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8625 RFXANK

8625

RFXANK

regulatory factor X associated ankyrin containing protein

protein-coding

Homo sapiens

基因描述

Type Description
Definition regulatory factor X associated ankyrin containing protein

研究结论

Date Results Publications
2020-09-19 16:30:00 Structural basis for the recognition of RFX7 by ANKRA2 and RFXANK. 31864703
2019-09-14 11:49:00 this study reports an 8 month-old girl with MHC class II deficiency with a novel homozygous mutation in RFXANK gene and normal CD4+ T cell counts, diagnosed by whole exome sequencing and negative HLA-DR proteins on peripheral blood mononuclear cell in flow cytometry 30644704
2019-06-22 12:10:00 these data identify a novel caspase-2-interacting factor, RFXANK, and indicate a potential non-apoptotic role for the enzyme in the control of MHC class II gene regulation. 29362422
2016-10-22 11:26:00 mutation results in Bare Lymphocyte Syndrome, Type 2 in a child of Mexican descent 26634365
2012-01-07 11:34:00 genetic, clinical, and immunologic features of 35 patients from 30 unrelated kindreds from North Africa sharing the same RFXANK founder mutation, a 26-bp deletion called I5E6-25_I5E6 + 1) 21908431

名称对应

Type IDs
Synonymous ANKRA1, BLS, F14150_1, RFX-B
Gene
UniProtKB-ID: RFXK_HUMAN, A0A024R7P0_HUMAN, A0A024R7M1_HUMAN
UniprotKB: O14593, A0A024R7P0, A0A024R7M1
UniParc: UPI000002B24A, UPI00006E2226, UPI0004438037, UPI000003340B
EMBL: CH471106, AC003110, AF077196, AC002126, BC114558, BC114563, AF105428, CR542199, AF105427, AF094760
Ensembl: ENSG00000064490
KO: hsa:8625
Nucleutide sequences
EMBL-CDS: EAW84795.1, AAI14564.1, AAD17972.1, CAG46996.1, AAB86654.1, AAD17973.1, AAI14559.1, AAC69883.1, AAD26991.1, EAW84798.1, EAW84799.1, EAW84797.1
Gene_ORFName: hCG_38560, hCG_38560
Ensembl_TRS: ENST00000456252, ENST00000303088, ENST00000407360, ENST00000392324
Protein sequencees
Ensembl_PRO: ENSP00000409138, ENSP00000384572, ENSP00000305071, ENSP00000376138
RefSeq: XP_005260192.1, NP_003712.1, NP_001357165.1, NP_001357166.1, NP_001265657.1, XP_005260194.1, NP_001357167.1, NP_001357164.1, NP_001357162.1, XP_005260191.1, NP_604389.1, NP_001357163.1, NP_001265656.1
Others
UniRef100: UniRef100_A0A024R7P0, UniRef100_O14593
UniRef90: UniRef90_O14593, UniRef90_O14593-3
UniRef50: UniRef50_O14593
UniGene: Hs.153629, Hs.296776
CCDS: CCDS62611.1, CCDS12395.1

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