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3543 IGLL1

3543

IGLL1

immunoglobulin lambda like polypeptide 1

protein-coding

Homo sapiens

基因描述

Type Description
Definition immunoglobulin lambda like polypeptide 1

研究结论

Date Results Publications
2019-09-07 10:57:00 in autosomal recessive agammaglobulinemia a homozygous missense mutation at codon 142 (CCG>with CTG) resulting in a Pro>Leu substitution was identified in exon 3 of the IGLL1 gene; 2 additional silent homozygous substitutions were identified at codons 131 (T>C) and 140 (T>C); sequencing also revealed 2 homozygous single-nucleotide polymorphisms in the noncoding region of exon 3 27576013
2017-08-12 11:46:00 Irrespective of subtype, Acute Lymphoblastic Leukemia with high levels of IGHM, IGLL1 and VPREB1 are arrested at the pre-B stage and correlate with good prognosis in high-risk pediatric B-cell precursor acute lymphoblastic leukemia. 27611867
2013-03-30 11:21:00 Hhydrophobic residues from the lambda5-UR is crucial for the interaction with GAL1 and for pre-BCR clustering. 23124203

名称对应

Type IDs
Synonymous 14.1, AGM2, CD179b, IGL1, IGL5, IGLJ14.1, IGLL, IGO, IGVPB, VPREB2
Gene
UniProtKB-ID: IGLL1_HUMAN
UniprotKB: P15814
UniParc: UPI00001607AD, UPI0000119C23
EMBL: X03530, X03528, M34511, AP000345, BC012293, BC030239, M27749, M34513, M34512
Ensembl: ENSG00000128322
KO: hsa:3543
Nucleutide sequences
EMBL-CDS: CAA27229.1, AAH12293.1, CAA27231.1, AAA36096.1, AAA36100.1, AAH30239.2
Ensembl_TRS: ENST00000330377, ENST00000249053
Protein sequencees
Ensembl_PRO: ENSP00000249053, ENSP00000329312
RefSeq: NP_001356835.1, NP_064455.1, NP_690594.1
Others
UniRef100: UniRef100_P15814
UniRef90: UniRef90_P15814
UniRef50: UniRef50_P15814
UniGene: Hs.348935
CCDS: CCDS13810.1, CCDS13809.1

全选

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