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ADAMTS4 (ADAM metallopeptidase with thrombospondin type 1 motif 4)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9507
Gene nameGene Name - the full gene name approved by the HGNC.
ADAM metallopeptidase with thrombospondin type 1 motif 4
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
ADAMTS4
SynonymsGene synonyms aliases
ADAMTS-2, ADAMTS-4, ADMP-1
ChromosomeChromosome number
1
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q23.3
SummarySummary of gene provided in NCBI Entrez Gene.
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 disintegr
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT019411 hsa-miR-148b-3p Microarray 17612493
MIRT022022 hsa-miR-128-3p Microarray 17612493
MIRT504253 hsa-miR-5011-5p HITS-CLIP 21572407
MIRT504252 hsa-miR-190a-3p HITS-CLIP 21572407
MIRT504251 hsa-miR-3149 HITS-CLIP 21572407
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001501 Process Skeletal system development TAS 10356395
GO:0002020 Function Protease binding IPI 14744861
GO:0004222 Function Metalloendopeptidase activity IBA 21873635
GO:0005515 Function Protein binding IPI 18718938
GO:0005576 Component Extracellular region TAS
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID O75173
Protein name A disintegrin and metalloproteinase with thrombospondin motifs 4 (ADAM-TS 4) (ADAM-TS4) (ADAMTS-4) (EC 3.4.24.82) (ADMP-1) (Aggrecanase-1)
Protein function Cleaves aggrecan, a cartilage proteoglycan, at the '392-Glu-|-Ala-393' site and may be involved in its turnover (PubMed:10356395, PubMed:10827174). Also cleaves COMP (PubMed:39672391). May play an important role in the destruction of aggrecan in
PDB 2RJP , 3B2Z , 4WK7 , 4WKE , 4WKI
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01562 Pep_M12B_propep
54 181
Reprolysin family propeptide
Family
PF01421 Reprolysin
218 428
Reprolysin (M12B) family zinc metalloprotease
Domain
PF17771 ADAM_CR_2
439 507
ADAM cysteine-rich domain
Domain
PF00090 TSP_1
524 574
Thrombospondin type 1 domain
Domain
PF05986 ADAM_spacer1
686 803
ADAM-TS Spacer 1
Family
Sequence
MSQTGSHPGRGLAGRWLWGAQPCLLLPIVPLSWLVWLLLLLLASLLPSARLASPLPREEE
IVFPEKLNGSVLPGSGAPARLLCRLQAFGETLLLELEQDSGVQVEGLTVQYLGQAPELLG
GAEPGTYLTGTINGDPESVASLHWDGGALLGVLQYRGAELHLQPLEGGTPNSAGGPGAHI
L
RRKSPASGQGPMCNVKAPLGSPSPRPRRAKRFASLSRFVETLVVADDKMAAFHGAGLKR
YLLTVMAAAAKAFKHPSIRNPVSLVVTRLVILGSGEEGPQVGPSAAQTLRSFCAWQRGLN
TPEDSDPDHFDTAILFTRQDLCGVSTCDTLGMADVGTVCDPARSCAIVEDDGLQSAFTAA
HELGHVFNMLHDNSKPCISLNGPLSTSRHVMAPVMAHVDPEEPWSPCSARFITDFLDNGY
GHCLLDKP
EAPLHLPVTFPGKDYDADRQCQLTFGPDSRHCPQLPPPCAALWCSGHLNGHA
MCQTKHSPWADGTPCGPAQACMGGRCL
HMDQLQDFNIPQAGGWGPWGPWGDCSRTCGGGV
QFSSRDCTRPVPRNGGKYCEGRRTRFRSCNTEDC
PTGSALTFREEQCAAYNHRTDLFKSF
PGPMDWVPRYTGVAPQDQCKLTCQAQALGYYYVLEPRVVDGTPCSPDSSSVCVQGRCIHA
GCDRIIGSKKKFDKCMVCGGDGSGCSKQSGSFRKFRYGYNNVVTIPAGATHILVRQQGNP
GHRSIYLALKLPDGSYALNGEYTLMPSPTDVVLPGAVSLRYSGATAASETLSGHGPLAQP
LTLQVLVAGNPQDTRLRYSFFVP
RPTPSTPRPTPQDWLHRRAQILEILRRRPWAGRK
Sequence length 837
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
Reactome
    Degradation of the extracellular matrix
Defective B3GALTL causes Peters-plus syndrome (PpS)
O-glycosylation of TSR domain-containing proteins
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Alzheimer disease Alzheimer`s Disease rs63750215, rs28936379, rs63749851, rs63749884, rs28936380, rs63750048, rs63750579, rs63750264, rs63749964, rs63750671, rs281865161, rs63750066, rs63750399, rs63750734, rs63751039, rs63750973, rs63749810, rs63750643, rs193922916, rs63750306, rs63750590, rs63750526, rs63751235, rs661, rs63751037, rs63749885, rs63750231, rs63751229, rs63751272, rs63751223, rs63750391, rs63751163, rs281875357, rs63751141, rs63750082, rs121917807, rs63751399, rs63750265, rs63751144, rs63750886, rs63751068, rs121917808, rs63749891, rs63750083, rs63749824, rs63750577, rs267606983, rs63750218, rs63751287, rs63750900, rs145518263, rs63751475, rs63750450, rs63749805, rs63751278, rs63751106, rs63750004, rs63749806, rs63751024, rs63750248, rs63750779, rs63751139, rs63750219, rs63750298, rs63750687, rs63750851, rs1553268799, rs1561901881, rs1561905293, rs866101707, rs1566638673, rs63750009, rs1566656702, rs1566657804, rs1567885728, rs1568339995, rs1566630791, rs1555358260, rs63750964, rs1594998354, rs63751316 30617256
Asthma Asthma rs324981, rs121912630, rs150116809, rs4950928, rs708494, rs1581842283 27182965

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