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170691 ADAMTS17

170691

ADAMTS17

ADAM metallopeptidase with thrombospondin type 1 motif 17

protein-coding

Homo sapiens

基因描述

Type Description
Definition ADAM metallopeptidase with thrombospondin type 1 motif 17

研究结论

Date Results Publications
2021-02-13 13:25:00 A novel pathogenic missense ADAMTS17 variant that impairs secretion causes Weill-Marchesani Syndrome with variably dysmorphic hand features. 32616716
2019-12-07 10:04:00 A novel nonsense mutation c.1051 A > T in ADAMTS17 had been identified caused autosomal recessive WMS in the Chinese family. 31019231
2018-11-10 11:15:00 Secretion of ADAMTS17 requires O-fucosylation. ADAMTS17 binds fibrillin-2 but not fibrillin-1 and does not cleave either. ADAMTS17 regulates fibrillin isoform composition of microfibrils in the eye. 28176809
2015-05-16 10:47:00 higher Adamts17 expression is found in several human cancer cell subtypes, especially in breast ductal carcinoma and there is an inverse correlation between higher Adamts17 expression and patients' survival. 24906090
2014-10-04 10:58:00 The mutation in the Weill-Marchesani syndrome (WMS)- gene ADAMTS17 also causes WMS in an Indian family. 24940034

名称对应

Type IDs
Synonymous WMS4
Gene
UniProtKB-ID: ATS17_HUMAN
UniprotKB: Q8TE56
UniParc: UPI0000D613A8, UPI00001AE929
EMBL: AC113187, AJ315735, AC022710, AC084855, DQ217943, AC015723, AK131344
Ensembl: ENSG00000140470
KO: hsa:170691
Nucleutide sequences
EMBL-CDS: CAC86016.1, ABB70740.1, BAD18500.1
Ensembl_TRS: ENST00000268070
Protein sequencees
Ensembl_PRO: ENSP00000268070
RefSeq: XP_016877464.1, XP_016877463.1, XP_016877462.1, XP_016877471.1, XP_016877466.1, XP_016877468.1, XP_005254929.1, XP_016877473.1, XP_016877465.1, NP_620688.2, XP_016877469.1, XP_016877467.1, XP_011519614.1, XP_016877470.1, XP_016877472.1
Others
UniRef100: UniRef100_Q8TE56
UniRef90: UniRef90_Q8TE56
UniRef50: UniRef50_Q8TE56
UniGene: Hs.513200
CCDS: CCDS10383.1

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