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ADAMTS7 (ADAM metallopeptidase with thrombospondin type 1 motif 7)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
11173
Gene nameGene Name - the full gene name approved by the HGNC.
ADAM metallopeptidase with thrombospondin type 1 motif 7
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
ADAMTS7
SynonymsGene synonyms aliases
ADAM-TS 7, ADAM-TS7, ADAMTS-7
ChromosomeChromosome number
15
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
15q25.1
SummarySummary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene is a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) 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 encoded preproprotein is proteolytically processed to generate the mature enzyme. This enzyme contains two C-terminal TS motifs and may regulate vascular smooth muscle cell (VSMC) migration. Mutations in this gene may be associated with susceptibility to coronary artery disease. [provided by RefSeq, Feb 2016]
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0004222 Function Metalloendopeptidase activity IBA 21873635
GO:0004222 Function Metalloendopeptidase activity IDA 18485748
GO:0005515 Function Protein binding IPI 18485748
GO:0005788 Component Endoplasmic reticulum lumen TAS
GO:0008237 Function Metallopeptidase activity TAS 10464288
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID Q9UKP4
Protein name A disintegrin and metalloproteinase with thrombospondin motifs 7 (ADAM-TS 7) (ADAM-TS7) (ADAMTS-7) (EC 3.4.24.-) (COMPase)
Protein function Metalloprotease that may play a role in the degradation of COMP.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01562 Pep_M12B_propep
44 184
Reprolysin family propeptide
Family
PF01421 Reprolysin
242 452
Reprolysin (M12B) family zinc metalloprotease
Domain
PF17771 ADAM_CR_2
464 528
ADAM cysteine-rich domain
Domain
PF00090 TSP_1
542 592
Thrombospondin type 1 domain
Domain
PF05986 ADAM_spacer1
698 809
ADAM-TS Spacer 1
Family
PF19030 TSP1_ADAMTS
825 879
Domain
PF19030 TSP1_ADAMTS
883 942
Domain
PF19030 TSP1_ADAMTS
946 994
Domain
PF19030 TSP1_ADAMTS
1415 1463
Domain
PF19030 TSP1_ADAMTS
1466 1521
Domain
PF19030 TSP1_ADAMTS
1524 1570
Domain
PF19030 TSP1_ADAMTS
1573 1628
Domain
Sequence
MPGGPSPRSPAPLLRPLLLLLCALAPGAPGPAPGRATEGRAALDIVHPVRVDAGGSFLSY
ELWPRALRKRDVSVRRDAPAFYELQYRGRELRFNLTANQHLLAPGFVSETRRRGGLGRAH
IRAHTPACHLLGEVQDPELEGGLAAISACDGLKGVFQLSNEDYFIEPLDSAPARPGHAQP
HVVY
KRQAPERLAQRGDSSAPSTCGVQVYPELESRRERWEQRQQWRRPRLRRLHQRSVSK
EKWVETLVVADAKMVEYHGQPQVESYVLTIMNMVAGLFHDPSIGNPIHITIVRLVLLEDE
EEDLKITHHADNTLKSFCKWQKSINMKGDAHPLHHDTAILLTRKDLCAAMNRPCETLGLS
HVAGMCQPHRSCSINEDTGLPLAFTVAHELGHSFGIQHDGSGNDCEPVGKRPFIMSPQLL
YDAAPLTWSRCSRQYITRFLDRGWGLCLDDPP
AKDIIDFPSVPPGVLYDVSHQCRLQYGA
YSAFCEDMDNVCHTLWCSVGTTCHSKLDAAVDGTRCGENKWCLSGECV
PVGFRPEAVDGG
WSGWSAWSICSRSCGMGVQSAERQCTQPTPKYKGRYCVGERKRFRLCNLQACPAGRPSFR
HVQCSHFDAMLYKGQLHTWVPVVNDVNPCELHCRPANEYFAEKLRDAVVDGTPCYQVRAS
RDLCINGICKNVGCDFEIDSGAMEDRCGVCHGNGSTCHTVSGTFEEAEGLGYVDVGLIPA
GAREIRIQEVAEAANFLALRSEDPEKYFLNGGWTIQWNGDYQVAGTTFTYARRGNWENLT
SPGPTKEPVWIQLLFQESNPGVHYEYTIH
REAGGHDEVPPPVFSWHYGPWTKCTVTCGRG
VQRQNVYCLERQAGPVDEEHCDPLGRPDDQQRKCSEQPC
PARWWAGEWQLCSSSCGPGGL
SRRAVLCIRSVGLDEQSALEPPACEHLPRPPTETPCNRHVPC
PATWAVGNWSQCSVTCGE
GTQRRNVLCTNDTGVPCDEAQQPASEVTCSLPLC
RWPLGTLGPEGSGSGSSSHELFNEAD
FIPHHLAPRPSPASSPKPGTMGNAIEEEAPELDLPGPVFVDDFYYDYNFINFHEDLSYGP
SEEPDLDLAGTGDRTPPPHSHPAAPSTGSPVPATEPPAAKEEGVLGPWSPSPWPSQAGRS
PPPPSEQTPGNPLINFLPEEDTPIGAPDLGLPSLSWPRVSTDGLQTPATPESQNDFPVGK
DSQSQLPPPWRDRTNEVFKDDEEPKGRGAPHLPPRPSSTLPPLSPVGSTHSSPSPDVAEL
WTGGTVAWEPALEGGLGPVDSELWPTVGVASLLPPPIAPLPEMKVRDSSLEPGTPSFPTP
GPGSWDLQTVAVWGTFLPTTLTGLGHMPEPALNPGPKGQPESLSPEVPLSSRLLSTPAWD
SPANSHRVPETQPLAPSLAEAGPPADPLVVRNAGWQAGNWSECSTTCGLGAVWRPVRCSS
GRDEDCAPAGRPQPARRCHLRPC
ATWHSGNWSKCSRSCGGGSSVRDVQCVDTRDLRPLRP
FHCQPGPAKPPAHRPCGAQPC
LSWYTSSWRECSEACGGGEQQRLVTCPEPGLCEEALRPN
TTRPCNTHPC
TQWVVGPWGQCSGPCGGGVQRRLVKCVNTQTGLPEEDSDQCGHEAWPESS
RPCGTEDC
EPVEPPRCERDRLSFGFCETLRLLGRCQLPTIRTQCCRSCSPPSHGAPSRGH
QRVARR
Sequence length 1686
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
    Defective B3GALTL causes Peters-plus syndrome (PpS)
O-glycosylation of TSR domain-containing proteins
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Coronary artery disease Coronary Artery Disease rs137852988, rs121918313, rs-1, rs121918529, rs121918531, rs137852340, rs405509, rs1555800701, rs1215189537 21378990
Coronary heart disease Coronary heart disease rs-1 21378990, 21239051
Lung carcinoma Carcinoma of lung rs1805076, rs121909071, rs121913530, rs112445441, rs121913529, rs121913535, rs121913297, rs121913279, rs104886003, rs397516975, rs11554290, rs121913364, rs121913351, rs121913369, rs121913355, rs121912470, rs121913273, rs121913281, rs121913348, rs727503093, rs121913353, rs397516890, rs397516896, rs121913378, rs397516897, rs397516977, rs397516978, rs397516979, rs397516980, rs397516981, rs397516982, rs121913240, rs17851045, rs397517086, rs121913428, rs397517094, rs397517098, rs397517106, rs121913465, rs397517108, rs397517111, rs397517112, rs397517114, rs397517116, rs1554350366, rs397517127, rs397517200, rs397517202, rs121913283, rs121913370, rs121913357, rs727503106, rs121913238, rs727503108, rs397517040, rs397516976, rs1555618025, rs1057519729, rs-1, rs1584238193 28604730
Lung adenocarcinoma Adenocarcinoma of lung (disorder) rs-1, rs28934576, rs121913530, rs397516975, rs587776805, rs121913469, rs121913364, rs121913351, rs121913366, rs397516896, rs397516977, rs397516981, rs397517127, rs121913344, rs727504233, rs121913370, rs760043106, rs1057519788, rs1131692238, rs1131692237, rs1554350382 28604730
Unknown
Disease name Disease term dbSNP ID References
Coronary arteriosclerosis Coronary Arteriosclerosis 21378990
Sclerocystic ovaries Sclerocystic Ovaries 21411543
Polycystic ovary syndrome Polycystic Ovary Syndrome 21411543

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