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54414 SIAE

54414

SIAE

sialic acid acetylesterase

protein-coding

Homo sapiens

基因描述

Type Description
Definition sialic acid acetylesterase

研究结论

Date Results Publications
2018-05-12 11:15:00 analysis of whether SIAE rare variants associated with phenotype of juvenile idiopathic arthritis (JIA) and autoimmunity risk in families with primary antibody 3 novel variants were found in patients with JIA and in their healthy relatives without autoimmunity; none of patients or their relatives had SIAE defects; results show SIAE rare variants are not causative of autoimmunity as single defects 28900629
2016-08-20 10:12:00 Authors determined whether mutations in the SIAE gene are responsible for RA in a Han Chinese population 26535733
2015-04-18 10:08:00 We found A467V SIAE variants (c.1400C>T, rs7941523) in a heterozygous state in all the patients with anti-PIT-1 antibody syndrome. 24748456
2014-03-15 12:01:00 There is no evidence for SIAE genetic variants affecting patients with vitiligo. 22913750
2013-07-06 11:24:00 SIAE may be associated with autoimmunity. 23308225

名称对应

Type IDs
Synonymous AIS6, CSE-C, CSEC, LSE, YSG2
Gene
UniProtKB-ID: SIAE_HUMAN
UniprotKB: Q9HAT2
UniParc: UPI0000073B2D, UPI000006E8B8
EMBL: AL137496, AF303378, AK056093, BC068450, CH471065, AF300796
Ensembl: ENSG00000110013
KO: hsa:54414
Nucleutide sequences
EMBL-CDS: EAW67591.1, AAH68450.1, CAB70771.1, AAG15386.1, AAG14897.1, BAG51622.1
Ensembl_TRS: ENST00000545756, ENST00000618733, ENST00000263593
Protein sequencees
Ensembl_PRO: ENSP00000437877, ENSP00000478211, ENSP00000263593
RefSeq: XP_016873419.1, NP_001186851.1, NP_733746.1
Others
UniRef100: UniRef100_Q9HAT2
UniRef90: UniRef90_Q9HAT2
UniRef50: UniRef50_Q9HAT2
UniGene: Hs.10056
CCDS: CCDS8449.1, CCDS55795.1

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