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29940 DSE

29940

DSE

dermatan sulfate epimerase

protein-coding

Homo sapiens

基因描述

Type Description
Definition dermatan sulfate epimerase

研究结论

Date Results Publications
2020-10-03 12:57:00 Dermatan sulfate epimerase 1 expression and mislocalization may interfere with dermatan sulfate synthesis and breast cancer cell growth. 31972438
2019-03-09 10:10:00 DS-epi1, DS-epi2, and D4ST1 form homomers and are all part of a hetero-oligomeric complex where D4ST1 directly interacts with DS-epi1, but not with DS-epi2. The cooperation of DS-epi1 with D4ST1 may therefore explain the processive mode of the formation of iduronic acid blocks. 29976758
2018-12-22 11:17:00 Study showed that DSE is frequently upregulated in human glioma tissue and cell lines and associated with a worse tumor grade and poor overall survival. Its knockdown suppresses malignant phenotypes, whereas DSE overexpression enhances glioma cell malignancy, both in vitro and in vivo. Mechanically, DSE modulates HB-EGF-induced EGFR/ErbB2 activity and downstream signaling. 29864158
2014-03-22 11:10:00 study identified a homozygous DSE missense mutation (c.803C>T, p.S268L) in a male child with musculocontractural type of Ehlers-Danlos syndrome; data indicate mutation affects the epimerase activity, resulting in reduced dermatan sulfate (DS) biosynthesis and an increased synthesis or an accumulation or reduced conversion of chondroitin sulfate 23704329
2012-06-02 11:34:00 Dermatan sulfate epimerase 1 was highly upregulated in esophagus squamous cell carcinoma 22350411

名称对应

Type IDs
Synonymous DS-epi1, DSEP, DSEPI, EDSMC2, SART-2, SART2
Gene
UniProtKB-ID: DSE_HUMAN, B7Z1T3_HUMAN, A0A2U3TZJ0_HUMAN, A0A2R8YE23_HUMAN, B7Z765_HUMAN
UniprotKB: Q9UL01, B7Z1T3, A0A2U3TZJ0, A0A2R8YE23, B7Z765
UniParc: UPI0001914AEC, UPI0000073CB8, UPI000191520A, UPI0007AA7D59, UPI0007AA7D88
EMBL: AL050331, Z84488, AF098066, BC039245, AL590542, AK293872, AK301513
Ensembl: ENSG00000111817
KO: hsa:29940
Nucleutide sequences
EMBL-CDS: AAF00087.1, AAH39245.1, BAH11619.1, BAH13501.1
Ensembl_TRS: ENST00000452085, ENST00000331677, ENST00000644252, ENST00000359564, ENST00000647244, ENST00000646710
Protein sequencees
Ensembl_PRO: ENSP00000404049, ENSP00000332151, ENSP00000494147, ENSP00000352567, ENSP00000495184, ENSP00000495970
RefSeq: NP_001309869.1, NP_001309873.1, NP_001309868.1, NP_001361451.1, NP_001361449.1, NP_001309867.1, NP_001361450.1, XP_016866286.1, XP_016866285.1, NP_001309872.1, NP_001074445.1, NP_001309866.1, XP_016866284.1, NP_037484.1, NP_001309870.1
Others
UniRef100: UniRef100_Q9UL01, UniRef100_B7Z1T3, UniRef100_A0A2U3TZJ0, UniRef100_A0A2R8YE23
UniRef90: UniRef90_B7Z1T3, UniRef90_A0A2R8YE23, UniRef90_A0A2U3TZJ0, UniRef90_Q9UL01
UniRef50: UniRef50_A0A5G2RGF2, UniRef50_B7Z1T3, UniRef50_A0A2R8Y6J1, UniRef50_Q9UL01
UniGene: Hs.458358
CCDS: CCDS5107.1

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