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10907 TXNL4A

10907

TXNL4A

thioredoxin like 4A

protein-coding

Homo sapiens

基因描述

Type Description
Definition thioredoxin like 4A

研究结论

Date Results Publications
2021-02-02 13:23:00 Burn-McKeown syndrome with biallelic promoter type 2 deletion in TXNL4A in two siblings. 32187816
2020-12-12 13:24:00 The Renpenning syndrome-associated protein PQBP1 facilitates the nuclear import of splicing factor TXNL4A through the karyopherin beta2 receptor. 32041777
2017-12-16 11:29:00 Recessive variants in TXNL4A were identified in two individuals with Burn-McKeown syndrome as well as in three individuals (from two families) with isolated choanal atresia. 28905882
2017-04-29 12:33:00 results suggest that the interaction between PQBP1 and WBP11 negatively modulates the U5-15kD binding of PQBP1 by an allosteric mechanism 27314904
2015-02-28 12:02:00 Reporter gene and in vivo assays showed that the promoter deletions led to reduced expression of TXNL4A. Depletion of TXNL4A (Dib1) in yeast demonstrated reduced assembly of the tri-snRNP complex. 25434003

名称对应

Type IDs
Synonymous BMKS, DIB1, DIM1, SNRNP15, TXNL4, U5-15kD
Gene
UniProtKB-ID: TXN4A_HUMAN, K7ESL1_HUMAN
UniprotKB: P83876, K7ESL1
UniParc: UPI00001EC400, UPI00000223B3
EMBL: BC019272, BC001046, AC090360, AF023611, CH471117, AF146373, AK314901
Ensembl: ENSG00000141759
KO: hsa:10907
Nucleutide sequences
EMBL-CDS: EAW66640.1, AAH01046.1, AAB81950.1, BAG37415.1, AAH19272.1, AAF17332.1
Ensembl_TRS: ENST00000269601, ENST00000585474, ENST00000592837, ENST00000592957
Protein sequencees
Ensembl_PRO: ENSP00000269601, ENSP00000465493, ENSP00000465572, ENSP00000468761
RefSeq: NP_001292493.1, NP_001292486.1, NP_001292492.1, NP_006692.1, NP_001290400.1
Others
UniRef100: UniRef100_P83876
UniRef90: UniRef90_P83876
UniRef50: UniRef50_P83876
UniGene: Hs.465498
CCDS: CCDS32852.1

全选

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