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4795 NFKBIL1

4795

NFKBIL1

NFKB inhibitor like 1

protein-coding

Homo sapiens

基因描述

Type Description
Definition NFKB inhibitor like 1

研究结论

Date Results Publications
2020-01-11 12:40:00 Study found significant associations for two single nucleotide polymorphisms in NFKBIL1: rs2239707 showed a significant distribution of genotype frequencies in the case-control analysis both for all individuals combined and in boys only, and rs2230365 was significantly associated with the ALTs-module language impairment in boys only. 31162003
2015-07-04 11:00:00 genetic association studies in a population of black women in South Africa: Data suggest that an SNP in NFKBIL1 (rs2071592) is associated with iron status/iron-deficiency anemia in the population studied. 25809685
2014-08-09 10:23:00 These observations suggest a functional involvement of IkappaBL in the regulation of alternative splicing in both human and viral genes, which is a novel link of HLA locus to the regulation of immunity and infection in humans. 23953137
2012-11-24 11:21:00 an association was noted between IKBL-62T and idiopathic inflammatory myopathy, with increased risk noted in anti-Jo-1- and -PM-Scl antibody-positive patients; the IKBL-62T association is dependent on TNF-308A and HLA-B*08, due to strong shared linkage disequilibrium between these alleles 22210660
2010-12-05 22:08:00 Observational study of gene-disease association. (HuGE Navigator) 20854863

名称对应

Type IDs
Synonymous IKBL, NFKBIL
Gene
UniProtKB-ID: IKBL1_HUMAN, A8K778_HUMAN, A0A0A0MRT5_HUMAN, Q5STV6_HUMAN
UniprotKB: Q9UBC1, A8K778, A0A0A0MRT5, Q5STV6
UniParc: UPI000020E56B, UPI0000470295, UPI00015DA8CE, UPI00004702D5, UPI000020D8E4, UPI000000DD49
EMBL: AF097428, CR753892, AB000876, AL662847, AF097421, Y14768, AL662801, AK300818, CH471081, AB088115, BX248516, AF097424, AF097429, X77909, AC004181, AL929587, AF097423, AF097427, CR942185, AF097419, AF097422, BC143671, AB000882, AK291893, BA000025, BX927320, AF097426, AF097425, AF097420, BX001040, KY500483
Ensembl: ENSG00000204498, ENSG00000227565, ENSG00000235125, ENSG00000206440, ENSG00000236196, ENSG00000234530, ENSG00000236346
KO: hsa:4795
Nucleutide sequences
EMBL-CDS: EAX03418.1, AAI43672.1, AAD38109.1, AAD38117.1, AAD38114.1, AAD38112.1, AAD38116.1, BAB63398.1, AAD38110.1, BAG62473.1, AAD38118.1, AAD38113.1, AAD38108.1, EAX03417.1, AAD38115.1, CAA75072.1, BAC54951.1, CAA54867.1, AAD38111.1, BAF84582.1, AQY76956.1
Ensembl_TRS: ENST00000432160, ENST00000421396, ENST00000383500, ENST00000434332, ENST00000428467, ENST00000419623, ENST00000430501, ENST00000456607, ENST00000453377, ENST00000419122, ENST00000414391, ENST00000376148, ENST00000442947, ENST00000424652, ENST00000400279, ENST00000451911, ENST00000455376, ENST00000430961, ENST00000400285, ENST00000376145, ENST00000376146
Protein sequencees
Ensembl_PRO: ENSP00000408426, ENSP00000413952, ENSP00000372992, ENSP00000394486, ENSP00000383137, ENSP00000365318, ENSP00000414084, ENSP00000411174, ENSP00000404901, ENSP00000413643, ENSP00000411611, ENSP00000395544, ENSP00000395977, ENSP00000383142, ENSP00000399871, ENSP00000414206, ENSP00000401830, ENSP00000407809, ENSP00000396656, ENSP00000365315, ENSP00000365316
RefSeq: NP_001138434.1, NP_001138435.1, NP_004998.3, NP_001138433.1
Others
UniRef100: UniRef100_A0A0A0MRT5, UniRef100_Q9UBC1, UniRef100_Q5STV6, UniRef100_A8K778
UniRef90: UniRef90_Q9UBC1
UniRef50: UniRef50_Q9UBC1
UniGene: Hs.2764
CCDS: CCDS47399.1, CCDS4700.1, CCDS47400.1

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研究热度

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