054, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (160321737..160336495, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (161154092..161168844, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1470 Neighboring gene ubiquitin specific peptidase 21 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:161137271-161137934 Neighboring gene protoporphyrinogen oxidase Neighboring gene beta-1,4-galactosyltransferase 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1471 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:161146985-161147484 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:161148623-161149124 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1981 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1982 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1983 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:161162728-161163541 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1474 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1984 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:161166678-161167583 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:161170109-161170830 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1985 Neighboring gene NADH:ubiquinone oxidoreductase core subunit S2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:161187006-161187992 Neighboring gene Fc epsilon receptor Ig Neighboring gene apolipoprotein A2

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • KIAA0688

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables metalloendopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables metalloendopeptidase activity TAS
Traceable Author Statement
more info
 
enables metallopeptidase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables peptidase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables protease binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables zinc ion binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
involved_in extracellular matrix disassembly 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
 
involved_in skeletal system development TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
located_in collagen-containing extracellular matrix HDA PubMed 
is_active_in extracellular matrix IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in extracellular region TAS
Traceable Author Statement
more info
 
located_in extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
located_in nuclear speck IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
A disintegrin and metalloproteinase with thrombospondin motifs 4
Names
ADAM-TS 4
ADAM-TS4
a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 4
aggrecanase-1
epididymis secretory sperm binding protein
NP_001307265.1
NP_005090.3
XP_047290860.1
XP_054195683.1

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_001320336.3NP_001307265.1  A disintegrin and metalloproteinase with thrombospondin motifs 4 isoform 2 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2, also known as ADAMTS4_v1) uses an alternate splice site in the 3' coding region resulting in a frameshift compared to variant 1. The encoded isoform (2) has a longer and distinct C-terminus compared to isoform 1, but may undergo proteolytic processing similar to isoform 1.
    Source sequence(s)
    AA603151, AB014588, AF148213, AL590714, AY358886, BC063293, DA098917, DQ364570
    UniProtKB/TrEMBL
    A8K6A8
    Conserved Domains (5) summary
    smart00209
    Location:531575
    TSP1; Thrombospondin type 1 repeats
    cd04273
    Location:218425
    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:218428
    Reprolysin; Reprolysin (M12B) family zinc metalloprotease
    pfam01562
    Location:70181
    Pep_M12B_propep; Reprolysin family propeptide
    cl15456
    Location:438509
    ADAM_CR; ADAM cysteine-rich
  2. NM_005099.6NP_005090.3  A disintegrin and metalloproteinase with thrombospondin motifs 4 isoform 1 preproprotein

    See identical proteins and their annotated locations for NP_005090.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the shorter isoform (1).
    Source sequence(s)
    AA603151, AB014588, AF148213, AL590714, AY358886, BC063293, DA098917
    Consensus CDS
    CCDS1223.1
    UniProtKB/Swiss-Prot
    O75173, Q2HYD0, Q5VTW2, Q6P4Q8, Q6UWA8, Q9UN83
    UniProtKB/TrEMBL
    A8K6A8
    Related
    ENSP00000356975.4, ENST00000367996.6
    Conserved Domains (6) summary
    smart00209
    Location:531575
    TSP1; Thrombospondin type 1 repeats
    cd04273
    Location:218425
    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:218428
    Reprolysin; Reprolysin (M12B) family zinc metalloprotease
    pfam01562
    Location:70181
    Pep_M12B_propep; Reprolysin family propeptide
    pfam05986
    Location:687802
    ADAM_spacer1; ADAM-TS Spacer 1
    cl15456
    Location:438509
    ADAM_CR; ADAM cysteine-rich

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

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    161184302..161199054 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047434904.1XP_047290860.1  A disintegrin and metalloproteinase with thrombospondin motifs 4 isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    160321737..160336495 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054339708.1XP_054195683.1  A disintegrin and metalloproteinase with thrombospondin motifs 4 isoform X1